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
FHIT_chr3_59742277_61256452	60861204	T T	TATATATG others(619): Show TATATATGATATATATCATATATGATATATATCATATATGATATATATGA TATATATCATATATGATATATATGATATATATGATATATATCATATGATA TGATATATATGATATATATGATATATATCATATGATATGATATATATGAT ATATATGATATATATCATATGATATGATATATATCATATATATGATATAT ATCATATGATATGATATATATCATATATATGATATATATCATATGATATG ATATATATGATATATATGATATATATCATATATATGATATCATATGATAT ATATCATATATATGATATATATGATATATATCATATATATGATATATATC ATATGATATCATATATATGATATATATCATATATATGATATATATCATAT GATATCATATATATGATATATATCATATATATCATATCTCATATGATATA TATCATATATATCATATCATATATGAAATATATGATATATATGATATATC ATATCATATATGATATATATGATATATATGATATATCATATCATATCATA TATGATATATATGATATATGATATATCATATCATATCATATATGATATAT ATGATATATGATATATCATATCATATC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	46	0.0217	626	c.-11 others(647): Show c.-110-39194_-110-39193insGATATGATATGATATATCATATAT CATATATATCATATATGATATGATATGATATATCATATATCATATATATC ATATATGATATGATATGATATATCATATATATCATATATATCATATATGA TATGATATATCATATATATCATATATTTCATATATGATATGATATATATG ATATATATCATATGAGATATGATATATATGATATATATCATATATATGAT ATCATATGATATATATCATATATATGATATATATCATATATATGATATCA TATGATATATATCATATATATGATATATATCATATATATCATATATATGA TATATATCATATGATATCATATATATGATATATATCATATATATCATATA TATCATATCATATGATATATATCATATATATGATATATATCATATCATAT GATATATATCATATATATGATATATATCATATCATATGATATATATCATA TATATCATATATATCATATCATATGATATATATCATATATATCATATATA TCATATCATATGATATATATCATATATATCATATATATCATATATGATAT ATATCATATATATCATATATGATATATATCATATATGATATATATCATAT AT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXJ3_chr1_42171548_42340235	42222036	G G	GGAGGAGG others(619): Show GGAGGAGGAGGAGGAGGAGAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGA GGAGAAGGAGGAAGAAGGGAGGAGAAGAAGAGGAGAAGGAGAGAGAAGGA GGAGAAGGAGGAGAAGGAGGAGAGAAAGGAGGGAGAAGGAGGAGAAGGAG GAGAGAGGAGGAGAAGGAGGAGAAGGGAGGAGAAGGAGGAGAAGGAGGAG AAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGA GGAGAAGGAGGAGAAGAGAGAAGGAGGAGAAGGAGGAAGAAGGAAGAGAA GAAGAAGAAAGAAGAAAGAAAGAAGAAAGAAGAAAGAAGAAGAAGAAAGA AGAAAGAAGAAAGAAGAAAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGA AGAAAGAAGAAGAGGAAGAAAGAAGAAAGAAGAAAGAGAAGAAAGAAGAA AGAAGAAAGAAGAAAGAAGAAAGAAGAAAAGAAGAAAGAAGAAAAGAAGA AAGAAGAAAGAAAGAAAGAAGGAAAGAAGAAAGAAAGAAGAAAGAAGAAG AGAAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAGAAGAAAGAAGAA AGAAGAAAGAAGAAAGAAGAAAGAAGA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	332	0.0030	626	c.528 others(643): Show c.528+5846_528+5847insTCTTCTTTCTTCTTTCTTCTTTCTTCTT TCTTCTTTCTTCTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTCTC TTCTTCTTTCTTCTTTCTTTCTTCTTTCCTTCTTTCTTTCTTTCTTCTTT CTTCTTTTCTTCTTTCTTCTTTTCTTCTTTCTTCTTTCTTCTTTCTTCTT TCTTCTTTCTTCTCTTTCTTCTTTCTTCTTTCTTCCTCTTCTTCTTTCTT CTTTCTTCTTTCTTCTTTCTTCTTTCTTCTTTTCTTCTTTCTTCTTTCTT CTTTCTTCTTCTTCTTTCTTCTTTCTTCTTTCTTTCTTCTTTCTTCTTCT TCTCTTCCTTCTTCCTCCTTCTCCTCCTTCTCTCTTCTCCTCCTTCTCCT CCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTCTCCTCCTTC TCCTCCTTCTCCTCCTTCTCCTCCCTTCTCCTCCTTCTCCTCCTCTCTCC TCCTTCTCCTCCTTCTCCCTCCTTTCTCTCCTCCTTCTCCTCCTTCTCCT CCTTCTCTCTCCTTCTCCTCTTCTTCTCCTCCCTTCTTCCTCCTTCTCCT CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCTCCTCCTCCTCCTCCTC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
GALNT17_chr7_71127144_71718599	71680450	C C	CCCTCCCT others(619): Show CCCTCCCTTTCTTCCTCCCTCCTCTCTCCTTCCTCCCTCCCTCTCTTCCT CCCTCCCTCTCTCTTCCTCCCTCCCACTCTCCCTTCCTCCCTCCTCTCTC CCTTCCTCCCTCCCTTCTTCCTCCCTCCCCTCTCTCCCTTCCTCCCTCCC TCTCTCTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCC CTCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTT CCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCT CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCTCTCTCCCTCCCCCCTCCCTCCTTC CTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCTCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	76	0.0132	626	c.150 others(645): Show c.1500+3151_1500+3152insTTCTTCCTCCCTCCTCTCTCCTTCCT CCCTCCCTCTCTTCCTCCCTCCCTCTCTCTTCCTCCCTCCCACTCTCCCT TCCTCCCTCCTCTCTCCCTTCCTCCCTCCCTTCTTCCTCCCTCCCCTCTC TCCCTTCCTCCCTCCCTCTCTCTCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTCTCTTCCTCCCTCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCTCT TCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCTCTCTCCCT CCCCCCTCCCTCCTTCCTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTT CCTCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTC TCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCTCTCTCCCTTCCTCCCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	626	c.31 others(637): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGG GCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTT GGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCG CCCCGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	626	c.31 others(637): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTT GGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	626	c.31 others(637): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTT GGGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(619): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCT CCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCC CCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCC CTCCCCCCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCCCCTCCCCC CCTCCCCCTCCCCCTCCCCCCTCCCCCCCCTCTCCCCCTCCCCTCCCCCC TCTCTCTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCCCCTCCTCC TCCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCA TCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCC TCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTC CCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCC TCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCT CTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0010 a0002c0008t0003g0010	1	158	0.0063	626	c.11 others(647): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTC CCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCT CTCTCCCCCTCCCCCCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCC CCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCCTCTCCCCCTCCC CTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCC CCTCCTCCTCCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCC CTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCC TCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCC TCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCC CCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCT CC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF1A_chr2_240708767_240825219	240812880	G G	GGGATCCG others(619): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCCGCCTTCACCTCGGAGATCTGCCTTCACCTCGGGGAT CCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCT CAAGGATCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCC TTCACCTCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCA GGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCAGGATCTGCCTTC ACCTCTGGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAG CCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCA AGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0168 a0001c0004t0004g0168	1	330	0.0030	626	c.-61 others(643): Show c.-61+7241_-61+7242insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC CCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGC TGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAGAGGTG AAGGCAGATCCTGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCT GAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGGTGAAG GCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCTTGA GGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGA TCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812880	G G	GGGATCCG others(619): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCCGCCTTCACCTCGGAGATCTGCCTTCACCTCGGGGAT CCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCT CAAGGATCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCC TTCACCTCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCA GGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGATCTGCCTTC ACCTCTGGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAG CCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCA AGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02723.hp2 others(5): Show HG02258.hp1 HG02559.hp2 HG02723.hp2 HG02970.hp1 HG03130.hp1 HG03225.hp1 HG03579.hp2 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0015 a0001c0017 a0001c0023 others(3): Show a0001c0015 a0001c0017 a0001c0023 a0001c0049 a0002c0030 a0005c0050	a0001c0015t0004 a0001c0015t0009 a0001c0017t0007 others(5): Show a0001c0015t0004 a0001c0015t0009 a0001c0017t0007 a0001c0023t0004 a0001c0023t0007 a0001c0049t0022 a0002c0030t0029 a0005c0050t0005	a0001c0015t0004g0157 a0001c0015t0009g0158 a0001c0017t0007g0163 others(5): Show a0001c0015t0004g0157 a0001c0015t0009g0158 a0001c0017t0007g0163 a0001c0023t0004g0159 a0001c0023t0007g0162 a0001c0049t0022g0160 a0002c0030t0029g0161 a0005c0050t0005g0164	8	330	0.0242	626	c.-61 others(643): Show c.