Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NOC4L_chr12_132139457_132157468	132149710	C C	CACCACAC others(653): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCT AATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	294	0.0034	660	c.901 others(675): Show c.901+844_901+845insCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA TACCACACCCCTAATCCCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150672	A A	ACACCACA others(653): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCACCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCACCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	294	0.0034	660	c.902 others(675): Show c.902-309_902-308insCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCACCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCCACCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NR3C2_chr4_148073764_148447414	148366424	G G	GAAAAAGA others(653): Show GAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAAT ACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTT AAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAA AAGTACTTTTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0002 a0001c0003t0002 a0002c0002t0002	a0001c0003t0002g0005 a0002c0002t0002g0025 a0001c0003t0002g0005 a0002c0002t0002g0025	2	170	0.0118	660	c.175 others(681): Show c.1757+68679_1757+68680insTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTT AAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAA AGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATT CTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(653): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA20300.hp2 HG01358.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0020 a0001c0001t0007g0151 a0001c0001t0002g0020 a0001c0001t0007g0151	2	170	0.0118	660	c.175 others(681): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NTM_chr11_131365615_132341822	131680400	C C	CGTCTGTG others(653): Show CGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTG TGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAGGCATG TGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTAAG TGCCTGTGTGTGTGTCTGTGTAGGCATGCATGCCTCTGTGTCTGTGTGTG AGATCATGCCCGTGTCTGTGTCTGTGAGTGCCTCTGTGTGTGTGTGTGGG TCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTG TCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCGCTTCTGTGTAGGCATGTG TGCCTCTGTGTCTGTGTGTGAGATCGTGTCTGTGTCTGTGAGTGCCTGTG TGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAG ATCGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAGG CATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTTTCTG TGAGTGCCTGTGTGTGTGTGTGTGTGTGTGTCTGTGTAGGCATGTGTGCC TCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTG TGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG03516.hp1 HG00642.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0013 a0001c0001t0004g0043 a0001c0001t0008g0070 a0001c0001t0001g0013 a0001c0001t0004g0043 a0001c0001t0008g0070	3	86	0.0349	660	c.83- others(679): Show c.83-231120_83-231119insGCCTGTGTCTGTGTCTGTGAGTGCCT GTGTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGT GAGATCATGCCTGTGTCTGTGTCTGTAAGTGCCTGTGTGTGTGTCTGTGT AGGCATGCATGCCTCTGTGTCTGTGTGTGAGATCATGCCCGTGTCTGTGT CTGTGAGTGCCTCTGTGTGTGTGTGTGGGTCTGTGTAGGCATGTGTGCCT CTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGT GTGTGTGTGCGCTTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGA GATCGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGCGTCTGTGTAG GCATGTGTGCCTCTGTGTCTGTGTGTGAGATCGTGTCTGTGTCTGTGAGT GCCTGTGTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGT GTGTGAGATCATGCCTGTGTCTGTTTCTGTGAGTGCCTGTGTGTGTGTGT GTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATC ATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGTGTCTGTGTAG GCATGTGTGCCTCTGTGTCTGTGTGTGAGATCAT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(653): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	439	0.0023	660	c.-16 others(671): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(653): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATACTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18976.hp2 NA18983.hp1 NA18984.hp2 NA18976.hp2 NA18983.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	3	439	0.0068	660	c.-16 others(671): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(653): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAG GAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAGACGGGAGG AGGAGAGGAAAGGGGGGAAGACGGGAGAAGGAGAGGAAAGAGGGGGAAGA CGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAA GAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGG AGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGA CGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAA GAGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGG AGAGAAAAGAGGGGGAAGATGGGAGGGGGAGGAGAGGAAAGAGGGGGAAG ACGGGAAGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAA AGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGGA GAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0007 a0001c0002t0009g0007	1	326	0.0031	660	c.162 others(679): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTC CTCTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCC CTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTC CCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTC CTCTCCTTCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCGTCTTCCCC CCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCC CGTCTTCCCCCTCTTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCCTCTC CTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCCCT CCTTCCTCTCCTCCCCTTCCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PAK2_chr3_196734857_196837647	196811197	T T	TCCTCCCT others(653): Show TCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCC TTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCCTCCCT CCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTT CCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCC CTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0174 a0001c0001t0028g0174	1	178	0.0056	660	c.773 others(675): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TCCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTC CCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTCCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811232	T T	TCCCTCCC others(653): Show TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCTTTC CTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCC TTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCCTCCCT CCCTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCC CTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0062	1	178	0.0056	660	c.773 others(675): Show c.773+583_773+584insCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT CCCTTCCCTCCTTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTA CCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCT CCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTCCCCTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCC TCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCT CCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCBP3_chr21_45638725_45947450	45923820	C C	CGAGGAGA others(653): Show CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	292	0.0034	660	c.718 others(677): Show