Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C13orf46_chr13_113948705_113979076	113974180	C C	CTGGGGCG others(604): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTT CTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTG CGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTTCTGCGT CTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTTCTGCGTCTT CCCTTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCC TTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTC TTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTC TTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTT CCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC GCAGGCCGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG03834.hp1 NA18947.hp1 others(6): Show HG02273.hp1 HG03834.hp1 NA18947.hp1 NA18954.hp1 NA18971.hp1 NA18999.hp1 NA19074.hp2 NA19083.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0044 a0002c0002t0004 a0002c0002t0044	a0002c0002t0004g0012 a0002c0002t0004g0019 a0002c0002t0004g0068 others(2): Show a0002c0002t0004g0012 a0002c0002t0004g0019 a0002c0002t0004g0068 a0002c0002t0004g0071 a0002c0002t0044g0066	9	414	0.0217	611	c.-18 others(620): Show c.-184_-183insACCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAG AACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAAC CCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCG CCCCAGCCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCC CAGCCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAG CCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCC CGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGG CCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCT GCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCG GGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGA AAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAAAG AAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGAAAGAAG AAGGGAAGACGCAGAACCCGCCCCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding		105		chr13	TogoVar
C20orf96_chr20_265863_295750	279046	G G	GGGAGGGC others(604): Show GGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGA GGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGG GACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGA GGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGA GGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGG GAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGA CGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGA GGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGG GACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0041 a0002c0007t0001g0041	1	410	0.0024	611	c.465 others(626): Show c.465+125_465+126insGTCCCTCCCTCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTC CCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCC TCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCG TCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGC CCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCCTCCCTCCGTCCCGCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA1B_chr9_137872782_138129619	138126945	G G	GCCCCCGG others(604): Show GCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACC GTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAG GCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCA GGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCC GGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCT GCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGC AAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATG ACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGC GCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGC CAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG CCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0128 a0001c0002t0013g0128	1	248	0.0040	611	c.49 others(622): Show c.4946_*4947insCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCC AGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC CCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGT GAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGC CATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGG GGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGG CCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGC AGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAA GAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2327		chr9	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(604): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATATAATTATATATATATATAAAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATATAATTATATATA TAATTATATATATAATTTTATATATATAATTATATATATAATTTTATATA TATATAATTATATATATAATTTTATATATATAATTATATATATAATTTTA TATATATATAAT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	330	0.0030	611	c.907 others(626): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAATTATATATATATAAAATTATATATATAATTATATATATATAAAAT TATATATATAATTATATATATATAAAATTATATATATAATTATATATATA TAAAATTATATATATAATTATATATATAAAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAATTATATATATAAAAT TATATATAATATATATATATAATTATATATAATATATATATAATTATATA TATAATTTTATATATATATATAATTATATATATATATATAAATATATATA ATTATATATATAAAATTATATATATAATTATATATAATATATATAATTAT ATATATAATTTTATATATATATATAATTATATATATATAAATATATATAA TTATATATATATAAAATTATATATATAATTATATATATATAAAATTATAT ATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(604): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTC ACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCC TCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGAT CCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGCGGAGGGG GATCCTCCTCAGGGGGAGGGGGGATCCTCCTCAGGGGGAGGGGGGATCCT CACGGGGAGTGGGGATCCTCCAAGGGGAGGGGGGATCCTCACGGGGAAGG GGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGG AGGTGGATCCTCACGGGGAGGGGATCCTCATGGGGAGGGGGGATCCTCAG AGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGAT CCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0042 a0002c0004t0017g0042	1	58	0.0172	611	c.234 others(632): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTC CTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGG ATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAG GATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGA GGGGATCCTCAGGCGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATCCTC CTCAGGGGGAGGGGGGATCCTCACGGGGAGTGGGGATCCTCCAAGGGGAG GGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAGGGGGATCCTCAC GGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCCTC ATGGGGAGGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGG ATCCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(604): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTA CTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGG GGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGG AAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGG AGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAG GGTGCAGGTGGGGTGGGGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGTG GGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGGGGAG GGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02148.hp1 HG01934.