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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0084 a0001c0084	a0001c0084t0002 a0001c0084t0002	a0001c0084t0002g0065 a0001c0084t0002g0065	1	316	0.0032	1217	c.49 others(1228): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01109.hp2 HG02559.hp2 HG00609.hp1 HG01109.hp2 HG02559.hp2	a0001 a0003 a0060 a0001 a0003 a0060	a0001c0127 a0003c0033 a0060c0074 a0001c0127 a0003c0033 a0060c0074	a0001c0127t0002 a0003c0033t0001 a0060c0074t0004 a0001c0127t0002 a0003c0033t0001 a0060c0074t0004	a0001c0127t0002g0082 a0003c0033t0001g0165 a0060c0074t0004g0183 a0001c0127t0002g0082 a0003c0033t0001g0165 a0060c0074t0004g0183	3	316	0.0095	1217	c.49 others(1228): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG00140.hp1 HG00733.hp1	a0002 a0002	a0002c0014 a0002c0031 a0002c0014 a0002c0031	a0002c0014t0001 a0002c0031t0002 a0002c0014t0001 a0002c0031t0002	a0002c0014t0001g0172 a0002c0031t0002g0075 a0002c0014t0001g0172 a0002c0031t0002g0075	2	316	0.0063	1217	c.49 others(1228): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCCTGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0054 a0054	a0054c0116 a0054c0116	a0054c0116t0001 a0054c0116t0001	a0054c0116t0001g0159 a0054c0116t0001g0159	1	316	0.0032	1217	c.49 others(1228): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCCTGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0056 a0056	a0056c0122 a0056c0122	a0056c0122t0001 a0056c0122t0001	a0056c0122t0001g0095 a0056c0122t0001g0095	1	316	0.0032	1217	c.49 others(1228): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGGTGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCCTTTAAATGGCCCTCACATTT CTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGG CCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGC CTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGG CCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCT GTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAA TGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGG GCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAA ACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAG GTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTT TTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCA GCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0003 a0001c0050t0003	a0001c0050t0003g0306 a0001c0050t0003g0306	1	316	0.0032	1217	c.49 others(1228): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAG GTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTT CCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTT GCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATC GCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCG ACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCT GGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTG TCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGC CTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGG AGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTC GCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGG CCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGC CTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGG CCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCT GTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAA TGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGG GCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAA ACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAG GTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTT TTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCA GCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0003 a0001c0029t0003	a0001c0029t0003g0301 a0001c0029t0003g0301	1	316	0.0032	1217	c.49 others(1228): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1210): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01934.hp2 HG02976.hp1 HG01891.hp2 HG01934.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0148 a0001c0001t0001g0176 a0001c0001t0001g0177	3	248	0.0121	1217	c.273 others(1236): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
ENTREP2_chr15_29115252_29575979	29131600	T T	TCACACAC others(1210): Show TCACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCCCAGCCCC CATCACCTCCCCCTCCACACACACCCCAGCCCCCATCACCTCCCCCTCCA CACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCCCAGCCCCC ATCACCTCCCCCTCCACACACACCCCAGCCCCCATCACCTCCCCCTCCAC ACACACCAGCCCCCCACATCACCTCCCCCTCCTCCACACACACCAGCCGC CCAAATTGCCTCCCCCTTCACACACTCCATCCCCCCAAATCACCTCCCCT CGACACACCCCAGCCCCTCACATCACCTCCCCTCCACACACACCCCAGCC CCCCACATCACCTCCCCCTCCTCCACACACCCTAGGCCCCCCACATCACC TCCCCCTCCTCCACACACCCCAGTCCCCCACATCACCTCCCCCTCCACAC ACACCCCAGGCCCCCCACATCGCCTCCCCCTCCACACACACCCCAGGCCC CCCACATCACCTCCCCCTCCACACACACCCCAGGCCCCCCACATCACCTC CCCCTCCTCCACACACCCTAGGCCCCCCACATCGCCTCCCCCTCCTCCAC ACACCCCAGCCCCCCACATCGCCTCCCTCTCCACACACACCCCAGGCCCC CCACATCGCCTCCCCCTCCACACACACCCCAGGCCCCCCACATCACCTCC CCTCCACACACACCCCAGCCCCCCACATCGCCTCCCCCTCCTCCACACAC CCCAGCCCCCCACATCGCCTCCCTCTCCACACACACCCCAGGCCCCCCAC ATCGCCTCCCCCTCCACACACACCCCAGGCCCCCCACATCACCTCCCCTC CACACACACCCCAGGCCCCCCACATCACCTCCCCCTCCTCCACACAGCCT AGGCCCCCCACATCGCCTCCCCCTCCTCCACACACCCCAGCCCCCCACAT CGCCTCCCCCTCCACACACACCCCAGGCCCCCCACATCACCTCCCCCTCC TCCACACACCCCAGCCCCCCACATCGCCTCCCCCTCCACACACACCCTAG GCCCCCCACATCGCCTCCCCCTCCTCCACACACCCCAGCCCCCCACATCA CCTCCCCCTCCTCCACACACCCCAGCCCCCCACATCACCTCCCCTCCACA CACTCCAGCCCCTCCTCATCACCTCCCCCTCCACACACCCCAGCCCCTCA CATCTCCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0057 a0002c0005t0005g0057	1	125	0.0080	1217	c.928 others(1234): Show c.928-2737_928-2736insGAGGAGGGGGAGGAGATGTGAGGGGCTG GGGTGTGTGGAGGGGGAGGTGATGAGGAGGGGCTGGAGTGTGTGGAGGGG AGGTGATGTGGGGGGCTGGGGTGTGTGGAGGAGGGGGAGGTGATGTGGGG GGCTGGGGTGTGTGGAGGAGGGGGAGGCGATGTGGGGGGCCTAGGGTGTG TGTGGAGGGGGAGGCGATGTGGGGGGCTGGGGTGTGTGGAGGAGGGGGAG GTGATGTGGGGGGCCTGGGGTGTGTGTGGAGGGGGAGGCGATGTGGGGGG CTGGGGTGTGTGGAGGAGGGGGAGGCGATGTGGGGGGCCTAGGCTGTGTG GAGGAGGGGGAGGTGATGTGGGGGGCCTGGGGTGTGTGTGGAGGGGAGGT GATGTGGGGGGCCTGGGGTGTGTGTGGAGGGGGAGGCGATGTGGGGGGCC TGGGGTGTGTGTGGAGAGGGAGGCGATGTGGGGGGCTGGGGTGTGTGGAG GAGGGGGAGGCGATGTGGGGGGCTGGGGTGTGTGTGGAGGGGAGGTGATG TGGGGGGCCTGGGGTGTGTGTGGAGGGGGAGGCGATGTGGGGGGCCTGGG GTGTGTGTGGAGAGGGAGGCGATGTGGGGGGCTGGGGTGTGTGGAGGAGG GGGAGGCGATGTGGGGGGCCTAGGGTGTGTGGAGGAGGGGGAGGTGATGT GGGGGGCCTGGGGTGTGTGTGGAGGGGGAGGTGATGTGGGGGGCCTGGGG TGTGTGTGGAGGGGGAGGCGATGTGGGGGGCCTGGGGTGTGTGTGGAGGG GGAGGTGATGTGGGGGACTGGGGTGTGTGGAGGAGGGGGAGGTGATGTGG GGGGCCTAGGGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGGGTG TGTGTGGAGGGGAGGTGATGTGAGGGGCTGGGGTGTGTCGAGGGGAGGTG ATTTGGGGGGATGGAGTGTGTGAAGGGGGAGGCAATTTGGGCGGCTGGTG TGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGTGTGTGTGGAGGGGG AGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGG GTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGA GGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGG TGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	7/10			chr15	TogoVar
