Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	status	chr	external
NOC4L_chr12_132139457_132157468	132149842	C C	CACCACAC others(521): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	294	0.0034	528	c.901 others(543): Show c.901+985_901+986insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14	INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149960	C C	CGCCGCCT others(521): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	294	0.0034	528	c.902 others(545): Show c.902-1013_902-1012insGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14	INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150277	C C	CACCACAC others(521): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	294	0.0034	528	c.902 others(543): Show c.902-631_902-630insGGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCATACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14	INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150307	C C	CGCCGCCT others(521): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	294	0.0034	528	c.902 others(543): Show c.902-666_902-665insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC CTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14	INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150747	C C	CGCCGCCT others(521): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCTGCCGC CTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	294	0.0034	528	c.902 others(543): Show c.902-217_902-216insACACCCCTAATCCCCTCGGTGAGTGCTGCC GCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCA CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14	INFO_REALIGN_3_PRIME	chr12	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCCCTCC others(521): Show TCCCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0043 a0001c0001t0011g0043	1	326	0.0031	528	c.433 others(545): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGG GAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGG GGAGGGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5		chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCT others(521): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCTCCTCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCACCCTCCCCCCCTCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTC CCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCT TCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	326	0.0031	528	c.433 others(545): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAA GGGGAGGGGGGGAGGGTGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGAGGAGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5		chr1	TogoVar
NXN_chr17_794310_984776	949548	C C	CCTCCTCC others(521): Show CCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCC CCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCT CCTCTCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCG GCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCC TCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCGCTGCCTCCTCCTCTCCCCGCGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	242	0.0041	528	c.360 others(547): Show c.360+29770_360+29771insCCCGCGGGGAGAGGAGGAGGCAGCGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGA GGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCG GGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7		chr17	TogoVar
OR6J1_chr14_22625929_22649352	22637541	G G	GCCAGCCG others(521): Show GCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGG GAGGTGGGGGGGTCAGCCCCCCCGCCCCGGCCGGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGG GAGGTGGGGGATCAGCCCCCCGCCCGCCGGCCACCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	362	0.0028	528	c.-27 others(545): Show c.-27-2704_-27-2703insTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGCTGATCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGTGGCCGGCGGGCGGGGGGCTGATCCCCCACCT CCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCCGGCCGGGGCGGGGGGGCTGACCCCCCCACCT CCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1		chr14	TogoVar
PAK2_chr3_196734857_196837647	196811213	T T	TTCCTTCC others(521): Show TTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTC CTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCC CTCCCTCCTTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTT TCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTT CCTTCCTTCCTTCCCTTCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0044 a0001c0007t0044	a0001c0007t0044g0054 a0001c0007t0044g0054	1	178	0.0056	528	c.773 others(543): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCCTCCCTCCTTCCCTTCCTTCCTTCCTCCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCC CTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14	INFO_REALIGN_3_PRIME	chr3	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(521): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	292	0.0034	528	c.718 others(545): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924094	T T	TGAACACT others(521): Show TGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC ATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	292	0.0034	528	c.718 others(545): Show c.718-5817_718-5816insTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCA TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGA GTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924179	C C	CGTGGATA others(521): Show CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCA TGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAAC ACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC TGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGT GAGGAGATGCGAACACCGGGAACAGTCGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	292	0.0034	528	c.718 others(545): Show c.718-5734_718-5733insATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924233	T T	TGGGAACA others(521): Show TGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGG TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAA GGTCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGGTA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGG AACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGA TCGGGTGTGCGTGAGGAGATGTGAACACC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	292	0.0034	528	c.718 others(545): Show c.718-5673_718-5672insAGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACA GTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACA GCACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGT CGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGC GAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAAACAGC ACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924316	G G	GTAGAAAC others(521): Show GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGT AGAAACAGCACACGTAAGATCAGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCAGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0001g0132 a0001c0001t0001g0160	2	292	0.0069	528	c.718 others(545): Show c.718-5571_718-5570insACGAGGAGATGCGAACACCGGGAACAGT CGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGC ACACGTAAGATCAGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCG AGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCG TGGGTAGAAACAGCACACGTAAGATCAGGTGTGCGTGAGGAGATGCGAAC ACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924316	G G	GTAGAAAC others(521): Show GTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAG GTCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	292	0.0034	528	c.718 others(545): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTG CACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCACA CGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924358	C C	CGAACACT others(521): Show CGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTC ACGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAACACA CGTAAGATCGGGTGTGCGTGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	292	0.0034	528	c.718 others(545): Show c.718-5553_718-5552insTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTG GATAGAAACAACACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924377	A A	AGTGGGTA others(521): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 homoSapiens_chm13v2.hp1 HG01070.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0287 a0001c0001t0002g0262 a0001c0001t0002g0287	2	292	0.0069	528	c.718 others(545): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924431	C C	CGGGAACA others(521): Show CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGG TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGA GGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATA GAAACAACACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGCGAACACT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp1 NA19240.hp2 HG03209.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0010g0195 a0001c0001t0010g0196 a0001c0001t0010g0197	3	292	0.0103	528	c.718 others(545): Show c.718-5470_718-5469insATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAACACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924478	C C	CACGAGGA others(521): Show CACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCACGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCACGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGG ATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	292	0.0034	528	c.718 others(545): Show c.718-5439_718-5438insACGAGGAGATGTGAACACTGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCACGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCA CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924546	T T	TGAGGAGA others(521): Show TGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	292	0.0034	528	c.718 others(545): Show c.718-5343_718-5342insCGTGGATAGAAACAGCACACGTAAGATC GGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACA GTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCGTGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACA GCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924575	A A	AGTGGATA others(521): Show AGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	292	0.0034	528	c.718 others(545): Show c.718-5307_718-5306insACGAGGAGATGTGAACACTGGGAACAGT CGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGC GAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924642	G G	ATGGATAG others(521): Show ATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGCG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	292	0.0034	528	c.718 others(545): Show c.718-5276_718-5275insATGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924646	G G	GTAGAAAC others(521): Show GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGCGTGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	292	0.0034	528	c.718 others(545): Show c.718-5241_718-5240insACGAGGAGATGTGAACACTGGGAACAGT CGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924666	A A	ATCGGGTG others(521): Show ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGATAGAAACAGCACACGTAAGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	292	0.0034	528	c.718 others(545): Show c.718-5206_718-5205insGTAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACG TAAGGTCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924754	T T	TGAACACT others(521): Show TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACTGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19056.hp1 NA19087.hp2 NA18940.hp1 NA19056.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0288 a0001c0001t0002g0229 a0001c0001t0002g0271 a0001c0001t0001g0288 a0001c0001t0002g0229 a0001c0001t0002g0271	3	292	0.0103	528	c.718 others(545): Show c.718-5157_718-5156insTGGGAACAGTCGCATGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924754	T T	TGAACACT others(521): Show TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACTGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18983.hp2 NA18946.