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0246 a0001c0001t0001g0197 a0001c0001t0001g0246	2	284	0.0070	611	c.712 others(628): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCCCCACCCCACCTGCACCCTTCCCCCACCCCACC CCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCC CACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCACCCCT CCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCCTTCC CCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACC CCACCCCTCCCCCTCCCACCCCACCCCTCCCCAGCCCCACCCATACCCTT CCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCAC CCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACCC CTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAG CCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAG TAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(604): Show TGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	398	0.0025	611	c.666 others(626): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(604): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03710.hp2 HG02698.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0138 a0001c0001t0002g0139	2	398	0.0050	611	c.666 others(626): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(604): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCTCCCCTCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCT CCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	256	0.0039	611	c.-45 others(632): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCTCCCCTCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(604): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTATGGGAGAG TGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTA TGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTG TGTATGAGTGTGAGTATGGGTGTGTGTATGGGAGTGTGTGTATGGGAGTG TGAGTATGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAG TGTATGGGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGG GAGTGTGTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGG GTGTGTATGGGAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGG GAGTGAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGG GAGTGAGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGT GAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGT GAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02258.hp1 others(4): Show HG01109.hp2 HG02055.hp1 HG02258.hp1 HG02572.hp2 HG02717.hp2 HG03540.hp2 NA18522.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0006 a0002c0010t0001g0266 a0002c0010t0001g0267 others(2): Show a0002c0010t0001g0006 a0002c0010t0001g0266 a0002c0010t0001g0267 a0002c0010t0001g0269 a0002c0010t0001g0270	7	336	0.0208	611	c.341 others(628): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACTCACTCCCATACACACACACAC CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC ATACTCACACTCCCATACTCACTCCCATACACACCCATACTCACACTCCC ATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCATA CTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACACT CACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACACA CTCCCATACACACACCCATACTCACACTCATACACACACTCCCATACACA CACATACCCATACACTCCCATACACACACACTCATACACACACTCCCATA CACACACATACCCATACACTCCCATACACACACACTCTCCCATACACACC CATACTCACACTCCCATACACACACCCATACGCACACTCCCACTCACACT CACTCCCATACACTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255704	G G	GAAGGGGG others(604): Show GAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGG GCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGA AGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGC AGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0070 a0001c0007t0001g0070	1	344	0.0029	611	c.85- others(628): Show c.85-12971_85-12970insTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCT GCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCC TGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGC CTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(604): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCTGCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCATGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCCATGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGGCCCC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0224 a0008c0021t0001g0224	1	348	0.0029	611	c.928 others(626): Show c.928-442_928-441insCGTGTCACCTGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCATGTCACCCGCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGGCCCCCCATGTCACCCGCGTGTCACCCACAGATACACGGCCCC CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(604): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGG AGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGG GGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGGAGACAGA GGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	216	0.0046	611	c.923 others(630): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCC ACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCC CCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTC CATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCC TCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(604): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGG AGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGG GGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGGAGACAGA GGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	216	0.0046	611	c.923 others(630): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCC ACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCC CCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTC CATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCC TCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(604): Show GCTATAACCACCACCACCACCACTATAACCATCACCACCATCACCACTAT AACCACCACTACCACCACCACCACTATAACCACCACCACCACCACTATAA CCACCATCATCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCAC CACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCACCA CCACTACTGTAACCATCACCACCATCACCACTATAACCACCACCACCACC ACCACTATAATCATTACCACTATAACCACCACTACCACCACTACCACTAT GATAACCATCACCAACACCACTATAACCACCAATGCCAAGAAGTGTTCAT AGCAGGAGTCATAAACACAGGACCAACCAGGGATAGGACCAACCAGGACC AACCAGGACCAACACCACCACCACTACTACCACTACTATAACCATCACCA CCATCACTGCTATAATCACCACCACCACCACCATCACTATAATCATCACC ATCATCACCACTATAACCACCACCACCACCACCACCACCAGTTATAACCA TCACCACCACTA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18993.hp2 HG01934.