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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Select column to sort.

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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
DOK7_chr4_3458306_3499482	3476128	T T	TCATGATG others(1035): Show TCATGATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCACCCCACCCGC CCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCAT GATGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCC ATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCAT GATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCGT GATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGTGA TGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCATGATG CCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCATGATG CCCTCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGATG CCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCC CTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGTGATGCC CTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCT CTCACCCCACCCGCCCGTGATGCCCTCTCACCCCACCCGCCCGTGATGCC CTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCATGATGCCCT CACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCGTGATGACCTCT CGCCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCATGATGCCCT CACCCCACCCGCCCGTGATGACCTCTCGCCCCGCCCGCCCGTGATGCCCT CTCGCCCCACCTGCCCGTGATGCCCTCTCACCCCACCTGCCCATGATGCC CTCTCACCCCGCCTGCCCATGATGCCCTCTCACCCCGCCTGCC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0229 a0001c0001t0005g0229	1	404	0.0025	1042	c.332 others(1057): Show c.332-200_332-199insACCCCGCCTGCCCATGATGCCCTCACCCCA CCCGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGTCCATGATGCCCTCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCG CCCATGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACC CGCCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCG CCCATGATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCG CCCGTGATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCC CGTGATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCA TGATGCCCTCACCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCA TGATGCCCTCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCA TGATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATG ATGCCCTCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCGTG ATGCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCATGAT GCCCTCTCACCCCACCCGCCCGTGATGCCCTCTCACCCCACCCGCCCGTG ATGCCCTCACCCCACCCGCCCGTGATGCCCTCACCCCACCCGCCCATGAT GCCCTCACCCCACCCGCCCATGATGCCCTCACCCCACCCGCCCGTGATGA CCTCTCGCCCCACCCGCCCATGATGCCCTCTCACCCCACCCGCCCATGAT GCCCTCACCCCACCCGCCCGTGATGACCTCTCGCCCCGCCCGCCCGTGAT GCCCTCTCGCCCCACCTGCCCGTGATGCCCTCTCACCCCACCTGCCCATG ATGCCCTCTCACCCCGCCTGCCCATGATGCCCTCTCACCCCGCCTGCCCA TGATGCCCTCTC	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(1035): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACAGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAAGTGGTGGGAGACGGAGAAGGTGGGATGTGGTGGGAGGTAGT GGGAGACACTGGCAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGTGGT GGGAGACGGTGGGAGACGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGT GGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGT GGGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGA GGTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAG GTGGCAGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02895.hp2 others(6): Show HG02109.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0001 a0001c0018t0001 a0001c0002t0001 a0001c0018t0001	a0001c0002t0001g0006 a0001c0018t0001g0070 a0001c0002t0001g0006 a0001c0018t0001g0070	9	364	0.0247	1042	c.127 others(1057): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCT CCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATCT GCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCA CCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCA CTGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCTGCCACCTCCCA CGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCCACCTCCCGC CGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTTCCCACCACC TCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCACC TCCCGCCGTCTCCCACCACCTCCCACCGTCTCCCACCGTCTCCCACCACC TCCCACCATCTCCCACGACCTCCCACCATCTGCCAGTGTCTCCCACTACC TCCCACCACATCCCACCTTCTCCGTCTCCCACCACTTCCCACCACCTCCC ACCACCTCCCACCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCC GCCGTCTCCCACCACCTCTCACCATCTCCCACCACCTCCCACCGTCTGCC AATGTCTCCCACTACCTCCCACCACATCCCACCGTCTCCGAGTGTCTCCC ACCACCTCCCACCGTCTCCTACCACCTGCCACCGTCTCCCACCACCTCCC ACCACTTCCCACTGTCTCCCACCACCTCCCACCGTCTGCCACCATCTCCC ACCACCTCCCACTGTCTGCCACTGTCTCCCACTACCTCCCACCATCTCCC ACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DYM_chr18_49031387_49465645	49203061	G G	GCCCCCCG others(1035): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACC CCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTAGGGGGGTCAGCCCTCCGCCCAGCCAACCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GAAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCCGGAAGGAGGTGGGGGGG TCAGCCCCGCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCCGTCCGGCCAGCCGC TCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCTGCCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGG GGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCGGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	290	0.0035	1042	c.162 others(1061): Show c.1625+6489_1625+6490insGCTGACCCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGAGCGGCTGGCCGGACGGGGGGGCCGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCGCGGGGCTGACCCCCCCACCTCCTTCCGGGACGGGGCGGCTGG CCGGGCAGAGGGGCTTCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGTTGGCTGGGCGGAGGGCTGACCCCCC TACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCC ATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGG CTGGCCGGGCGGGGGG	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49203112	C C	CGGCCGCC others(1035): Show CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCC CGTCCGGGAGGGAGATGGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGGAGGTAGGGGGGTCAGCCCTCCGCCCAGCCAACCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GAAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCCGGAAGGAGGTGGGGGGG TCAGCCCCGCGCCCGGCCAGCCGCCGTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGTCCGGCCAGCCGC TCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCGGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0128	1	290	0.0035	1042	c.162 others(1061): Show c.1625+6438_1625+6439insCGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCTGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGAGCGGCTGGCCGGACGGGGGGCCGACACCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACACGGCGGCTG GCCGGGCGCGGGGCTGACCCCCCCACCTCCTTCCGGGACGGGGCGGCTGG CCGGGCAGAGGGGCTTCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCAGACGGGGCGGTTGGCTGGGCGGAGGGCTGACCCCCC TACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCC CATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49203112	C C	CGGCCGCC others(1035): Show CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCC CGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGGAGGTAGGGGGGTCAGCCCTCCGCCCAGCCAACCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG AAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCCGGAAGGAGGTGGGGGGGT CAGCCCCGCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGTCCGGCCAGCCGCTC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCGGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0140 a0001c0001t0016g0140	1	290	0.0035	1042	c.162 others(1061): Show c.1625+6438_1625+6439insCGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCTGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGAGCGGCTGGCCGGACGGGGGGCCGACACCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGC TGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGGGCGCGGGGCTGACCCCCCCACCTCCTTCCGGGACGGGGCGGCTG GCCGGGCAGAGGGGCTTCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGCGGTTGGCTGGGCGGAGGGCTGACCCCC CTACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCC CATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
EVC2_chr4_5557439_5713559	5706453	C C	CATACATA others(1035): Show CATACATACATACATACATACATACATAGATAGATAGATACATAGATACA TACATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATA GATAGATACATAGATACATAGATAGATACATAGATAGATAGATAGATACA TAGATACATAGACAGATAGATAGATACATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATACA TAGAGATACATAGATAGATAGATAGATACATACATACATACATAGATACA TAGATAGATAGATAGATACATAGATACATACATACATAGATAGATAGATA GATACATAGATAGATACATACATACATAGATAGATAGATACATACATACA TAAATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATACATAGATAGACAGATACATAGATAGATACATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGA TACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATA CATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACATAGA TACATACATAGATAGATAGATACATACATACATACATACATACATAGATA CATAGATAGATAGATACATAGATACATAGATAGATAGATAGATACATACA TACATACATACATACATAGATACATAGATAGATAGATAGATAGATACATA GATAGATACATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGATA GATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAGA TACATAGATACATAGATAGATAGATACATAGATACATAGATAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0236 a0003c0006t0001g0236	1	292	0.0034	1042	c.228 others(1059): Show c.228+1832_228+1833insCTATCTATGTATCTATGTATCTATCTAT CTATGTATCTATGTATCTATCTATCTATGTATCTATCTATGTGTCTATCT ATCTATCTATGTATCTATCTATCTATCTATGTATCTATGTATCTATCTAT CTATGTATCTATCTATCTATCTATGTATGTATCTATGTATCTATCTATCT ATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATGTATCTAT GTATGTATGTATGTATGTATGTATCTATCTATCTATCTATGTATCTATGT ATCTATCTATCTATGTATCTATGTATGTATGTATGTATGTATGTATCTAT CTATCTATGTATGTATCTATGTATCTATCTATCTATGTATCTATCTATCT ATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATGTATCTAT CTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCT ATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCTGT CTATCTATGTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCT ATCTATCTATGTATCTATCTATCTATCTATCTATCTATGTATCTATCTAT GTATCTATCTATTTATGTATGTATGTATCTATCTATCTATGTATGTATGT ATCTATCTATGTATCTATCTATCTATCTATGTATGTATGTATCTATGTAT CTATCTATCTATCTATGTATCTATGTATGTATGTATGTATCTATCTATCT ATCTATGTATCTCTATGTATCTATCTATCTATCTATGTATCTATCTATCT ATCTATCTATGTATCTATCTATCTATCTATCTATCTATGTATCTATCTAT CTGTCTATGTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGT ATCTATGTATCTATCTATCTATGTATGTATGTATCTATCTATGTATCTAT CTATCTATCTATGTATGTATCTATGTATCTATCTATCTATGTATGTATGT ATGTATGTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706453	C C	CATACATA others(1035): Show CATACATACATACATACATACATACATAGATAGATAGATACATAGATACA TACATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATA GATAGATACATAGATACATAGATAGATACATAGATAGATAGATAGATACA TAGATACATAGACAGATAGATAGATACATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATACA TAGAGATACATAGATAGATAGATAGATACATACATACATACATAGATACA TAGATAGATAGATAGATACATAGATACATACATACATAGATAGATAGATA GATACATAGATAGATACATACATACATAGATAGATAGATACATACATACA TAAATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATACATAGATAGACAGATACATAGATAGATACATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGA TACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATA CATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACATAGA TACATACATAGATAGATAGATACATACATACATACATACATACATAGATA CATAGATAGATAGATACATAGATACATAGATAGATAGATAGATACATACA TACATACATACATACATAGATACATAGATAGATAGATAGATAGATACATA GATAGATACATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGATA GATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAGA TACATAGATACATAGATAGATAGATACATAGATACATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0073 a0001c0004t0001g0073	1	369	0.0027	1042	c.-49 others(1053): Show c.-4928_-4927insATACATACATACATACATACATACATAGATAGAT AGATACATAGATACATACATAGATAGATAGATAGATACATAGATAGATAC ATACATACATAGATAGATAGATACATAGATACATAGATAGATACATAGAT AGATAGATAGATACATAGATACATAGACAGATAGATAGATACATAGATAG ATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGAT AGATAGATAGATACATAGAGATACATAGATAGATAGATAGATACATACAT ACATACATAGATACATAGATAGATAGATAGATACATAGATACATACATAC ATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATAGAT AGATACATACATACATAAATAGATAGATACATAGATAGATACATAGATAG ATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATACATAGATAGACAGATACATAGATAGATAC ATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGAT AGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAG ATACATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGAT AGATAGATACATAGATACATACATAGATAGATAGATACATACATACATAC ATACATACATAGATACATAGATAGATAGATACATAGATACATAGATAGAT AGATAGATACATACATACATACATACATACATAGATACATAGATAGATAG ATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATAGAT ACATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAC ATAGATAGATAGATAGATACATAGATAGATAGATAGACACATAGATAGAT ACATAGATAGATAGATACATAGATACATAGATAGATAGATACATAGATAC ATAGATAG	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4747		chr4	TogoVar
