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
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(1206): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCCC ACTCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0204 a0003c0004t0003g0204	1	418	0.0024	1213	c.737 others(1228): Show c.737+179_737+180insCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGG GCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCTCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCT TACCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCAG GCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(1206): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCCC ACTCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02970.hp2 others(9): Show HG02723.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp2 NA18941.hp1 NA18971.hp1 NA19088.hp2 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0019 a0003c0040 a0003c0004 a0003c0019 a0003c0040	a0003c0004t0002 a0003c0004t0003 a0003c0019t0003 others(1): Show a0003c0004t0002 a0003c0004t0003 a0003c0019t0003 a0003c0040t0003	a0003c0004t0002g0133 a0003c0004t0003g0021 a0003c0004t0003g0040 others(6): Show a0003c0004t0002g0133 a0003c0004t0003g0021 a0003c0004t0003g0040 a0003c0004t0003g0041 a0003c0004t0003g0049 a0003c0004t0003g0193 a0003c0004t0003g0208 a0003c0019t0003g0048 a0003c0040t0003g0190	12	418	0.0287	1213	c.737 others(1228): Show c.737+179_737+180insCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGG GTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCTCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCT TACCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCAG GCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(1206): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTTCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCCC ACTCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0191 a0003c0004t0003g0191	1	418	0.0024	1213	c.737 others(1228): Show c.737+179_737+180insCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGG GTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCTCC TTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCTGAGAGCCCCCCTTTCCCGGGCCCTGACCCCCACTCA TACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCT TACCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCAG GCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGAC CCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CTTCCCCGGGCCCTGACCCCCACTCATACCCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CYLC1_chrX_83856146_83891698	83878202	A A	AATATATA others(1206): Show AATATATATAAATATATATAAAAATATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATAATATATATATAAAAATATATATTA TATATATTATATATATAAATATATATATAAAAATATATATTATATATATT ATATATATAAATATATATATAAAAATATATATTATATATATTATATATAT AAATATATATATAAAAATATATATTATATATATTATATATATAAATATAT ATATAAAAATATATATTATATATATTATATATATAAATATATATATAAAA ATATATATTATATATATTATATATATAAATATATATATATAATATATATT ATATATATTATATATATAAATATATATATAAATATATATTATATATATTA TATATAATATATATATAAAATATATATAAATATATATAAATATATATAAA ATATATAAATATATATAAAAATATATATAAAATATATAAATATATATAAA AATATATATATAAATATATATATAAAAATATATATAAAAATATGTATATA ATATATATATGAAAATATATATAAAAATATATATATAAATATATATCAAT ATATATATAAAATATATATAAATATATATATAAAATATATATATAAAATA TATATAAATACATATATAAATATATATATAAATATATATAAATATATATA TATAAAATATATATAAAATATATATATAAAATATATATAAAAATATATAT ATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATACAT ATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATATAT ATAAAATATATATAAAAATATATATATAAAATATATATAAAAAAATATAT AAATATATATAAATATATAAAAACATATATAAATATATAAATATATATAA ATATATAAATATATATATAAATATATAAATATATATAAATATATATAAAT ATATATATAAATATATAAATATATATAAATATATATAAATATATATATAA ATATATAAATATATATATAAATATATATAAATATATATAAATATATAAAT ATATATATAAATATATATAAATATATATAAATATATAAATATATATATAA ATATATATAAATATATATAAATATATATAAATATATATAAATATATATAA ATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	208	0.0048	1213	c.192 others(1232): Show c.1923+3590_1923+3591insAAAATATATATATAAATATATATAAA TATATATAAAAATATATATAAATATATATAATATATATATAAAAATATAT ATTATATATATTATATATATAAATATATATATAAAAATATATATTATATA TATTATATATATAAATATATATATAAAAATATATATTATATATATTATAT ATATAAATATATATATAAAAATATATATTATATATATTATATATATAAAT ATATATATAAAAATATATATTATATATATTATATATATAAATATATATAT AAAAATATATATTATATATATTATATATATAAATATATATATATAATATA TATTATATATATTATATATATAAATATATATATAAATATATATTATATAT ATTATATATAATATATATATAAAATATATATAAATATATATAAATATATA TAAAATATATAAATATATATAAAAATATATATAAAATATATAAATATATA TAAAAATATATATATAAATATATATATAAAAATATATATAAAAATATGTA TATAATATATATATGAAAATATATATAAAAATATATATATAAATATATAT CAATATATATATAAAATATATATAAATATATATATAAAATATATATATAA AATATATATAAATACATATATAAATATATATATAAATATATATAAATATA TATATATAAAATATATATAAAATATATATATAAAATATATATAAAAATAT ATATATAAAATATATATAAAAATATATATATAAAATATATATAAAAATAT ACATATAAAATATATATAAAAATATATATATAAAATATATATAAAAATAT ATATATAAAATATATATAAAAATATATATATAAAATATATATAAAAAAAT ATATAAATATATATAAATATATAAAAACATATATAAATATATAAATATAT ATAAATATATAAATATATATATAAATATATAAATATATATAAATATATAT AAATATATATATAAATATATAAATATATATAAATATATATAAATATATAT ATAAATATATAAATATATATATAAATATATATAAATATATATAAATATAT AAATATATATATAAATATATATAAATATATATAAATATATAAATATATAT ATAAATATATATAAATATATATAAATATATATAAATATATATAAATATAT ATAAATATATATATAAATATATATATAAATATATATA	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
DCLK2_chr4_150073445_150262438	150251268	C C	CCACACCC others(1206): Show CCACACCCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCC ACACATCCCCCACACCCCCACACATCCCCCACACCCCCCACATCCCCCAC ACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCACACAT CCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCC CACACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCC ACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCACAC ATCCCCCACACCCCCCACATCCCCCACACCCCCACACATCCCCCACACCC CCACACATCCCCCACACCCCCACACATCCCCCACACCCCCCACATCCCCC ACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCCACA CATCCCCCACACCCCCACACATCCCCCACACCCCCCACATCCCCCACACC CCCCACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCC CACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCACA CATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACAC CCCCCACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCC CCACACCCCCACACATCCCCCACACCCCCCACATCCCCCACACCCCCACA CATCCCCCACACCCCCACACATCCCCCACACCCCCCACACATCCCCCACA CCCCCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCC CCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCAC ACATCCCCCACACCCCCACACATCCCCCACACCCCCCACACATCCCCCAC ACCCCCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCC CCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCA CACATCCCCCACACCCCCACATCCCCCACACCCCCCACACATCCCCCACA CCCCCCAAATCCCCCACACCCCCCACACATCCCCCACACCCCCCAAATCC CCCACACCCCCCACATCCCCCATACCCCTCACATCCCCCACATCCCCCAC ACCACACATTCCCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0051 a0002c0002t0004g0051	1	116	0.0086	1213	c.207 others(1232): Show c.2073+1598_2073+1599insATCCCCCACACCCCCACACATCCCCC ACACCCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCCAC ATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACC CCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCC CCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCAC ACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACA CCCCCACACATCCCCCACACCCCCCACATCCCCCACACCCCCACACATCC CCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCC ACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACA CCCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCCACATC CCCCACACCCCCCACATCCCCCACACCCCCACACATCCCCCACACCCCCA CACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCAC ACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCACACAT CCCCCACACCCCCCACATCCCCCACACCCCCACACATCCCCCACACCCCC ACACATCCCCCACACCCCCACACATCCCCCACACCCCCCACATCCCCCAC ACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCCACACA TCCCCCACACCCCCACACATCCCCCACACCCCCCACATCCCCCACACCCC CCACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCA CACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCCACAC ATCCCCCACACCCCCACACATCCCCCACACCCCCCACATCCCCCACACCC CCCACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCC ACACCCCCACACATCCCCCACACCCCCACATCCCCCACACCCCCCACACA TCCCCCACACCCCCCAAATCCCCCACACCCCCCACACATCCCCCACACCC CCCAAATCCCCCACACCCCCCACATCCCCCATACCCCTCACATCCCCCAC ATCCCCCACACCACACATTCCCTCACACCCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DGKB_chr7_14140049_14907751	14471354	G G	GTATATAT others(1206): Show GTATATATGTGTATACATACATATATGTATGTATATATACATATATGTGT GTATATATGTGTATACATACATATATGTATGTATATATACATATATGTGT GTATATATGTGTATACATACATATATGTGTGTATATATGTGTATACATAC ATATATGTGTGTATATATGTGTATATATGTGTATACACACATATGTGTGT ATATATGTGTATACACACATATGTGTGTATATATGTGTATACACACATAT