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0116 a0001c0001t0001g0021 a0001c0001t0001g0116	2	230	0.0087	611	c.724 others(630): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TTATAGTGGTGATGGTGGTGATGGTTACAGTAGTGGTGGTGGTGATGATG ATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGT TATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATGA TGATGGTGGTTATAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTG GTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGT GGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(604): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGATGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTGGGATGTGGTG GGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTGGGAGATGGTG GGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	364	0.0028	611	c.127 others(626): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCT CCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCT CCGTCTCCCACCACTTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCGTCTCCCACCACCTCCCGCCATCTCCCACCACCTCTCACCATCTCCCA CCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCA CCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCA CCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCA CCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATA others(604): Show ATATAATATATATAATATATAATTATATAAAATATATAATATATTATATA TTATATATATTATATAAATATATAATATATTATATATAATTATATAAATA TATAATATATTACATATAATTATATAATATATATTATATATAATATATAA TTATATGTAATATATTATATATATTATATATTATATATATATTATATATA TAATATATTTTATATATTAAATTATATATAATATATATTATATATATAAT TTATATATATAAAATATATTATATATTATATAAATATATATATTTTATAT ATATAAAATATATATTTTATAATATATAATATAGAAATATATATTATATA ATATATAATTATATATAATTATATATTATATAATATATATTTCTATATTA TATATTTATAATGTATAATATATAAATATATTATAAATATATATTATATA CTATATAATGCATTATAAATATATTATATTTATATATTATAAATATATTA CATATTTATATATTATATATATAATATATATATTATATATTATAAATATA TTTTATAAAATATAATATATATATTATTATTATATTTTATAAAATATAAT AATAATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	220	0.0046	611	c.551 others(630): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATAATAATATATATATTATATTTTATAAAATATATTTATAATAT ATAATATATATATTATATATATAATATATAAATATGTAATATATTTATAA TATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATAT TTATAATATATTTATATATTATACATTATAAATATATAATATAGAAATAT ATATTATATAATATATAATTATATATAATTATATATTATATAATATATAT TTCTATATTATATATTATAAAATATATATTTTATATATATAAAATATATA TATTTATATAATATATAATATATTTTATATATATAAATTATATATATAAT ATATATTATATATAATTTAATATATAAAATATATTATATATATAATATAT ATATAATATATAATATATATAATATATTACATATAATTATATATTATATA TAATATATATTATATAATTATATGTAATATATTATATATTTATATAATTA TATATAATATATTATATATTTATATAATATATATAATATATAATATATTA TATATTTTATATAATTATATATTATATATATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATA others(604): Show ATATAATATATATAATATATAATTATATAAAATATATAATATATTATATA TTATATATATTATATAAATATATAATATATTATATATAATTATATAAATA TATAATATATTACATATAATTATATATTATATATTATATATAATATATAA TTATATGTAATATATTATATATATTATATATTATATATATATTATATATA TAATATATTTTATATATTAAATTATATATAATATATATTATATATATAAT TTATATATATAAAATATATTATATATTATATAAATATATATATTTTATAT ATATAAAATATATATTTTATAATATATAATATAGAAATATATATTATATA ATATATAATTATATATAATTATATATTATATAATATATATTTCTATATTA TATATTTATAATGTATAATATATAAATATATTATAAATATATATTATATA CTATATAATGCATTATAAATATATTATATTTATATATTATAAATATATTA CATATTTATATATTATATATATAATATATATATTATATATTATAAATATA TTTTATAAAATATAATATATATATTATTATTATATTTTATAAAATATAAT AATAATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp2 HG03225.hp2 others(4): Show HG02572.hp1 HG02922.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0018 a0001c0001t0036 a0001c0001t0038 others(4): Show a0001c0001t0018 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0002t0003 a0001c0004t0010 a0002c0003t0007	a0001c0001t0018g0006 a0001c0001t0036g0159 a0001c0001t0038g0161 others(4): Show a0001c0001t0018g0006 a0001c0001t0036g0159 a0001c0001t0038g0161 a0001c0001t0039g0211 a0001c0002t0003g0218 a0001c0004t0010g0005 a0002c0003t0007g0215	7	220	0.0318	611	c.551 others(630): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATAATAATATATATATTATATTTTATAAAATATATTTATAATAT ATAATATATATATTATATATATAATATATAAATATGTAATATATTTATAA TATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATAT TTATAATATATTTATATATTATACATTATAAATATATAATATAGAAATAT ATATTATATAATATATAATTATATATAATTATATATTATATAATATATAT TTCTATATTATATATTATAAAATATATATTTTATATATATAAAATATATA TATTTATATAATATATAATATATTTTATATATATAAATTATATATATAAT ATATATTATATATAATTTAATATATAAAATATATTATATATATAATATAT ATATAATATATAATATATATAATATATTACATATAATTATATATTATATA TAATATATAATATATAATTATATGTAATATATTATATATTTATATAATTA TATATAATATATTATATATTTATATAATATATATAATATATAATATATTA TATATTTTATATAATTATATATTATATATATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EHMT1_chr9_137614005_137841127	137716361	G G	GTGTTGGT others(604): Show GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGT GGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGT GTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01934.hp1 HG02129.hp2 others(3): Show HG00639.hp2 HG01934.hp1 HG02129.hp2 HG02273.hp1 HG02293.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0013 others(3): Show a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0019 a0001c0002t0001g0032 a0001c0002t0001g0065	6	170	0.0353	611	c.86- others(624): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGA GGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCGTG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(604): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	346	0.0029	611	c.-76 others(628): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGG AACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(604): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCTCAAGTTCCTATCAC TGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02071.hp2 HG02129.hp2 others(4): Show HG01515.hp2 HG02071.hp2 HG02129.hp2 HG02155.hp1 NA18968.hp1 NA18984.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0060 others(4): Show a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0096 a0001c0001t0001g0101	7	346	0.0202	611	c.-76 others(628): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCTCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGG AACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(604): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCTCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02273.hp2 HG02738.hp2 others(2): Show HG00423.hp1 HG02273.hp2 HG02738.hp2 NA19063.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0066 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0003g0100	5	346	0.0145	611	c.-76 others(628): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCTCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGG AACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(604): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02273.hp1 NA18955.hp2 others(8): Show HG00544.hp1 HG02273.hp1 NA18955.hp2 NA18963.hp1 NA18992.hp2 NA19011.hp2 NA19065.hp1 NA19066.hp2 NA19081.hp1 NA19083.