ITGA9_chr3_37447141_37828507	37708652	C C	CACAATGC others(1210): Show CACAATGCACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGC ACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACA GCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACAGCTCCCCA CACAACAAGGAATTATCCAGCAATGCACAGGACAGCTCCCCACACAACAA GGAATTATCCAACAATGCACAGGACAGCTCCCCACACAACAAGGAATTAT CCAACAATGCACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAAT GCACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGA CAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACAGCTCCC CACACAGCAAGGAATTATCCAACAATGCATAGGACAGCTCCCCACACAAC AAGGAATTATCCAACAATGCACAGGACAGCTCCCCACACCACCAAGAATT ATCCAACAATGCACAGGACAGCTCCCCACACAACAAGGAATTATCCAACA ATGCACAGGACAGCTCCCCACACAACCAAGAATTATCCAAGAATGCACAG GACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACAGCTC CCCACACAACAAGGAATTATCCAACAATGCACAGGACAGCTCCCCACACA ACCAAGAATTATCCAACAATGCACAGGACAGCTCCCCACACAACAAGGAA TTATCCAACAATGCACAGGACAGCTCCCCACACAACAAGGAATTATCCAA CAATGCACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGCAC AGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACAGC TCCCCACACAACAAGGAATTATCCAACAATGCACAGGACAGCTCCCCACA CAGCAAGGAATTATCCAACAATGCACAGGACAGCTCCCCACACAGCAAGG AATTATCCAACAATGCACAGGACAGCTCCCCACACAACAAGGAATTATCC AACAATGCACAGGACAGCTCCCCACACAACAAGGATTTATCCAACAATGC ACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACA GCTCCCCACACAACAAGGAATTATCCAACATGCACAGGACAGCTCTCCAC ACAACAAAGAATTATCCA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02723.hp1 HG02451.hp1 HG02622.hp2 HG02723.hp1	a0002 a0004 a0002 a0004	a0002c0007 a0004c0008 a0002c0007 a0004c0008	a0002c0007t0005 a0004c0008t0024 a0002c0007t0005 a0004c0008t0024	a0002c0007t0005g0095 a0002c0007t0005g0096 a0004c0008t0024g0018 a0002c0007t0005g0095 a0002c0007t0005g0096 a0004c0008t0024g0018	3	168	0.0179	1217	c.206 others(1238): Show c.2068-24037_2068-24036insCACAACAAGGAATTATCCAACAAT GCACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGA CAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACAGCTCCC CACACAACAAGGAATTATCCAGCAATGCACAGGACAGCTCCCCACACAAC AAGGAATTATCCAACAATGCACAGGACAGCTCCCCACACAACAAGGAATT ATCCAACAATGCACAGGACAGCTCCCCACACAACAAGGAATTATCCAACA ATGCACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAG GACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACAGCTC CCCACACAGCAAGGAATTATCCAACAATGCATAGGACAGCTCCCCACACA ACAAGGAATTATCCAACAATGCACAGGACAGCTCCCCACACCACCAAGAA TTATCCAACAATGCACAGGACAGCTCCCCACACAACAAGGAATTATCCAA CAATGCACAGGACAGCTCCCCACACAACCAAGAATTATCCAAGAATGCAC AGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACAGC TCCCCACACAACAAGGAATTATCCAACAATGCACAGGACAGCTCCCCACA CAACCAAGAATTATCCAACAATGCACAGGACAGCTCCCCACACAACAAGG AATTATCCAACAATGCACAGGACAGCTCCCCACACAACAAGGAATTATCC AACAATGCACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGC ACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACA GCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGACAGCTCCCCA CACAGCAAGGAATTATCCAACAATGCACAGGACAGCTCCCCACACAGCAA GGAATTATCCAACAATGCACAGGACAGCTCCCCACACAACAAGGAATTAT CCAACAATGCACAGGACAGCTCCCCACACAACAAGGATTTATCCAACAAT GCACAGGACAGCTCCCCACACAACAAGGAATTATCCAACAATGCACAGGA CAGCTCCCCACACAACAAGGAATTATCCAACATGCACAGGACAGCTCTCC ACACAACAAAGAATTATCCAACAATGCACAGGACAGCTCCCCA	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	18/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	388	0.0026	1217	c.-38 others(1236): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG02559.hp2 others(2): Show HG00280.hp1 HG01109.hp2 HG02559.hp2 NA18999.hp2 NA19000.hp1	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0001 a0001c0028 a0003c0007 others(1): Show a0001c0001 a0001c0028 a0003c0007 a0018c0023	a0001c0001t0002 a0001c0028t0001 a0003c0007t0002 others(1): Show a0001c0001t0002 a0001c0028t0001 a0003c0007t0002 a0018c0023t0003	a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0028t0001g0298 others(2): Show a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0028t0001g0298 a0003c0007t0002g0260 a0018c0023t0003g0183	5	388	0.0129	1217	c.-38 others(1236): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00280.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	2	388	0.0052	1217	c.-38 others(1236): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCCTGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0017 a0017	a0017c0072 a0017c0072	a0017c0072t0011 a0017c0072t0011	a0017c0072t0011g0188 a0017c0072t0011g0188	1	388	0.0026	1217	c.-38 others(1236): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCCTGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0137 a0001c0001t0016g0137	1	388	0.0026	1217	c.-38 others(1236): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0300 a0005c0014t0001g0300	1	388	0.0026	1217	c.-38 others(1236): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGC TTCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACAC CCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCC ACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCT CACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGG GGCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAG GGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGC CGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGC TGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAA GGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTT TTCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTG AGTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGG TCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCT TCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCC CAGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0217	1	388	0.0026	1217	c.-38 others(1236): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACAC CCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCC ACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGG GGCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAG GGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGC CGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGC TGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAA GGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTT TTCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTG AGTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGG TCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCT TCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCC CAGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1210): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0251 a0001c0001t0017g0251	1	388	0.0026	1217	c.-38 others(1236): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTGCCC others(1210): Show CCCTGCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTGCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCC CGCTCCCCCTCCTCCCCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCTCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCC TCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCTCT TCTTTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAATCACCT CCCCCTCCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCTCTCACT CCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCCTC CCCCTCTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCTTTTCCCCCTCC TCCTCCCCTCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCC CCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCTTCC CCCTCCCCTTTCCCCTCCCCCTTCCCCCTTCCCCTTCCCCCTCCCCCTTC CCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTTCCCCTT CCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCC TTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCACCCTCCCCCTTCTCCTC CCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCCTTCTCCTCCCCTCCTC CTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCCTCCCCCTCCTCCTCCT CCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0149	1	194	0.0052	1217	c.-12 others(1236): Show c.-12-17670_-12-17669insGCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCCCCCTG CCCCTCCTCCCCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTTCCCGCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCTCTCCCTTCCCCCTCCCCCTCCTC CCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTC CCCTCCCTCCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTCCTTCACCT CCCCCTCCCCCCAATCACCTCCCCCTCCCCCCGCTCACCTCCCCCTCCCC CCACTCCTCCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCCTGCCCTTCC CCTCCCTCCTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCCCCTC CCCCTCCCTTTTCCCCCTCCTCCTCCCCTCCCCGTTCCCCCTCCCCCTTC CCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCTTCCCCCTCCCCTTTCCCCTCCCCCTTCCCCCTT CCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCT TCCCCTTCCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTC CCCTCCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCC TCACCCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTC CCCCTTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATC CCCCTCCCCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(1210): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC GCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCA CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGC TCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	394	0.0025	1217	c.