GTPBP6_chrX_299759_323796	315691	C C	CGCAGACA others(1035): Show CGCAGACACACACACACACACACACACACAGTAAATACATCCCGACAGGG ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA AACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAG AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA CACACGCAGACACACACACACACACACAAACACACAGTAAATACATCCCG ACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACACAC AAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAGA CACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACAC ACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA AACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAG AGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATA CACACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGGG ACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGTA AACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACA CACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACACAC ACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACA CATACACACGCAGACACACACACACACACAAACACACAGTAAATACATCC CGACAGGGACAGACACACACACACAGAGACACACACAGAGACACACACAA ACACAGTAAACACATGCTGGCAGGGACACAAACACATACGCAG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0003 a0003	a0003c0038 a0003c0038	a0003c0038t0001 a0003c0038t0001	a0003c0038t0001g0097 a0003c0038t0001g0097	1	155	0.0065	1042	c.488 others(1057): Show c.488-393_488-392insCTGCGTATGTGTTTGTGTCCCTGCCAGCAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTG TCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGT CTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTA GTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCT GCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTG TGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGT GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTG TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA TTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGT GTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGT GTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTG TGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGT GTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTG TTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTA TTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTT GTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTG TGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGT GTGTGTGTCTGC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316177	C C	CACACAGA others(1035): Show CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA ACACATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACAC ACACACACACACACACACACACACACACAGTAAATACATCCCGACAGGGA CAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC CGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAA ACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAGA GACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATAC ACACGCAGACACACACACACACACACACAAACACACAGTAAATACATCCC GACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACACACA CAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACGCAG ACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACA CACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACAT CCCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACAC AAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACA GAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACAT ACACACGCAGACACACACACACACACACACAGTAAATACATCCCGACAGG GACAGACACACACACACAGACACACACACAGAGACACACACAAACACAGT AAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACAC ACACACACACACACACACACTAAATACATCCCGACAGGGACAG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0100 a0003c0004t0002g0100	1	155	0.0065	1042	c.487 others(1057): Show c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTAGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT GTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTG TGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGT TTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTAT TTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG TGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT GTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTG TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTG TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCTCTGTGTGTGTGTCTGT GTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTG TGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGT GTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT ATTTACTGTGTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT TGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC TGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT GTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTG CGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGT GTGTCTCTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
MGRN1_chr16_4619826_4695972	4648756	C C	CGGCTCCT others(1035): Show CGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCTC CGGGGCTCTTCCCGTGGTCACCTGGCTCCTCCTCCCGGGGGCTCTTCCCG TGGTCACCTGGCTCCTCCTCCCAGGGGCTCTTCCCCGTGGTCACCCGGCT CCTCCTCCCGGGGCTCTTCCCGTGGTTACCCGGGTCCTCCTCCCGGGGAC TCTTCCCATGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGTCA CCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCC CGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGT GGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCCGTGGTCACCCGGCTC CTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGC TCTTCCCGTGGTCACCCGGCTCCTCCTCTCCGGGGCTCTTCCCGTGGTCA CCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTC CCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTTACCCGGGT CCTCCTCCCGGGGACTCTTCCCATGGTCACCCGGGTCCTCCTCCCGGGGG CTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCA CCCGGCTCCTCCTCTCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTC CCGGGGGCTCTTCCCCGTGGTCACTCGGCTCCTCCTCCTGGGGGCTCTTC CCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGG CTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCCGG GGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGG TCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCCGTGGTCACCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0087 a0001c0004t0036g0087	1	334	0.0030	1042	c.89- others(1057): Show c.89-1592_89-1591insGCTCTTCCCGTGGTCACCCGGGTCCTCCTC TCCGGGGCTCTTCCCGTGGTCACCTGGCTCCTCCTCCCGGGGGCTCTTCC CGTGGTCACCTGGCTCCTCCTCCCAGGGGCTCTTCCCCGTGGTCACCCGG CTCCTCCTCCCGGGGCTCTTCCCGTGGTTACCCGGGTCCTCCTCCCGGGG ACTCTTCCCATGGTCACCCGGGTCCTCCTCCCGGGGGCTCTTCCCGTGGT CACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCT CCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCC GTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCCGTGGTCACCCGGC TCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGG GCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCCGGGGCTCTTCCCGTGGT CACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCC TCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTT CCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGTTACCCGG GTCCTCCTCCCGGGGACTCTTCCCATGGTCACCCGGGTCCTCCTCCCGGG GGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGCTCTTCCCGTGGT CACCCGGCTCCTCCTCTCCGGGGCTCTTCCCGTGGTCACCCGGCTCCTCC TCCCGGGGGCTCTTCCCCGTGGTCACTCGGCTCCTCCTCCTGGGGGCTCT TCCCGTGGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCC GGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCC GGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGT GGTCACCCGGCTCCTCCTCCCGGGGGCTCTTCCCCGTGGTCACCTGGCTC CTCCTCCCGGGG	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPDC1_chr9_137034463_137051177	137050087	C C	CGCCTGTC others(1035): Show CGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACC CACGACAAAGTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCC AGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTAT CCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACA AAGTTCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCAC CCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTAC CCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTC CCAGCCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCT GCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCC ACCCGCCTGTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGC CTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAA GTTCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCG CCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCCA CGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCA GCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	402	0.0025	1042	c.-40 others(1053): Show c.-4099_-4098insAGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAG GCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGA ACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGT AGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGT GGCTGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGT CGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCA GGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGG AACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGG TAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGGCAGGCG GGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACT TTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAGG GGCAGGCGGGTGGCTGGGAACTTTGTCGCGAGTAGGGGCAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGATAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAAGGGCAGG CGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAC TTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGAGTAG GGACAGGC	NPDC1	ENSG00000107281.10	transcript	ENST00000371601.5	protein_coding		3911		chr9	TogoVar
NXN_chr17_794310_984776	810293	C C	CGTTAAGA others(1035): Show CGTTAAGAGTCCGTGTGAGTGGCGTGCACGTTAAGAGTCCGTGTGAGTGG CGTGCACGTTACGAGTCTGTGAGCGGCGTGCACGTTACGAGTCTGTGAGC GGCGTGCACGTTACGAGTCTGTGAGCGGCGTGCACGTTAAGAGTCCGTGT GAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACGTTACGAGT CTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGA GTCTGTGAGTGGCGTGCACGTTACGAATCTGTGGGTGGCGTGCACGTTAC GAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACG TTACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGAATGGCGTG CACGTTACGAGTCTGTGAGTGGCGTGCACATTACGAGTCTGTGAGTGGCG TGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGT GGTGTGTACGTTACAAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGA GTGGCGTGCACATTACGAGTCTGTGAGTGGCGTGCACGTTACCAGTCCGT GTGAGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTACGTTACAA GTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTGA GTCCGTGTGAGTGGTGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTT ACGAGTCTGTGAGTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACG TTACGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTG CACGTTACGAGTCTGTGGGTGGTGTGCACGTTACGAGTCCGTGTGAGTGG CGTGCACGTTACAAGTCTGTGAGTGGTGTGCACGTTACGAGTCTGTGACT GGTGTGCACGTTACGAGTGCGTGTGAGTGGCGTGCACGTTACGAGTCCGT GTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTGCAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	242	0.0041	1042	c.821 others(1059): Show c.821-5047_821-5046insATGCACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACTCACACGCACT CGTAACGTGCACACCAGTCACAGACTCGTAACGTGCACACCACTCACAGA CTTGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACCCA CAGACTCGTAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGC CACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTAACGTGCAC ACCACTCACACGGACTCAACGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCACTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACACCACTCACACGGACTGGTAACGTGCACGCCACTCACAGACTCG TAATGTGCACGCCACTCACAGACTCGTAACGTGCACGCCATTCACAGACT TGTAACGTACACACCACTCACACGGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACGCCACTCACAGACTCGTAATGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCATTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACGCCACTCACAGACTCGTAACGTGCACGC CACTCACACGGACTCGTAACGTGCACGCCACCCACAGATTCGTAACGTGC ACGCCACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTAACGT GCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCGCTCACAGACT CGTAACGTGCACGCCGCTCACAGACTCGTAACGTGCACGCCGCTCACAGA CTCGTAACGTGCACGCCACTCACACGGACTCTTAACGTGCACGCCACTCA CACGGACTCTTAAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