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0196 others(8): Show a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0222	11	346	0.0318	611	c.-76 others(628): Show c.-76-2704_-76-2703insGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAA AGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGG AACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM3B_chr21_41311801_41362727	41313500	C C	CATACAGT others(604): Show CATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCAT ACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACA GTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATGATACAGTA TGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATGATACAGTATGT ATGCATGTCGCATTTGATCCATTCTTGAACCTCATGATACAGTATGTATG CATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCAT GTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTC GCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCA TTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTT GATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGAT CCATTCTTGAACCTCATGATACAGTATGTATGCATGTCGCATTTGATCCA TTCTTGAACCTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTC TTGAACCTCATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	314	0.0032	611	c.-33 others(622): Show c.-3380_-3379insATACAGTATGTATGCATGTCGCATTTGATCCATT CTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTT GAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAA CCTCATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCT CATGATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCAT GATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCAT ACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACA GTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTA TGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGT ATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATG CATGTCGCATTTGATCCATTCTTGAACCTCATGATACAGTATGTATGCAT GTCGCATTTGATCCATTCTTGAACCTCATGATACAGTATGTATGCATGTC GCATTTGATCCATTCTTGAACCTCATG	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3300		chr21	TogoVar
FBXO47_chr17_38931432_38972403	38946628	A A	AAATATAT others(604): Show AAATATATAAATAAAAATATATAAAAATATATACATATATAAATATAAAT ATATAATATATAAATATATAAATATATAAATATAAATATATAAAAATATA TAAATATATAAAAATATATAAATATATAAAAATATATAAATATATATAAA TATATATAAATATATAAATATATAAATATATATAAATATATAAATATATA AAAATATATAAATATATAAATATATAAAAATATATAAATACATAAATATA TAAATATATAAATATATATACATAAATATATAAATATATAAATATATAAA TATATAAATACATAATATATATAAATATAAAATATATATAATATATAAAA TATATTAAAAATATAAAAATATATATAAAAAATATATAAATATATAAAAA TATATAAAAAATATATACACATATAAATATATATAAAAATATATAAATAT ATATAAAAATATATAAATATATATTATATATAAATATATAATATATAAAT ATATACAATATATAAATATATATAAATATATACAATATATAAATATATAT AAATATATACAATATATAAATATATATAAATATATACAATATATAAATAT ATATAAATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	344	0.0029	611	c.617 others(628): Show c.617-1493_617-1492insATATATTTATATATATTTATATATTGTA TATATTTATATATATTTATATATTGTATATATTTATATATATTTATATAT TGTATATATTTATATATATTTATATATTGTATATATTTATATATTATATA TTTATATATAATATATATTTATATATTTTTATATATATTTATATATTTTT ATATATATTTATATGTGTATATATTTTTTATATATTTTTATATATTTATA TATTTTTTATATATATTTTTATATTTTTAATATATTTTATATATTATATA TATTTTATATTTATATATATTATGTATTTATATATTTATATATTTATATA TTTATATATTTATGTATATATATTTATATATTTATATATTTATGTATTTA TATATTTTTATATATTTATATATTTATATATTTTTATATATTTATATATT TATATATATTTATATATTTATATATTTATATATATTTATATATATTTATA TATTTTTATATATTTATATATTTTTATATATTTATATATTTTTATATATT TATATTTATATATTTATATATTTATATATTATATATTTATATTTATATAT GTATATATTTTTATATATTTTTATTTATATATT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCCTGC others(604): Show TCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTTCCTCGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCAC TCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCTCCTCGCTCTCTCCTCCTGCGTGGACGCCCCAC TTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0098 a0001c0002t0003g0098	1	408	0.0025	611	c.633 others(628): Show c.633-1163_633-1162insTCCTCCTCTCTCCTCCTGCGTGGACGCC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTTCCTCGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCAC TCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCTCCTCGCTCTCTCCTCCTGCGTGGACGCCCCAC TTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
LHPP_chr10_124456823_124619141	124507824	G G	GGGGTAGG others(604): Show GGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGG GAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTCGGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	260	0.0039	611	c.625 others(628): Show c.625-9356_625-9355insGGGTAGGGAGGATTTCAGGTGTGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(604): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCT CGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGG GATGGGTGTGCA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0142 a0002c0007t0001g0142	1	294	0.0034	611	c.153 others(630): Show c.1530-3001_1530-3000insTGCACACCCATCCCGAGACACCACTG CACACCCGTCCCGTGACACCACGCACACCCGTCCCGAGACACCACGCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCC CGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(604): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCT CGGGACGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGG GATGGGTGTGCA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19088.hp1 NA19011.hp1 NA19088.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0070 a0002c0016t0001g0076 a0002c0016t0001g0070 a0002c0016t0001g0076	2	294	0.0068	611	c.153 others(630): Show c.1530-3001_1530-3000insTGCACACCCATCCCGAGACACCACTG CACACCCATCCCGTGACACCACGCACACCCGTCCCGAGACACCACGCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCC CGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(604): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATAT ATAAATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATAT ATATAAATATATATATGTTTTGTAAATATATAAATATATATTTTGTAAAT ATATATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTAAA TATATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATATA TATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGTAT ATATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTGTA AATATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATATA AAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATATA AAAATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATATA TATATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATATA AATATATACATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01257.hp2 HG01109.hp2 HG01257.hp2	a0008 a0038 a0008 a0038	a0008c0009 a0038c0056 a0008c0009 a0038c0056	a0008c0009t0002 