GTGTGTATATATGTGTATACACACATATGTGTGTATATATGTGTATACAC ACATATGTGTGTATATGTGTGTGTATATATGTGTATACACACATATGCGT GTGTATATATGTGTATACACACATATGCGTGTGTATATATGTGTATACAC ACATATGCGTGTGTATATATGTGTATACACACATATGCGTGTGTATATAT GTGTATACACACATATGCGTGTGTGTATATGTGTGTATACACACATATGC GTGTGTGTATATGTGTGTATACACACATATGCGTGTGTGTATATGTGTGT ATACACACATATGCGTGTGTGTATATGTGTGTATACACACATATGCGTGT GTGTATATGTGTGTATACACACATATGCGTGTGTGTATATGTGTGTATAC ACACATATGCGTGTGTATATGTGTGTATACACATATATGCGTGTGTGTAT GTGTGTGTATACACATATATATGCGTGTGTATATGTGTGTATATACATAT GCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATAT ACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGT GTATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTAT ATGTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATATGCGT GTGTATATGTGTGTATATACATATGTGTGTATATATGTGTGTATATACAT ATATATGAGTGTATATATGTGTATATATACATATATATGCGTGTATATAT ACGTATATATGCATGTATATATGTGTATACATACATATATGCATGTATAT ATGTGTATACATACATATATGCATGTATATATGTGTATTCATACATATAT GCATGTATATATGTGTATTCATACATATATGCATGTATATATGTGTATTC ATACATATATGCAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	148	0.0068	1213	c.183 others(1232): Show c.1835+6806_1835+6807insATGCATATATGTATGAATACACATAT ATACATGCATATATGTATGAATACACATATATACATGCATATATGTATGA ATACACATATATACATGCATATATGTATGTATACACATATATACATGCAT ATATGTATGTATACACATATATACATGCATATATACGTATATATACACGC ATATATATGTATATATACACATATATACACTCATATATATGTATATACAC ACATATATACACACATATGTATATACACACATATACACACGCATATGTAT ATACACACATATACACACGCATATGTATATACACACATATACACACGCAT ATGTATATACACACATATACACACGCATATGTATATACACACATATACAC ACGCATATGTATATACACACATATACACACGCATATGTATATACACACAT ATACACACGCATATGTATATACACACATATACACACGCATATGTATATAC ACACATATACACACGCATATATATGTGTATACACACACATACACACACGC ATATATGTGTATACACACATATACACACGCATATGTGTGTATACACACAT ATACACACACGCATATGTGTGTATACACACATATACACACACGCATATGT GTGTATACACACATATACACACACGCATATGTGTGTATACACACATATAC ACACACGCATATGTGTGTATACACACATATACACACACGCATATGTGTGT ATACACACATATACACACACGCATATGTGTGTATACACATATATACACAC GCATATGTGTGTATACACATATATACACACGCATATGTGTGTATACACAT ATATACACACGCATATGTGTGTATACACATATATACACACGCATATGTGT GTATACACATATATACACACACATATACACACATATGTGTGTATACACAT ATATACACACATATGTGTGTATACACATATATACACACATATGTGTGTAT ACACATATATACACACATATGTGTGTATACACATATATACACACATATGT GTGTATACACATATATACACATATATACACACATATATGTATGTATACAC ATATATACACACATATATGTATGTATACACATATATACACACATATATGT ATATATACATACATATATGTATGTATACACATATATACACACATATATGT ATATATACATACATATATGTATGTATACACATATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DIP2C_chr10_269201_694668	478081	G G	GGGGAGGG others(1206): Show GGGGAGGGGAAAAGAAGAGAGGGGAAGGGAGGGGAAGAGAGGGGAAGGGA GGGGAGGGGAGGGGAAAAGAAGAGAGGGGAAGGGAGGGGAGGGGAGGGGA AAAGAAGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGGGAAAAGAAGAGG GGAAGGGAGAGGAGGGGAGGGGAAAAGAAGAGGGGAAGGGAGAGGAGGGG AGGGGAAAAGAAGAGAGGAAGGGAGGGGAGGGGAGGGGAGGAGAGAAGAA GGGAGGGGAAGGGAGAGGGAAGAGAGAAGAAGGGAGAGAGAAGAAGGGAG GGGAAGGGAGAGGGAAGGGAGAGGGAAGAGAGAAGAAGGGAGAGAGAAGA AGGGAGGGGAAGGGAGAGGGAAGAGAGAAGAAGGGAGGGAAAGGGAGGGG AAGGAAGGGGAAGGGAGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGAG AGAAGAAGGGAGGGGAAGGAAGGGGAAGGGAGGGGAAGGGAGGGGAGGAG AGGAGGAGGGAGGGGAGGAGAGGAGGAGGGAGGGGAGGAGAGGAGGAGGG AGGGGAGGAGAGGAGGAGGGAGGGGAGGAGGAGGGAGGGGAGGAGGGAGG GGAGGAGGGAGGGGGGGAGGAGGGAGGGGAGGAGGGAGGGGAGGAGGAGG GAGGGGAGGAGGAGGGAGGGGAGGAGGAGGGAGGGGAGGAGGAGGGAGGG GAGGAGGAGGGGAGGAGGAGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGA AGAGGGGAGGAGAGGGGAGAAGAGGGGAGGAGAGGGGAGAAGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGA AGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGG GGAGGGGAGAAGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGA AGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGAAGAGGGGAGG GGAGAAAAGGGGAGGGGAGGGGAGAAGAGGGGAGAAGAGGGGAGGGGAGG GGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAAG GGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGAGAGGGGAGA AGAAGGGAGGAGAGGGGAGAAGAAGGGAGGAGAGGGGAGAAGAAGGGAGG AGAGGGGAGAAGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	88	0.0114	1213	c.158 others(1230): Show c.158-5533_158-5532insTTCTTCTCCCCTCTCCTCCCTTCTTCTC CCCTCTCCTCCCTTCTTCTCCCCTCTCCTCCCTTCTTCTCCCCTCTCCTC CCTTCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTC TTCTCCCCTCTTCTCCCCTCCCCTCCCCTTTTCTCCCCTCCCCTCTTCTC CCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTC CCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTC CCCTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTC CCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTTCTC CCCTCTCCTCCCCTCTTCTCCCCTCTCCTCCCCTCTTCTCCCCTCCCCTC CCCTCTTCTCCCCTCCCTCCTCCTCCCCTCCTCCTCCCCTCCCTCCTCCT CCCCTCCCTCCTCCTCCCCTCCCTCCTCCTCCCCTCCCTCCTCCTCCCCT CCCTCCTCCCCTCCCTCCTCCCCCCCTCCCTCCTCCCCTCCCTCCTCCCC TCCCTCCTCCTCCCCTCCCTCCTCCTCTCCTCCCCTCCCTCCTCCTCTCC TCCCCTCCCTCCTCCTCTCCTCCCCTCCCTCCTCCTCTCCTCCCCTCCCT TCCCCTCCCTTCCCCTTCCTTCCCCTCCCTTCTTCTCTCCTCCCTTCCCT TCTCCTCCCTTCCCCTCTCCTCCCTTCCCCTTCCTTCCCCTCCCTTTCCC TCCCTTCTTCTCTCTTCCCTCTCCCTTCCCCTCCCTTCTTCTCTCTCCCT TCTTCTCTCTTCCCTCTCCCTTCCCTCTCCCTTCCCCTCCCTTCTTCTCT CTCCCTTCTTCTCTCTTCCCTCTCCCTTCCCCTCCCTTCTTCTCTCCTCC CCTCCCCTCCCCTCCCTTCCTCTCTTCTTTTCCCCTCCCCTCCTCTCCCT TCCCCTCTTCTTTTCCCCTCCCCTCCTCTCCCTTCCCCTCTTCTTTTCCC CTCCCCTCCTCTCCCCTCCCTTCCCCTCTCTTCTTTTCCCCTCCCCTCCC CTCCCTTCCCCTCTCTTCTTTTCCCCTCCCCTCCCCTCCCTTCCCCTCTC TTCCCCTCCCTTCCCCTCTCTTCTTTTCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG00735.hp2 HG01175.hp2	a0001 a0028 a0001 a0028	a0001c0002 a0028c0034 a0001c0002 a0028c0034	a0001c0002t0002 a0028c0034t0002 a0001c0002t0002 a0028c0034t0002	a0001c0002t0002g0061 a0028c0034t0002g0015 a0001c0002t0002g0061 a0028c0034t0002g0015	2	316	0.0063	1213	c.49 others(1224): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01256.hp1 others(20): Show HG00408.hp2 HG01123.hp1 HG01256.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18951.hp2 NA18954.hp1 NA18984.hp1 NA19010.hp1 NA19057.hp1 NA20805.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0008 a0015 a0027 a0028 a0049 a0058 a0065	a0001c0001 a0001c0002 a0001c0006 others(16): Show a0001c0001 a0001c0002 a0001c0006 a0001c0018 a0001c0021 a0002c0003 a0002c0007 a0002c0014 a0002c0015 a0002c0038 a0002c0052 a0003c0004 a0008c0026 a0015c0013 a0027c0076 a0028c0034 a0049c0085 a0058c0119 a0065c0066	a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 others(19): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 a0001c0006t0001 a0001c0018t0002 a0001c0021t0001 a0002c0003t0003 a0002c0003t0005 a0002c0007t0001 a0002c0014t0001 a0002c0015t0003 a0002c0038t0001 a0002c0052t0001 a0003c0004t0001 a0003c0004t0003 a0008c0026t0003 a0015c0013t0001 a0027c0076t0001 a0028c0034t0002 a0049c0085t0004 a0058c0119t0001 a0065c0066t0001	a0001c0001t0002g0078 a0001c0002t0003g0279 a0001c0002t0004g0232 others(20): Show a0001c0001t0002g0078 a0001c0002t0003g0279 a0001c0002t0004g0232 a0001c0006t0001g0091 a0001c0018t0002g0254 a0001c0021t0001g0121 a0002c0003t0003g0314 a0002c0003t0005g0064 a0002c0007t0001g0139 a0002c0014t0001g0179 a0002c0015t0003g0298 a0002c0038t0001g0237 a0002c0052t0001g0217 a0003c0004t0001g0120 a0003c0004t0001g0209 a0003c0004t0003g0278 a0008c0026t0003g0283 a0015c0013t0001g0088 a0027c0076t0001g0090 a0028c0034t0002g0005 a0049c0085t0004g0199 a0058c0119t0001g0126 a0065c0066t0001g0162	23	316	0.0728	1213	c.49 others(1224): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0063 a0063	a0063c0067 a0063c0067	a0063c0067t0003 a0063c0067t0003	a0063c0067t0003g0272 a0063c0067t0003g0272	1	316	0.0032	1213	c.49 others(1224): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01257.hp1 HG01258.hp2 others(5): Show HG00735.hp1 HG01257.hp1 HG01258.hp2 HG01928.hp1 HG02165.hp2 HG02735.hp2 NA18977.hp2 NA19079.