-8+ others(1230): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCC GGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGG GGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGA GAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(1210): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATT TTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATAT ATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATA AAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATAT ATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATA AAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTA TTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTA TATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	330	0.0030	1217	c.-5+ others(1232): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTA TATATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATATAT AAAGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCATA TATATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAAAA TATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGA TTTTATATATATATAAAATATATAAAAAATATATATCAAATATATATAAA ATAAGATTTTATATATATATAAAATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(1210): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTG GGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACA CTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCA GAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTG GGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACA CTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACCAAGGTTGCAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGG CTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTC ACACTGTGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	242	0.0041	1217	c.360 others(1236): Show c.360+26940_360+26941insTCCAGCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTGCAA CCTTGGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCA GCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCCACAGT GTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCC AGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTT GGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTG CCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACC GTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(1210): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC GCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCA CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGC TCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0002 a0006c0032t0002	a0006c0032t0002g0106 a0006c0032t0002g0106	1	376	0.0027	1217	c.15 others(1228): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAG GGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGA GCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGC GGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(1210): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCG GGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0211 a0004c0009t0001g0211	1	330	0.0030	1217	c.-50 others(1228): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCTGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTG GGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803215	G G	GGGGGCCC others(1210): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0239 a0002c0004t0001g0239	1	330	0.0030	1217	c.-49 others(1228): Show c.-4982_-4981insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4732		chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(1210): Show GGGGGGTTGGGTTAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGAGGGGGGTGGGGGGGGTTGGGGTGAGGGGGGTGGGG GTTGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGG GGGGTGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGG GGGTGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGGTGGGG TCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGT CGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGG GGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGA GTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGG GGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGG GTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGGTTGGGTGAGGGGGGTGG GGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0009 a0003c0034t0009	a0003c0034t0009g0279 a0003c0034t0009g0279	1	290	0.0035	1217	c.464 others(1230): Show c.464+91_464+92insTTAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGGTTGGGGTGAGGGG GGTGGGGGTTGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGGTTG GGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGA GTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGG GGTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGG GTGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGG GGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGG GTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGGTTGGGTGAGG GGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
THEG_chr19_356747_381026	377448	G G	GCCCCCAC others(1210): Show GCCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCGCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCCTCTGTACCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCC CCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTG TACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCGCCC CCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTACCCCACCCAGCCTCTCCCCCCTCTGTACCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCACTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCCTCTGTACCCCACCCA GCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	370	0.0027	1217	c.-14 others(1228): Show c.-1479_-1478insGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAG GGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGTGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTAC AGAGGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGCGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCT GGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGG GAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACGGGGGCGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTG GGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1423		chr19	TogoVar
C4orf19_chr4_37448925_37598510	37585272	G G	GGGAGGGG others(1211): Show GGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTAT TGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGG AGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAG GGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGG GAGAGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGG TGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAGG GAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTG AGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAG AGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGG GAGAGGAGAGGTGTTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGGA GGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTA TTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAG GAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGA GGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAG GGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAG GTGTTGAGGGAGAGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTT GAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCA GAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGG GGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAAAT GTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGA GGAGAGGTGTTGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0054 a0001c0001t0049g0054	1	354	0.0028	1218	c.