a0038c0056t0001 a0008c0009t0002 a0038c0056t0001	a0008c0009t0002g0296 a0038c0056t0001g0248 a0008c0009t0002g0296 a0038c0056t0001g0248	2	330	0.0061	611	c.197 others(630): Show c.1974+1124_1974+1125insTATGTATATATTTATATATTTACAAA ATATGTATATATTTATATATATTTACAAAATATATATATATTTACAAAAT ATATATATTTATATATTTACAAAATATATATATTTTTATATATTTACAAC ATATATTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAA ATGTATATATTTATATATTTACAAAATGTATATATTTACAAAATATATAT ACATATTTACAAAATATATATATTTACAAAATATATATACATATTTACAA AATATATATATTTACTATATATATTTACAAAATATATATATAATTTACAA TATATATATAATTCACAAAATATATATTTATATATATTTACAATATATAT TTACAAAATATATATATATTTACAAAATATATATATATTTACAAAATATA TATTTATATATTTACAAAACATATATATATTTATATATATTTACAAAACA TATATATTTATATATATTTACAAAACATATATTTATATATATTTACAAAA CATATATATTTATATATATTTACAAAACATATATATATTTATATATATTT ACAAAACATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(604): Show GAATATAATTATATAATATATAATTATATTCTATATAATATAATTATATA ATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTATA TTCTATATTATATAATTATAATATAATTATATAATATAATTATATTATAT ATAATTATATTAAATATATTATATAATATAATTATATTATATATTATATA ATATATAATTAAATTATATATTATATAATATATAATTATATTATATATTA TATAATATATAATTATATTATATATTATATAATATATAATTATATTATAT ATTATATAATATATAATTATATTATATATTATAATACATTTAATATAATT ATATTATAGATTATAATATATAATATAATTATATTAATAGTATTATAATA TATAATATATTATATATAATTATATTATAACATATTATATATAATTATAT TATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATATA ATTATATTCTATATATAATTATATATAATATAATTATATTCTATATAGAA TATAATTATATATAATTATATTCTATATAGAATATAATTATATATAATTA TATTCTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	288	0.0035	611	c.-32 others(622): Show c.-3223_-3222insGTATATAGAATATAATTATATATAATTATATTCT ATATAGAATATAATTATATATAATTATATTCTATATAGAATATAATTATA TTATATATAATTATATATAGAATATAATTATATATTATAACATATTATAT ATAATTATATTATAGATTATGATCTATAATATAATTATATATAATATGTT ATAATATAATTATATATAATATATTATATATTATAATACTATTAATATAA TTATATTATATATTATAATCTATAATATAATTATATTAAATGTATTATAA TATATAATATAATTATATATTATATAATATATAATATAATTATATATTAT ATAATATATAATATAATTATATATTATATAATATATAATATAATTATATA TTATATAATATATAATTTAATTATATATTATATAATATATAATATAATTA TATTATATAATATATTTAATATAATTATATATAATATAATTATATTATAT AATTATATTATAATTATATAATATAGAATATAATTATATATTATATAATT ATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGAA TATAATTATATATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(604): Show GAATATAATTATATAATATATAATTATATTCTATATAATATAATTATATA ATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTATA TTCTATATTATATAATTATAATATAATTATATAATATAATTATATTATAT ATAATTATATTAAATATATTATATAATATAATTATATTATATATTATATA ATATATAATTATATTATATATTATATAATATATAATTATATTATATATTA TATAATATATAATTATATTATATATTATATAATATATAATTATATTATAT ATTATATAATATATAATTATATTATATATTATAATACATTTAATATAATT ATATTATAGATTATAATATATAATATAATTATATTAATAGTATTATAATA TATAATATATTATATATAATTATATTATAACATATTATATATAATTATAT TATAGATCATAATCTATAATATAATTATATATAATATGTTATAATATATA ATTATATTCTATATATAATTATATATAATATAATTATATTCTATATAGAA TATAATTATATATAATTATATTCTATATAGAATATAATTATATATAATTA TATTCTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	288	0.0035	611	c.-32 others(622): Show c.-3223_-3222insGTATATAGAATATAATTATATATAATTATATTCT ATATAGAATATAATTATATATAATTATATTCTATATAGAATATAATTATA TTATATATAATTATATATAGAATATAATTATATATTATAACATATTATAT ATAATTATATTATAGATTATGATCTATAATATAATTATATATAATATGTT ATAATATAATTATATATAATATATTATATATTATAATACTATTAATATAA TTATATTATATATTATAATCTATAATATAATTATATTAAATGTATTATAA TATATAATATAATTATATATTATATAATATATAATATAATTATATATTAT ATAATATATAATATAATTATATATTATATAATATATAATATAATTATATA TTATATAATATATAATATAATTATATATTATATAATATATAATATAATTA TATTATATAATATATTTAATATAATTATATATAATATAATTATATTATAT AATTATATTATAATTATATAATATAGAATATAATTATATATTATATAATT ATATTCTATATAGAATATAATTATATATTATATAATTATATTATATAGAA TATAATTATATATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGGGG others(604): Show GAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAG GAGGGGGAAGAGGAAGGCGGAAAGGGGGAGGGGGAGAAGGGGAGGGGCAG GGGGAGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGA GGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGG AGGGGGGGGAGGGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGG TAGGGGGGAGGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGTGGAGGGGGA GGGGGAGGGAGGAGGGATGGGTGGAGGGGAGGGGGAGGGAGGGGAGGGGA GGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGAAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	272	0.0037	611	c.250 others(626): Show c.250+583_250+584insACCCTCCCTTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCTCCACCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCTCCCCTCCCCCTCCCCCCTACCCTCCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC CTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCT TTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTT TTCCCCCCTTCCCCGCCCCTTTTCCCCTCCCCCTGCCCCTCCCCTTCTCC CCCTCCCCCTTTCCGCCTTCCTCTTCCCCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCTCCTTCCCCCCTTCCCCCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(604): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGGCGTGGAGGAGGGGCGCGTGG AGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGG GGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGT GGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGAGCGTGGGGG GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGG GGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTG GAGGAGGGGCGCGTGGAGGGGGGTGGAGGAGGGGCGCGTGGAGGGGGGGA GCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCG TGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0023 a0023	a0023c0037 a0023c0037	a0023c0037t0001 a0023c0037t0001	a0023c0037t0001g0123 a0023c0037t0001g0123	1	388	0.0026	611	c.159 others(628): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGGCGTGGAGGAGGGGCGCGTGGAGG GGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGG GCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGAGCGTGGGGGGCG TGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGC GCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAG GAGGGGCGCGTGGAGGGGGGTGGAGGAGGGGCGCGTGGAGGGGGGGAGCG TGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGG AGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767629	A A	AGGGGCGC others(604): Show AGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTG GAGGAGGGGCGCGTGGAGGGGGCGCATGGGGGGGCGCATGGGGGGGCGTG GAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGC GTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGG GGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGG CGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGT CGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGA GGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCG CGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGC CGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGG GGGGTGTGGAGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	