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0001c0005 a0001c0053 others(3): Show a0001c0001 a0001c0005 a0001c0053 a0002c0003 a0003c0004 a0013c0121	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0053t0001 a0002c0003t0011 a0003c0004t0005 a0013c0121t0001	a0001c0001t0001g0113 a0001c0001t0002g0059 a0001c0005t0001g0001 others(4): Show a0001c0001t0001g0113 a0001c0001t0002g0059 a0001c0005t0001g0001 a0001c0053t0001g0098 a0002c0003t0011g0296 a0003c0004t0005g0071 a0013c0121t0001g0087	8	316	0.0253	1213	c.49 others(1224): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCGTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0164 a0001c0009t0001g0164	1	316	0.0032	1213	c.49 others(1224): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCGTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0202 a0001c0005t0004g0202	1	316	0.0032	1213	c.49 others(1224): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCC CCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAG GTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTT CCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTT GCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATC GCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCG ACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCT GGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTG TCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGC CTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGG AGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTC GCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAG TTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTT CTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGG CCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGC CTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGG CCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCT GTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAA TGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGG GCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAA ACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAG GTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTT TTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCA GCTCCCCCTTCCCGTCCACATGCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	316	0.0032	1213	c.49 others(1224): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0001 a0002c0048t0001	a0002c0048t0001g0205 a0002c0048t0001g0205	1	316	0.0032	1213	c.49 others(1224): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTT AGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCT GGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCC CTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCT CGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCC ATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGT TGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATG AGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0020 a0020	a0020c0055 a0020c0055	a0020c0055t0002 a0020c0055t0002	a0020c0055t0002g0022 a0020c0055t0002g0022	1	316	0.0032	1213	c.49 others(1224): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGC CCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCC TCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGC CATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTG TTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAAT GAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGG CCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAA CTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGG TCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTT TGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAG CTCCCCCTTCCCGTCCACATGCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1206): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAATGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	248	0.0040	1213	c.273 others(1232): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCAATGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1206): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp2 NA18964.hp1 others(1): Show HG02735.hp2 HG04204.hp2 NA18964.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0185 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0156 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0235	4	248	0.0161	1213	c.273 others(1232): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG00735.hp1 HG01175.hp2	a0001 a0020 a0001 a0020	a0001c0004 a0020c0024 a0001c0004 a0020c0024	a0001c0004t0003 a0020c0024t0003 a0001c0004t0003 a0020c0024t0003	a0001c0004t0003g0026 a0020c0024t0003g0026 a0001c0004t0003g0026 a0020c0024t0003g0026	2	388	0.0052	1213	c.-38 others(1232): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCCAGTTCCCCGCCTCCCCAACTCTGG CCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATT TAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGT CTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCCC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0162 a0003c0007t0002g0162	1	388	0.0026	1213	c.-38 others(1232): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCCAG TTCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAG GGGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGC TCTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGG GGGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCT CACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGG GGCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAG GGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGC CGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGC TGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAA GGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTT TTCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTG AGTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGG TCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCT TCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCC CAGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01256.hp1 others(21): Show HG00408.hp2 HG01123.hp1 HG01256.hp1 HG02257.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03540.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18954.hp2 NA18984.hp1 NA19010.hp1 NA19057.hp1 NA19082.hp1 NA19088.hp1 NA20129.hp1 NA20805.hp1	a0001 a0003 a0005 others(10): Show a0001 a0003 a0005 a0008 a0009 a0012 a0020 a0024 a0027 a0041 a0045 a0053 a0054	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0001c0028 a0003c0007 a0003c0011 a0005c0014 a0008c0012 a0009c0018 a0012c0020 a0020c0024 a0024c0031 a0027c0092 a0041c0070 a0045c0053 a0053c0039 a0054c0038	a0001c0001t0002 a0001c0002t0001 a0001c0004t0003 others(15): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0003 a0001c0015t0005 a0001c0028t0001 a0003c0007t0002 a0003c0011t0003 a0005c0014t0001 a0008c0012t0001 a0009c0018t0002 a0012c0020t0003 a0020c0024t0003 a0024c0031t0005 a0027c0092t0001 a0041c0070t0003 a0045c0053t0001 a0053c0039t0005 a0054c0038t0005	a0001c0001t0002g0012 a0001c0001t0002g0036 a0001c0001t0002g0224 others(19): Show a0001c0001t0002g0012 a0001c0001t0002g0036 a0001c0001t0002g0224 a0001c0002t0001g0041 a0001c0002t0001g0107 a0001c0004t0003g0201 a0001c0004t0003g0207 a0001c0015t0005g0314 a0001c0028t0001g0293 a0003c0007t0002g0012 a0003c0011t0003g0208 a0005c0014t0001g0304 a0008c0012t0001g0085 a0009c0018t0002g0036 a0012c0020t0003g0029 a0020c0024t0003g0029 a0024c0031t0005g0046 a0027c0092t0001g0086 a0041c0070t0003g0206 a0045c0053t0001g0292 a0053c0039t0005g0046 a0054c0038t0005g0315	24	388	0.0619	1213	c.-38 others(1232): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0044 a0044	a0044c0068 a0044c0068	a0044c0068t0002 a0044c0068t0002	a0044c0068t0002g0273 a0044c0068t0002g0273	1	388	0.0026	1213	c.-38 others(1232): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCTC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01257.hp1 others(6): Show HG00099.hp2 HG00735.hp2 HG01257.hp1 HG01258.hp1 HG01928.hp1 HG02165.hp2 HG02735.hp1 NA18977.hp2 NA19079.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0029 a0005c0019 a0001c0001 a0001c0029 a0005c0019	a0001c0001t0004 a0001c0029t0004 a0005c0019t0026 a0001c0001t0004 a0001c0029t0004 a0005c0019t0026	a0001c0001t0004g0011 a0001c0001t0004g0032 a0001c0001t0004g0033 others(3): Show a0001c0001t0004g0011 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0230 a0001c0029t0004g0235 a0005c0019t0026g0011	9	388	0.0232	1213	c.-38 others(1232): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCGTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	388	0.0026	1213	c.-38 others(1232): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCGTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0248 a0003c0007t0004g0248	1	388	0.0026	1213	c.-38 others(1232): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGC TTCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACAC CCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCC ACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCT CACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGG GGCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAG GGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGC CGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGC TGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAA GGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTT TTCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTG AGTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGG TCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCT TCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCC CAGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0009 a0009	a0009c0046 a0009c0046	a0009c0046t0002 a0009c0046t0002	a0009c0046t0002g0276 a0009c0046t0002g0276	1	388	0.0026	1213	c.