PGBD5_chr1_230309490_230431332	230332040	A A	ACACACAC others(1035): Show ACACACACACACCATACCCATAACATAGACATGCACGTGTATACACACCA CACAAACATACAGACTACACACACCACACTATGTAAACATACATATACAC ACACCACACAGACCACACACACACCATGCCCATAACATAGACAAACACGT GTATACACACCACACAACATACAGACCACACACACCATACAAACTTACCA CACAACAATACACACACACCACACCCACCATACCACACATACCATACCAC ATACACACTCCACACCACAGTACACCACACCAATATAGACACACACCACA CCCACTATACCACACATACCATACCACATACACACTCCACACCACAGTAC ACCGCGCCAATATATACACACACCACACCCACCATACCACAAATACATAT CACATACACACTCCACACCAAATATATACACACGCACATCACAGAAACAT ACGTATCACATACTCCACACCGCATACAACACACCAACATAGACACACAC ACCACACCCACCATACCACACATACCATACCACATACACACTCCACACCA CAGTACACACCAATATATACACACACACTGCAGCCACCATACCACAAATA CATATCACATCCACACTCCACACCACACACACAAATATATACACACATGT GTCACAGAAACATACATATCACATACTCCACACCACATACAACACACCAA CATACACACACACCACACCCACCATACCACACATACCATACCACATACAC ACTCCACACCACAGTACACCACACCAATATAGACACACACACCACACCCA CCATACTACAAATACATATCACATCCACACTCCACACCACACAAATATAT ACACACGTCACAGAAACATACATATCACATTCTCCACACCGCATACAACA CACCAACATATACACACACACCACACCCACCATACCACACATACCATACC ACATACACACTCCACACCACAGTACACCACACCAATATATACACACACAC CACACACACCATGCCACCAAAAATACATATCACATACACACTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0125 a0001c0001t0112g0125	1	288	0.0035	1042	c.127 others(1059): Show c.1273+803_1273+804insGAGTGTGTATGTGATATGTATTTTTGGT GGCATGGTGTGTGTGGTGTGTGTGTATATATTGGTGTGGTGTACTGTGGT GTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGTGGTGTGT GTGTATATGTTGGTGTGTTGTATGCGGTGTGGAGAATGTGATATGTATGT TTCTGTGACGTGTGTATATATTTGTGTGGTGTGGAGTGTGGATGTGATAT GTATTTGTAGTATGGTGGGTGTGGTGTGTGTGTCTATATTGGTGTGGTGT ACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTG TGGTGTGTGTGTATGTTGGTGTGTTGTATGTGGTGTGGAGTATGTGATAT GTATGTTTCTGTGACACATGTGTGTATATATTTGTGTGTGTGGTGTGGAG TGTGGATGTGATATGTATTTGTGGTATGGTGGCTGCAGTGTGTGTGTATA TATTGGTGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGG TATGGTGGGTGTGGTGTGTGTGTCTATGTTGGTGTGTTGTATGCGGTGTG GAGTATGTGATACGTATGTTTCTGTGATGTGCGTGTGTATATATTTGGTG TGGAGTGTGTATGTGATATGTATTTGTGGTATGGTGGGTGTGGTGTGTGT ATATATTGGCGCGGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGTAT GTGTGGTATAGTGGGTGTGGTGTGTGTCTATATTGGTGTGGTGTACTGTG GTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGTGGTGT GTGTGTATTGTTGTGTGGTAAGTTTGTATGGTGTGTGTGGTCTGTATGTT GTGTGGTGTGTATACACGTGTTTGTCTATGTTATGGGCATGGTGTGTGTG TGGTCTGTGTGGTGTGTGTATATGTATGTTTACATAGTGTGGTGTGTGTA GTCTGTATGTTTGTGTGGTGTGTATACACGTGCATGTCTATGTTATGGGT ATGGTGTGTGTGTG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	5/6			chr1	TogoVar
PGBD5_chr1_230309490_230431332	230332040	A A	ACACACCA others(1035): Show ACACACCACACACACACACACCATACCCATAACATAGACATGCACGTGTA TACACACCACACAAACATACAGACTACACACACCACACTATGTAAACATA TACACACACCACACAGACCACACACACACCATGCCCATAACATAGACAAA CACGTGTATACACACCACACAACATACAGACCACACACACCATACAAACT TACCACACAATACACACACACCACACCCACCATACCACACATACCATACC ACATACACACTCCACACCACAGTACACCACACCAATATAGACACACACCA CACCCACTATACCACACATACCATACCACATACACACTCCACACCACAGT ACACCGCGCCAATATATACACACACCACACCCACCATACCACAAATACAT ATCACATACACACTCCACACCAAATATATACACACGCACATCACAGAAAC ATACGTATCACATACTCCACACCGCATACAACACACCAACATAGACACAC ACACCACACCCACCATACCACACATACCATACCACATACACACTCCACAC CACAGTACACACCAATATATACACACACACTGCAGCCACCATACCACAAA TACATATCACATCCACACTCCACACCACACACACAAATATATACACACAT GTCACAGAAACATACATATCACATACTCCACACCACATACAACACACCAA CATACACACACACCACACCCACCATACCACACATACCATACCACATACAC ACTCCACACCACAGTACACCACACCAATATAGACACACACACCACACCCA CCATACTACAAATACATATCACATCCACACTCCACACCACACAAATATAT ACACACGTCACAGAAACATACATATCACATTCTCCACACCGCATACAACA CACCAACATATACACACACACCACACCCACCATACCACACATACCATACC ACATACACACTCCACACCACAGTACACCACACCAATATATACACACACAC CACACACACCATGCCACCAAAAATACATATCACATACACACTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp2 NA18522.hp2 HG02965.hp2 HG02970.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0117 a0001c0001t0024g0118 a0001c0001t0024g0119 a0001c0001t0024g0117 a0001c0001t0024g0118 a0001c0001t0024g0119	3	288	0.0104	1042	c.127 others(1059): Show c.1273+803_1273+804insGAGTGTGTATGTGATATGTATTTTTGGT GGCATGGTGTGTGTGGTGTGTGTGTATATATTGGTGTGGTGTACTGTGGT GTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGTGGTGTGT GTGTATATGTTGGTGTGTTGTATGCGGTGTGGAGAATGTGATATGTATGT TTCTGTGACGTGTGTATATATTTGTGTGGTGTGGAGTGTGGATGTGATAT GTATTTGTAGTATGGTGGGTGTGGTGTGTGTGTCTATATTGGTGTGGTGT ACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTG TGGTGTGTGTGTATGTTGGTGTGTTGTATGTGGTGTGGAGTATGTGATAT GTATGTTTCTGTGACATGTGTGTATATATTTGTGTGTGTGGTGTGGAGTG TGGATGTGATATGTATTTGTGGTATGGTGGCTGCAGTGTGTGTGTATATA TTGGTGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGTGTGGTA TGGTGGGTGTGGTGTGTGTGTCTATGTTGGTGTGTTGTATGCGGTGTGGA GTATGTGATACGTATGTTTCTGTGATGTGCGTGTGTATATATTTGGTGTG GAGTGTGTATGTGATATGTATTTGTGGTATGGTGGGTGTGGTGTGTGTAT ATATTGGCGCGGTGTACTGTGGTGTGGAGTGTGTATGTGGTATGGTATGT GTGGTATAGTGGGTGTGGTGTGTGTCTATATTGGTGTGGTGTACTGTGGT GTGGAGTGTGTATGTGGTATGGTATGTGTGGTATGGTGGGTGTGGTGTGT GTGTATTGTGTGGTAAGTTTGTATGGTGTGTGTGGTCTGTATGTTGTGTG GTGTGTATACACGTGTTTGTCTATGTTATGGGCATGGTGTGTGTGTGGTC TGTGTGGTGTGTGTATATGTTTACATAGTGTGGTGTGTGTAGTCTGTATG TTTGTGTGGTGTGTATACACGTGCATGTCTATGTTATGGGTATGGTGTGT GTGTGTGTGGTGTG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	5/6			chr1	TogoVar
PKD1L3_chr16_71924538_72005402	71946849	G G	GGGGAGGG others(1035): Show GGGGAGGGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAT GGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGG GGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGACA AGGGGGAGAGAAGGGGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGGGAG AGGGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGGGGGGGAGAGGGGGAG AGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGG GGAGGAGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGG AGGGGGAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGGGAGAGGAGGGGGA GGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGG GGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGGAGGGGGAGAGGGGGAG AGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAG AGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGA GAGGGGGAAATGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTG AGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTG AGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCAAGGG CGAGAGAGAGAGAGGGCGGGCGAGAGAGGGCGGGCGAGAGAGAGGGCAGG CGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAG AGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGTCAAGAGAGAGAGAGAGGG CGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCG AGAGGGAGAGGGAGAGAAAGAGGGAGAGAAGGAGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0237 a0003c0004t0001g0237	1	308	0.0033	1042	c.371 others(1059): Show c.3718+642_3718+643insTCTCCCTCTCTCCTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGACCGCCCTCTCTCTCTC TCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCTCTCAC CCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCGCCCGC CCTCTCTCTCTCTCGCCCTTGCCCTCTCTCTCTTGCCCACCCTCTCTTTC TCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTC TCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCT TCCCATTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCT CCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTC TCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCTCCTCCCCCTCTC CCCCTCTCCCCCTCCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCTCC CCCTCCTCCCCCTCCTCCCCCTCCTCTCCCTCCCCTTCTCTCCCCTTCTC TCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTT CTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCC TTCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTC CCCTTCTCTCCCCCTCTCCCCCTCTCCCCCCCTCCCTTTCTCTCCCCCTC TCTCCCCCTCCCCCTCTCCCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTC CCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCC CCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCA TCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATC CCCTTCTCCCTCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(1035): Show AGGGGGATGTGGGAGATGAGGGGGACGCGGGGGACGGGGGGGACGGGGGG GACGGGGGGGACGGGGGGGATGGGGGGGACGCGGGGGACGCGGGGGACGG GGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGG GGCGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGACGGG GGGGACGGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGG ACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCG GGGGACGGGGGGGGACGCGGGGGACGCGGGGGGCGGGGGGGGCGGGGGGG GCGGGGGGGGCGGGGGGGACGGGGGGGACGCGGGGGGCGGGGGGGGGCGG GGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGG GGCGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGG GGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGAC GCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGG GGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGCG GGGGGGGCGGGGGGGGCGGGGGGGACGCGGGGGGCGCGGGGGGCGGGGGG GGCGGGGGGGGCGGGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGC GGGGGACGCGGGGGACGGGGGGGACGCGGGGGGCACGGGGGGGACGGGGG GGGCGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGAC GCGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGGGG GGGACGCGGGGGACGCGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGAC GGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGG GGACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGGACGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0171 a0002c0004t0001g0171	1	188	0.0053	1042	c.147 others(1059): Show c.1474-959_1474-958insGCGTCCCCCCCCGTCCCCCGCGTCCCCC GCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTC CCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCG CGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCC CCCCCGTCCCCCCGCGTCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCC CCGTCCCCCGCGCCCCCCCCGTCCCCCCCGTGCCCCCCGCGTCCCCCCCG TCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCC CCCGCCCCCCCCGCCCCCCCCGCCCCCCGCGCCCCCCGCGTCCCCCCCGC CCCCCCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCC GCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTC CCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCC CGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCC CCCCCGCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGT CCCCCGCGTCCCCCCCCGCCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCC CCCCGCCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCCCGCGTCCCCCGCG TCCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCC CCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCG TCCCCCCCCGTCCCCCCCGTCCCCCCGTCCCCCCCGTCCCCCGCGTCCCC CCCGTCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGT CCCCCCCGTCCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCATCCCC CCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCTCAT CTCCCACATCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(1035): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCT TTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCT TCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	312	0.0032	1042	c.306 others(1061): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCC CTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTC CCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(1035): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACAGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAAGTGGTGGGAGACGGAGAAGGTGGGATGTGGTGGGAGGTAGT GGGAGACACTGGCAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGTGGT GGGAGACGGTGGGAGACGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGT GGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGT GGGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGA GGTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAG GTGGCAGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02895.hp1 others(5): Show HG02109.hp1 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03579.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0001 a0005c0008t0001 a0002c0002t0001 a0005c0008t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0005c0008t0001g0016 a0002c0002t0001g0002 a0002c0002t0001g0010 a0005c0008t0001g0016	8	382	0.0209	1042	c.-25 others(1053): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCT CCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCA CCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCA CCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCTCCCA CCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATCTGCCA GTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCACCAC TTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCACTGT CTCCCACCACCTCCCACCACCTCCCACCGTCTCCTGCCACCTCCCACGTC TCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCCACCTCCCGCCGTC TCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTTCCCACCACCTCCC GCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCACCGTCTCCCACCGTCTCCCACCACCTCCC ACCATCTCCCACGACCTCCCACCATCTGCCAGTGTCTCCCACTACCTCCC ACCACATCCCACCTTCTCCGTCTCCCACCACTTCCCACCACCTCCCACCA CCTCCCACCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCGCCG TCTCCCACCACCTCTCACCATCTCCCACCACCTCCCACCGTCTGCCAATG TCTCCCACTACCTCCCACCACATCCCACCGTCTCCGAGTGTCTCCCACCA CCTCCCACCGTCTCCTACCACCTGCCACCGTCTCCCACCACCTCCCACCA CTTCCCACTGTCTCCCACCACCTCCCACCGTCTGCCACCATCTCCCACCA CCTCCCACTGTCTGCCACTGTCTCCCACTACCTCCCACCATCTCCCACGA CCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747531	G G	GCACTGGG others(1035): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0085 a0002c0002t0085	a0002c0002t0085g0205 a0002c0002t0085g0205	1	314	0.0032	1042	c.189 others(1057): Show c.189-794_189-793insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAA GGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(1035): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATACATA AAAATTATATATATATTATATATACATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATAATATATATATATAAAAATTATATATAT ATATTATATATATATAAAAATTATATATATATATTATATATATATAAAAA TCATATATATATATTATATATATATAAAAATTATATATATATATTATATA TATATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG02055.hp1 HG01256.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	272	0.0074	1042	c.29 others(1053): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATACATAAAAATTATATATATATTATATATACATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATAATATATATATAT AAAAATTATATATATATATTATATATATATAAAAATTATATATATATATT ATATATATATAAAAATCATATATATATATTATATATATATAAAAATTATA TATATATATTATATATATATAAAAATTATATATATATATTATATATATAT AAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