-61+7241_-61+7242insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC CCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGC TGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAGAGGTG AAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCT GAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGGTGAAG GCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCTTGA GGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGA TCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812880	G G	GGGATCCG others(619): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCCGCCTTCACCTCGGAGATCTGCCTTCACCTCGGGGAT CCGCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCTGCCTTCACCT CAAGGATCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCC TTCACCTCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCA GGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGATCTGCCTTC ACCTCTGGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAG CCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCA AGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp1 HG03195.hp2 others(1): Show HG01243.hp2 HG03098.hp1 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0019 a0001c0032 others(1): Show a0001c0006 a0001c0019 a0001c0032 a0001c0044	a0001c0006t0043 a0001c0019t0010 a0001c0032t0013 others(1): Show a0001c0006t0043 a0001c0019t0010 a0001c0032t0013 a0001c0044t0028	a0001c0006t0043g0061 a0001c0019t0010g0146 a0001c0032t0013g0145 others(1): Show a0001c0006t0043g0061 a0001c0019t0010g0146 a0001c0032t0013g0145 a0001c0044t0028g0144	4	330	0.0121	626	c.-61 others(643): Show c.-61+7241_-61+7242insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC CCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGC TGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAGAGGTG AAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCT GAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGGTGAAG GCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCTTGA GGTGAAGGCAGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGA TCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(619): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTT CACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGAGAT CTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCT CGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGATCCACC TTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCTCAGGCA GGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAAGATCCA CCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCACCTCGG GGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCA AGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02735.hp1 HG03654.hp1 others(1): Show HG02683.hp1 HG02735.hp1 HG03654.hp1 HG03927.hp1	a0001 a0001	a0001c0006 a0001c0020 a0001c0028 a0001c0006 a0001c0020 a0001c0028	a0001c0006t0007 a0001c0020t0001 a0001c0020t0032 others(1): Show a0001c0006t0007 a0001c0020t0001 a0001c0020t0032 a0001c0028t0001	a0001c0006t0007g0174 a0001c0020t0001g0222 a0001c0020t0032g0221 others(1): Show a0001c0006t0007g0174 a0001c0020t0001g0222 a0001c0020t0032g0221 a0001c0028t0001g0220	4	330	0.0121	626	c.-61 others(643): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGTGATGGCTGATCCC CGAGGTGAAGGCAGATCCCCGAGGTGAAGGCTGATCCCTGAGGTGAAGGT GGATCTTGAGGTGAAGGCGGACCCAGAGGTGAAGGCAGATCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCAGATCCCTGAGGTGAAGGCTGATCCCT GCCTGAGGTGAAGGTGGATCTCGAGGTGAAGGCTGATCCCTGAGGTGAAG GTGGATCCTTGAGGTGAAGGCGGATCCTTGAGGTGAAGGCAGATCCCCGA GGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGA TCTCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(619): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGAGAT CTGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCT CGGGGATCTGCCTTCACCTCAAGGATCCGCCTTCACCTCAAGGATCCACC TTCACCTCAGGGATCAGCCTTCACCTCGAGATCCACCTTCACCTCAGGCA GGGATCAGCCTTCACCTCAGGGATCTGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGATCTGCCTTCACCTCTGGGTCCGCCTTCACCTCAAGATCCA CCTTCACCTCAGGGATCAGCCTTCACCTCGGGGATCTGCCTTCACCTCGG GGATCAGCCATCACTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCA AGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0188	1	330	0.0030	626	c.-61 others(643): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGT GAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGTGATGGCTGATCCC CGAGGTGAAGGCAGATCCCCGAGGTGAAGGCTGATCCCTGAGGTGAAGGT GGATCTTGAGGTGAAGGCGGACCCAGAGGTGAAGGCAGATCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCAGATCCCTGAGGTGAAGGCTGATCCCT GCCTGAGGTGAAGGTGGATCTCGAGGTGAAGGCTGATCCCTGAGGTGAAG GTGGATCCTTGAGGTGAAGGCGGATCCTTGAGGTGAAGGCAGATCCCCGA GGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGA TCTCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240812943	C C	CGCCTTCA others(619): Show CGCCTTCACCTCGGAGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTC GGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCAAGGATCCGCCT TCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGAGAT CCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCAGGGATCTGCCTTC ACCTCGGGGATCCGCCTTCACCTCAGGATCTGCCTTCACCTCTGGGTCCG CCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAGCCTTCACCTCGGG GATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGGGATCCGCCTTCAC CTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGG GGATCTGCCTTCACCTCGGGGATCCGCCTTCACCTCAAGGATCCGCCTTC ACCTCGGGGATCAGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATC AGCCTTCACCTCAAGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGGGATCCGCCTTCACCTCGGGGATCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02717.hp2 HG01261.