388	0.0026	611	c.159 others(628): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGAGGGGCGCGTGGAGGGGGCGCATGGGGGGGCGCATGGGG GGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGT GGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGG AGGAGGGGCGTGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGG CGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTG GAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCG TGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGC GCGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG AGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGG AGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGC GCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYDGF_chr19_4652545_4675342	4663552	C C	CCCACCCC others(604): Show CCCACCCCATCCTCATTCTACAGCCTCCAACCTGTGCACTCTCCACCCAC CCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCACCCCAT CCTCATTCTACAGCCTCCAATCTACCCTCCCCACCTCATCCTCATTCTAC AGCCTCCAGTATACCCTCCCCACCCACCCTGTCCTCATTCTACACAGTCT CCAATCTGTGCTCTCCCCACCCACCCCATCCTCATTCTACAAAGCCTCCA ATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTGTG CCCTCTCCACCCATCCCATCCTCATTCTACACAGCCTCCAATCTACGCTC CCATCCACCCCATCCTCATTCTACAGCATCCAATCTACTCTCCCCACCTA CCCCATCCTCATTCTACACAGCCTCCAATCTGTGCCCTCTCCACCCACCC CATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCCATCCTCAT TCTACAGCCTCCAACCTGTGCACTCTCCACCCACCCCATCCTCATTCTAC ACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTCTACAGCCTCCAA CCTGTGCACTCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	410	0.0024	611	c.287 others(628): Show c.287+1323_287+1324insAGAGTGCACAGGTTGGAGGCTGTAGAAT GAGGATGGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGG GTGGGTGGAGAGTGCACAGGTTGGAGGCTGTAGAATGAGGATGGGGTGGG GAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAGGG CACAGATTGGAGGCTGTGTAGAATGAGGATGGGGTAGGTGGGGAGAGTAG ATTGGATGCTGTAGAATGAGGATGGGGTGGATGGGAGCGTAGATTGGAGG CTGTGTAGAATGAGGATGGGATGGGTGGAGAGGGCACAGATTGGAGGCTG TAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTTTGTAGAA TGAGGATGGGGTGGGTGGGGAGAGCACAGATTGGAGACTGTGTAGAATGA GGACAGGGTGGGTGGGGAGGGTATACTGGAGGCTGTAGAATGAGGATGAG GTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGA GGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGAGAGTGCA CAGGTTGGAGGCTGTAGAATGAGGATGGGGTGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(604): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCC TTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCC CTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC AACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCC ACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGT CCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	378	0.0027	611	c.147 others(630): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGG GCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
PASK_chr2_241101099_241154472	241116001	C C	CGGTCCTC others(604): Show CGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCC CATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCC ACCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCAT CCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGG CCACCCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCCGGTCCCCAA GCATCCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTACACCA GGGCCACCCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCTC AAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATTACAC CAGGGACACCCGGTCCTCAAGCATCCCATTACACCAGGGACACCCGGTCC CCAAGCATCCCATTACACCAGGGACACCCGGTCCCCAAGCATCCCATTAC ACCAGGGGCCACCGGTCCTCAAGCATCCCATTACACCAGGGACACCCGGT CCCCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATT ACACCAGGGCCA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19084.hp1 NA19064.hp1 NA19084.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0185 a0001c0023t0001g0192 a0001c0023t0001g0185 a0001c0023t0001g0192	2	376	0.0053	611	c.307 others(628): Show c.3073-589_3073-588insTGGCCCTGGTGTAATGGGATGCTTGGGG ACCGGGTGGCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGTCCCTGGT GTAATGGGATGCTTGAGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGG GGACCGGGTGTCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGTCCCTG GTGTAATGGGATGCTTGAGGACCGGGTGTCCCTGGTGTAATGGGATGCTT GGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGGCCC TGGTGTAATGGGATGCTTGAGGACCGGGTGGCCCTGGTGTAATGGGATGC TTGAGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGC CCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCCTGGTGTAATGGG ATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGG TGGCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATG GGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCG GGTGGCCCTGGTGTAATGGGATGCTTGAGGACC	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(604): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCC TCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTT TCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTC TGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCT TCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCT CTCCCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCC TCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTC TCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCT CCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCCC CTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTC CCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0040 a0001c0001t0022g0040	1	210	0.0048	611	c.439 others(630): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCAC CTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCCTCTCTCCC CTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCC TTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCC TCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCT CTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCCTTCT CTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCAT CCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCC TCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCT CCCTCTTCCCTCTCTCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCTCC TTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(604): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGATGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTGGGATGTGGTG GGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTGGGAGATGGTG GGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	382	0.0026	611	c.