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
EHMT1_chr9_137614005_137841127	137716173	T T	TGGGGGGG others(504): Show TGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	170	0.0059	511	c.86- others(524): Show c.86-448_86-447insGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGGG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(504): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAG GAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0088 a0003c0004t0001g0088	1	384	0.0026	511	c.215 others(528): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGA ATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(504): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGATGCTGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAG GAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	384	0.0026	511	c.215 others(528): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG AATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCT CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGT CAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGA ATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378307	G G	GGCGCGAG others(504): Show GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGG CGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAG GAAGGAGAAGGC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	384	0.0026	511	c.215 others(528): Show c.2155-379_2155-378insCGAGCTCTCCTGGGAATCCGTGTTCTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGG ATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCG CGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGA GGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACC CTGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTG TTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCT CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGA ATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(504): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGA GATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCC CTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTT CATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCC CACCCCGAGACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 NA19240.hp1 HG01891.hp2 HG02257.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0293 a0001c0001t0001g0037 a0001c0001t0001g0293	3	370	0.0081	511	c.134 others(528): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAG ATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCC TACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTC ATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCC ACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCC TCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGG TGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTG CCCCCTACACCACCTTCCCCACCCCGAGACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TATATTTT others(504): Show TATATTTTATTTTATTTTATTTTTGTTTATTTTATTTTTGTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0136 a0012c0018t0001g0136	1	394	0.0025	511	c.41- others(526): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATACAAAAATA AAATAAACAAAAATAAAATAAAATAAAATAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33323542	A A	ATATATGG others(504): Show ATATATGGAATATATATATGGAATATATATATATGGAATATATATATGGA ATATATATATGGAATATATATGTGGAATATATATATGGAATATATATGTG GAATATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGG AATATATATGTGGAATATATATATATGGAATATATATGTGGAATATATAT ATGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATAT ATATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTG GAATATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGG AATATATATGTGGAATATATATATATGGAATATATGTGGAATATATATAT ATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0103 a0001c0001t0010g0103	1	323	0.0031	511	c.-15 others(522): Show c.-1514_-1513insTATATGGAATATATATATGGAATATATATATATG GAATATATATATGGAATATATATATGGAATATATATGTGGAATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT ATGTGGAATATATATATGGAATATATATGTGGAATATATATATATGGAAT ATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATATGTGGAATATATATATATGGAATATAT GTGGAATATATATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1427		chr21	TogoVar
JAM3_chr11_134064072_134157001	134137749	G G	GTGGTGCT others(504): Show GTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCC AGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTT ATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGG TGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTG GTGGCGTCTCGTCGAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGG CCAATAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCT CATACTGAGAGGAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGG TGTCTCGTCTAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAG TAGTCCCTTAGAGCCAGTGGTGGCGTCTCCTCGAAGTCGTGGTGCTCATA CTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGTGTC TCGTCTAAGTCA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	390	0.0026	511	c.77- others(526): Show c.77-1963_77-1962insGAAGTCGTGGTGCTCATACTGAGAGAAATG TTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCG TGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCA GTGGTGGTGTCTCGTCTAAGTCATGGTGCTCATACTGAGAGGAATGTTTA TGGCCAGTAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCGTGGT GCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGG TGGCGTCTCCTCGAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGC CAATAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCTC ATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGC GTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGT AGTCCCTTAGAGCCAGTGGTGGCGTCTCGTC	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134137749	G G	GTGGTGCT others(504): Show GTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCC AGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTT ATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGG TGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTG GTGGCGTCTCGTCGAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGG CCAATAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCT CATACTGAGAGGAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGG TGTCTCGTCTAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAG TAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCATA CTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGTGTC TCGTCTAAGTCA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	390	0.0026	511	c.77- others(526): Show c.77-1963_77-1962insGAAGTCGTGGTGCTCATACTGAGAGAAATG TTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCG TGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCA GTGGTGGTGTCTCGTCTAAGTCATGGTGCTCATACTGAGAGGAATGTTTA TGGCCAGTAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCGTGGT GCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGG TGGCGTCTCGTCGAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGC CAATAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCTC ATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGC GTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGT AGTCCCTTAGAGCCAGTGGTGGCGTCTCGTC	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JAM3_chr11_134064072_134157001	134138294	A A	ATAGTCCC others(504): Show ATAGTCCCTTAGAGCCAGTGGTGGTGTCTCGTCTAAGTCATGGTGCTCAT ACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGT CTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAG TCCCTTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTG AGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCG TCGAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCC TTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAG AAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCTA AGTCATGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAG AGCCAGTGGTGGCGTCTCGTCTAAGTCGTGGTGCTCATACTGAGAGAAAT GTTTATGGCCAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	390	0.0026	511	c.77- others(526): Show c.77-1534_77-1533insTGTCTCGTCTAAGTCATGGTGCTCATACTG AGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCG TCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCC TTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAG AAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGA AGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAG AGCCAGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAAT GTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCTAAGTC ATGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCC AGTGGTGGCGTCTCGTCTAAGTCGTGGTGCTCATACTGAGAGAAATGTTT ATGGCCAGTAGTCCCTTAGAGCCAGTGGTGG	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(504): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCC ACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTG CCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	312	0.0032	511	c.-41 others(526): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCC CACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCC CCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCT GCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997333	T T	TAGGGTCG others(504): Show TAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATA GGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGG AATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAA TCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	375	0.0027	511	c.-21 others(522): Show c.-2136_-2135insAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAG ATGGGGTCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		337		chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(504): Show AGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCG CTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAAC GGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGA ACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGG AACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAAC GGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCG CTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0127 a0001c0001t0011g0127	1	375	0.0027	511	c.317 others(528): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCG CTGCGGGGTGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCG CTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LMF1_chr16_848634_975984	857822	A A	AGTGGTGT others(504): Show AGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGT GTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0195 a0001c0003t0001g0195	1	294	0.0034	511	c.153 others(530): Show c.1530-3117_1530-3116insGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGTGACACCACGCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGAC ACCACGCACACCCGTCCCGAGACACCACTCACACCCATCCCGAGACACCA CTGCACACCCATCCCGAGACACCACTGCACACCCGTCCCGTGACACCACG CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACGCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCC CGAGACACCACTGCACACCCGTCCCGTGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAAGC others(504): Show AAAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAA CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCG CAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGA ATTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCC ATCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGG CGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCAC TCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02148.hp1 HG02148.hp2 HG00140.hp1 HG02148.hp1 HG02148.