-22 others(1235): Show c.-22-3547_-22-3546insAGGGAGGGGAGAGGAGAGGTATTGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGT GTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGA GGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGG AGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGA GGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGT TGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAG GGTGGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGG TGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAG AGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAG GAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTG AGGGAGAGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAG AGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGG GAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGATCAGAGGTGTTGAGGGA AGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTG TTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAT CAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAAATGTTGAG GGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585467	T T	TGAGGGAA others(1211): Show TGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGG AAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGA TGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAG AGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAAGG GAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTG AGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAA AGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGG GAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATG TTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAG GAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGA GGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAG GGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAG GTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGA GAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGATATCGAGGGAGG GGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGG GGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGG AGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGA GGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGG AGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0207 a0002c0002t0004g0207	1	354	0.0028	1218	c.-22 others(1235): Show c.-22-3373_-22-3372insAGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGA GGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGG AGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGA GGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGA GGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGT TGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAG GGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGG GAAGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGA TATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAG AGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTG AGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAGAGGAG AGATATCGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGG GAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATG TTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAG GAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAG GGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAG GTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585493	T T	TGTTGAGG others(1211): Show TGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAG ATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAG GAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTG AGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAG AAATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGG GAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTG TTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAG GAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGA GGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAG GGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGA GAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAG GGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTT GAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGG GGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGG AGGGGAGGGTGGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGT ATTGAGGGAGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGA GGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGG AGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGA GGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGA AATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGG AGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAG GGGAGGGGAGAGGAGAGAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	354	0.0028	1218	c.-22 others(1235): Show c.-22-3353_-22-3352insGTTGAGGGAAGGGAGGGGAGAGGAGAGG TGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAG AGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTGAGGGAAGG GAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGATCAGAGGTGTTG AGGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAG AGATGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGG GAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGA GAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTG TTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAG GAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGA GGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAG GGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAG GTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGA GATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGA GGAGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTT GAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGA GAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGG GTGGAGGAGAGGTATTGAGGGAGGGGAGGGTGGAGGAGAGGTATTGAGGG AGGGGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGT ATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGA GGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGG AGGGGAGATCAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGA GGGAGGGGAGGGGAGAGGAGAAATGTTGAGGGAGGGGAGGGGAGAGGAGA GATGTTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGG AGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGAC	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3			chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585521	A A	ATGTTGAG others(1211): Show ATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGA GAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTT GAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGG GGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGG AGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGT GTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGA GGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGG AGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGA GGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGA GATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGG AGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAG GGGAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGT TGAGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGG AGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGA TATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAG AGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTG AGGGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAG AGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGG GAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGA GGGGAGGGGAGAGGAGAGG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0125 a0002c0002t0021g0125	1	354	0.0028	1218	c.-22 others(1235): Show c.