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0038 a0001c0001t0033 a0001c0001t0038	a0001c0001t0033g0167 a0001c0001t0038g0166 a0001c0001t0033g0167 a0001c0001t0038g0166	2	330	0.0061	626	c.-61 others(643): Show c.-61+7178_-61+7179insAGATCCCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCTTGAGGTGAAGGCTG ATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTG AAGGCGGATCCTTGAGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCCC CGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC TGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGG TGAAGGCGGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCC CCGAGGTGAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGC GGACCCAGAGGTGAAGGCAGATCCTGAGGTGAAGGCGGATCCCCGAGGTG AAGGCAGATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGA TCTCGAGGTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAA GGCGGATCCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCGGATCCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
LAMC1_chr1_183018420_183150592	183150076	C C	CCTCACAC others(619): Show CCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCC ACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACA CCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCC CTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCAC ACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCT CCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACACCACACAG CTCACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTC ACACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCTCA CACCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACAC ACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCCCT CTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACAC AGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCCTCCTC ACACACCACACAGCCCACACCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	308	0.0033	626	c.72 others(637): Show c.7286_*7287insCTCACACACCACACAGCTCACATCCCTCTCCTCA CACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCAC ACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCACACACC ACACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCT CTCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGC TCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCC TCACACACCACACAGCTCACACCCCTCTCCTGCTCACACACCACACAGCT CACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCAC ACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACACCC CTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCAC ACAGCCCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCT CCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTC ACACCCCTCCTCCTCACACACCACACAGCCCACACCCCTCTC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4485		chr1	TogoVar
LGR6_chr1_202188799_202324761	202205249	C C	CACACACA others(619): Show CACACACACACCTCCAAACACACACACACCTAGCACACACTCCTCCACAC ACACACACACCTAACACACACCTCCTTCAAACGCACACACACCTCCAAAC ACACATGCACCTCCAAACACACACACACACCTCCAAACACACATACACCT CCAAACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAA ACACACACACATCTAACACACACACCCCTCCTTCAAACACACACACACCT CCAAAGACACACACACACCTATCACACCTTCAAACACACACACACCTAAC ACAGACCTCCAAACACACACACACCTCCAAACACACACACACCTAACACA CACACACCTATCACACACCTCCTTCAAACACACACACCTAACACACCCGT CCTTCAAACACACACACACACCACACACATCTAACACCTCCTTCAGACAC ACACCTCCAAACACACACACACCTTACACACACCTTCAAACACACACACA CCTCCACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCA AACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACACCTAACACACACCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01256.hp1 others(9): Show HG00408.hp1 HG00741.hp2 HG01256.hp1 HG01361.hp1 HG01891.hp1 HG02155.hp1 HG02486.hp2 HG03225.hp2 HG03516.hp2 HG03688.hp2 NA19068.hp2 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0002c0002 a0003c0004 others(4): Show a0001c0001 a0002c0002 a0003c0004 a0003c0031 a0004c0003 a0007c0009 a0008c0010	a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 others(4): Show a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 a0003c0031t0001 a0004c0003t0003 a0007c0009t0004 a0008c0010t0001	a0001c0001t0001g0103 a0001c0001t0001g0138 a0001c0001t0001g0164 