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0003c0011t0001 a0001c0001t0001 a0003c0011t0001	a0001c0001t0001g0088 a0001c0001t0001g0097 a0003c0011t0001g0019 a0001c0001t0001g0088 a0001c0001t0001g0097 a0003c0011t0001g0019	3	212	0.0142	511	c.363 others(528): Show c.3638-628_3638-627insAGCCAGGTGTGGTGGCTCACACCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATT GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGC TAACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATC GCTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(504): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGTGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18522.hp1 NA19030.hp1 others(2): Show HG03579.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0006 a0001c0004 a0003c0006	a0001c0004t0001 a0003c0006t0001 a0001c0004t0001 a0003c0006t0001	a0001c0004t0001g0002 a0003c0006t0001g0023 a0003c0006t0001g0032 others(2): Show a0001c0004t0001g0002 a0003c0006t0001g0023 a0003c0006t0001g0032 a0003c0006t0001g0033 a0003c0006t0001g0034	5	212	0.0236	511	c.363 others(528): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGTGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(504): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01167.hp1 HG01169.hp1 others(31): Show HG00438.hp2 HG01167.hp1 HG01169.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01934.hp2 HG01981.hp1 HG02055.hp2 HG02083.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA18946.hp2 NA19067.hp1 NA19084.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0019 a0001c0026 a0001c0038 a0001c0041 a0001c0042 a0001c0043 a0001c0046	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0019t0001 a0001c0026t0001 a0001c0038t0001 a0001c0041t0001 a0001c0042t0001 a0001c0043t0001 a0001c0046t0001	a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0072 others(31): Show a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0125 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0192 a0001c0004t0001g0099 a0001c0004t0001g0108 a0001c0005t0001g0030 a0001c0005t0001g0109 a0001c0005t0001g0118 a0001c0019t0001g0113 a0001c0019t0001g0114 a0001c0026t0001g0050 a0001c0038t0001g0092 a0001c0041t0001g0087 a0001c0042t0001g0178 a0001c0043t0001g0179 a0001c0046t0001g0137	34	212	0.1604	511	c.363 others(528): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(504): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CTGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG02145.hp1 HG02970.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0003 a0003c0016t0001g0027 a0003c0016t0001g0003 a0003c0016t0001g0027	2	212	0.0094	511	c.363 others(528): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAGCCA others(504): Show AAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGC TGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGCA GTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAAT TACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCAT CAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGCG CCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCGGTGAGCCAAGATCGCTCCATGCCACTGCACTC CAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0105 a0001c0009t0001g0105	1	212	0.0047	511	c.363 others(528): Show c.3638-629_3638-628insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCAAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAGCCAGG others(504): Show AAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTG AGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGCAGT GGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAATTA CAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCATCA AGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGCGCC TGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACTCCA GCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18991.hp2 HG03098.hp2 NA18991.hp2	a0001 a0001	a0001c0004 a0001c0036 a0001c0004 a0001c0036	a0001c0004t0001 a0001c0036t0001 a0001c0004t0001 a0001c0036t0001	a0001c0004t0001g0115 a0001c0036t0001g0166 a0001c0004t0001g0115 a0001c0036t0001g0166	2	212	0.0094	511	c.363 others(528): Show c.3638-631_3638-630insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(504): Show CCACTTACTTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA ATACCCGGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCCGCT TACTTACCTACTACATACCCGGGTCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CGGGCCCGCTTA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0066 a0002c0003t0003g0066	1	296	0.0034	511	c.368 others(528): Show c.368-3035_368-3034insTAAGCGGGCCCGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGACCCGGGTATGTAGTAGGTAAGTAAGCGGGCCCGGGTATG TAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCG GGTATGTAGTAGGTAAGTAAGCGGCCCCGGGTATTGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MBD3L3_chr19_7051207_7063676	7061827	G G	GAATATAA others(504): Show GAATATAATTATATAATATATAATTATATTATATATTATATAATTATAAT ATAATTATATAATATAATTATATTATATATAATTATATAATATAATTATA TTATATATAATTATATAATATAATTATATTATATATAATTATATTAAACA CATTATATAATATATAATTATATTATATATTATATAATCTATAATTATAT TATATATTATATAATCTATAATTATATTATATATTATATAATATATAATT ATGTTATATATTATAATACATTTAATATAATTATATTATAGATTATAATC TATAATATAATTATATTAATAGTATTATAATATATAATATATTATATATA ATTATATTATAACTTATTATATATAATTATATTATAGATCATAATCTATA ATATAATTATATATAATATGTTATAATATATAATTATATTCTATATATAA TTATATATAATATAATTATATTCTATATATAATATAATTATATATAATTA TATTCTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	288	0.0035	511	c.-32 others(522): Show c.