-25 others(622): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCT CCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCA CCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCA CCACCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCA CCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGT CTCCCACCACTTCCCACCACCTCCCACCGTCTCCCACCACCTCCCGCCGT CTCCCACCACCTCCCGCCATCTCCCACCACCTCTCACCATCTCCCACCAC CTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCACCGT CTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCACCGT CTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCACCGT CTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCACTAC CTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392594	G G	GTGGTGAT others(604): Show GTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGG TAATGGTGATGATGGTGATGGTGATGGTGATGATGGTGGTGGTGGTGATA ATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGA TGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTG ATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGG TGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGA TGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTG ATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGT GATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA TGATGATGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	374	0.0027	611	c.-46 others(622): Show c.-4633_-4632insTGGTGATAATGGTGATGGTGGTGGTGGTGGTAAT GGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGG TGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGATGATG GTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTG GTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGAT GATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGG TGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTG ATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGA TGGGGGTGGTGGTAATGATGATGGTGA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4605		chr10	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(604): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATCG AGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAAA AATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGCC GAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTCT CAAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAG GCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGG ACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18999.hp1 HG03490.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0103 a0001c0001t0001g0104	2	366	0.0055	611	c.433 others(626): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTG TTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCG CCTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAG ACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTG ATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCAC CGCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAGCCGGGCGT GGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGA TCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCA TCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATA GTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(604): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CAAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAG GCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGG ACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(54): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00642.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02129.hp1 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02698.hp1 HG02735.hp2 HG03654.hp2 HG03669.hp1 NA18612.hp1 NA18939.hp2 NA18944.hp1 NA18950.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18970.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA19011.hp2 NA19067.hp1 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0020 others(36): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215	57	366	0.1557	611	c.433 others(626): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGT TGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCCCCGC CTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACC GCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCGT GGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGA TCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCA TCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATA GTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(604): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAG GCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGG ACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00673.hp1 others(55): Show HG00558.hp1 HG00609.hp1 HG00673.hp1 HG01070.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03927.hp1 NA18522.hp2 NA18944.hp2 NA18952.hp2 NA18971.hp1 NA18977.hp1 NA18983.hp2 NA18991.hp1 NA18994.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp2 NA19077.hp2 NA19080.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0039 others(42): Show a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0094 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0009 a0001c0001t0002g0046 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0246 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0005g0231 a0001c0001t0006g0184 a0001c0001t0008g0182 a0001c0001t0009g0220 a0002c0002t0001g0041 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0276 a0002c0004t0001g0274 a0002c0004t0001g0275	58	366	0.1585	611	c.433 others(626): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGT TGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGC CTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACC GCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCGT GGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGA TCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCA TCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATA GTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(604): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGGGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAG GCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGG ACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(57): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp2 HG02738.hp2 HG02897.hp1 HG03490.hp1 HG03492.hp2 HG03834.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18946.hp1 NA18947.hp1 NA18963.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp1 NA18991.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19070.hp2 NA19079.hp1 NA19084.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250	60	366	0.1639	611	c.433 others(626): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGT TGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGC CTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCACCCCCAGCTAATTTTTATACTTTTAATAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACC GCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCGT GGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGA TCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCA TCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATA GTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(604): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGGGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAG GCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGG ACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18942.hp1 NA18949.hp1 others(5): Show HG01192.hp2 NA18942.hp1 NA18949.hp1 NA18967.hp2 NA18970.hp2 NA18997.hp2 NA19009.