c.718-6088_718-6087insTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG CGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45923820	C C	CGAGGAGA others(653): Show CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0291 a0001c0003t0014g0291	1	292	0.0034	660	c.718 others(677): Show c.718-6088_718-6087insTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45923820	C C	CGAGGAGA others(653): Show CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGG GTAGAAACAGCACACATAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACATAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0003 a0001c0001t0015g0003	1	292	0.0034	660	c.718 others(677): Show c.718-6088_718-6087insTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGGTAGAAACAGCACACATAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGATAGAAACAGCACACATAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG CGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45923986	A A	ATAGAAAC others(653): Show ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAA ACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	292	0.0034	660	c.718 others(677): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(653): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0011 a0001c0001t0002g0012	2	292	0.0069	660	c.718 others(677): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATG CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924084	C C	CGAGGAGA others(653): Show CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACT GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	292	0.0034	660	c.718 others(677): Show c.718-5824_718-5823insCGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT TGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATG CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924118	G G	GTAGAAAC others(653): Show GTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCAAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0291 a0001c0003t0014g0291	1	292	0.0034	660	c.718 others(677): Show c.718-5780_718-5779insATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCAAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924167	T T	TGGGAACA others(653): Show TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGT AAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCG GGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCAGGTGTGCGTGA GGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGG AACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGG AGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGA AACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAA CAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGTGAACACC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	292	0.0034	660	c.718 others(677): Show c.718-5734_718-5733insATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCAGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGCGTGG	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(653): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCG TGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGCGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCACGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTG GGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	292	0.0034	660	c.718 others(677): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACTGGGAACAGTCGCGTGG	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(653): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCG GGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	292	0.0034	660	c.718 others(677): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGCGTGG	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(653): Show AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAG TGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTG GATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCG GGAACAGTCGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	292	0.0034	660	c.718 others(677): Show c.718-5536_718-5535insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGCGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924414	C C	CGAGGAGA others(653): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGG ATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	292	0.0034	660	c.718 others(677): Show c.718-5494_718-5493insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAAC AGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924480	T T	TGAGGAGA others(653): Show TGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACC AGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	292	0.0034	660	c.718 others(677): Show c.718-5404_718-5403insGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCAGGAACAGTCGA GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924497	C C	CGGGAACA others(653): Show CGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGT GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTG GGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAA CAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGCGAACACT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp1 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0011 a0001c0001t0002g0012	2	292	0.0069	660	c.718 others(677): Show c.718-5409_718-5408insCGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCATGAGGAGATGTGAACACCGGGAACA GTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGG GTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACA GCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGAGGAGATGT GAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGCGAACACTGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924563	C C	CGGGAACA others(653): Show CGGGAACAGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATTGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGA GGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAGG AGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGA AACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGAA CAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGTGAACACT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	292	0.0034	660	c.718 others(677): Show c.718-5344_718-5343insACGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAAC AGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAG TCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCG AACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTG TGCACGAGGAGATGTGAACACTGGGAACAGTC	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(653): Show TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAG CACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTG AACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACA CTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18969.hp1 NA19066.hp2 HG00438.hp1 NA18969.