-38 others(1232): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	388	0.0026	1213	c.-38 others(1232): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1206): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0112 a0004c0005t0001g0112	1	388	0.0026	1213	c.-38 others(1232): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(1206): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCA GGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGA GGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGG AGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGG GAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAG GAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAA AGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGG AGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGG AAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAG GAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGAAAGAA AGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGGAAGG AAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAG GAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAA AGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0001 a0003c0027t0001	a0003c0027t0001g0002 a0003c0027t0001g0002	1	88	0.0114	1213	c.507 others(1232): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAG GAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAG AAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGA GGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGG AGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGG AAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAA GAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGGAAGAA AGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAACAAAGGAAGGAAGAAAGA AAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAG GAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAA GGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGG AGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAA GAAAGGAGGGAGGGAGGGAGGGAGGAAGGAACAAAGGAAGGAAGAAAGAA AGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGGAAGAAAGA AAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAG GAAGGAACAAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAA CAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAA AAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAG GAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTGCCC others(1206): Show CCCTGCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTGCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCC CGCTCCCCCTCCTCCCCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCGCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCTCTCCCTTCCCCCTCCCCC TCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCC TCCTCCCCTCCCTCCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTCCTT CACCTCCCCCTCCCCCCAATCACCTCCCCCTCCCCCCGCTCACCTCCCCC TCCCCCCACTCCTCCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCCTGCC CTTCCCCTCCCTCCTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCC CCCTCCCCCTCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCC TCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCCTTCCCCCT CCCCCTTCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCT TCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTTCCCCTTCCCC TCCCCCTTACTCTCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCC CCTCCCCTCCCCCCTCTCCCTCACCCTCACCCTCCCCCTTCTCCTCCCCT CCCCCCTCTCCATCCCCCTCCCCCTCCCCCTTCTCCTCCCCTCCTCCTCC TTCCCGTCTCCCTCCCCATCTCCATCCCCCTCCCCCTCCTCCTCCTCCTC CTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0143 a0001c0001t0016g0143	1	194	0.0052	1213	c.-12 others(1232): Show c.-12-17670_-12-17669insGCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCCCCCTG CCCCTCCTCCCCTCCCTTCCCGCTCCCCCTCCTCCCCTCCCTTCCCGCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTG CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCGCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTC CTCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTC CCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCTCTTCTTT CACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAATCACCTCCCCC TCCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCTCTCACTCCTCC CCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCCTCCCCCT CTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCCGTTCCCCCTCCCCCTT CCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCC TTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCC CTCCCCTCCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCC TTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCC CTTCCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCT CCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCAC CCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCC TTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCC TCCCCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(1206): Show TCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCC TTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTT CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTTCCCTACCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCC TTCCTTCCCTACCCTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTC CCTTCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0100 a0001c0001t0017g0100	1	178	0.0056	1213	c.773 others(1228): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCC CTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTC CTTCCCTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTCCC TTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTTCCCTTCCTTCCCTACCCTCCCTTCCTTCCTTCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTC CCTACCCTCCCTTCCTTCCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(1206): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCCC ACTCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0002 a0018c0026t0002	a0018c0026t0002g0266 a0018c0026t0002g0266	1	282	0.0036	1213	c.25 others(1224): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCC TGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGTAA GGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTC TCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGG GGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGC CCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAG GAGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTC AGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGG GTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCC CGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAA GGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGG GGTCAGGGCCCGGGGAAGGGGGCTCTCAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(1206): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCCC ACTCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG03225.hp1 others(2): Show HG02723.hp2 HG02886.hp2 HG03225.hp1 HG03486.hp2 NA19088.hp1	a0001 a0018 a0054 others(1): Show a0001 a0018 a0054 a0062	a0001c0008 a0018c0026 a0054c0041 others(1): Show a0001c0008 a0018c0026 a0054c0041 a0062c0098	a0001c0008t0002 a0018c0026t0002 a0054c0041t0002 others(1): Show a0001c0008t0002 a0018c0026t0002 a0054c0041t0002 a0062c0098t0009	a0001c0008t0002g0188 a0001c0008t0002g0205 a0018c0026t0002g0226 others(2): Show a0001c0008t0002g0188 a0001c0008t0002g0205 a0018c0026t0002g0226 a0054c0041t0002g0109 a0062c0098t0009g0005	5	282	0.0177	1213	c.25 others(1224): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCC TGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGTAA GGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTC TCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGG GGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGC CCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAG GAGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTC AGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGG GTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGACC CGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAA GGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGG GGTCAGGGCCCGGGGAAGGGGGCTCTCAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(1206): Show CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGTCCTGACCCCCACTCATA CCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGA GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCTCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTTCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCTTACCCGGGCCCTGACCCCC ACTCATACCCCTGAGAGCCCCCCTTCCCCAGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0083 