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0283 a0001c0001t0002g0284	2	292	0.0069	528	c.718 others(545): Show c.718-5157_718-5156insTGGGAACAGTCGCATGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925084	C C	CGAACACC others(521): Show CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGG TGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTC GAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCG AACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGGTCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	292	0.0034	528	c.718 others(545): Show c.718-4815_718-4814insAGTGGGTAGAAACAGCACACGTAAGGTC GGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACA GTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGAT GCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACA GCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGC GAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGC ACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925128	A A	ATCGGGTG others(521): Show ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACGGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAACACTGGGAACAG TCGAGTGGATAGAAACAGCACACGTAAGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02523.hp2 NA18962.hp1 others(2): Show HG02015.hp1 HG02523.hp2 NA18962.hp1 NA19007.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 others(2): Show a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258	5	292	0.0171	528	c.718 others(545): Show c.718-4779_718-4778insACGAGGAGATGTGAACACTGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCGTGAGGAGATGCGAACACCGGGAACGGTCGAGTGGGTAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCG CGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCAAAC ACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGTCGGGTGTGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925140	T T	TGAGGAGA others(521): Show TGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	292	0.0034	528	c.718 others(545): Show c.718-4760_718-4759insGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTG CACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45925150	C C	CGAACACC others(521): Show CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGG TGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTC GAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTG CACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	292	0.0034	528	c.718 others(545): Show c.718-4760_718-4759insGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGGTCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17	INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	716767	G G	GTGAGTGT others(521): Show GTGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTG TGAGAACTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGA ACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGG GCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTC GGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGC TGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTGGACACTGAGT GTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGTGTGAGAACT GGGCGTCGGTGCTGGGATCCTGAAGACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01071.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0002c0002t0046 a0001c0001t0028 a0002c0002t0046	a0001c0001t0028g0023 a0001c0001t0028g0024 a0002c0002t0046g0005 a0001c0001t0028g0023 a0001c0001t0028g0024 a0002c0002t0046g0005	3	366	0.0082	528	c.-19 others(549): Show c.-190+10814_-190+10815insTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGA GTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTG AGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAAC TGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGC GTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGG TGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTG GGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTAGACACTGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTGGA CACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTAGACACTGTG TGAGAACTGGGCGTCGGTGCTGGGATCCTGAAGACACTGAGTGTGAGAAC TGGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10	INFO_REALIGN_3_PRIME	chr4	TogoVar
PGBD2_chr1_248901235_248924146	248911714	A A	ACCTCCCA others(521): Show ACCTCCCAGGCGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02630.hp2 others(6): Show HG01884.hp1 HG02559.hp2 HG02630.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0191 a0001c0001t0001g0194 others(5): Show a0001c0001t0001g0050 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199	9	422	0.0213	528	c.-47 others(545): Show c.-47-2096_-47-2095insAGGCGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGG ATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2	INFO_REALIGN_3_PRIME	chr1	TogoVar
PIAS4_chr19_4002736_4044386	4035959	A A	ACACCCGC others(521): Show ACACCCGCACACATCCATACAGTCCACACCATAACACACACACCCGCACA CATCCATACAGTCCACACCATAACACACACACCCGCACACATCCATACAG TCCACACCATAACACACACACCCGCACACATCCATCCAGTCCACACCATA ACACACACACCCGCACACATCCATACAGTCCACACCATAACACACACACA CCCGCACACATCCATACAGTCCATACCATCACACACACCCACACACATCC ATACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCAC ACCATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACA CACACCCGCACACATCCATACAGTCCACACCGTCTCACACACACACCCGC ACACATCCATACAGTCCACACCATAACACACACACCTGCACACATCCATA CAGTCCACACCATCACACACACATCCATACAATCCACACCGTCACACACA TCCATACAGTCCACACCATCACACACATC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	334	0.0030	528	c.114 others(547): Show c.1143-1413_1143-1412insCCCGCACACATCCATACAGTCCACAC CATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACACA CACCCGCACACATCCATACAGTCCACACCATAACACACACACCCGCACAC ATCCATCCAGTCCACACCATAACACACACACCCGCACACATCCATACAGT CCACACCATAACACACACACACCCGCACACATCCATACAGTCCATACCAT CACACACACCCACACACATCCATACAGTCCACACCATAACACACACACCC GCACACATCCATACAGTCCACACCATAACACACACACCCGCACACATCCA TACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCACA CCGTCTCACACACACACCCGCACACATCCATACAGTCCACACCATAACAC