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0235 a0001c0001t0002g0265 a0001c0001t0002g0223 a0001c0001t0002g0235 a0001c0001t0002g0265	3	292	0.0103	660	c.718 others(677): Show c.718-5157_718-5156insTGGGAACAGTCGCATGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCAC ACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC ACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCGTGAGGAGATGCGAACAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924761	C C	CGGGAACA others(653): Show CGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCATGA GGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAA CAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAG ATGCGAACACT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	292	0.0034	660	c.718 others(677): Show c.718-5150_718-5149insAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCATGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCG GGTGTGCGTGAGGAGATGCGAACACTGGGAAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924876	C C	CGAGGAGA others(653): Show CGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACG TAAGGTCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCAG GAACAGTCGCGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCGTGAG GAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCAAACACTGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	292	0.0034	660	c.718 others(677): Show c.718-5032_718-5031insCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAA ACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAAC AGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGA TGCGAACACCAGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGGTCG GGTGTGCGTGAGGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG TGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGG TGTGCGTGAGGAGATGCAAACACTGGGAACAGTCGCGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924959	C C	CGGGAACA others(653): Show CGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGA TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAA GATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTA GAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGG AACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACTGGGAA CAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAG ATGTGAACACT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0222 a0001c0003t0020g0222	1	292	0.0034	660	c.718 others(677): Show c.718-4947_718-4946insCGTGGATAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAA CAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACA GTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACA GCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGT CGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGT GAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCG AGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACTGGGAACAGTCG	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(653): Show TGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGGT CGGGTGTGCAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0020 a0001c0002t0004g0021	2	292	0.0069	660	c.718 others(677): Show c.718-4760_718-4759insGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGCAAACACTGGGAACAGTCGAGTGGATAGAAACAGCACACGTA AGGTCGGGTGTGCACGAGGAGATGCGAACACC	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(653): Show CGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGG TGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTC GAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCG AACACCGGGAACAGTCGAGTGGATAGAAACAGCACACGTAAGATCGGGTG TGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCA CACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGC GTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAA CACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACA CGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGT GGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACA CCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCA CGAGGAGATGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	292	0.0034	660	c.718 others(677): Show c.718-4760_718-4759insGGGAACAGTCGAGTGGGTAGAAACAGCA CACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGA GTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAA CACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTG CACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGATAGAAACAGCACA CGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGCGT GGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACA CCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCG TGAGGAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACG AGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(653): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	250	0.0040	660	c.309 others(679): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP2R3B_chrX_328933_391907	364824	A A	AGTGAGCT others(653): Show AGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGA CTCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCC TGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCG GGAGGCGGAGGGTGCGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTG GGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGT GTGGTGGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAG AATCGCTTCAACACAGGAGGCGGAGGGTGCGGTGAGCTGAGATCGCACCA CTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACA AACGATTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGAG AGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGCGGAGGGTGCGGTGA GCTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTG TCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTAA TCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGG CGGAGGGTGCG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0007 a0002c0008t0002g0007	1	25	0.0400	660	c.325 others(677): Show c.325-3235_325-3234insCGCACCCTCCGCCTCCCGGGTTTAAGCG ATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGCGCCAC CACACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTC ACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCGCACCCTCCGCC TCCCGGGTTTAAGCGATTCTCCTGCCTCAGCCTCTCGAGTAGCTGGGATT ACAGGCATGCGCCACCACACCTGGTTAATCGTTTGTTTTGTTTTGAGACA GAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTC ACCGCACCCTCCGCCTCCTGTGTTGAAGCGATTCTCCTGCCTCAGCCTCT CAAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGTTAATCGTTTG TTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTG GTGCGATCTCAGCTCACCGCACCCTCCGCCTCCCGGGTTTAAGCGATTCT CCTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGCGCCACCACAC CTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCA GGCTGGAGTGCAGTGGTGCGATCTCAGCTCAC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	365435	C C	CGAGAGGC others(653): Show CGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCGGGAGGCGGAGGGTGCG GTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGAC TCTGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCT GTACTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTAAACCCGG GAGGCGGAGGGTGCGGTGAGCTGAGGTCGCACTACTGCACTCCAGCCTGG GCGACAGAGTGAGACTCTGTCTCAAAACAAAACAAACGATTAACCAGGTG TGGTGGCGCATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGA ATCGCTTCAACACAGGAGGCGGAGGGTGCGGTGAGCTGAGATCGCACTAC TGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAAAACAA ACGATTAACCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGTTGCAGTGAG CTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGT CTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGCGCATGCCTGTAAT CCCAGCTACTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0009 a0002c0004t0002g0009	1	25	0.0400	660	c.325 others(677): Show c.325-3846_325-3845insAAGTAGCTGGGATTACAGGCATGCGCCA CCACACCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGT CGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCGC CTCCTGTGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCACACCTGGTTAATCGTTTGTTTTGTTTTGAGAC AGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCT CACCGCACCCTCCGCCTCCTGTGTTGAAGCGATTCTCCTGCCTCAGCCTC TCAAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGTTAATCGTTT GTTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGT AGTGCGACCTCAGCTCACCGCACCCTCCGCCTCCCGGGTTTAAGCGATTC TCCTGCCTCAGCCTCTCGAGTAGCTGGGAGTACAGGCATGCGCCACCACA CCTGGTTAATCGTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCGCCC AGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCGCACCCTCCGCCTCCC GGGTTTAAGCGATTCTCCTGCCTCAGCCTCTC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PRDM16_chr1_3064203_3443621	3181086	G G	GGTCTTAC others(653): Show GGTCTTACACACGCAGTCTTACACACGGTCTTACACACAGTCTTACACAC GCAGTCTTACACACGGCCTTACGCATGGTCTTACACACGCAGTCTTACAC ACGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACAC ACGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTT ACACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTAC ACACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACACGCGGTC TTACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTAC GCATGGTCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTC TTACACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTT ACACACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTT ACACATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTAC ACGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTC TTACACACGCA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	210	0.0048	660	c.38- others(675): Show c.38-5038_38-5037insTCTTACACACGCAGTCTTACACACGGTCTT ACACACAGTCTTACACACGCAGTCTTACACACGGCCTTACGCATGGTCTT ACACACGCAGTCTTACACACGGCCTTACGCATGGTCTTACACACGCAGTC TTACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGG TCTTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTC TTACACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGC AGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAG TCTTACACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGC GGTCTTACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAG TCTTACACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGC AGTCTTACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACAC GGTCTTACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGG TCTTACACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACAC GGAGTCTTACACACAGTCTTACACACGCAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124202	G G	GTCATGGT others(653): Show GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCA TGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGCGTCATGGTGGTGGTTAGGGTCAAGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTA GGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTA GTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	286	0.0035	660	c.335 others(679): Show c.335-11057_335-11056insTGGTGGTAGTTAGGGTCGTGGTGGTT AGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTA GGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGCGTCATGGT GGTGGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGT TAGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392570	A A	ATGGTGAT others(653): Show ATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGT GGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGAT GGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGG TGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTG ATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTG GTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGAT AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGG TGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTG GTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGG TGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG03540.hp2 HG01884.hp2 HG02451.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0002c0002t0001g0171 a0001c0001t0001g0044 a0001c0001t0001g0045 a0002c0002t0001g0171	3	374	0.0080	660	c.-46 others(671): Show c.-4657_-4656insTGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGAT AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGG TGATGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTG ATAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTA GTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGA TGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGG TGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTG ATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGA TGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGATGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4629		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	467526	G G	GTCAGGGA others(653): Show GTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGG GCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGG AGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAG GTGCTGGGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0052 a0001c0013t0052	a0001c0013t0052g0069 a0001c0013t0052g0069	1	295	0.0034	660	c.809 others(677): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467526	G G	GTCAGGGA others(653): Show GTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGG GCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGG AGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAG GTGCTGGGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	295	0.0034	660	c.809 others(677): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467548	C C	CTCAGGGA others(653): Show CTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTG GGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGA GGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0269 a0001c0002t0009g0269	1	295	0.0034	660	c.809 others(677): Show c.809-3728_809-3727insGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGG GAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(653): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGATCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0233 a0007c0014t0001g0233	1	412	0.0024	660	c.205 others(675): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGATCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(653): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	412	0.0024	660	c.205 others(675): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(653): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	276	0.0036	660	c.132 others(677): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RIMBP2_chr12_130391133_130721299	130646046	T T	TCCACCTC others(653): Show TCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCTC CACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCCCTCACCA CCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACC TCCCTCACCACCTCCCTCACCACTTCCCTCACCACCTCCCTCACCACCTC CCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCC TCACCACTTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTC ACCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCTC CACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCCCTCACCA CCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACT TCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTC CCTCACCACTTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCC TCACCACCTCCCTCACCACCTCCCTCACCACTTCCCTCTCCACCTCCCTC ACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACTTCCCTCTC CACCTCCCTCA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	180	0.0056	660	c.-35 others(681): Show c.