a0083	a0083c0051 a0083c0051	a0083c0051t0002 a0083c0051t0002	a0083c0051t0002g0047 a0083c0051t0002g0047	1	282	0.0036	1213	c.25 others(1224): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTC AGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCC GGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGG GGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCT CGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGG TCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCC TGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGTAA GGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTC TCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTAT GAGTGGGGGTCAGGGCCCGGGAAAGGGGGGCTCTCAGGGGTATGAGTGGG GGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGC CCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAG GAGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTC AGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCAT GAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGG GTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGACC CGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAA GGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGG GGTCAGGGCCCGGGGAAGGGGGCTCTCAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1206): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGT GAGGGGCTCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGCGGGGAGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC AGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC GGGAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCCGCCCGGCCAGCTGCCCCGTCTGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCA GCCGCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCC CCGTCCGGGAGGAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0025 a0025	a0025c0072 a0025c0072	a0025c0072t0001 a0025c0072t0001	a0025c0072t0001g0095 a0025c0072t0001g0095	1	134	0.0075	1213	c.575 others(1234): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCAGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCC CACCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCTGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGCTGACCCCCCCCTCCCCGCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGAGCCCCTCACCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(1206): Show CATATATATATTCCATATATATATATTCCATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATTCCATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT TCCATATATATTCCATATATATATTCCATATATATATTCCATATATATAT ATATTCCATATATATATTCCATATATATATTCCATATATATATATATTCC ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	324	0.0031	1213	c.115 others(1230): Show c.115-2706_115-2705insATATATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATATATGGAA TATATATATGGAATATATATATGGAATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERPINF2_chr17_1737871_1760265	1739246	C C	CGCAGGAC others(1206): Show CGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTG AGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGC CTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTG AGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	445	0.0023	1213	c.-36 others(1224): Show c.-3667_-3666insGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGC CTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAG GCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGC CTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGCACAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTG AGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3624		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1741337	G G	GGGCCTGA others(1206): Show GGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC AGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCTGGACAGTGA GGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTG GGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGGGGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCGGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGTAGGGAGTGA GGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGG AGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGG CGCAGGACACTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	445	0.0023	1213	c.-15 others(1224): Show c.-1576_-1575insGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCTGGACAGTGAGGATGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC AGGACAGTGAGGGTGGGAAGTGGCCCGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAGGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGTAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAG TGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTG ATGCAGGGAGTGAGGCGCAGGACACTGAGGGTGGGAAGGAGCCTGATTCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAGGGTGGGAGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		1533		chr17	TogoVar
TTLL8_chr22_50013575_50063298	50028931	C C	CCCCACAC others(1206): Show CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCACACACCCTC GTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCG TCCTGAAGACCCTCACACACACTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACA CACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATC ACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAG ACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCC TCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAA GACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCC ATCACACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACC CCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCA CACCATCCTGAAGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0135 a0003c0003t0001g0135	1	224	0.0045	1213	c.225 others(1232): Show c.2251+1498_2251+1499insTCTTCAGGATGGTGTGATGGGGTCTT TACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGT GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGAC GGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTC TTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGGTCTTTAC GAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAG GATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTT ACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGT GTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGG ACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGTGTGTGTGAGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTA CGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGG GGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UCN3_chr10_5359966_5379692	5369863	G G	GGGTGTGT others(1206): Show GGGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTATGTGTGTGTAT ATGTGTGTGTGTATGTGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTG TGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTG TGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGTGTATATGCGTG TGTGTATGTGTGTATGTGTGTGTATATGCGTGTGTATATATGTGTGTGTA TATGTGTGTATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTGTGTG TATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATG CGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGTATATGCG TGTGTATATGCGTGTGTGTATGTGTGTATGTGTGTGTGTGTATATGTGTG TGTATGTGTGTGTATATGCGTGTGTATATGTGTGGATGCGTGTGTGTATG TGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATATGCGTGTGTGTATG TGTGTGTGTATGTGTGTGTATGCGTGTGTATGTGTGTATGTGTGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTG TATATGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTATATG TGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTA TATGTGTGTGTATGTGTGTGTATGCGTGTCTGTATATGTGTGTATATGCG TGTGTATGCGTGTGTATGCGTGTGTATGTGTGTGTGTATATGTGTGTATG TGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTATATA TGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTGTATGTGTGTA TGTGTGTGTGTATGCGTGTGTATATGCGTGTGTGTATGCGTGTGTATGTG TGTGTGTGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATGTGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTGTATGCGTG TGTGTATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTGTG TATGTGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTG TGTATATGTGTGTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0176 a0002c0001t0001g0176	1	468	0.0021	1213	c.-6- others(1228): Show c.