-22-3300_-22-3299insAAGGTGTTGAGGGAAGGGAGGGGAGAGG AGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAG GGGAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGG GAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGA TATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAG AGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAG GAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTG AGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAG AGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGG TAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAGGGA GGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATA TCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAG GAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAG GGAGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAG GTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGA GAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGATATC GAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA GAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGG GGAGAGGAGAGATGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGG AGGGGAGGGGAGAGGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGT GTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGA GGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGG AGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(1211): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTG AGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTG ATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGA GAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGA TCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAG AAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGAT CAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGA AGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATC AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAA GGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03209.hp2 NA19030.hp2 HG02735.hp2 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0091 a0001c0002t0004 a0001c0001t0019 a0001c0001t0091 a0001c0002t0004	a0001c0001t0019g0086 a0001c0001t0091g0030 a0001c0002t0004g0171 a0001c0001t0019g0086 a0001c0001t0091g0030 a0001c0002t0004g0171	3	214	0.0140	1218	c.565 others(1235): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCAT TGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGT GAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATT GATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CCDC183_chr9_136791338_136812741	136803280	G G	GCCGGGGG others(1211): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCGGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0343 a0001c0001t0002g0343	1	398	0.0025	1218	c.666 others(1233): Show c.666+495_666+496insCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCG GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1211): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAA AGAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAGAAAGAAAAGAAAG AAAGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	258	0.0039	1218	c.403 others(1233): Show c.403-645_403-644insCTTTCTTTCTTTCTTCTTTCTTTCTTTTCT TTCTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTC TTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTT TCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTT TCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTT TCTTTCTTTCTTTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTC TTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTC TTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTCTTTCTTTTTCTT TCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTC TTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTC TTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTT TTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CHMP1A_chr16_89639435_89662708	89647649	G G	GACCCAGT others(1211): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACC CAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGA CCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGC GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGG TGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAA AGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCC GACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	392	0.0026	1218	c.253 others(1233): Show c.253-319_253-318insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCG CACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGT CTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCC CGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGG GTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCAC GTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648111	G G	GACCCAGT others(1211): Show GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGTGCAGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACC CAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACA CCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGC GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGG TGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAA AGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCC GACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA GACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGT GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	392	0.0026	1218	c.253 others(1233): Show c.253-781_253-780insGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCA CTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCG CACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGT GTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCC CGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGG GTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCAC GTCGGCGGCCTTTTCTCCACCGACCCTGCACTGGGTCTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647304	A A	ATCCTCCT others(1211): Show ATCCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACC CATCCTCCTCCACACCCCTTCTAGTCCACCACTCCCCCCTCCTCCTCCAC ACCCCTCCTCCTCCTCCACACTCTTACCCCTCCACACCCCTCCTCTTCCA CCAGACCCCTCCTCCACACCCCTCCCCCCACCTCACTTCTCCCCCTTCAC ACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATCCCTTCCCCCTCC TCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCT CCACACCCATCATCCTCCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGC ACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCCACACCACTCCTCTGC CTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAA CTCTCCTCCTCCACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCC CCTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCC TCCACCCCCTCCACACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTC CTCCTCCACACCCCTCATCCTCCTCCACACCCCTCCTCCGCCTCACCCCT CCTCCGCCTCACCCCTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCT GCTCCACATCCCTCCTGCTTCACACCCCTCCCCCTCCCCCTTCACACCCC TCCTCCTCTACACCCCGCCTCCTCCTCCACACCCCTCCCCCTCACCTCTC CTCCTCCACACTCACTCCTCCACACCCCTCCTCCTCACCCCTCCTCAACC TCCACACCACACCCCCTCCACTACCCGCTCCTCACCTCTCCCCTCCCTCA CCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACATCCCTACCCCTCCAC ACCCCTCCCACCTCACTTTTCCCCCTTCACACACCTCCTCAACCTTCACA TCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCCCTCTCCCCTCATCA CCTCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCTTC CTCCTCCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCACACCCCT CCTCCTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCC TCCTCCTCCACACCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	276	0.0036	1218	c.51 others(1229): Show c.5164_*5165insTCCTCCTCCTCACCCCTCCTCCTCTGCCACACCC CTACTCCTCCTCACCCATCCTCCTCCACACCCCTTCTAGTCCACCACTCC CCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACTCTTACCCCTCCAC ACCCCTCCTCTTCCACCAGACCCCTCCTCCACACCCCTCCCCCCACCTCA CTTCTCCCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCAC ATCCCTTCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTC CACACCCCTCCTCCTCCACACCCATCATCCTCCACGCCCCTTCTCCTCAC TCCTCCTCCTCCTGCACACCCCTTCTCCTCCTCACCCTTTGTCCTACTCC ACACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCTCCAT ACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCACCCCGTCCTC CTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCCTGCT CCACATCCCTCCCCCTCCACCCCCTCCACACCCCTCCTCTGCCTCATGCC TCTTCCTCACCCCTCCTCCTCCACACCCCTCATCCTCCTCCACACCCCTC CTCCGCCTCACCCCTCCTCCGCCTCACCCCTCCTCCTCACCCCTTCTCCT CTCCACATCCCTCCTGCTCCACATCCCTCCTGCTTCACACCCCTCCCCCT CCCCCTTCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACACCCC TCCCCCTCACCTCTCCTCCTCCACACTCACTCCTCCACACCCCTCCTCCT CACCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCTCAC CTCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACA TCCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACACACC TCCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACC CCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCTCC ACACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCTTC CTCCTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCCT CCTCCTCCACACCCCTCCTCCTCCACACCCCTCC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1960		chr15	TogoVar