U2AF2_chr19_55650035_55679716	55670449	C C	CCCGTGCA others(1035): Show CCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCCGTGCACCCTGCTGTCCGTGCCCCTGCTGTCG TGCACCCTGCTGTTCCCGTGCACCATGCTGTCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTG CTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCGTGCACCCTGCTGTCCTGCACCCTGCTGTCCCGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCCCGTGCACCCTGCTGTCCCGTGCACCCCTGCTGTCCGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGGCT GTCCCTGCACCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCT GCACCCTGCTGTCCCTGCTCCCTGCTGTCCCTGCACCCTGCTGTCCCCTG CACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0312 a0001c0004t0005g0312	1	394	0.0025	1042	c.129 others(1059): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCCGTGCACCCTGCTGTCCGTGCCCCTGCTG TCGTGCACCCTGCTGTTCCCGTGCACCATGCTGTCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCC CTGCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCTGCACCCTGCTGTCCCGCACCCT GCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCCGTGCACCCCTGCTGTCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTG GCTGTCCCTGCACCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTG TCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTC CCTGCACCCTGCTGTCCCTGCTCCCTGCTGTCCCTGCACCCTGCTGTCCC CTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCC	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670466	C C	CCGTGCAC others(1035): Show CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCGGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCATGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTG TCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	394	0.0025	1042	c.129 others(1059): Show c.1293+775_1293+776insGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTG TCGGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCCATGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCT GTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGCACCCTGCTGT CCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCG TGCACCCTGCTGTC	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
ULK1_chr12_131889622_131928150	131917193	G G	GGGCTCGA others(1035): Show GGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCT TGGAGGCTGTGGGATGGGGGTCGGGATGGGGCTCGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCAGGTTCGGCTCGGA GGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGG CTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGC TCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGG GGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGG AGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGA GGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGAGGCTGTGGGATGGGGGTCGGGTG GGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGC TTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0002 a0002c0031t0002	a0002c0031t0002g0200 a0002c0031t0002g0200	1	344	0.0029	1042	c.218 others(1059): Show c.2182+135_2182+136insCGAGGCTGTGGGACGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGATGGGGCT CGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCAGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGC TCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGG GGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGA GGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGAGGCTGT GGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP2_chr11_119350215_119386690	119351506	C C	CTCCTCTC others(1035): Show CTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCT CTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCC CTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCC TCTCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCACTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTC CGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTC CCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTC CCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTC CCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTC CCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTC TCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTC CCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTC CCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTC CGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTC CCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTC CCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTC CCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0028 a0001c0003t0010g0028	1	202	0.0050	1042	c.53 others(1053): Show c.5328_*5329insCGGCAAGGGAGGAGAAAGGAGGGGAGGGGAGCCG TGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGAGGAG AGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAGAGG AGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGAGGGG AGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGG AAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGG AGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGG AGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGG AGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGG AAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGG AGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAG AGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGG AGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGG GGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAG GGAGGGGAGAGGAGTGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAG GGGAGGAGAGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGG AGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGG GGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGG AGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGG AGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGG AGAGAGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGG AGAGAGGA	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3708		chr11	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(1035): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTC CCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCC TCCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCC TCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCC CCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCC TCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCT CCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCC TCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCT CCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCC CCTCCCCTCTCCTCCGCTCCCCCTCCCCTCTCCTCCACTCCTCTCCCCTC CCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTC CCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCCT CCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0004	1	202	0.0050	1042	c.53 others(1053): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGG AGGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAG AGAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGGAGCGGAGGA GAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAG GAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGG GAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAG GAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGG GAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGGA GAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAG GGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGAGG AGGGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGG AGGGGAGGGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGG AGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGACAGAGGAGGA GAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(1036): Show ACACCCACACACCCATACACACACACACCAGACCCCCACACCCCCACACC CATACACACACACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACACACCCACACCCACCACACACCCCCACCACACCCA CATACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTA ATACACACACACCCCCACACCCTCCCACCCCCCCACACCCCCACCACACA CCAATACACACCCACACACCCCCTCACACACACACCCACACACCCATACA CACACCCACCACACACCCATACATACACACCCCCACACCCCCTCACACCC TTCCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACA CACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACAC CCTCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCAT ACACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCA CACACCCTCCCCCCTCACCCATACACAACCCCCACCACACCCCCACACCC ATACACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCT CACACACCCTCCCCCCTCACCCATACACAACCCCCACCACACCCCCACAC CCATACACACACACACCCCCACCACACCCATACACACACCCCTGCACCCC CTCACACACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCA CCACACCCATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACA CCTATCCCCACCACACACCCATACACACACACCCACACACACACCACACC CATACACACACATACCCCCACACCCCCACACACACCCTCCCTCACACACA CCCCCACCACACACCCATACACACCCCAACCCCCCCCACACACC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG02080.hp2 others(4): Show HG00558.hp1 HG00609.hp2 HG02080.hp2 HG02155.hp1 NA18969.hp2 NA19011.hp1 NA19060.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0002 a0001c0003 a0003c0008 others(2): Show a0001c0002 a0001c0003 a0003c0008 a0004c0006 a0005c0018	a0001c0002t0001 a0001c0003t0001 a0003c0008t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0003c0008t0001 a0004c0006t0001 a0005c0018t0001	a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0003t0001g0134 others(4): Show a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0003t0001g0134 a0003c0008t0001g0099 a0003c0008t0001g0141 a0004c0006t0001g0192 a0005c0018t0001g0212	7	248	0.0282	1043	c.387 others(1062): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGGTTGGGGTGTGT ATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTG GGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGG GTGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGT GTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTG GGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGG GGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGT GAGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGT GGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGG GTGAGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTG GTGGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTA TGGGTGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGG GTGTGGTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTG TATGGGTGAGTGGGGGAAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTAT GGGTGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGG TGTGTGGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGT GTGGGGGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGG TGGGGGTGTGGGTGTATGTGGGTGTGGTGGGGGTGTGTGGTGGGTGTGGG TGTGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGT GGGGGTGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGG TGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGT GTATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(1036): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACCCCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACAAACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTC CCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCATACAC ACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACC CTCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCATA CACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCAC ACACCCTCCCCCCACTCACCCATACACAACCCCCACCACACCCCCACACC CATACACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCC TCACACACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCAC CACACCCATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACAC CCATCCCCACCACACACCCATACACACACACCCACACACACACCACACCC ATACACACACATACCCCCACACCCCCACACACACCCTCCCTCACACACAC CCCCACCACACACCCATACACACCCCAACCCCCCCACACACACC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02257.hp1 HG01975.hp2 HG02257.hp1	a0001 a0002 a0001 a0002	a0001c0044 a0002c0060 a0001c0044 a0002c0060	a0001c0044t0004 a0002c0060t0004 a0001c0044t0004 a0002c0060t0004	a0001c0044t0004g0117 a0002c0060t0004g0022 a0001c0044t0004g0117 a0002c0060t0004g0022	2	248	0.0081	1043	c.387 others(1062): Show c.3871-3767_3871-3766insGGTGTGTGTGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATG GGTGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGG TGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGT GGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTG GGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGG TGAGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGT GGTGGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGT ATGGGTGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATG GGTGTGGTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTG TGTATGGGTGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGT ATGGGTGTGGTGGGGGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTG TGTATGGGTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTTTGTATGT ATGGGTGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGG GGTGTGTGGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGG GTGTGGGAGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGT GGTGGGGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTG TGGGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGT GGGGGTGGGAGGGTGTGTGTGGGGGTGTGGGGGTGTGTGGTGGGTGTGGG TGTGGGTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGT GTGTGTGTGTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1036): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGCCGGGC ATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACT CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGT TTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCA TGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGG GAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCA GAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAG TAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAG CAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGA GCAAAGCAAAACATCTGCATAAAACTAAATTTTTATATATATATATATAT ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCG CCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	318	0.0031	1043	c.285 others(1062): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAT GAGGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTT TTTGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGA ATAAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGT AACCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTT AAAACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAG TGACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTG CCTGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTTTATAT ATATATATATATATATATATATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGAGCCCGCCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTG ATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1036): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGCCGGGC ATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACT CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTT TCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCAT GGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGG AGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAG AAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGT AGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGC AGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAG CAAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATA TATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCG CCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0115 a0001c0006t0008g0115	1	318	0.0031	1043	c.285 others(1062): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAATG AGGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTT TTGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAA TAAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTA ACCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTA AAACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGT GACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGC CTGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATA TATATATATATATATATATATATATATATATATATATATATATATTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGAGCCCGCCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTG ATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1036): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGCCGGGC ATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACT CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTTT CTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCATG GGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGGA GAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAGA AGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGTA GGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGCA GGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAGC AAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCG CCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0227 a0001c0002t0002g0227	1	318	0.0031	1043	c.285 others(1062): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGA GGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTT TGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAAT AAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAA CCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAA AACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTG ACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCC TGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATAT ATATATATATATATATATATATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGAGCCCGCCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTG ATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1036): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGCCGGGC ATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACT CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTTT CTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCATG GGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGGA GAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAGA AGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGTA GGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGCA GGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAGC AAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATAT ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCG CCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02976.hp1 HG02630.hp2 HG02647.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0194 a0001c0002t0002g0214 a0001c0002t0002g0260 a0001c0001t0004g0194 a0001c0002t0002g0214 a0001c0002t0002g0260	3	318	0.0094	1043	c.285 others(1062): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGA GGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTT TGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAAT AAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAA CCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAA AACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTG ACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCC TGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATAT ATATATATATATATATATATATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGAGCCCGCCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTG ATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1036): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAATTAGCCGGGC ATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACT CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTTT CTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCATG GGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGGA GAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAGA AGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGTA GGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGCA GGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAGC AAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATAT ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCG CCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0215 a0001c0002t0002g0215	1	318	0.0031	1043	c.285 others(1062): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGA CAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGA GGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTT TGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAAT AAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAA CCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAA AACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTG ACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCC TGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATAT ATATATATATATATATATATATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGAGCCCGCCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTG ATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID2_chr12_45724706_45913037	45781372	T T	TTGGCCAG others(1036): Show TTGGCCAGGCACGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCT GAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAACAT GGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAAAAATTAGCCGGG CATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGAC TCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATGAGGGCATTAGTT TCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTTTTGCGTCTCCAT GGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAATAAGCAAGTGGG AGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTAACCTAATCTCAG AAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTAAAACAAGTCAGT AGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGTGACATGAATAGC AGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGCCTGCCTGAAGAG CAAAGCAAAACATCTGCATAAAACTAAATTTATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCG CCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0262 a0002c0003t0001g0262	1	318	0.0031	1043	c.285 others(1062): Show c.285-30035_285-30034insGGTGGCTCACGCCTGTAATCTCAGCA CTTTGGGAGGCTGAGGTGGGCGGATCATGAGGTCAGGAGATTGAGACCAT CCTGGCTAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAAAAAAA AAATTAGCCGGGCATGGTGGAGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGTGTGAACCCGGGGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGCG ACAGAGCTAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATG AGGGCATTAGTTTCTTGCTAGCTGTTGGCTGGAGGGCCTCCCTCAGTTTT TTGCGTCTCCATGGGGCAGCTCACTGTAGGACAACTGTTTTTCTTCAGAA TAAGCAAGTGGGAGAGAAAAAGAACAAGATGGAAGTTGAGTCTTTATGTA ACCTAATCTCAGAAGTGACATCTTACCACTTCTGTTGTCTTCTGATCTTA AAACAAGTCAGTAGGTTTATCCTCTACTCAAGGGGAAAGAATTATGCAGT GACATGAATAGCAGGAGTCAGGAATCATTGGGAGCCTTCTTAGAAGCTGC CTGCCTGAAGAGCAAAGCAAAACATCTGCATAAAACTAAATTTATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGAGCCCGCCACCACTCCCAGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTG ATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCTGGCCAGGCAC	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP10B_chr5_160558120_160857211	160652889	T T	TTATACAA others(1036): Show TTATACAATATATAATGTATTGCATATAGATTGTACATACGTGTACATAC AATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATA TAGATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATA CGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAA TGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATA GATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACG TGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATG TATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGA TTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTG TACATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTA TTGCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGATT GTACATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTA CATACAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATT GCATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGATTGT ACATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTACA TACAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGC ATATAGATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTAC ATACGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTACATA CAATGTATTGCATATAGATTGTACATACGTGTACATACAATGTATTGCAT ATAGATTGTACATACGTGTACATACAATGTATTGCATATAGATTGTACAT ACGTGTACATACAATGTATTGCATATAGATTGTACATACGTGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0220 a0002c0003t0006g0220	1	236	0.0042	1043	c.676 others(1060): Show c.676-3634_676-3633insTACACGTATGTACAATCTATATGCAATA CATTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACA CGTATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATC TATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACA TTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACG TATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTA TATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATT GTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTA TGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATA TGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGT ATGTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTATG TACAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATATG CAATACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGTAT GTACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTATGTA CAATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCA ATACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGT ACACGTATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACA ATCTATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAAT ACATTGTATGTACACGTATGTACAATCTATATGCAATACATTGTATGTAC ACGTATGTACAATCTATATGCAATACATTGTATGTACACGTATGTACAAT CTATATGCAATACATTGTATGTACACGTATGTACAATCTATATGCAATAC ATTATATATTGTATA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(1036): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGG AGATGGTGAGGGGAGGGAGGGAGGGGAGAGGGGTGGGGGAGGGAGGGGAG AGGGTAGGGGAGGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGAGGA GGGGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGAGGGAGGGG AGAGGGGAGGGAGGGGAGCGGGTAGGGGGAGGGAAGGAGGGGAAATGGTA TGGGAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAGGGAGCAGAGGGGGAA AGGGTAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGGAGGGGAG GGGGAGAGGGTAGGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGGAGA CGGTAGAGGAGGGAGGAGGGGAGAGGGTAGGGGAGGGAGGAAGAGGAGGG GGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGG AGAGGGTAGGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAG AGGAGAGGGGAGGGAGGGAGGGGAGGCGGGGCGAGGGTAGGAGGGCGGGA GAGGCGAGGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAG GGAGAGGAGGGGCGAGGGTAGGGGAGGGAAGGAGGAGAGGGTAGAGGAGG GAGGAGGGGAGAGGGGAGGGGAGGGCAGGAAGAGGAGGGGAGAGGGGTAG GGAGGGAGAGGAGAGGGGGAGGGAGGGGTGGAGGGGAGAGGGTAGGGAGG GAGGAGCGGAGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAG GAGAGGAGAGGGGAGGGAGGCGAGGGGAGGGAGGGGCGAGGGCTAGGGAG GGAGGGAGAGAGGAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGA GGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGGAGGAAGGGAGAGGGTAGG GAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0041 a0041	a0041c0079 a0041c0079	a0041c0079t0001 a0041c0079t0001	a0041c0079t0001g0274 a0041c0079t0001g0274	1	278	0.0036	1043	c.328 others(1060): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTACCCTCTCCCTTCCTCCCCTCCCTCCCTACC CTCTCCCCTCCTGCCCTCCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTC CCTCCTCTCTCCCTCCCTCCCTAGCCCTCGCCCCTCCCTCCCCTCGCCTC CCTCCCCTCTCCTCTCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCT CCCTCCTCCGCTCCTCCCTCCCTACCCTCTCCCCTCCACCCCTCCCTCCC CCTCTCCTCTCCCTCCCTACCCCTCTCCCCTCCTCTTCCTGCCCTCCCCT CCCCTCTCCCCTCCTCCCTCCTCTACCCTCTCCTCCTTCCCTCCCCTACC CTCGCCCCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCT CCCTCCCCCTCGCCTCTCCCGCCCTCCTACCCTCGCCCCGCCTCCCCTCC CTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCT CCCTCCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCCTCTCCTCTCCCTC CCTCCCTACCCTCTCCCCCTCCTCTTCCTCCCTCCCCTACCCTCTCCCCT CCTCCCTCCTCTACCGTCTCCCCCTCCTTCCCTCCCCTACCCGCTCCCCT CCCCTACCCTCTCCCCCTCCCCTCCCTACCTCCCCTACCCTCTCCCTTCC TTCCCTCCCCTACCCTTTCCCCCTCTGCTCCCTCTCTCCCCTACCCTCTC CCCTCCCTCCCTCCCATACCATTTCCCCTCCTTCCCTCCCCCTACCCGCT CCCCTCCCTCCCCTCTCCCCTCCCTCCTCTTTCCTCTCCCCTCCCTGCGT CCCCTCCCTTCTCCCCTCCTCTCCCTCCCTACCCTCTCCCCTCCTCTTCC TCCCCTCCCCTACCCTCTCCCCTCCCTCCCCCACCCCTCTCCCCTCCCTC CCTCCCCTCACCATCTCCCCTGCCTCCCCTCACCCTCTCTCCTGCCTCCC CAGACCTGTCCCCTC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CRTC3_chr15_90524923_90650345	90647402	C C	CCCTCCTC others(1036): Show CCCTCCTCCTCCACAATCCTCCTCCACACCTCTCCTCCTCAATCCTCCTC TCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAAT CCTCCTCTTACTCCACACCCCTCCTCCAACCCCTCCTCCACAGACCTCCC TCTCGTCCACACCCCTCCAATTCCACAGCCCTCCTCCACCTCCACACACC CAATCCTCCTCCAGTCCTCCTCCTCCACACACCTTCTCCTCCACACACCT TCTCCTCCACACACCTTCTCCTCCACACCTCACCTCCTCCTGCACACCCC TACCCCACCGCACCCCTCCCCCTCCTCCTCCACACTCACTCAACACCCCT CCTCCTCCTCATCCCTCCCCTTTCACACCCCTCCTCAACTTCCACACCCC TCCCCCTCCTCACCCCTCCCACTTCAACTCTCCTCCTCACCCCTCCTCCT CTGCCACACCCCTACTCCTCCTCACCCATCCTCCTCCACACCCCTTCTAT TCCACCACTCCCCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACTCT TACCCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCTCC ACACCCCTCCTCTTCCTCCTCCACACCCCTCCTTCTCAACCCTCCTCCTC CTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCC TTGCCCCTCCTCCTCACCCTTTGTCCTACTCCACACCCCTTCTCCTCCTC CATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCC TTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTC CTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCT CCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACA TCCCTCCCCCTCCATCCCCTCCACACCCCTCCTCCTCCTCACCCCGTCTC CTCCTCCACACCCCTCCTCCTCCATACCCCTCCTCCACCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0196 a0002c0002t0015g0196	1	276	0.0036	1043	c.52 others(1054): Show c.5262_*5263insCCTCCTCCTCCACAATCCTCCTCCACACCTCTCC TCCTCAATCCTCCTCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCC CTCCTCCTCCACAATCCTCCTCTTACTCCACACCCCTCCTCCAACCCCTC CTCCACAGACCTCCCTCTCGTCCACACCCCTCCAATTCCACAGCCCTCCT CCACCTCCACACACCCAATCCTCCTCCAGTCCTCCTCCTCCACACACCTT CTCCTCCACACACCTTCTCCTCCACACACCTTCTCCTCCACACCTCACCT CCTCCTGCACACCCCTACCCCACCGCACCCCTCCCCCTCCTCCTCCACAC TCACTCAACACCCCTCCTCCTCCTCATCCCTCCCCTTTCACACCCCTCCT CAACTTCCACACCCCTCCCCCTCCTCACCCCTCCCACTTCAACTCTCCTC CTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTCCT CCACACCCCTTCTATTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCT CCTCCTCCACACTCTTACCCCTCCACACCCCTCCTCTTCCTCCTCCACAC CCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCTCCTTC TCAACCCTCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTT CCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTACTCCACA CCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACC CCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCA TCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTC ACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACAC CCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCTCC TCCTCACCCCGTCTCCTCCTCCACACCCCTCCTCCTCCATACCCCTCCTC CACCTCACA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2058		chr15	TogoVar
CYLC1_chrX_83856146_83891698	83878047	T T	TATAAATA others(1036): Show TATAAATATATATAAATATATATAAAAATATATATATAAATATATATAAA TATATATAAAAATATATATAAATATATATAATATATATATAAAAATATAT ATTATATATATTATATATATAAATATATATATAAAAATATATATTATATA TATTATATATATAAATATATATATAAAAATATATATTATATATATTATAT ATATAAATATATATATAAAAATATATATTATATATATTATATATATAAAT ATATATATAAAAATATATATTATATATATTATATATATAAATATATATAT ATAAATATATATTATATATATTATATATATAAATATATATATAAATATAT ATTATATATATTATATATAATATATATATAAAATATATATAAATATATAT AAATATATATAAAATATATAAATATATATAAAAATATATATAAAATATAT AAATATATATAAAAATATATATATAAATATATATATAAAAATATATATAA AAATATGTATATAATATATATATGAAAATATATATAAAAATATATATATA AATATATATCAATATATATATAAAATATATATAAATATATATATAAAATA TATATATAAAATATATATAAATACATATATAAATATATATATAAATATAT ATAAATATATATATATAAAATATATATAAAATATATATATAAAAATATAT ATAAAAATATATATATAAAATATATATAAAAATATATATATAAAATATAT ATAAAAATATACATATAAAATATATATAAAAATATACATATAAAATATAT ATAAAAATATATATATAAAATATATATAAAAATATATATATAAAATATAT ATAAAAAAATATATAAATATATATAAATATATATAAATATATAAAAACAT ATATAAATATATAAATATATATAAATATATAAATATATATATGAATATAT AAATATATATAAATATATATAAATATATATATAAATATATAAATATATAT AAATATATATATAAATATATAAATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	208	0.0048	1043	c.192 others(1062): Show c.1923+3419_1923+3420insAATATATATAAATATATATAAAAATA TATATATAAATATATATAAATATATATAAAAATATATATAAATATATATA ATATATATATAAAAATATATATTATATATATTATATATATAAATATATAT ATAAAAATATATATTATATATATTATATATATAAATATATATATAAAAAT ATATATTATATATATTATATATATAAATATATATATAAAAATATATATTA TATATATTATATATATAAATATATATATAAAAATATATATTATATATATT ATATATATAAATATATATATATAAATATATATTATATATATTATATATAT AAATATATATATAAATATATATTATATATATTATATATAATATATATATA AAATATATATAAATATATATAAATATATATAAAATATATAAATATATATA AAAATATATATAAAATATATAAATATATATAAAAATATATATATAAATAT ATATATAAAAATATATATAAAAATATGTATATAATATATATATGAAAATA TATATAAAAATATATATATAAATATATATCAATATATATATAAAATATAT ATAAATATATATATAAAATATATATATAAAATATATATAAATACATATAT AAATATATATATAAATATATATAAATATATATATATAAAATATATATAAA ATATATATATAAAAATATATATAAAAATATATATATAAAATATATATAAA AATATATATATAAAATATATATAAAAATATACATATAAAATATATATAAA AATATACATATAAAATATATATAAAAATATATATATAAAATATATATAAA AATATATATATAAAATATATATAAAAAAATATATAAATATATATAAATAT ATATAAATATATAAAAACATATATAAATATATAAATATATATAAATATAT AAATATATATATGAATATATAAATATATATAAATATATATAAATATATAT ATAAATATATAAATATATATAAATATATATATAAATATATAAATATATAT ATAAATATATATAAATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
EVC2_chr4_5557439_5713559	5706453	C C	CATACATA others(1036): Show CATACATACATACATACATACATAGATAGATAGATAGATACATAGATACA TACATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATA GATAGATACATAGATACATAGATAGATACATAGATAGATAGATAGATAGA TAGATAGATAGATACATAGATACATAGACAGATAGATAGATACATAGATA GATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATACATAGAGATACATAGATAGATAGATAGATACATACATACA TACATAGATACATAGATAGATAGATAGATACATAGATACATACATACATA GATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATAGA TAGATACATACATACATAAATAGATAGATACATAGATAGATACATAGATA GATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGA TAGATACATAGATAGATACATAGATAGACAGATACATAGATAGATACATA GATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGA TAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATA GATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACA TAGATAACATACATAGATAGATAGATACATACATACATACATACATACAT AGATACATAGATAGATAGATACATAGATACATAGATAGATAGATAGATAC ATACATACATACATACATAGATACATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATACATACATAGATAG ATAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGAT AGATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAG ATACATAGATACATAGATAGATAGATACATAGATACATAGATAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0072 a0003c0072	a0003c0072t0001 a0003c0072t0001	a0003c0072t0001g0275 a0003c0072t0001g0275	1	292	0.0034	1043	c.228 others(1060): Show c.228+1832_228+1833insCTATCTATGTATCTATGTATCTATCTAT CTATGTATCTATGTATCTATCTATCTATGTATCTATCTATGTGTCTATCT ATCTATCTATGTATCTATCTATCTATCTATGTATCTATGTATCTATCTAT CTATGTATCTATCTATCTATCTATGTATGTATCTATGTATCTATCTATCT ATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATGTATCTAT GTATGTATGTATGTATGTATCTATCTATCTATCTATGTATCTATGTATCT ATCTATCTATGTATCTATGTATGTATGTATGTATGTATGTATCTATCTAT CTATGTATGTTATCTATGTATCTATCTATCTATGTATCTATCTATCTATC TATCTATCTATGTATCTATCTATGTATCTATCTATCTATGTATCTATCTA TCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATG TATCTATCTATCTATCTATGTATCTATCTATGTATCTGTCTATCTATGTA TCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATG TATCTATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATTTA TGTATGTATGTATCTATCTATCTATGTATGTATGTATCTATCTATGTATC TATCTATCTATCTATCTATGTATGTATGTATCTATGTATCTATCTATCTA TCTATGTATCTATGTATGTATGTATGTATCTATCTATCTATCTATGTATC TCTATGTATCTATCTATCTATCTATGTATCTATCTATCTATCTATCTATG TATCTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATGTATCTA TGTATCTATCTATCTATCTATCTATCTATCTATCTATGTATCTATCTATG TATCTATGTATCTATCTATCTATGTATGTATGTATCTATCTATGTATCTA TCTATCTATCTATGTATGTATCTATGTATCTATCTATCTATCTATGTATG TATGTATGTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5706453	C C	CATACATA others(1036): Show CATACATACATACATACATACATAGATAGATAGATAGATACATAGATACA TACATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATA GATAGATACATAGATACATAGATAGATACATAGATAGATAGATAGATAGA TAGATAGATAGATACATAGATACATAGACAGATAGATAGATACATAGATA GATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGA TAGATAGATACATAGAGATACATAGATAGATAGATAGATACATACATACA TACATAGATACATAGATAGATAGATAGATACATAGATACATACATACATA GATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATAGA TAGATACATACATACATAAATAGATAGATACATAGATAGATACATAGATA GATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGA TAGATACATAGATAGATACATAGATAGACAGATACATAGATAGATACATA GATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGA TAGATACATAGATAGATAGATAGATACATAGATAGATAGATACATAGATA GATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACA TAGATAACATACATAGATAGATAGATACATACATACATACATACATACAT AGATACATAGATAGATAGATACATAGATACATAGATAGATAGATAGATAC ATACATACATACATACATAGATACATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATACATACATAGATAG ATAGATAGATACATAGATAGATAGATACATAGATACATAGATAGATAGAT AGATACATAGATAGATAGATAGACACATAGATAGATACATAGATAGATAG ATACATAGATACATAGATAGATAGATACATAGATACATAGATAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0083 a0003c0083	a0003c0083t0002 a0003c0083t0002	a0003c0083t0002g0276 a0003c0083t0002g0276	1	292	0.0034	1043	c.228 others(1060): Show c.228+1832_228+1833insCTATCTATGTATCTATGTATCTATCTAT CTATGTATCTATGTATCTATCTATCTATGTATCTATCTATGTGTCTATCT ATCTATCTATGTATCTATCTATCTATCTATGTATCTATGTATCTATCTAT CTATGTATCTATCTATCTATCTATGTATGTATCTATGTATCTATCTATCT ATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATGTATCTAT GTATGTATGTATGTATGTATCTATCTATCTATCTATGTATCTATGTATCT ATCTATCTATGTATCTATGTATGTATGTATGTATGTATGTATCTATCTAT CTATGTATGTTATCTATGTATCTATCTATCTATGTATCTATCTATCTATC TATCTATCTATGTATCTATCTATGTATCTATCTATCTATGTATCTATCTA TCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATG TATCTATCTATCTATCTATGTATCTATCTATGTATCTGTCTATCTATGTA TCTATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATG TATCTATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATTTA TGTATGTATGTATCTATCTATCTATGTATGTATGTATCTATCTATGTATC TATCTATCTATCTATCTATGTATGTATGTATCTATGTATCTATCTATCTA TCTATGTATCTATGTATGTATGTATGTATCTATCTATCTATCTATGTATC TCTATGTATCTATCTATCTATGTATCTATCTATCTATCTATCTATGTATC TATCTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATGTATCTA TGTATCTATCTATCTATCTATCTATCTATCTATCTATGTATCTATCTATG TATCTATGTATCTATCTATCTATGTATGTATGTATCTATCTATGTATCTA TCTATCTATCTATGTATGTATCTATGTATCTATCTATCTATCTATGTATG TATGTATGTATGTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