-3223_-3222insATATATAGAATATAATTATATATAATTATATTAT ATATAGAATATAATTATATTATATATAATTATATATAGAATATAATTATA TATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATAT AATTATATATAATAAGTTATAATATAATTATATATAATATATTATATATT ATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAAATGTATTATAATATATAACATAATTATATATTATATAATATAT AATATAATTATAGATTATATAATATATAATATAATTATAGATTATATAAT ATATAATATAATTATATATTATATAATGTGTTTAATATAATTATATATAA TATAATTATATTATATAATTATATATAATATAATTATATTATATAATTAT ATATAATATAATTATATTATATAATTATATTATAATTATATAATATATAA TATAATTATATATTATATAATTATATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3152		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183314935	T T	TGAGACAG others(504): Show TGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACGAT CTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGGTA ATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTGGT CTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGC TGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTTCT AATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGAAA TATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACAAG ATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATCAC AAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTTTG TTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0025 a0001c0016t0025	a0001c0016t0025g0166 a0001c0016t0025g0166	1	176	0.0057	511	c.753 others(528): Show c.753+3132_753+3133insCAAACAAACAAACAAACAAAAAACAAAC CAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATT GTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGC AAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATC CAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATAC TGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCA AGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACA CGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGG TGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCT TGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACT CCAGCCTGGGCAACAAGAGTGAAATTCTGTCTC	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(504): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGT GTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGT GTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTG TGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGT GTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0099 a0001c0001t0007g0099	1	360	0.0028	511	c.57+ others(528): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGG GGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGG GGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGG GGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATG GGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAT others(504): Show TAATATATATTATATATAAATATATAATATATATAATATAATATATATAA ATATATAATATATATAATATATATTATATATAAATATATAATATATATTA TATATTATATATATTATAATATATAATATATATTATATATTATATATATT ATAATATATAATATATATAATATATATTATATATTATATATATATAATAT ATAATATATATTATATATAAATATATAATATATAATATATATTATATATA TATTATATAATATATAATATATTATATATATTATATAATATATTGTATAT TATATATTATATAATATATAATATATATTATATATAAATATATAATATAT AATATAATATATAATATATAATATATTATAATTATATATATTATATTATA TATAATATATTATATATTATATATTTATATATAATATATATATAATATAT ATTATATAATATATAATATATTATATATTATATAATATATATAATATATT ATATAATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0146 a0002c0002t0006g0146	1	348	0.0029	511	c.48+ others(526): Show c.48+1020_48+1021insAATATATATTATATATAAATATATAATATA TATAATATAATATATATAAATATATAATATATATAATATATATTATATAT AAATATATAATATATATTATATATTATATATATTATAATATATAATATAT ATTATATATTATATATATTATAATATATAATATATATAATATATATTATA TATTATATATATATAATATATAATATATATTATATATAAATATATAATAT ATAATATATATTATATATATATTATATAATATATAATATATTATATATAT TATATAATATATTGTATATTATATATTATATAATATATAATATATATTAT ATATAAATATATAATATATAATATAATATATAATATATAATATATTATAA TTATATATATTATATTATATATAATATATTATATATTATATATTTATATA TAATATATATATAATATATATTATATAATATATAATATATTATATATTAT ATAATATATATAATATATTATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(504): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACTGTGTATATATACACAGTATGTATACTGTG TATATATACACAGTATGTATACTGCATACAGTATGTATACTGTATACATA CTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTG TATATATACACTATACAGTATGTATACTGTATATATACACAATACAGTAT GTATACTGTATATATACACAATACAGTATGTATACTGTATATATACACAA TACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATAT ATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0015 a0001c0005t0002g0015	1	362	0.0028	511	c.-75 others(530): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATATATAC AGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGT ATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTG CATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACAGTAT ACATACTGTATGCAGTATACATACTGTGTATATATACACAGTATACATAC TGTGTATATATACACAGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTG TGTATATATACGGTATACATACTGTGTATATATACGGTATACATACATAC AGTATACATACATACAGTATACATACATACAGTATACATGCTGTATACAG TATACATGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(504): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGG GCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18945.hp2 NA18982.hp1 HG02135.hp1 NA18945.hp2 NA18982.hp1	a0001 a0001	a0001c0007 a0001c0043 a0001c0007 a0001c0043	a0001c0007t0010 a0001c0043t0001 a0001c0007t0010 a0001c0043t0001	a0001c0007t0010g0278 a0001c0007t0010g0279 a0001c0043t0001g0198 a0001c0007t0010g0278 a0001c0007t0010g0279 a0001c0043t0001g0198	3	324	0.0093	511	c.140 others(528): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(504): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGG GCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	324	0.0031	511	c.140 others(528): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(504): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATAGTTTATATAGTTTAAAACTATAT AGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGTTTTAAACTA TATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTT AAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAA ACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTAT GTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAA CTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTT AAACTATATAGT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0151 a0002c0004t0001g0151	1	244	0.0041	511	c.342 others(530): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAA CTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT ATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTTAAAC TATATAAACTATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATA TAAACTATATAGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAA CTATATAGTTTAAAACTATAAACTATATAGTTTAAAACTATATATAAACT ATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(504): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAG AGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGG AGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGA GGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGA GGGAGGGAGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGG AGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGG GGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGA GAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGA GGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0063 a0001c0003t0063	a0001c0003t0063g0144 a0001c0003t0063g0144	1	386	0.0026	511	c.92 others(522): Show c.9222_*9223insTCCCTCTCTCCCTCTCTCTCTCACTCCCTTTCCC TCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCT TCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATC CCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTC CCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCC TCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCC CTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCT CTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCTCC CTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCTCCCCC CTCCCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTC CCTCCCTGTCCCCCCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(504): Show TTATATATTATATTAATATAATTAATTATATTTATATATTATATTAATAT ATAAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTATATTAATATATAT TAATTATATTTATATATTATATTAATATATATTAATTATATTTATATATT ATATTAATATATATTAATTATATTAATATATATTAATTATATTAATATAT ATTAATATATATTAATTATATTAATATATATTAATATAATTAATATATAT TAATATATATTATATTAATATATATTATATTAATATATATTAATATATAT TATATTAATATATATTATATTAATATATATTAATATATATTATATTAATA TATATTAATATATATTATATTAATATATATTATATTAATATATATTATAT TAATATATATTAATATATATTATATTAATATATATTATATTAATATATAT TAATTATATTAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0011 a0002c0006t0001g0011	1	352	0.0028	511	c.29- others(524): Show c.29-330_29-329insATTAATTATATTTATATATTATATTAATATAT AAATTATATTTATATATTATATTAATATATATTAATTATATTTATATATT ATATTAATATATATTAATTATATTAATATATATTATATTAATATATATTA ATTATATTTATATATTATATTAATATATATTAATTATATTTATATATTAT ATTAATATATATTAATTATATTAATATATATTAATTATATTAATATATAT TAATATATATTAATTATATTAATATATATTAATATAATTAATATATATTA ATATATATTATATTAATATATATTATATTAATATATATTAATATATATTA TATTAATATATATTATATTAATATATATTAATATATATTATATTAATATA TATTAATATATATTATATTAATATATATTATATTAATATATATTATATTA ATATATATTAATATATATTATATTAATATATATTATATTAATATATATTA ATTATATTAATATATATTATATTAATATA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXN_chr17_794310_984776	949596	T T	TCCCCCTG others(504): Show TCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCCCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCGCGCCTCCTCCTCTCC CCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCTCCTCC TCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCGCGGCCCTCCCTCCTCTCCCCCCCGGCCTCCTCCTCTCCTCCCGCGG CCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	242	0.0041	511	c.360 others(530): Show c.360+29722_360+29723insGAGAGGAGGAGGCCGCGGGAGGAGAG GAGGAGGCCGGGGGGGAGAGGAGGGAGGGCCGCGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGC GCGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGGGGGAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODF3_chr11_191761_205258	196521	A A	ACATGGGG others(504): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGCTGAGGAGGACCTGGTGAGGGGACA TGGTGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG03471.hp1 others(1): Show HG01243.hp1 HG02922.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	4	388	0.0103	511	c.-53 others(520): Show c.-534_-533insCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGCTGAGGAGGACC TGGTGAGGGGACATGGTGAGGGGAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		239		chr11	TogoVar
ODF3_chr11_191761_205258	196521	A A	ACATGGGG others(504): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACA TGGTGAGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01169.hp1 others(5): Show HG00738.hp2 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG02965.hp1 HG03139.hp2 NA18990.hp2 NA19005.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0007 a0002c0003 a0004c0007	a0002c0003t0001 a0004c0007t0001 a0002c0003t0001 a0004c0007t0001	a0002c0003t0001g0008 a0004c0007t0001g0008 a0002c0003t0001g0008 a0004c0007t0001g0008	8	388	0.0206	511	c.-53 others(520): Show c.-534_-533insCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACC TGGTGAGGGGACATGGTGAGGGGAG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		239		chr11	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(504): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAG GAGGAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAG ACGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAA AGAGGGGGAAGATGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAG GAGAGAAAAGAGGGGGAAGATGGGAGGGGGAGGAGAGGAAAGAGGGGGAA GACGGGAAGAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGA AAGGGGGAAGACGGGAGGAGGAGGACAGGAAAGAGGGGGAAGATGGGAGG AGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0066 a0001c0005t0003g0066	1	326	0.0031	511	c.162 others(530): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTC CTCTCCTCCTCCCATCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCC CTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTC CCATCTTCCCCCTCTTTCCACTCCTCCTCCCGTCTTCCCCCCTTTCCTCT CCTCCTCCCATCTTCCCCCCTTTCCTCTTCTCCTCCTCCCATCTTCCCCC