DBNDD1_chr16_89999871_90024456	90008072	G G	GTCCCAAG others(1211): Show GTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAGGACGTCCCAAGG GGCCTCAGCCCACCACGCACACCTCCCAGGACGTCCCAAGGGGCCTCAGC CCACCACGCACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACCC ACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCC AGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTCCC AAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGCCT CACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCACCCCCCAA ACACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCC CAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGTC CCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCC TCACCCCCCAAACACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCA AACACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACACACACCT CCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAGGACG TCCCAAGGGGTCTCAGCCCACCACGCACACCTCCCAGGACGTCCCAAGGG GCCTCAGCCCACCACCCACACCTCCCAGGACTTCCCAAGGGGCCTCAGCC CACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACAC ACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAG GACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTCCCAA GGGGCCTCAGCCCACCATGCACACCTCTCAGGACTTCCCAAGGGGCCTCA GCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAA CACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCC CAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTCC CAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGCC TCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACC ATGCACACCTCTCAGGACT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0121 a0001c0001t0001g0132	2	412	0.0049	1218	c.319 others(1233): Show c.319+711_319+712insAGTCCTGAGAGGTGTGCATGGTGGGCTGAG GCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGG ACGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGG GAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGG TGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGGGGGTG AGGCCCCTTGGGACGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTT GGGAAGTCCTGAGAGGTGTGCATGGTGGGCTGAGGCCCCTTGGGAAGTCC TGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGT GGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGGGG GTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCC CTTGGGAAGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGACG TCCTGGGAGGTGTGCGTGGTGGGCTGAGACCCCTTGGGACGTCCTGGGAG GTGTGCGTGGTGGGCTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGTGTG GTGGGCTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAG GCCCCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGG AAGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGG AGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTT TGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGA GGCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGG GACGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTG GGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGG GTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGGGTGGTGGGC TGAGGCCCCTTGGGACGTCCTGGGAGGTGTGCGTGGTGGGCTGAGGCCCC TTGGGACGTCCTGGGAGGTGTGCGTGGTGGGCTGAGGCCCCTTGGGACGT CCTGGGAGGTGTGCGTGGTGGGCTGAGGCCCCTTGGGA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0009 a0002c0007t0002g0009	1	316	0.0032	1218	c.49 others(1229): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03471.hp1 HG04184.hp2 HG03195.hp2 HG03471.hp1 HG04184.hp2	a0001 a0001	a0001c0006 a0001c0028 a0001c0063 a0001c0006 a0001c0028 a0001c0063	a0001c0006t0003 a0001c0028t0004 a0001c0063t0001 a0001c0006t0003 a0001c0028t0004 a0001c0063t0001	a0001c0006t0003g0268 a0001c0028t0004g0233 a0001c0063t0001g0249 a0001c0006t0003g0268 a0001c0028t0004g0233 a0001c0063t0001g0249	3	316	0.0095	1218	c.49 others(1229): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0003 a0002c0007t0002g0003	1	316	0.0032	1218	c.49 others(1229): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCCACTTGGGCTTATCGCCCGCTGGCCGCG CCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCC CTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGG GCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGA GTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGG CCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATT TAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGT CTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	316	0.0032	1218	c.49 others(1229): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCCACTCCCCCCCCCTGCTGCTTCCCCC CCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAG GTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTT CCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTT GCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCCACTTGGGCTTAT CGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCC GACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTC TGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCT GTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCG CCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGG GAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGT CGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAG TTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTT CTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGG CCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGC CTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGG CCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCT GTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAA TGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGG GCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAA ACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAG GTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTT TTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCA GCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0005 a0005	a0005c0093 a0005c0093	a0005c0093t0001 a0005c0093t0001	a0005c0093t0001g0118 a0005c0093t0001g0118	1	316	0.0032	1218	c.49 others(1229): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCC CCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAG GTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTT CCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTT GCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATC GCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCG ACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCT GGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTG TCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGC CTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGG AGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTC GCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGC CCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCC TCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGC CATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTG TTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAAT GAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGG CCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAA CTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGG TCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTT TGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAG CTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DPEP1_chr16_89608642_89643433	89635172	T T	TTCCTTCC others(1211): Show TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCATTCCC TTACCCATCCTTCCCTTTCCCTTCCTCCCTATCCCCTTCCTACCCTTTCC CCTTCCTTCCCTATCCCCTTCCTACCCTTTCCCCTACCATACCCATACCC TACCTTCTCCTCCCTTCCTTCCTACTCCTAATCCTTCCCTTCCTACCCTT TCCCTTCCATCCCTTTCCCATCCTTCTCCATTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCC CCTCCTTCTTCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCCTCCTTCTCCTTTCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	250	0.0040	1218	c.105 others(1233): Show c.105-730_105-729insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCATTCCCTTACCCATCCTTCCCTTTCCCTTCCTCCCTATCCCCT TCCTACCCTTTCCCCTTCCTTCCCTATCCCCTTCCTACCCTTTCCCCTAC CATACCCATACCCTACCTTCTCCTCCCTTCCTTCCTACTCCTAATCCTTC CCTTCCTACCCTTTCCCTTCCATCCCTTTCCCATCCTTCTCCATTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCT CCTTCTCCTTTCCCCTCCTTCTTCTTTCCCCTTCCTTCTCCTTTCCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1211): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	248	0.0040	1218	c.273 others(1237): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
EVC2_chr4_5557439_5713559	5706401	G G	GATAGATA others(1211): Show GATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGAGAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATAGATA CATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATAGATAGATACATACATACATACATACATACATA CATAGATAGATAGATACATAGATAGATAGATACATACATAGATAGATAGA TAGATAGATACATAGATAGATAGATACATACATACATAGATAGATAGATA CATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGATACA TAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATA GACAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATACA TAGATAGATAGATAGATACATAGAGATACATAGATAGATAGATACATACA TACATACATAGATACATAGATAGATAGATACATAGATAGATAGATAGATA CATACATACATACATACATAGATAGATAGATAGATACATAGATAGATACA TACATAGATAGATACATACATACATAAATAGATAGATACATAGATAGATA GATACATAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATACATAGATAGATACATAGATAGACAGATACATAGATA GATACATAGATACATAGATAGACAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGA TAGATAGATACATAGATACATACATAGATAGATAGATAGATAGATACATA CATACATACATACATACATAGATACATAGATAGATAGATACATAGATAGA TACATAGATAGATAGATAGATACATACATACATACATACATACATAGATA GATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATACATA GATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGATAGA TACATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	292	0.0034	1218	c.228 others(1235): Show c.228+1884_228+1885insGTATCTATCTATCTATGTATCTATCTAT CTATGTGTCTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCT ATGTATCTATCTATCTATGTATCTATCTATCTATCTATGTATGTATCTAT GTATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATGT ATGTATGTATGTATGTATGTATCTATCTATCTATCTATGTATCTATCTAT GTATCTATCTATCTATGTATCTATGTATGTATGTATGTATGTATGTATCT ATCTATCTATCTATCTATGTATGTATCTATGTATCTATCTATCTATGTAT CTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCT ATCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTAT GTATCTATCTATCTATCTGTCTATCTATGTATCTATGTATCTATCTATGT ATCTGTCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTAT GTATCTATCTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCT ATGTATCTATCTATTTATGTATGTATGTATCTATCTATGTATGTATCTAT CTATGTATCTATCTATCTATCTATGTATGTATGTATGTATGTATCTATCT ATCTATCTATGTATCTATCTATCTATGTATCTATGTATGTATGTATGTAT CTATCTATCTATGTATCTCTATGTATCTATCTATCTATCTATGTATCTAT CTATCTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATCTATGT ATCTATCTATGTATCTATCTATCTATCTATCTATGTATCTATGTATCTAT CTATCTATCTATCTATGTATCTATCTATCTATGTATCTATGTATCTATCT ATCTATGTATGTATGTATCTATCTATCTATGTATCTATCTATCTATCTAT CTATGTATGTATCTATCTATCTATGTATCTATCTATCTATGTATGTATGT ATGTATGTATGTATGTATCTATCTATCTATGTATCTATCTATCTATCTAT GTATCTATCTATGTATCTATCTATCTATCTATCTATCTATGTATCTATCT ATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTCTCTAT CTATGTATCTATCTATCTATCTATCTATGTATCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5706433	G G	GATACATA others(1211): Show GATACATAGATAGAGAGATAGATAGATAGATACATAGATAGATAGATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATACATA GATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATACA TACATACATACATACATACATAGATAGATAGATACATAGATAGATAGATA CATACATAGATAGATAGATAGATAGATACATAGATAGATAGATACATACA TACATAGATAGATAGATACATAGATACATAGATAGATAGATACATAGATA GATAGATAGATAGATACATAGATACATAGATAGATAGATAGATAGATACA TAGATAGATACATAGATAGACAGATAGATAGAAACATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATAGATACATAGAGATACATAGATA GATAGATACATACATACATACATAGATACATAGATAGATAGATACATAGA TAGATAGATACATACATACATACATACATACATAGATAGATAGATAGATA CATAGATAGATACATACATAGATAGATACATACATACATAAATAGATAGA TACATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGA CAGATACATAGATAGATACATAGATACATAGATAGACAGATAGATAGATA GATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATA GATAGATACATAGATAGATACATAGATACATACATAGATAGATAGATAGA TACATACATACATACATACATAGATACATAGATAGATAGATACATAGATA GATACATAGATAGATAGATAGATACATACATACATACATACATACATACA TAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATA CATAGATACATACATAGATAGATAGATAGATACATAGATAGATAGATACA TAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGACACATA GATAGATACATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TACATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0167 a0002c0012t0002g0167	1	292	0.0034	1218	c.228 others(1235): Show c.228+1852_228+1853insGTATCTATCTATCTATGTATCTATCTAT GTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTGTCT ATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATGTATCTAT CTATCTATGTATCTATCTATCTATCTATGTATGTATCTATGTATCTATCT ATCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATGTATGTAT GTATGTATGTATGTATGTATCTATCTATCTATCTATGTATCTATCTATGT ATCTATCTATCTATGTATCTATGTATGTATGTATGTATGTATCTATCTAT CTATCTATGTATGTATCTATGTATCTATCTATGTATCTATCTATCTATCT ATCTATGTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGTAT CTATCTATGTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCT ATCTGTCTATCTATGTATCTATGTATCTATCTATGTATCTGTCTATCTAT GTATCTATCTATGTATCTATCTATCTATCTATCTATGTATCTATCTATCT ATCTATCTATCTATCTATCTATGTATCTATCTATCTATGTATCTATCTAT TTATGTATGTATGTATCTATCTATGTATGTATCTATCTATGTATCTATCT ATCTATCTATGTATGTATGTATGTATGTATGTATCTATCTATCTATGTAT CTATCTATCTATGTATCTATGTATGTATGTATGTATCTATCTATCTATGT ATCTCTATGTATCTATCTATCTATCTATGTATCTATCTATCTATCTATCT ATCTATGTTTCTATCTATCTGTCTATCTATGTATCTATCTATGTATCTAT CTATCTATCTATCTATGTATCTATGTATCTATCTATCTATCTATCTATGT ATCTATCTATCTATGTATCTATGTATCTATCTATCTATGTATGTATGTAT CTATCTATCTATGTATCTATCTATCTATCTATCTATGTATGTATCTATCT ATCTATGTATCTATCTATCTATGTATGTATGTATGTATGTATGTATGTAT CTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCT ATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATCTAT CTATCTATGTATCTATCTATCTATCTCTCTATCTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706401	G G	GATAGATA others(1211): Show GATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGAGAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATAGATA CATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATAGATAGATACATACATACATACATACATACATA CATAGATAGATAGATACATAGATAGATAGATACATACATAGATAGATAGA TAGATAGATACATAGATAGATAGATACATACATACATAGATAGATAGATA CATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGATACA TAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATA GACAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATACA TAGATAGATAGATAGATACATAGAGATACATAGATAGATAGATACATACA TACATACATAGATACATAGATAGATAGATACATAGATAGATAGATAGATA CATACATACATACATACATAGATAGATAGATAGATACATAGATAGATACA TACATAGATAGATACATACATACATAAATAGATAGATACATAGATAGATA GATACATAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATACATAGATAGATACATAGATAGACAGATACATAGATA GATACATAGATACATAGATAGACAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGA TAGATAGATACATAGATACATACATAGATAGATAGATAGATAGATACATA CATACATACATACATACATAGATACATAGATAGATAGATACATAGATAGA TACATAGATAGATAGATAGATACATACATACATACATACATACATAGATA GATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATACATA GATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGATAGA TACATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0038 a0038	a0038c0055 a0038c0055	a0038c0055t0001 a0038c0055t0001	a0038c0055t0001g0293 a0038c0055t0001g0293	1	369	0.0027	1218	c.