-6-3852_-6-3851insGGTGTGTGTGTGTGTGTGTGTATGTGTGTG TGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTTCATGTGTATG TGTGTAAGGTGTGTATGTGTGTGTGTATATGTGTGTGTATATGTGTGTGT ATATGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGT ATATGTGTGTATATGCGTGTGTGTATGTGTGTATGTGTGTGTATATGCGT GTGTATATATGTGTGTGTATATGTGTGTATATGTGTGTGTATATGTGTGT GTATATGCGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGT GTATATGTGTGTGTGTATGCGTGTGTATGCGTGTGTATATGTGTGTGTAT ATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTGTATGTGTGTATGT GTGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGT GTGGATGCGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGT GTATATGCGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGCGTGTGTAT GTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGCGTGTGTATATGTGT GTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTAT GTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGCGTGTCT GTATATGTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGTGT GTGTGTATATGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGCGTGT GTATATGTGTGTGTATATATGTGTGTATGTGTGTGTATGTGTGTGTATAT GCGTGTGTGTATGTGTGTATGTGTGTGTGTATGCGTGTGTATATGCGTGT GTGTATGCGTGTGTATGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATAT GCGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATGCGTGTGTGTATGCGTGTGTGTATGCGTGTGTATATGTGTGTGTGTAT GTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGT GTATGTGTGTGTATGTGTGTGTATATGTGTGTA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UCN3_chr10_5359966_5379692	5369863	G G	GGGTGTGT others(1206): Show GGGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTATGTGTGTGTAT ATGTGTGTGTGTATGTGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTG TGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTG TGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGTGTATATGCGTG TGTGTATGTGTGTATGTGTGTGTATATGCGTGTGTATATATGTGTGTGTA TATGTGTGTATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTGTGTG TATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATG CGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGTATATGCG TGTGTATATGCGTGTGTGTATGTGTGTATGTGTGTGTGTGTATATGTGTG TGTATGTGTGTGTATATGCGTGTGTATATGTGTGGATGCGTGTGTGTATG TGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATATGCGTGTGTGTATG TGTGTGTGTATGTGTGTGTATGCGTGTGTATGTGTGTATGTGTGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTG TATATGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTATATG TGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTA TATGTGTGTGTATGTGTGTGTATGCGTGTGTGTATATGTGTGTATATGCG TGTGTATGCGTGTGTATGCGTGTGTATGTGTGTGTGTATATGTGTGTATG TGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTATATA TGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTGTATGTGTGTG TATGTGTGTGTGTATGCGTGTGTATATGCGTGTGTGTATGCGTGTGTATG TGTGTGTGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATGTGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTGTATGCGTG TGTGTATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTGTG TATGTGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTG TGTATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0177 a0002c0001t0001g0177	1	468	0.0021	1213	c.-6- others(1228): Show c.-6-3852_-6-3851insGGTGTGTGTGTGTGTGTGTGTATGTGTGTG TGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTTCATGTGTATG TGTGTAAGGTGTGTATGTGTGTGTGTATATGTGTGTGTATATGTGTGTGT ATATGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGT ATATGTGTGTATATGCGTGTGTGTATGTGTGTATGTGTGTGTATATGCGT GTGTATATATGTGTGTGTATATGTGTGTATATGTGTGTGTATATGTGTGT GTATATGCGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGT GTATATGTGTGTGTGTATGCGTGTGTATGCGTGTGTATATGTGTGTGTAT ATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTGTATGTGTGTATGT GTGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGT GTGGATGCGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGT GTATATGCGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGCGTGTGTAT GTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGCGTGTGTATATGTGT GTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTAT GTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGCGTGTGT GTATATGTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGTGT GTGTGTATATGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGCGTGT GTATATGTGTGTGTATATATGTGTGTATGTGTGTGTATGTGTGTGTATAT GCGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGCGT GTGTGTATGCGTGTGTATGTGTGTGTGTGTGTGTGTATGTGTGTGTATAT GCGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATGCGTGTGTGTATGCGTGTGTGTATGCGTGTGTATATGTGTGTGTGTAT GTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGT GTATGTGTGTGTATGTGTGTGTATATGTGTGTA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UCN3_chr10_5359966_5379692	5369863	G G	GGGTGTGT others(1206): Show GGGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTATGTGTGTGTAT ATGTGTGTGTGTATGTGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTG TGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTG TGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGTGTATATGCGTG TGTGTATGTGTGTATGTGTGTGTATATGCGTGTGTATATATGTGTGTGTA TATGTGTGTATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTGTGTG TATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATG CGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGTATATGCG TGTGTATATGCGTGTGTGTATGTGTGTATGTGTGTGTGTGTATATGTGTG TGTATGTGTGTGTATATGCGTGTGTATATGTGTGGATGCGTGTGTGTATG TGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATATGCGTGTGTGTATG TGTGTGTGTATGTGTGTGTATGCGTGTGTATGTGTGTATGTGTGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTG TATATGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTATATG TGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTA TATGTGTGTGTATGTGTGTGTATGCGTGTGTGTATATGTGTGTATATGCG TGTGTATGCGTGTGTATGCGTGTGTATGTGTGTGTGTATATGTGTGTATG TGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTATATA TGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTGTATGTGTGTG TATGTGTGTGTGTATGCGTGTGTATATGCGTGTGTGTATGCGTGTGTATG TGTGTGTGTGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATGTGTGTG TATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTGTATGCG TGTGTGTATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTG TGTATGTGTGTGTGTATGTGTATATGTGTGTGTATGTGTGTGTATGTGTG TGTATATGTGTGTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0178 a0002c0001t0001g0178	1	468	0.0021	1213	c.-6- others(1228): Show c.-6-3852_-6-3851insGGTGTGTGTGTGTGTGTGTGTATGTGTGTG TGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTTCATGTGTATG TGTGTAAGGTGTGTATGTGTGTGTGTATATGTGTGTGTATATGTGTGTGT ATATGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGT ATATGTGTGTATATGCGTGTGTGTATGTGTGTATGTGTGTGTATATGCGT GTGTATATATGTGTGTGTATATGTGTGTATATGTGTGTGTATATGTGTGT GTATATGCGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGT GTATATGTGTGTGTGTATGCGTGTGTATGCGTGTGTATATGTGTGTGTAT ATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTGTATGTGTGTATGT GTGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGT GTGGATGCGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGT GTATATGCGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGCGTGTGTAT GTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGCGTGTGTATATGTGT GTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTAT GTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGCGTGTGT GTATATGTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGTGT GTGTGTATATGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGCGTGT GTATATGTGTGTGTATATATGTGTGTATGTGTGTGTATGTGTGTGTATAT GCGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGCGT GTGTGTATGCGTGTGTATGTGTGTGTGTGTGTGTGTGTATGTGTGTGTAT ATGCGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT GTATGCGTGTGTGTATGCGTGTGTGTATGCGTGTGTATATGTGTGTGTGT ATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATGTGTATATGTGTGT GTATGTGTGTGTATGTGTGTGTATATGTGTGTA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UCN3_chr10_5359966_5379692	5369863	G G	GGGTGTGT others(1206): Show GGGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTATGTGTGTGTAT ATGTGTGTGTGTATGTGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTG TGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTG TGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGTGTATATGCGTG TGTGTATGTGTGTATGTGTGTGTATATGCGTGTGTATATATGTGTGTGTA TATGTGTGTATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTGTGTG TATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATG CGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGTATATGCG TGTGTATATGCGTGTGTGTATGTGTGTATGTGTGTGTGTGTATATGTGTG TGTATGTGTGTGTATATGCGTGTGTATGTGTGGATGCGTGTGTGTATGTG TGTATGTGTGTGTATGTGTGTGTATGTGTGTATATGCGTGTGTGTATGTG TGTGTATGCGTGTGTGTATGTGTGTGTATGCGTGTGTATGTGTGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTG TATGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTATATG TGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTATA TGTGTGTGTATGTGTGTGTATGCGTGTGTGTATATGTGTGTATATGCGTG TGTATGCGTGTGTATGCGTGTGTATGTGTGTGTGTATATGTGTGTATGTG TGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTATATATG TGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTGTATGTGTGTGTA TGTGTGTGTGTATGCGTGTGTATATGCGTGTGTGTATGCGTGTGTATGTG TGTGTGTGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATGTGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTGTATGCGTG TGTGTATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTGTG TATGTGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTG TGTATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0181 a0002c0001t0001g0181	1	468	0.0021	1213	c.