-351-17591_-351-17590insTGAGGGAGGTGGAGAGGGAAGTGG TGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAG AGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAG GGAGGTGGAGAGGGAGGTGGTGAGGGAAGTGGTGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAG GTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGT GGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGG AGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGAG AGGCAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAG GGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGCAG GTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGT GGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGG AGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(653): Show AGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGAC AGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGG CGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGA CAGGGCGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	133	0.0075	660	c.351 others(679): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCG CCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SBNO2_chr19_1102638_1179268	1142161	A A	ACTCAATG others(653): Show ACTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTC ACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGATCAACCCTCACT CAATGACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCCC AAGATCAACCCTCCCCTCAATGGCCTCCTTCCCCATGATCAACCCTCACT CAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGACCTCCTTCCC CAAGATCAACCCTCCCTCAATGACCTCCCTCACGATCAACCCTCCCCTCA ATGGCCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAA GATCAACCCTCCCCTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCA ATGACCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGA TCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAAT GACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCCCACGA TCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAAT GACCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGA TCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG02922.hp1 others(1): Show HG02257.hp1 HG02809.hp2 HG02922.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0035 a0001c0004 a0001c0010 a0001c0035	a0001c0004t0001 a0001c0010t0001 a0001c0035t0001 a0001c0004t0001 a0001c0010t0001 a0001c0035t0001	a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0010t0001g0003 others(1): Show a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0010t0001g0003 a0001c0035t0001g0158	4	203	0.0197	660	c.279 others(677): Show c.279+5147_279+5148insGGGAGGGTTGATCTTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCATGGGGAGGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATGGGGAGGGAGGCC ATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGTTGATCA TGAGGAGGGAGGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCAT TGAGTGAGGGTTGATCATGGGGAGGGAGGCCATTGAGGGGAGGGTTGATC GTGAGGGAGGTCATTGAGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGA GGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATG GGGAAGGAGGCCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCATTG AGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATG GGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGG GAGGGTTGATCATGAGGAGGGAGGTCATTGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCGB1C2_chr17_132569_144067	141114	T T	TGAGGGGA others(653): Show TGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAAC ATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGAC CTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAG GGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTG AGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTG GTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGAC CTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGACCTTGGTGAGGG GACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTG AGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGG TGAGGGGACCTGGTGAGGGGAACATGGGGGGGACCTTGGTGAGGAGGACC TGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGG AACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGA GGGGACATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	402	0.0025	660	c.21 others(671): Show c.2172_*2173insGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGA CCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGA GGACCTGGGGGGGACCTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGA GGAGGACCTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACATG GGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTT GGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGG GAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGG GGACCTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGG TGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACA TGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGGGGGACC TTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGA GGACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGT GAGGGGACCTGGTGAGGGGACATGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2048		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289451	T T	TCCCCCGT others(653): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	290	0.0035	660	c.166 others(677): Show c.1663-817_1663-816insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(653): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTC CTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTC ATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATT CTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTA TCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCC CCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCC CACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAA GCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCAT AGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATA GCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCACAAGCACT GCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp2 HG06807.hp2 HG00642.hp1 HG01261.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0045 a0003c0001 a0001c0003 a0001c0045 a0003c0001	a0001c0003t0003 a0001c0045t0003 a0003c0001t0001 a0001c0003t0003 a0001c0045t0003 a0003c0001t0001	a0001c0003t0003g0037 a0001c0045t0003g0060 a0003c0001t0001g0059 a0001c0003t0003g0037 a0001c0045t0003g0060 a0003c0001t0001g0059	3	280	0.0107	660	c.89- others(673): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAG AGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGT AGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGG GGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGG TTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTT GGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAG CAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCT ATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTT GTGGGGGGATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(653): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATTCC ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATTCCATATATATATATTCCATATATATATATTCCATATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATT CCATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	324	0.0031	660	c.115 others(677): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATGGAATATATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar

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Search Results (Total: 10000 hits)