-49 others(1229): Show c.-4980_-4979insATAGATAGATACATAGATAGATAGATAGATAGAT ACATAGATAGAGAGATAGATAGATAGATACATAGATAGATAGATAGATAG ATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGAT AGATACATAGATAGATAGATAGATACATAGATAGATAGATACATACATAC ATACATACATACATACATAGATAGATAGATACATAGATAGATAGATACAT ACATAGATAGATAGATAGATAGATACATAGATAGATAGATACATACATAC ATAGATAGATAGATACATAGATACATAGATAGATAGATACATAGATAGAT AGATAGATAGATACATAGATACATAGATAGATAGATAGATAGATACATAG ATAGATACATAGATAGACAGATAGATAGATACATAGATAGATAGATAGAT AGATAGATAGATACATAGATAGATAGATAGATACATAGAGATACATAGAT AGATAGATACATACATACATACATAGATACATAGATAGATAGATACATAG ATAGATAGATAGATACATACATACATACATACATAGATAGATAGATAGAT ACATAGATAGATACATACATAGATAGATACATACATACATAAATAGATAG ATACATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGAT AGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAG ACAGATACATAGATAGATACATAGATACATAGATAGACAGATAGATAGAT AGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAG ATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATACATAGATAGATAGATACATAGATACATACATAGATAGATAG ATAGATAGATACATACATACATACATACATACATAGATACATAGATAGAT AGATACATAGATAGATACATAGATAGATAGATAGATACATACATACATAC ATACATACATAGATAGATAGATACATAGATAGATACATAGATAGATAGAT AGATACATAGATACATACATAGATAGATAGATAGATACATAGATAGATAG ATACATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGAC ACATAGATAGATAGATACATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4799		chr4	TogoVar
EVC_chr4_5706201_5819305	5706433	G G	GATACATA others(1211): Show GATACATAGATAGAGAGATAGATAGATAGATACATAGATAGATAGATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATACATA GATAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATACA TACATACATACATACATACATAGATAGATAGATACATAGATAGATAGATA CATACATAGATAGATAGATAGATAGATACATAGATAGATAGATACATACA TACATAGATAGATAGATACATAGATACATAGATAGATAGATACATAGATA GATAGATAGATAGATACATAGATACATAGATAGATAGATAGATAGATACA TAGATAGATACATAGATAGACAGATAGATAGAAACATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATAGATACATAGAGATACATAGATA GATAGATACATACATACATACATAGATACATAGATAGATAGATACATAGA TAGATAGATACATACATACATACATACATACATAGATAGATAGATAGATA CATAGATAGATACATACATAGATAGATACATACATACATAAATAGATAGA TACATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGA CAGATACATAGATAGATACATAGATACATAGATAGACAGATAGATAGATA GATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATA GATAGATACATAGATAGATACATAGATACATACATAGATAGATAGATAGA TACATACATACATACATACATAGATACATAGATAGATAGATACATAGATA GATACATAGATAGATAGATAGATACATACATACATACATACATACATACA TAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATA CATAGATACATACATAGATAGATAGATAGATACATAGATAGATAGATACA TAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGACACATA GATAGATACATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TACATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0006 a0006	a0006c0033 a0006c0033	a0006c0033t0004 a0006c0033t0004	a0006c0033t0004g0199 a0006c0033t0004g0199	1	369	0.0027	1218	c.-49 others(1229): Show c.-4948_-4947insATACATAGATAGAGAGATAGATAGATAGATACAT AGATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAG ATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGAT AGATAGATACATACATACATACATACATACATACATAGATAGATAGATAC ATAGATAGATAGATACATACATAGATAGATAGATAGATAGATACATAGAT AGATAGATACATACATACATAGATAGATAGATACATAGATACATAGATAG ATAGATACATAGATAGATAGATAGATAGATACATAGATACATAGATAGAT AGATAGATAGATACATAGATAGATACATAGATAGACAGATAGATAGAAAC ATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATACAT AGAGATACATAGATAGATAGATACATACATACATACATAGATACATAGAT AGATAGATACATAGATAGATAGATACATACATACATACATACATACATAG ATAGATAGATAGATACATAGATAGATACATACATAGATAGATACATACAT ACATAAATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGAT AGATACATAGATAGACAGATACATAGATAGATACATAGATACATAGATAG ACAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAC ATAGATAGATAGATAGATAGATACATAGATAGATACATAGATACATACAT AGATAGATAGATAGATACATACATACATACATACATAGATACATAGATAG ATAGATACATAGATAGATACATAGATAGATAGATAGATACATACATACAT ACATACATACATACATAGATAGATAGATAGATACATAGATAGATACATAG ATAGATAGATAGATACATAGATACATACATAGATAGATAGATAGATACAT AGATAGATAGATACATAGATACATAGATAGATAGATAGATACATAGATAG ATAGATAGACACATAGATAGATACATAGATAGATAGATAGATACATAGAT AGATACATAGATAGATACATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4767		chr4	TogoVar
FHIT_chr3_59742277_61256452	60551509	G G	GATGGGAG others(1211): Show GATGGGAGGGGGGAGGAGGGGAGATGGGAGGGGGGAGGAGGGGAGGGGAG GGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAG GGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAG GGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGA GGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGA AGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAG GGGAGGGGAAGGGGAGGGGAGAGGAGGGGGAGGGGAAGAAGGGGAGGAGA GGGGAGGGGAGGAGAGGGGAGGGGGAGGGGGGAGGAGGGGAGGAGAGGGG AGGGGGAGGGGGGAGGAGGGGAGGAGGTGTGGGGGGAGGGTGGAGGGGGA GGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGAG GGGGAGGAGGGGAGGGGAGGGGAGGGGAGCAGGGAGGAGGGGAGCGGGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGAGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGGAAGGGAGGGG GAGGAGGGGGGAGTAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGAGGG GAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGGGG AGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGG AGGGGAGGGGAGGGGGAGGAGGGGGGGAGGAGGGGGAGGAGGGGGGGAGG AGGGGGAGGAGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGGAGGAG GGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGG GAGGGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGA GGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGG GAGGAGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGGAGGA GGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGAGGGGGAGGAGGGGAGG GGGGAGGGGGAGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	46	0.0217	1218	c.-17 others(1237): Show c.-17-14531_-17-14530insTCCCCTCCTCCCCCTCCCCCCTCCCC TCCTCCCCCTCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCCTCCTCCC CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCTCCTCCCCTCCC CTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTC CCCTCCTCCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCCCTCCCCTCCT CCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCTCC CCCCTCCCCTCCCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCTCCTCCCC CCCTCCTCCCCCTCCTCCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCC CTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCTCCCCCCC TCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCTCCT CCTCCCCCCTCCTCCCCCTCCCCTCCCCTACTCCCCCCTCCTCCCCCTCC CTTCCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCTCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGC TCCCCTCCTCCCTGCTCCCCTCCCCTCCCCTCCCCTCCTCCCCCTCCCCT CCTCCCCGCTCCCCTCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCCT CCACCCTCCCCCCACACCTCCTCCCCTCCTCCCCCCTCCCCCTCCCCTCT CCTCCCCTCCTCCCCCCTCCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTC CCCTTCTTCCCCTCCCCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCC CCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTC CCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTC CCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCT CCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCT TCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCCCTCCTCCCCCCTCCCATCTCCCCTCCTCCCCCCTCCCAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)