IFNAR1_chr21_33319970_33364864	33322916	T T	TATGGAAT others(1036): Show TATGGAATATATATATAATATATATGGAATATATATATAATATATATATG GAATATATATATACGGAATATATATATAATATATATATGGAATATATATA TACGGAATATATATATAATATATATATGGAATATATATATAATATATATA TGGAATATATATACGGAATATATATATAATATATATATGGAATATATATA TAATATATATATGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATAATATATATACGGAATATATATATAATATATATACG GAATATATATATAATATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATATACGGAATATATATATAATATATATA TGGAATATATATATATGGAATGTATACATATGGAATATATATACGGAATG TATATATAATATATATATGGAATATATATATACGGAATATATATATAATA TATATATGGAATATATATATACGGAATGTATATATATGGAATATATATAC GGAATGTATATATATGGAATACATACGGAATGTATATATATGGAATACAT ATATACGGAATGTATATATATGGAATACATATATACGGAATGTATATATG GAATACATATATGGAATACGTATATAAGGAATACATATATATGGAATACG TATATAAGGAATACATATATATGGAATACGTATATAAGGAATACATATAT ATGGAATACGTATATAAGGAATACATATATATGGAATACGTATATAAGGA ATACATATATATGGAATACGTATATAAGGAATACATATATATGGAATACG TATATAAGGAATACATATATATGGAATACGTATATAAGGAATACATATAT ATGGAATACGTATATAAGGAATACATATATATGGAATACGTATATAAGGA ATACATATATATGGAATACGTATATAAGGAATACATATATATGGAATACG TATATATGGAATACATATATATGGAATACGTATATATGGAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0241 a0001c0001t0027g0241	1	323	0.0031	1043	c.-21 others(1054): Show c.-2140_-2139insATGGAATATATATATAATATATATGGAATATATA TATAATATATATATGGAATATATATATACGGAATATATATATAATATATA TATGGAATATATATATACGGAATATATATATAATATATATATGGAATATA TATATAATATATATATGGAATATATATACGGAATATATATATAATATATA TATGGAATATATATATAATATATATATGGAATATATATATAATATATATA TGGAATATATATATACGGAATATATATATAATATATATACGGAATATATA TATAATATATATACGGAATATATATATAATATATATATGGAATATATATA TACGGAATATATATATAATATATATATGGAATATATATATACGGAATATA TATATAATATATATATGGAATATATATATATGGAATGTATACATATGGAA TATATATACGGAATGTATATATAATATATATATGGAATATATATATACGG AATATATATATAATATATATATGGAATATATATATACGGAATGTATATAT ATGGAATATATATACGGAATGTATATATATGGAATACATACGGAATGTAT ATATATGGAATACATATATACGGAATGTATATATATGGAATACATATATA CGGAATGTATATATGGAATACATATATGGAATACGTATATAAGGAATACA TATATATGGAATACGTATATAAGGAATACATATATATGGAATACGTATAT AAGGAATACATATATATGGAATACGTATATAAGGAATACATATATATGGA ATACGTATATAAGGAATACATATATATGGAATACGTATATAAGGAATACA TATATATGGAATACGTATATAAGGAATACATATATATGGAATACGTATAT AAGGAATACATATATATGGAATACGTATATAAGGAATACATATATATGGA ATACGTATATAAGGAATACATATATATGGAATACGTATATAAGGAATACA TATATATGGAATACGTATATATGGAATACATATATATGGAATACGTATAT ATGGAATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2053		chr21	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1036): Show TAATATAATATGTATTTTATATATTGTATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATATATAA TATAATATATAATAAATAATATAATATATAATATATAATATAATATATAA TATAATATATAATATATAATATATAATATATAATATAATATATAATGTAA TATATAATATATAATATAATATATAATATATAATATATAATATAATATAT AATATATAATATGTAATATAATATATAATATATAATATATAATATAATAT ATAATATACAATACATAATATATAATGTATAATATAATATATAATATAAT ATAAAATATATAATATATAATATATAATATTATATATTTTATATATGCAT TTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCAT GCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAA ATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATG TGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCAC CTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCT CACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGA ATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAA CCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAA AGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTG CATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCC TGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAG GCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTT ATATATTATTTTATATGTGATATATATTTTATATATCTATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0203 a0001c0001t0013g0203	1	366	0.0027	1043	c.-36 others(1054): Show c.-3629_-3628insAATATAATATGTATTTTATATATTGTATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATATATAATATAATATATAATAAATAATATAATATATAATATA TAATATAATATATAATATAATATATAATATATAATATATAATATATAATA TAATATATAATGTAATATATAATATATAATATAATATATAATATATAATA TATAATATAATATATAATATATAATATGTAATATAATATATAATATATAA TATATAATATAATATATAATATACAATACATAATATATAATGTATAATAT AATATATAATATAATATAAAATATATAATATATAATATATAATATTATAT ATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTC CCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACT CTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTT GTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTT TCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCC AGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACA ACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCT CTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCA CTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTC ATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCAC TCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCT TGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATA TATGATATATATTTTATATATTATTTTATATGTGATATATATTTTATATA TCTATACAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1036): Show TAATATAATATGTATTTTATATATTGTATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATATATAA TATAATATATAATAAATAATATAATATATAATATATAATATAATATATAA TATAATATATAATATATAATATATAATATATAATATAATATATAATGTAA TATATAATATATAATATAATATATAATATATAATATATAATATAATATAT AATATATAATATGTAATATAATATATAATATATAATATATAATATAATAT ATAATATACAATACATAATATATAATGTATAATATAATATATAATATAAT ATAAAATATATAATATATAATATATAATATTATATATTTTATATATGCAT TTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCAT GCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAA ATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATG TGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCAC CTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCT CACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGA ATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAA CCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAA AGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTG CATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCC TGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAG GCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTT ATATATTATTTTATATGTGATATATATTTTATATATCTATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0061 a0003c0007t0001g0061	1	348	0.0029	1043	c.87 others(1052): Show c.879_*880insAATATAATATGTATTTTATATATTGTATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATATATAATATAATATATAATAAATAATATAATATATAATATATA ATATAATATATAATATAATATATAATATATAATATATAATATATAATATA ATATATAATGTAATATATAATATATAATATAATATATAATATATAATATA TAATATAATATATAATATATAATATGTAATATAATATATAATATATAATA TATAATATAATATATAATATACAATACATAATATATAATGTATAATATAA TATATAATATAATATAAAATATATAATATATAATATATAATATTATATAT TTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCC ACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCT TTTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGT GAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTC TCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAG ATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAAC ATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCT GACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACT CTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCAT GCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTC CATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTG TCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATA TGATATATATTTTATATATTATTTTATATGTGATATATATTTTATATATC TATACAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		764		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173086	T T	TCCCTCTC others(1036): Show TCCCTCTCTTACCCTTCCTTCCCTCTCCTTCCCTCTCCATCCCTCTCCCT CTCCTTCCCTCTCCTTCCCTCTCCCTCTCTCCCCCTCCTTCCCTCGCCCT CTCTCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCTCTCCCT CTCTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCT CACTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCT CACTCCCCCCCTCCTTCCCTCTCCCTCACTCCCACCCTCCTTCCCTCTCC CTCACTCCCCCCTCCTTCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCC TCACTCCCCCCTCCTTCCCTCTCTCCCCCTCTCCCCCTCTCCCCCCCTCC CCCCCTCCCCCCTCTCCCCCTCTCTCCCCCCCCTCCCCCCTCTCCCCCTC TCTCCCCCCCTCCCCCCTCCCCCCTCTCTCCCCCTCTCTCCCCCCCTCCC CCCTCCCCCCTCTCTCCCCCTCTCCCCCCCTCCCCCCTCCCCCCTCCCCC CCCGTCCCCCCTCCCCCTCCCCCCCTCCTTCCCTCTCTCTCCCTCTCCCC CTCCTACCCTCTCTCTCCCTCTCCCCCTCCTTCCGCTCTCTCACCCCCGT CCCCCTCCTTCCCTCTCTCTCTCCCTCCCCCTCCTTCCCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCTTCCTCTCTCTCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCTTCCCTCTCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCC TCCTTCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCTCCTTTCCTC TCTCTCTCCCCCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCTCCC CCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCCTCCCCCCTCCTTCCCTCT CTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTT CCCTCTCTCTCCCCCTCCCCTCCTTCCCTCTCTCTCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0153 a0001c0006t0025g0153	1	158	0.0063	1043	c.11 others(1064): Show c.1103+4056_*1103+4057insTCTCTTACCCTTCCTTCCCTCTCC TTCCCTCTCCATCCCTCTCCCTCTCCTTCCCTCTCCTTCCCTCTCCCTCT CTCCCCCTCCTTCCCTCGCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCTC TCCCCCCTCCTTCCCTCTCCCTCTCTCCCCCCTCCTTCCCTCTCCCTCAC TCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCCCTCAC TCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCCTCCTTCCCTCTCCCTCA CTCCCACCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCTCTCCCTCA CTCCCCCCTCCTTCCCTCTCCCTCACTCCCCCCTCCTTCCCTCTCTCCCC CTCTCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCTCTCCCCCTCTCTCCC CCCCCTCCCCCCTCTCCCCCTCTCTCCCCCCCTCCCCCCTCCCCCCTCTC TCCCCCTCTCTCCCCCCCTCCCCCCTCCCCCCTCTCTCCCCCTCTCCCCC CCTCCCCCCTCCCCCCTCCCCCCCCGTCCCCCCTCCCCCTCCCCCCCTCC TTCCCTCTCTCTCCCTCTCCCCCTCCTACCCTCTCTCTCCCTCTCCCCCT CCTTCCGCTCTCTCACCCCCGTCCCCCTCCTTCCCTCTCTCTCTCCCTCC CCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCCCCTCCTTCCTCTCTC TCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCTCCT TCCCTCTCTCTCCCCCTCCCCCTCCTTCTCCTTCCCTCTCTCTCTCCCCC TCCCCCTCCTTCTCCTTTCCTCTCTCTCTCCCCCTCCCCCTCCCCCTCCT TCTCCTTCCCTCTCTCTCTCCCCCCTCCCCCTCCTTCCCTCTCTCTCTCC CCCCTCCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCT CTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCTCCTTCCC TCTCTCTCTCCCCCTCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