ACACACCTGCACACATCCATACAGTCCACACCATCACACACACATCCATA CAATCCACACCGTCACACACATCCATACAGTCCACACCATCACACACATC CA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10	INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4035959	A A	ACACCCGC others(521): Show ACACCCGCACACATCCATACAGTCCATACCATAACACACACACCCGCACA CATCCATACAGTCCACACCATAACACACACACCCGCACACATCCATACAG TCCACACCATAACACACACACCCGCACACATCCATCCAGTCCACACCATA ACACACACACCCGCACACATCCATACAGTCCACACCATAACACACACACA CCCGCACACATCCATACAGTCCATACCATCACACACACCCACACACATCC ATACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCAC ACCATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACA CACACCCGCACACATCCATACAGTCCACACCGTCTCACACACACACCCGC ACACATCCATACAGTCCACACCATAACACACACACCTGCACACATCCATA CAGTCCACACCATCACACACACATCCATACAATCCACACCGTCACACACA TCCATACAGTCCACACCATCACACACATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(75): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 NA18942.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA19007.hp2 NA19059.hp1 NA19060.hp2 NA19079.hp1 NA19084.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0010 a0001c0002t0018 a0001c0009t0001 a0001c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0265 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0010g0140 a0001c0001t0013g0052 a0001c0001t0014g0135 a0001c0001t0016g0023 a0001c0002t0001g0044 a0001c0002t0001g0078 a0001c0002t0010g0105 a0001c0002t0018g0138 a0001c0009t0001g0010 a0001c0009t0001g0072 a0001c0009t0001g0073 a0001c0009t0001g0074 a0001c0016t0001g0125	78	334	0.2335	528	c.114 others(547): Show c.1143-1413_1143-1412insCCCGCACACATCCATACAGTCCATAC CATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACACA CACCCGCACACATCCATACAGTCCACACCATAACACACACACCCGCACAC ATCCATCCAGTCCACACCATAACACACACACCCGCACACATCCATACAGT CCACACCATAACACACACACACCCGCACACATCCATACAGTCCATACCAT CACACACACCCACACACATCCATACAGTCCACACCATAACACACACACCC GCACACATCCATACAGTCCACACCATAACACACACACCCGCACACATCCA TACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCACA CCGTCTCACACACACACCCGCACACATCCATACAGTCCACACCATAACAC ACACACCTGCACACATCCATACAGTCCACACCATCACACACACATCCATA CAATCCACACCGTCACACACATCCATACAGTCCACACCATCACACACATC CA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10	INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(521): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTG CCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0250 a0002c0001t0001g0250	1	408	0.0025	528	c.-10 others(545): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTG GCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGG CTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGG GGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCT AGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCC TGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		chr16	TogoVar
PITPNM1_chr11_67486768_67510363	67499572	T T	TCCATCCA others(521): Show TCCATCCATCCATCCACCTACCCACCCGCCCACCCATCCATCCATCCACC CATTCATCCATCTACCCACCCACCCACCCACCCACCCATCCATCCACCCA CCCAACCATTCATCCATCCATCCATCTACCCACCCACCCAACCATCCATC CATCCATCCATCCACCTACCCACCCACCCACCCATCCATCCATCCATCCA ACCATTCATCCATCCATCCATCTAGCCACCCAACCACCCAACCATCAACC CACCCACCCACCCACCCATCCATCCGCCCACCCACCCAACCATTCATCCA TCCATCCATCCATCTACCCACCCACCCACCCACCCATCCACCCACCCATC CAACCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCACCTACCCACCCACCCACCCACCCATCTATCCATCCAAC CATCCATCCATCCATCCATCTAGCCACCCATCCATCTACCCACCCACCCA CCCACCTACCCACCCATCCATCCATCCAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG03041.hp2 others(1): Show HG02559.hp2 HG02886.hp2 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0048 a0001c0002t0001g0015 a0001c0002t0001g0048	4	300	0.0133	528	c.117 others(545): Show c.1171+150_1171+151insTTGGATGGATGGATGGGTGGGTAGGTGG GTGGGTGGGTGGGTAGATGGATGGGTGGCTAGATGGATGGATGGATGGAT GGTTGGATGGATAGATGGGTGGGTGGGTGGGTGGGTAGGTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGTT GGATGGGTGGGTGGATGGGTGGGTGGGTGGGTGGGTAGATGGATGGATGG ATGGATGAATGGTTGGGTGGGTGGGCGGATGGATGGGTGGGTGGGTGGGT GGGTTGATGGTTGGGTGGTTGGGTGGCTAGATGGATGGATGGATGAATGG TTGGATGGATGGATGGATGGGTGGGTGGGTGGGTAGGTGGATGGATGGAT GGATGGATGGTTGGGTGGGTGGGTAGATGGATGGATGGATGAATGGTTGG GTGGGTGGATGGATGGGTGGGTGGGTGGGTGGGTGGGTAGATGGATGAAT GGGTGGATGGATGGATGGGTGGGCGGGTGGGTAGGTGGATGGATGGATGG	PITPNM1	ENSG00000110697.13	transcript	ENST00000356404.8	protein_coding	8/23		chr11	TogoVar
PLEKHG4B_chr5_87168_194966	101377	T T	TAATCCAT others(521): Show TAATCCATATAAAACCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGAAAGACTGT TGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGAC TGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGAAAG ACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGG GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAGAAAGTC TGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAA GCCTGTAGGGGAGAGACTGTTGTGAGGTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0038 a0038	a0038c0080 a0038c0080	a0038c0080t0043 a0038c0080t0043	a0038c0080t0043g0177 a0038c0080t0043g0177	1	210	0.0048	528	c.45+ others(543): Show c.45+9113_45+9114insACCCTGGAAAAAGCCTGTAGGGGAGAGACT GTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAG ACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGAA AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTA GGGAAAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAA AGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGA GAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCT GGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19	INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R14C_chr6_150138044_150255392	150197907	C C	CCCTGGCC others(521): Show CCCTGGCCACCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCC CTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCGCCT GGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGG GCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCC GCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGCCCGT CACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCA CGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACG GTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGT GGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCGCCTGGCCGCCACGGTGG AGGAGGGCCTGGATGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAG GAGGGCCTGGATGCCCGGCTTTGTGTGCG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0228	1	312	0.0032	528	c.307 others(547): Show c.307-16833_307-16832insGCCACCACGGTGGAGGAGGGCCTGGA TGCCCGGCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATG CCCGGCTTTGTGTGCGCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCC CGGCTTTGTGTGCCCCTGGGCGCCACGGTGGAGGAGGGCCTGGATGCCCG GCTTTGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGC TTTGTGTGCCCCTGCCCGTCACGGTGGAGGAGGGCCTGGATGCCCGGCTT TGTGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTG TGTGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTG TGCCCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTG CGCCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCC CCTGGCCGCCACGGTGGAGGAGGGCCTGGATGCCCGGCTTTGTGTGCGCC TG	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKN_chr6_161342417_162732766	162339350	G G	GCCCCCGC others(521): Show GCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCGGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCGGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCG CCGTCTGGGAGGGAGGTGGGGGGGTCAGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0014 a0001c0008t0010g0014	1	32	0.0313	528	c.172 others(547): Show c.172-76586_172-76585insGCTGACCCCCCCACCTCCCTCCCAGA CGGCGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCCGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCCGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCC GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11		chr6	TogoVar
PTPRD_chr9_8309246_10618002	10163173	T T	TTAAAAAA others(521): Show TTAAAAAATGATTTTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCT TGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTAC AAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGT ATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGT TGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGT GCATGTGTCTTTATAGCAGCATGATTTATACTCACTCTGGGGACTGTGGT GGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTA GATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATAT GTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAAT AAAAAAAAAAAAAATAAAAAAATAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02683.hp2 NA21309.hp2 HG01981.hp1 HG02683.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0008 a0001c0001 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0006t0026 a0003c0008t0008 a0001c0001t0001 a0001c0006t0026 a0003c0008t0008	a0001c0001t0001g0004 a0001c0006t0026g0034 a0003c0008t0008g0003 a0001c0001t0001g0004 a0001c0006t0026g0034 a0003c0008t0008g0003	3	34	0.0882	528	c.-54 others(551): Show c.-544-129384_-544-129383insTTTTTTATTTTTTTATTTTTTT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGAGTATAAATCATGCTGCTATAAAGA CACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTT GGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGG CACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCAT ATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAAC TATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGG AATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCAAAATCAT TTTTTA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45		chr9	TogoVar
RAB20_chr13_110518066_110566722	110530184	A A	ACAGACAC others(521): Show ACAGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGC AGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAG ACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGAC ACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACAC AGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAG GGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGG CCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCC CCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCC GGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGG GGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGG AGGCAGGTCCCACCCGCCCCACCTCTACG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp2 HG02622.hp1 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0020 a0001c0003t0010g0020	2	426	0.0047	528	c.173 others(545): Show c.173-5988_173-5987insCGTAGAGGTGGGGCGGGTGGGACCTGCC TCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTC CCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCC CGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCG GGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGG GCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGC CCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCC TGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTG TGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTG TCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTC TGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1		chr13	TogoVar
RAB20_chr13_110518066_110566722	110530184	A A	ACAGACAC others(521): Show ACAGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGC AGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAG ACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGAC ACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACAC AGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAG GGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGG CCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCC CCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCC GGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCTAG GGAAGTAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGG AGGCAGGTCCCACCCGCCCCACCTCTACG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0342 a0001c0003t0001g0342	1	426	0.0024	528	c.173 others(545): Show c.173-5988_173-5987insCGTAGAGGTGGGGCGGGTGGGACCTGCC TCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTACTTC CCTAGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCC CGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCG GGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGG GCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGC CCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCC TGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTG TGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTG TCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTC TGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1		chr13	TogoVar