TCCTTCCTCTCCTCCCCTTCCCATCTTCCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PARP10_chr8_143972158_143991460	143981429	G G	GTGGTGAT others(504): Show GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGG TGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTG GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTG ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAG TGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0279 a0002c0002t0002g0279	1	380	0.0026	511	c.255 others(530): Show c.2556+1502_2556+1503insTCACCTTCACCACTCACTGTCGTCAC CACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTG TCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCAC CATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCACC ACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCA CTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCG TCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCAT CATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981666	G G	GTGGTGAT others(504): Show GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATG GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGG TGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAGTGGTGAA GGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTG ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0276 a0002c0002t0002g0276	1	380	0.0026	511	c.255 others(530): Show c.2556+1265_2556+1266insTCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTG TCGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCAT CATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACC ACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCA CTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCG TCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCAT CACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACC TTCACCACTCACTGTCGTCACCACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981912	A A	ATGGTGGT others(504): Show ATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGA TGAGTGGGGATGATGGTGGTGATGGTGACTGTTGTGATGGTGATGGTGGT GATGGTGATGGTGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATG GTGATGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGG TGATTGTTGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCAT GGTGATGGTGATGGTGATGATGATGAGTGGGGATGATTATGGTGATGGTG GTGGTGATGGTGACTGTTGTAATGGTGATGGTGGTGATGGTGATGATGGT GGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTG AGTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGGTGGTG ATGGTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGAC GACAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01081.hp2 others(18): Show HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG02109.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03225.hp2 HG03927.hp2 HG04184.hp2 NA19010.hp1 NA19056.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0002 a0005c0005 a0007c0009 a0002c0002 a0005c0005 a0007c0009	a0002c0002t0002 a0002c0002t0003 a0005c0005t0003 others(1): Show a0002c0002t0002 a0002c0002t0003 a0005c0005t0003 a0007c0009t0003	a0002c0002t0002g0010 a0002c0002t0002g0030 a0002c0002t0002g0219 others(14): Show a0002c0002t0002g0010 a0002c0002t0002g0030 a0002c0002t0002g0219 a0002c0002t0002g0237 a0002c0002t0002g0239 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0249 a0002c0002t0003g0212 a0002c0002t0003g0218 a0002c0002t0003g0223 a0005c0005t0003g0006 a0005c0005t0003g0201 a0005c0005t0003g0202 a0005c0005t0003g0297 a0007c0009t0003g0205	21	380	0.0553	511	c.255 others(530): Show c.2556+1019_2556+1020insCCACTCACTGTCGTCACCACCACCAT CACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATCCCCA CTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCA CCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCAT CACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACCATAA TCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCACCAC TCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCACCACC ATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATGACCC TCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCACCAT CACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCACCATC ACCATGACCCTCACCACTCACTGTCATCACCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCBP3_chr21_45638725_45947450	45909848	A A	ACCCCCCC others(504): Show ACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCA GATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCAC TGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCC CCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGA CCCCCCCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCG GCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACG GACCCCCCCCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCC AGATACGGACCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	292	0.0034	511	c.471 others(526): Show c.471+364_471+365insCCCCCCCACCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACC CACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGG CCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGA CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAG ATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACT GCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CCCTCCACCCACTGCCCAGATACGGACCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45910134	C C	CCCGCCCA others(504): Show CCCGCCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGG ACCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCC CAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCC ACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGC CACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACC CGGCCCACCCACTGCCCAGATATGGACCCCCCCACACACACTTCCCAGAT ACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACACACT TCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCA CCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCC CCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAGATACG GACCCCCCGCCA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	292	0.0034	511	c.471 others(526): Show c.471+648_471+649insCCGCCCACTGCCCAGATACGGACCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGGAC CCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACT GCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACC CACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCC CCACACACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATAC GGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCC CAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCA CTGCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATATGGACCTGGC CACCCACTGCCCAGATACGGACCCCCCGCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PIEZO1_chr16_88710338_88790220	88728520	G G	GCCCCATC others(504): Show GCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACAAAGTGACCCT CGATGCTGGGGAACCCAGGACATTCTGAACCCACAGCCCCATCTGCCACA GAGGGAACCTCGCGACACAAAAACAAAGTGACCCTCCATGCTGGGGAACC CAGGACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGCGA CCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATGCTGAAC CCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACCCAAAAACAAAGTG ACCCTCGATGTTGGGGAACCCAGGACATGCTGATCTCACAGCCCCATCTG CCACAGAGGGAACCTCGCGACACAAAAACAAAGTGACCCTCGATGCTGGG GAACCCAGGACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCT CGTGACCCAAAAACAAAGTGACCCTCGATGCTGGGGAACCCAGGACATTC TGAACCCACAGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG03130.hp2 HG01891.hp1 HG02258.hp2 HG03130.hp2	a0029 a0070 a0029 a0070	a0029c0028 a0070c0094 a0029c0028 a0070c0094	a0029c0028t0001 a0029c0028t0010 a0070c0094t0008 a0029c0028t0001 a0029c0028t0010 a0070c0094t0008	a0029c0028t0001g0221 a0029c0028t0010g0004 a0070c0094t0008g0279 a0029c0028t0001g0221 a0029c0028t0010g0004 a0070c0094t0008g0279	3	282	0.0106	511	c.319 others(528): Show c.3197-860_3197-859insGCTGTGGGTTCAGAATGTCCTGGGTTCC CCAGCATCGAGGGTCACTTTGTTTTTGGGTCACGAGGTTCCCTCTGTGGC AGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATCGAGGGTC ACTTTGTTTTTGTGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGAG ATCAGCATGTCCTGGGTTCCCCAACATCGAGGGTCACTTTGTTTTTGGGT CGCGAGGTTCCCTCTGTGGCAGATGGGGCTGTGGGTTCAGCATGTCCTGG GTTCCCCAGCATCGAGGGTCACTTTGTTTTTGGGTCGCGAGGTTCCCTCT GTGGCAGATGGGGCTGTGGGTTCAGCATGTCCTGGGTTCCCCAGCATGGA GGGTCACTTTGTTTTTGTGTCGCGAGGTTCCCTCTGTGGCAGATGGGGCT GTGGGTTCAGAATGTCCTGGGTTCCCCAGCATCGAGGGTCACTTTGTTTT TGGGTCGCGAGGTTCCCTCTGTGGCAGATGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PNPLA7_chr9_137454952_137555402	137503807	A A	AGGAAGAA others(504): Show AGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGA AGCAGAGAAGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAG AAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAGAAGAAGAA GAAGGAAGAAGAAGAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAAGAGAA GGAAGAAGGAAGGAAGAAGGGAAGGAAGAAGAAGAAGAAGAAGGAAGAAG AAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAGAAGAAGGAAGA AGGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAA GAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGAAAAGAAG AAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGG AAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGGAAG AATGAAGAAGAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0183 a0001c0037t0001g0183	1	188	0.0053	511	c.147 others(530): Show c.1473+1806_1473+1807insGTCTTCTTCATTCTTCCTTCTTCTTC CTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCT CTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTCTTCT TCCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTT TTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCCTTCTTC TTCTTCTTCTTCCTTCCCTTCTTCCTTCCTTCTTCCTTCTCTTCTTCTTT CTTCTTCCTTCTTCCTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTCTTC CTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTC CTTCTTCTTCCTTCTTCCTCCTTCTTCTTCTCTGCTTCTTTCTGCTTCTT CTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2123710	G G	GTCACGGC others(504): Show GTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGCGGTAGTTAGGGTCGTGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTATT TAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0263 a0001c0003t0001g0263	1	286	0.0035	511	c.335 others(530): Show c.335-11551_335-11550insCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGCGGTA GTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGT TAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141429666	A A	AGGTCCCC others(504): Show AGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CAGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGT CCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAG TCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACA GTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCAC AGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCA CAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGC ACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCG CACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGC GCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAG CGCACAGCCCAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	323	0.0031	511	c.405 others(528): Show c.405-1260_405-1259insGTCCCCGCTGTAAGGACCAGGTGGCGGG GACAGGGTGAGCGCACAGTCCAGGTCCCCGCTGTAAGGACCAGGTGGCGG GGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGG CGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTG GCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCG GTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGCACAGCCCACG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(504): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCTCCCCTCTCCTTCCTTCC CCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCC CTTCCCTCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCT CCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACT TCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTT TCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCTCCCTTCCCCTC CCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCC CTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCC CCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0172 a0002c0003t0001g0172	1	218	0.0046	511	c.80+ others(528): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCTCC CCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCC CTTCCCCTCCCCTCCCTTCCCTCCTTCCCCTCCCCTCCTCTCCCCTCCCT CCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCT CCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCT CCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCT TCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCC CTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCC CTCCCCTCCCCTCCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274697	G G	GGGTGAGT others(504): Show GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGG GGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGA GTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGG GGGTGAATGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTC TGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGG GGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGTG GGGTGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0036 a0021c0032t0036	a0021c0032t0036g0021 a0021c0032t0036g0022 a0021c0032t0036g0021 a0021c0032t0036g0022	2	292	0.0069	511	c.261 others(528): Show c.261+1295_261+1296insTGAGTGGGGTGAGTGTGGGGGGTGAGTG GGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCG GGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGA GTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGT CTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGG GGTGAGTGGGGTGAGTGGGGGGTGAATGGGGTGTCTGGGGGGTGAGTGGG GTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGT GTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGTCTGTGGGGGGTGTGGGGTGAGTGTGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274697	G G	GGGTGAGT others(504): Show GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGG GGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGA GTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGG GGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTC TGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGG GGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGTG GGGTGAGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG02970.hp1 others(6): Show HG01891.hp1 HG02717.hp2 HG02970.hp1 HG02976.hp2 HG03225.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA21309.hp1	a0015 a0020 a0040 others(4): Show a0015 a0020 a0040 a0041 a0042 a0044 a0102	a0015c0018 a0020c0031 a0040c0104 others(4): Show a0015c0018 a0020c0031 a0040c0104 a0041c0102 a0042c0103 a0044c0097 a0102c0128	a0015c0018t0022 a0015c0018t0062 a0020c0031t0012 others(5): Show a0015c0018t0022 a0015c0018t0062 a0020c0031t0012 a0040c0104t0008 a0041c0102t0003 a0042c0103t0035 a0044c0097t0022 a0102c0128t0008	a0015c0018t0022g0025 a0015c0018t0062g0024 a0020c0031t0012g0019 others(6): Show a0015c0018t0022g0025 a0015c0018t0062g0024 a0020c0031t0012g0019 a0020c0031t0012g0026 a0040c0104t0008g0023 a0041c0102t0003g0020 a0042c0103t0035g0018 a0044c0097t0022g0027 a0102c0128t0008g0168	9	292	0.0308	511	c.261 others(528): Show c.261+1295_261+1296insTGAGTGGGGTGAGTGTGGGGGGTGAGTG GGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCG GGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGA GTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGT CTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGG GGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGG GTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGT GTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGTGGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGTCTGTGGGGGGTGTGGGGTGAGTGTGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934433	A A	AGGCTGCT others(504): Show AGGCTGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTCCGTTACA GGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGC GGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTCCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAG GTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCAGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0222 a0002c0003t0004g0222	1	434	0.0023	511	c.843 others(528): Show c.843-1336_843-1335insTGCTCCGTTACAGGTGGGCAGGGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGC AGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGC AGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCGB1C1_chr11_188078_199575	196521	A A	ACATGGGG others(504): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGCTGAGGAGGACCTGGTGAGGGGACA TGGTGAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG03471.hp1 others(1): Show HG01243.hp1 HG02922.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	4	354	0.0113	511	c.20 others(522): Show c.2071_*2072insCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGCTGAGGAGGA CCTGGTGAGGGGACATGGTGAGGGGAG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1947		chr11	TogoVar
SCGB1C1_chr11_188078_199575	196521	A A	ACATGGGG others(504): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACA TGGTGAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01261.hp1 others(2): Show HG00738.hp2 HG01167.hp2 HG01261.hp1 HG02965.hp1 NA18990.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0009 a0001c0004t0001g0001 a0001c0004t0001g0009	5	354	0.0141	511	c.20 others(522): Show c.2071_*2072insCATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGA CCTGGTGAGGGGACATGGTGAGGGGAG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1947		chr11	TogoVar

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