-6- others(1228): Show c.-6-3852_-6-3851insGGTGTGTGTGTGTGTGTGTGTATGTGTGTG TGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTTCATGTGTATG TGTGTAAGGTGTGTATGTGTGTGTGTATATGTGTGTGTATATGTGTGTGT ATATGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGT ATATGTGTGTATATGCGTGTGTGTATGTGTGTATGTGTGTGTATATGCGT GTGTATATATGTGTGTGTATATGTGTGTATATGTGTGTGTATATGTGTGT GTATATGCGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGT GTATATGTGTGTGTGTATGCGTGTGTATGCGTGTGTATATGTGTGTGTAT ATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTGTATGTGTGTATGT GTGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGTGT GGATGCGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGT ATATGCGTGTGTGTATGTGTGTGTATGCGTGTGTGTATGTGTGTGTATGC GTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGTGT GTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGT GTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTATGCGTGTGTGT ATATGTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGTGTGT GTGTATATGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGCGTGTGT ATATGTGTGTGTATATATGTGTGTATGTGTGTGTATGTGTGTGTATATGC GTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGCGTGT GTGTATGCGTGTGTATGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATAT GCGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGT ATGCGTGTGTGTATGCGTGTGTGTATGCGTGTGTATATGTGTGTGTGTAT GTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGT GTATGTGTGTGTATGTGTGTGTATATGTGTGTA	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
ULK1_chr12_131889622_131928150	131917328	T T	TGGGGGTC others(1206): Show TGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGG GGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGA GGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCT GTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGG GGAGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGG GACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAG CTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCG GAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGG TCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGG GTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGT GGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGG AGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGA TGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGG GGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGA GGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTC GGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCT GTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCT CGAGGCTGTGGGAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0076 a0002c0026t0001g0076	1	344	0.0029	1213	c.218 others(1228): Show c.2183-72_2183-71insGGGGCTCGGAGGCTGTGGGACGGGGGTCGG GTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGT GGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGG AGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCT CGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGG GGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGA GGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTC GGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAG CTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCG GAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGG TCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGG CTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGG GTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGT GGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGG AGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA TGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCT CGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(1206): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCACCACCACCATTATCACCAGGACC AGCACCATCACCATCACTATCTCTATACCCACCACCACCACCACTGTCAT CATTGTCACTACTACCACTCCTGTCATCACCACCACCACCACCATTATCA CCAGGACCAGCACCATCACCATCACTATCTCTATACCCACCACCACCACC ACTGTCATCATTGTCACTACTACCACTCCTGTCATCACCACCACCACCAC CATTATCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCA TCACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCC ACCACCACCACTGTCATCATTGTCACTACCACCACTACTATCGTCACCAC CATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCA CTACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCATCAGC ATCACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCAC CACTACTATCGTCACCACCATCACCACTACCACCACCATTATCACCAGCA CCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCACC ACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCTCCACTGT CATCATTGTCACTACCACCACTACTGTCATCATCACCATTATCACCAGCA CCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCACAGTCATC ATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCACCATTATCAC CAGCACCACCGCCATTATCACCAGCACCACTGCCATCAGCATCACCATCA CCATCTTTGTACTCATCACCATCATCGTCACCACCGCGCCACCACCATCA CTGCCACCACTATTATCACTAGCACTACCACCATCAGCATCAGCATCACC ATCTGTATACTCACCACCATTACCATCATCGTCATCACTGCCACCACCAT CACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGTCACCA TACCACTCTCATCT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0109 a0001c0003t0001g0109	1	228	0.0044	1213	c.127 others(1230): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCACCACCACCATTA TCACCAGGACCAGCACCATCACCATCACTATCTCTATACCCACCACCACC ACCACTGTCATCATTGTCACTACTACCACTCCTGTCATCACCACCACCAC CACCATTATCACCAGGACCAGCACCATCACCATCACTATCTCTATACCCA CCACCACCACCACTGTCATCATTGTCACTACTACCACTCCTGTCATCACC ACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCACTACCAC CACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCACTA TCTCTATACCCACCACCACCACTGTCATCATTGTCACTACCACCACTACT ATCGTCACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCAC CATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGTA CCACCATCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCATT GTCACTACCACCACTACTATCGTCACCACCATCACCACTACCACCACCAT TATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCA CCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACC ACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCAT TATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCA CCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACC ACCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCATCAG CATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACCGCGC CACCACCATCACTGCCACCACTATTATCACTAGCACTACCACCATCAGCA TCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCATCACT GCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGT CACTGTCACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(1206): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCACCACCACCATTATCACCAGGACC AGCACCATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCAT CATTGTCACTACTACCACTCCTGTCATCACCACCACCACCACCATTATCA CCAGGACCAGCACCATCACCATCACTATCTCTATACCCACCACCACCACC ACTGTCATCATTGTCACTACTACCACTCCTGTCATCACCACCACCACCAC CATTATCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCA TCACCGCCACCATCACCAGTACCACCATCAGCATCACTATCTCTATACCC ACCACCACCACTGTCATCATTGTCACTACCACCACTACTATCGTCACCAC CATCACCACTACCACCACCATTATCACCAGCACCAGCACCATCAGCATCA CTACCACCACCAGTGTCATCACCGCCACCACCACCAGTACCACCATCAGC ATCACTATCTCTATACCCACCACCTCCACTGTCATCATTGTCACTACCAC CACTACTATCGTCACCACCATCACCACTACCACCACCATTATCACCAGCA CCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCACC ACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCTCCACTGT CATCATTGTCACTACCACCACTACTGTCATCATCACCATTATCACCAGCA CCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCACAGTCATC ATTGTCACTACTACCACTCCTGTCATCACCAGCACCACCACCATTATCAC CAGCACCACCGCCATTATCACCAGCACCACTGCCATCAGCATCACCATCA CCATCTTTGTACTCATCACCATCATCGTCACCACCGCGCCACCACCATCA CTGCCACCACTATTATCACTAGCACTACCACCATCAGCATCAGCATCACC ATCTGTATACTCACCACCATTACCATCATCGTCATCACTGCCACCACCAT CACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGTCACTGTCACCA TACCACTCTCATCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18950.hp2 NA19074.hp1 NA18747.hp1 NA18950.hp2 NA19074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0205 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0205 a0001c0003t0001g0207 a0001c0003t0001g0210	3	228	0.0132	1213	c.127 others(1230): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCACCACCACCATTA TCACCAGGACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACC ACCACTGTCATCATTGTCACTACTACCACTCCTGTCATCACCACCACCAC CACCATTATCACCAGGACCAGCACCATCACCATCACTATCTCTATACCCA CCACCACCACCACTGTCATCATTGTCACTACTACCACTCCTGTCATCACC ACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCACTACCAC CACCAGTGTCATCACCGCCACCATCACCAGTACCACCATCAGCATCACTA TCTCTATACCCACCACCACCACTGTCATCATTGTCACTACCACCACTACT ATCGTCACCACCATCACCACTACCACCACCATTATCACCAGCACCAGCAC CATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCACCACCAGTA CCACCATCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATCATT GTCACTACCACCACTACTATCGTCACCACCATCACCACTACCACCACCAT TATCACCAGCACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCA CCGCCACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACC ACCTCCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCAT TATCACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCA CCACAGTCATCATTGTCACTACTACCACTCCTGTCATCACCAGCACCACC ACCATTATCACCAGCACCACCGCCATTATCACCAGCACCACTGCCATCAG CATCACCATCACCATCTTTGTACTCATCACCATCATCGTCACCACCGCGC CACCACCATCACTGCCACCACTATTATCACTAGCACTACCACCATCAGCA TCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGTCATCACT GCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCATCATCGT CACTGTCACCATACCACTCTCATCTTCACCACCAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR81_chr17_1719704_1743585	1739246	C C	CGCAGGAC others(1206): Show CGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTG AGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGC CTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCACAGGACAGTG AGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0001 a0001c0012t0001g0001	1	431	0.0023	1213	c.15 others(1224): Show c.1561_*1562insGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGC CTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAG GCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGC CTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGAT GCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTG AGGCACAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCG CAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTG AGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGA	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		662		chr17	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TAAATATA others(1207): Show TAAATATATAAATATATAAATATTTATATATTTATAAATATATAAATATA TAAATATTTATATATTTATAGATAAATGTATAAATATTTATATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAA TATATATATATAAATATTTATATATTTATAGATAAATATATATATATAAA TATTTATATATTTATAGATAAATATATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATATAAATATTTATAGATAAATATATAAATA TATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATTTA TAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0006 a0001c0038t0006	a0001c0038t0006g0190 a0001c0038t0006g0190	1	306	0.0033	1214	c.130 others(1233): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATAT TTATCTATAAATATTTATATATTTATATATTTATCTATAAATATATAAAT ATTTATATATTTATATATTTATCTATAAATATATAAATATTTATATATAT ATATTTATCTATAAATATATAAATATTTATATATATATATTTATCTATAA ATATATAAATATTTATATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAA AAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCT ATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTAT ACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAT AAATATTTATACATTTATCTATAAATATATAAATATTTATATATTTATAT ATTTATAAATATATAAATATTTATATATTTATATATTT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADPRHL1_chr13_113394611_113458488	113418997	T T	TCCCTCCC others(1207): Show TCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCC TTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCGTCCCCTCCCC TTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTT CCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTT CCCCGTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCC TCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCC TTCCTTCACTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTC CCCTCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCCCTCCC TCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCT TTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCC CCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCC CTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCC CTCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCC CCTCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCC TTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0103 a0004c0005t0103	a0004c0005t0103g0253 a0004c0005t0103g0253	1	262	0.0038	1214	c.106 others(1233): Show c.1061+3828_1061+3829insGAGGGAGGGAGGGAAGGAAAAGAAGG AAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAG AAAGGAAGGGAGGGAGGGAGGGAGGGGAGGGAGGGAAGGAAAAGAAGGAA GGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAA GAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAA AGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGG GGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGG AAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGA AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGAAGGAAAAGAAGG AAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGACGGGGAAGAAAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGG AGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAA GGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAC GGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAG AAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAG GGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1207): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAA GGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAAAGGAAGGGAAGGGG AAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAGGAAGGAGAAGAGGAGGG GAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAAGGGAGAGGGAGGGG GCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAA TGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGAAGGGGAA GGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGG GGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGG GAGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATG GAAGGGAAGGGAAAGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGG AGGAGAAGGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGG GAGGGGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGA GGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAA GGGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGG AGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGTGGAA GGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAG GGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGAAG GGGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAGGGAAGAGAAAG GAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAAAAGGAGAA GAAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGAGG GGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGG GAAAGGGAAGGGGAAGATGAAGGGGAAGGGAAGGGGAAGATGAAGGGGAA GGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAAGGAAGGGGAA GGGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG02004.hp1 others(3): Show HG00438.hp1 HG00597.hp2 HG02004.hp1 HG03017.hp1 NA18747.hp2 NA19007.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0064 a0002c0004t0002g0065 a0002c0004t0002g0066 others(3): Show a0002c0004t0002g0064 a0002c0004t0002g0065 a0002c0004t0002g0066 a0002c0004t0002g0070 a0002c0004t0002g0073 a0002c0004t0002g0149	6	242	0.0248	1214	c.927 others(1231): Show c.927+4817_927+4818insCCCCTTCCCCTCCCCTTCCCCTTCCTTT CCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCT TCCCCTTCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCCTCCCC TTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTTCCT TCCTTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCC TTCCCCTTCCCCTCCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCT TCCCCTTCCCTTCCCTTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTT CCCCTTCCTTTCCCTTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCT TCCCCTTCCCCTTCCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCT TCCCCCCCTTCCTTTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCC TCTTCTCCTTCCTTTTCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTC CCCTCCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCT CTTCTCCTTCCTTTTCCCTTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTC CCTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTCCATTCCCCTTTCC TTTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCC CCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCCT TCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCTTC CCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCCTCCCTCTCC CTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCTTCTC CTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCTTCCCTTCC TTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTC CCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar

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Search Results (Total: 10000 hits)