LDLRAD3_chr11_35939062_36237136	36055116	A A	AGTTGGAT others(1036): Show AGTTGGATGAATGGATGGATGGATAGATGGATGGATGGATGGGTGGATGA ATGGATGGATGGATGCATGGATGGATGGATGGTTGGATGAATGGATGGAT GGGTGCATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGC ATGGATGGATGGACGATGGATACATGGATGCATGGATGGATGGATGCATG GATGGATGGATGATGGATACATGGATGTATGGATGGATGGTTGGATGGAT GGATGCATGGATGCATGGATGGATGGATGCATGGGTGGATGGATGCATGG ATGGGTGCATGGATGGATGGATGGATGGATGGATAAATGGATGCATGGAT GCATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGCATGGATGGATGGATGAATGGATGGATGGATGGATGGAT GGGTGGATAGATGGATGAATGGATGAATGGATGGATGAGTAGGTGGAAGG GTAGATAGATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTGGTT GAGTAGGTGGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAAGAC AGAGGTCTCTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCTCCC TTCCTATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCATTG CCTCTCTCTACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTTATA GTTTTCATTTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAGGTC TGATACACCTTGTTCACTGTTATCCCCACACCAAACAACATTAGCTCCTG CTACATGGGAGATGCTTAGTACACTTTTGTTGAATGAATCAATGAAAGAA CAGTGAGTATTTACTAGTACTTGTGGGGGCAAATCATTGCTTGCATTCTT ACATCTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTCTCTTACCAGGAG GCCAGATGGGATTGCTGAGCAAGAATAAGATTGCTTCCATCTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18943.hp2 NA19012.hp2 others(1): Show HG00609.hp1 NA18943.hp2 NA19012.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 a0001c0002t0001 a0001c0002t0002 a0002c0004t0001	a0001c0002t0001g0068 a0001c0002t0001g0158 a0001c0002t0002g0026 others(1): Show a0001c0002t0001g0068 a0001c0002t0001g0158 a0001c0002t0002g0026 a0002c0004t0001g0226	4	236	0.0170	1043	c.193 others(1062): Show c.193+18867_193+18868insGTTGGATGAATGGATGGATGGATAGA TGGATGGATGGATGGGTGGATGAATGGATGGATGGATGCATGGATGGATG GATGGTTGGATGAATGGATGGATGGGTGCATGGATGGATAGATGGATGGA TGGATGGATGGATGGATGGATGCATGGATGGATGGACGATGGATACATGG ATGCATGGATGGATGGATGCATGGATGGATGGATGATGGATACATGGATG TATGGATGGATGGTTGGATGGATGGATGCATGGATGCATGGATGGATGGA TGCATGGGTGGATGGATGCATGGATGGGTGCATGGATGGATGGATGGATG GATGGATAAATGGATGCATGGATGCATGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATAGATGCATGGATGGATGGATG AATGGATGGATGGATGGATGGATGGGTGGATAGATGGATGAATGGATGAA TGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCAGTG GATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGTAGA TTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACCACATG TCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGCCCC TTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGTAAACA AGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGATGC TTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTATCCCC ACACCAAACAACATTAGCTCCTGCTACATGGGAGATGCTTAGTACACTTT TGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACTAGTACTTGTGGG GGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTACTGCTGTCTCAG AGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGCTGAGCAAGAATA AGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LMF1_chr16_848634_975984	858178	A A	ACGGGATG others(1036): Show ACGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCGTGGTGTCACGG GATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATG GGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTG TGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGG TGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACG GGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTG TGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCA GTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGG TGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTC TCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGC GTGGTGTCACGGGATGGGTGTGCGTGGTGTCACGGGATGGGTGTGCGTGG TGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGAGTGGTGTC TCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	294	0.0034	1043	c.153 others(1062): Show c.1530-3473_1530-3472insAGACACCACTCACACCCATCCCGAGA CACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACG CACACCCATCCCGAGACACCACGCACACCCATCCCGTGACACCACGCACA CCCATCCCGTGACACCACGCACACCCATCCCGTGACACCACGCACACCCA TCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCC GAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGA CACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACAC CACTCACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACG CACACCCATCCCGAGACACCACGCACACCCATCCCGAGACACCACGCACA CCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACGCACACCC ATCCCGAGACACCACGCACACCCATCCCGAGACACCACTCACACCCGTCC CGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCCCGAGACA CCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCA CTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACG CACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCC ATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCC CGAGACACCACTCACACCCATCCCGAGACACCACGCACACCCATCCCGAG ACACCACGCACACCCATCCCGTGACACCACGCACACCCATCCCGTGACAC CACGCACACCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(1036): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGT CCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCC TCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCT CTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCT TCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCT CCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTC TCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTC TCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTT CCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCTTCCCCTCCCCC ACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCTC CTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCC CTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCCTCCC CCCTCCCCCTCTCCCCCTCCCCCTCTCTCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCGCCTCTCCCCCTCTCCCCCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0027 a0002c0003t0007g0027	1	276	0.0036	1043	c.100 others(1062): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTT CCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCT CTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCC ATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCC CATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCC TCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCC CCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTC CCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCT CCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTCCCCCCTCCCCCTCTC CCCCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCCTCTCTCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCGCCTCTCCCCCTCTCCCCCTCCCC CTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(1036): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTC CCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCC TCCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCC TCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCC CCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCC TCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCT CCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCC TCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCT CCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCC CCTCCCCTCTCCTCCGCTCCCCCTCCCCTCTCCTCCACTCCTCTCCCCTC CCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCCTCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCC TCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0110 a0001c0003t0002g0110	1	318	0.0031	1043	c.-49 others(1054): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGG AGGAGAGGGGAGGGGAGGAGAGAGGGAGAGGAGGGGAGAGGAGTGGAGGA GAGAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGGAGCGGAGG AGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGA GGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAG GGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGA GGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGG GGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGG AGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGA GGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGAG GAGGGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAG GAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGACAGAGGAGG AGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(1036): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG GGGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGG GGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGGGAGAGAGAGGGAAAGAGAA AGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGG GAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATGG AGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0015 a0001c0005t0004g0015	1	250	0.0040	1043	c.225 others(1060): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAAAGGGAGGGGAGAGAGAGGGAAAGAGAAAGGGAGGA GAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGG AGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GGGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGG GGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGATGGAGGAGAGAGAGATAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA GAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
NFATC1_chr18_79390930_79534323	79532251	C C	CTGCAGCC others(1036): Show CTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCC CCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCC GGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCT CCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCT CTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCC CCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCC GGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCCGCCCCCCGGCAGACCC TCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCC GCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCC CCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC CGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCC TCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCC TCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	322	0.0031	1043	c.46 others(1054): Show c.4674_*4675insTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGT CTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGC AGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGC CCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAG ACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGT CTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGC AGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCCG CCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCA GACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTG TCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTG CAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCG CCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCA GACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTG TCTCCGCCTGCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2929		chr18	TogoVar
PCBP3_chr21_45638725_45947450	45910132	C C	CCACACAC others(1036): Show CCACACACACTTCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATAC GGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACACACTTC CCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACC CACTGCCCAGATACGGACCCCCCCCACCACTGCCCAGATACGGACCCCCC CCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGG ACCCCCCGCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCA GATACGGACCCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACC CACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGC CACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATACAGAC CCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGAT ACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACACACT TCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCA CCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCC CCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACG GACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAG ATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTG CCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACA CACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACC CCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATA TGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCACCCACTTCC CAGATATGGACCTGGCCACCCACTGCCCAGATACGGACCCCCCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	292	0.0034	1043	c.471 others(1058): Show c.471+647_471+648insACACACACTTCCCAGATACGGACCCCCCCC CACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGA CCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAA ATATGGACCTGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCACTG CCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCG CCCACTGCCCAGATACGGACCCCCCGCCACCCACTGCCCAGATACGGACC CGGCCCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCACTGCCCAG ATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTG CCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACC CACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCC CCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACG GACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCC AAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCAC TGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCC GCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACC TGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACA GACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCA GATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACAC ACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGC CCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGAC CCCCCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAGAT ACGGACCCCCCGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar

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