RASA3_chr13_113972783_114137623	114073517	A A	AGGAAAAT others(521): Show AGGAAAATGGGACGGTGACGTACACGCTCGGGACATTGTCTACGCACAGA AAAATTCCCTACACGCGGGAAAACGGGACGGTGACGTACACGCTCGGGAC ATTGTCTACGCACAGAAAAATTCCCTACATGCGGGAAAACGGGATGGTGA CGTACACGCTCGGGACATTGTCTACGCACAGAAAAATTCCCTACACGCGG GAAAACGGGACGGTGACGTACACGCTCGGGACATTGTCTACGCACAGAAA AATTCCCTACACATGGGAAAATGGGACGGTGATGTACATGCTTGGGACAC TGTCTACACACAGAAAAATTCCCTACACGCGGGAAAATGGGACGGTGACG TACACGCTCGGGACATTGTCTACGCACAGAAAAATTCCCTACACATGGGA AAATGGGACGGTGATGTACATGCTTGGGACACTGTCTACACACAGAAAAA TTCCCTACACGCAGGAAAATGGGACGGTGACGTACACGCTCGGGACATTG TCTACGCACAGAAAAATTCCCTACACGCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp2 HG00639.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	67	0.0299	528	c.173 others(543): Show c.173+202_173+203insCGCGTGTAGGGAATTTTTCTGTGCGTAGAC AATGTCCCGAGCGTGTACGTCACCGTCCCATTTTCCTGCGTGTAGGGAAT TTTTCTGTGTGTAGACAGTGTCCCAAGCATGTACATCACCGTCCCATTTT CCCATGTGTAGGGAATTTTTCTGTGCGTAGACAATGTCCCGAGCGTGTAC GTCACCGTCCCATTTTCCCGCGTGTAGGGAATTTTTCTGTGTGTAGACAG TGTCCCAAGCATGTACATCACCGTCCCATTTTCCCATGTGTAGGGAATTT TTCTGTGCGTAGACAATGTCCCGAGCGTGTACGTCACCGTCCCGTTTTCC CGCGTGTAGGGAATTTTTCTGTGCGTAGACAATGTCCCGAGCGTGTACGT CACCATCCCGTTTTCCCGCATGTAGGGAATTTTTCTGTGCGTAGACAATG TCCCGAGCGTGTACGTCACCGTCCCGTTTTCCCGCGTGTAGGGAATTTTT CTGTGCGTAGACAATGTCCCGAGCGTGTACGTCACCGTCCCATTTTCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23		chr13	TogoVar
RNF213_chr17_80255852_80403794	80274650	G G	GTGGGGTG others(521): Show GTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGA ATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGGGGGTGAGTGGGGTG AGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGG GGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTG GGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGT GGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGG GTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGTGAGTG GGGTGAGTGTGGGGGGTGAGTGGGGTGTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp2 NA20129.hp1 HG02717.hp1 HG03225.hp2 NA20129.hp1	a0008 a0070 a0091 a0008 a0070 a0091	a0008c0028 a0070c0066 a0091c0113 a0008c0028 a0070c0066 a0091c0113	a0008c0028t0018 a0070c0066t0040 a0091c0113t0021 a0008c0028t0018 a0070c0066t0040 a0091c0113t0021	a0008c0028t0018g0028 a0070c0066t0040g0030 a0091c0113t0021g0031 a0008c0028t0018g0028 a0070c0066t0040g0030 a0091c0113t0021g0031	3	292	0.0103	528	c.261 others(545): Show c.261+1248_261+1249insGGGTGAGTGGGGTGAGTGGGGGGTGAGT GGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTG AGTGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGG TGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGG GGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTG GGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTG AGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67	INFO_REALIGN_3_PRIME	chr17	TogoVar
SCAMP1_chr5_78355617_78485739	78430222	T T	TTATTTAT others(521): Show TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	332	0.0030	528	c.632 others(545): Show c.632+8275_632+8276insTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACAATATTTATAAATAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8	INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1288356	T T	TCTGCTCC others(521): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCTGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	290	0.0035	528	c.166 others(545): Show c.1662+336_1662+337insTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCTGTGTCTCTGCTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288569	C C	CCGTGTCT others(521): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	290	0.0035	528	c.166 others(545): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17	INFO_REALIGN_3_PRIME	chr1	TogoVar
SHANK1_chr19_50654255_50724802	50678976	G G	GATGGGGA others(521): Show GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGG TCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG GTGTGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGG TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGG GTCAAGATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGG GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAGGGTGTGGGGAGGGGTCAAGATGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19240.hp1 HG01891.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0004 a0001c0018t0003 a0001c0003t0004 a0001c0018t0003	a0001c0003t0004g0073 a0001c0018t0003g0126 a0001c0003t0004g0073 a0001c0018t0003g0126	2	316	0.0063	528	c.257 others(547): Show c.2578-6863_2578-6862insTCATCTTGACCCCTCCCCACACCCTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTT GACCCCTCCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC TGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCT TGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCC AT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23		chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(521): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATACAATAGAATAGAA TACAATAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0055 a0002c0005t0002g0055	1	256	0.0039	528	c.165 others(545): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATACAATAGAATAGAATACAATAGAATAGAATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9	INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 10000 hits)