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0003g0030 others(3): Show a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0151 a0001c0001t0003g0160	8	366	0.0219	611	c.433 others(626): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGT TGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGC CTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGAC TACAGGCGCCTGCCACCACCCCCAGCTAATTTTTATACTTTTAATAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACC GCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCGT GGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGA TCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCA TCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATA GTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(604): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	330	0.0030	611	c.-50 others(622): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RASA3_chr13_113972783_114137623	113974180	C C	CTGGGGCG others(604): Show CTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTG GGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGG CGGGTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGG GTTCTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTT CTGCGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTG CGTCTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTTCTGCGT CTTCCCTTCTTCTTTCCCGCAGGCCGGGGTTGGGGCGGGTTCTGCGTCTT CCCTTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCC TTCTTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTC TTCTTTCCTGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTC TTTCCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTT CCCGCAGGCCGGGGCTGGGGCGGGTTCTGCGTCTTCCCTTCTTCTTTCCC GCAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18971.hp1 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0030 a0001c0003t0003g0021 a0001c0003t0003g0030	2	67	0.0299	611	c.51 others(622): Show c.5166_*5167insACCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGC AGAACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGA ACCCGCCCCAGCCCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACC CGCCCCAGCCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGC CCCAGCCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCC AGCCCCGGCCTGCAGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAAC CCCGGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCC GGCCTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGC CTGCGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTG CGGGAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGG GAAAGAAGAAGGGAAGACGCAGAACCCGCCCCAGCCCCGGCCTGCGGGAA AGAAGAAGGGAAGACGCAGAACCCGCCCCAACCCCGGCCTGCGGGAAAGA AGAAGGGAAGACGCAGAACCCGCCCCA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		3602		chr13	TogoVar
RASA3_chr13_113972783_114137623	114099645	G G	GCCCCCAC others(604): Show GCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCACAGCCCC CACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCGTAGCC CCCACCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCC CACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCACAGC AGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCA CAGCAGCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCC CCACAGCAGCCCCCCGTAGCCCCCACCCCACAGCCCCCCCACAGCCCCCA CAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCC CCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCCCCCCCACAG CCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCACACAGCACC CCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCC ACAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCC CCCACAGCAGCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	67	0.0149	611	c.56- others(628): Show c.56-25809_56-25808insGGCTGCTGTGGGGGGCTGTGGGGGGGCT GTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGG GGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGTGCTGTGTGGGGGC TGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTG GGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTG TGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGG GCTGTGGGGTGGGGGCTACGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCT GTGGGGGGCTGTGGGGGGGCTGTGGGGGCTGCTGTGGGGGCTGTGGGGGG GCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGG GGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGC TGCTGTGGGGGCTGTGGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGC TGTGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGCT GCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RPH3AL_chr17_207389_357807	340556	C C	CCAGGCCT others(604): Show CCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGGCCTCCCCAC ATCCACACTCACTGCCTCCCACCCAGGCCTCCCCACGTCCACACTCACTG CCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGGC CTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACGTCCAC ACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCTCCC ACCCAGGCCTCCCCACATCCACACTCACTGCCCTGGGCCCAGGCCTCCCC ACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACGTCCACACTCAC TGCCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAG GCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCC AATCTCACTGCCCCGACCCAGGCCTCCCCACATCCACACTCACTGCCCCC CACCCAGGCCTCCCCACATCCACACTCACTGTCCCCCACCCAGGCTTCCC CACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCA CTGCCCCGGGCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03831.hp2 HG01255.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0091 a0001c0001t0004g0092 a0001c0001t0001g0091 a0001c0001t0004g0092	2	133	0.0150	611	c.-21 others(630): Show c.-212-6623_-212-6622insAGCCCGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAAGCCTGGGTG GGGGACAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTG TGGATGTGGGGAGGCCTGGGTCGGGGCAGTGAGATTGGATGTGGGGAGGC CTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCA GTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGT GGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGC CCAGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGT GTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAG GCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGG CAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGAC GTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGG GTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar

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Search Results (Total: 10000 hits)