others(9): Show a0001c0001t0001g0103 a0001c0001t0001g0138 a0001c0001t0001g0164 a0002c0002t0002g0139 a0002c0002t0002g0163 a0003c0004t0001g0110 a0003c0004t0001g0165 a0003c0031t0001g0137 a0004c0003t0003g0053 a0007c0009t0004g0018 a0007c0009t0004g0019 a0008c0010t0001g0104	12	262	0.0458	626	c.212 others(645): Show c.212+11058_212+11059insCTCCAAACACACACACACCTAGCACA CACTCCTCCACACACACACACACCTAACACACACCTCCTTCAAACGCACA CACACCTCCAAACACACATGCACCTCCAAACACACACACACACCTCCAAA CACACATACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACA CACACACCTCCAAACACACACACATCTAACACACACACCCCTCCTTCAAA CACACACACACCTCCAAAGACACACACACACCTATCACACCTTCAAACAC ACACACACCTAACACAGACCTCCAAACACACACACACCTCCAAACACACA CACACCTAACACACACACACCTATCACACACCTCCTTCAAACACACACAC CTAACACACCCGTCCTTCAAACACACACACACACCACACACATCTAACAC CTCCTTCAGACACACACCTCCAAACACACACACACCTTACACACACCTTC AAACACACACACACCTCCACACACACACCTAACACACACCTCCTTCAAAC ACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LOC128092252_chr15_50643802_50691717	50679477	T T	TATATATA others(619): Show TATATATATATTATATATATGTGTATATATATAATATATATATATATTAT ATATATGTGTATATATATAATATATATATATATTATATATATGTGTATAT ATATAATATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATTATATATATGT GTATATATATAATATATATATATATTATATATATGTGTATATATATAATA TATATATATTATATATATGTGTATATATATAATATATATATATTATATAT ATGTGTATATATATAATATATATATATATTATATATATGTGTATATATAT AATATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATATTATATATATGTGTATATATATAATATATATATA TTATATATATGTGTATATATATAATATATATATATTATATATATGTGTAT ATATATAATATATATATATATTATATATATGTGTATATATATAATATATA TATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0023 a0001c0001t0000g0023	1	388	0.0026	626	c.187 others(643): Show c.187+7053_187+7054insTATATATATACACATATATATAATATAT ATATATTATATATATACACATATATATAATATATATATATATTATATATA TACACATATATATAATATATATATATTATATATATACACATATATATAAT ATATATATATTATATATATACACATATATATAATATATATATATTATATA TATACACATATATATAATATATATATATTATATATATACACATATATATA ATATATATATATTATATATATACACATATATATAATATATATATATATTA TATATATACACATATATATAATATATATATATATTATATATATACACATA TATATAATATATATATATTATATATATACACATATATATAATATATATAT ATTATATATATACACATATATATAATATATATATATATTATATATATACA CATATATATAATATATATATATTATATATATACACATATATATAATATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATATATTATATATATACACATATATA TAATATATATATATATTATATATATACACATATATATAATATATATAT	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
LOC128092252_chr15_50643802_50691717	50679477	T T	TATATATA others(619): Show TATATATATATTATATATATGTGTATATATATAATATATATATATATTAT ATATATGTGTATATATATAATATATATATATTATATATATGTGTATATAT ATAATATATATATATTATATATATGTGTATATATATAATATATATATATA TTATATATATGTGTATATATATAATATATATATATATTATATATATGTGT ATATATATAATATATATATATATTATATATATGTGTATATATATAATATA TATATATATTATATATATGTGTATATATATAATATATATATATATTATAT ATATGTGTATATATATAATATATATATATATTATATATATGTGTATATAT ATAATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATTATATATATGTGTATATATATAATATATATATATA TTATATATATGTGTATATATATAATATATATATATATTATATATATGTGT ATATATATAATATATATATATTATATATATGTGTATATATATAATATATA TATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0021 a0001c0001t0000g0021	1	388	0.0026	626	c.187 others(643): Show c.187+7053_187+7054insTATATATATACACATATATATAATATAT ATATATTATATATATACACATATATATAATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATATTATATA TATACACATATATATAATATATATATATTATATATATACACATATATATA ATATATATATATTATATATATACACATATATATAATATATATATATTATA TATATACACATATATATAATATATATATATATTATATATATACACATATA TATAATATATATATATATTATATATATACACATATATATAATATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATATATTATA TATATACACATATATATAATATATATATATTATATATATACACATATATA TAATATATATATATATTATATATATACACATATATATAATATATATAT	LOC128092252	ENSG00000288645.1	transcript	ENST00000676296.1	protein_coding	1/3			chr15	TogoVar
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(619): Show CCACCACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCAC CACCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCATCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0226 a0010c0017t0002g0226	1	362	0.0028	626	c.391 others(641): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCATCACCACCACCAC CACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCATCA CCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19478090	G G	GGTGGGGG others(619): Show GGTGGGGGAGAGGGGGGAGAGAGGTGGGGGAGAGGGGGGGAGAGGGGGGG GGGGAGAGAGGGGGGAGGGGGAGAGAGGGGGGGAGGGGGGAGAGAGGGGA GAGAGGGGGGAGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGGAGGG GGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGG AGGGAGGAGAGGGGGGAGGGGGGAGGGAGGAGAGGGGGGAGGGGGGAGGG AGGAGAGGGGGGAGGGGGGAGGGAGGAGAGGGGGGAGGGGGGAGAGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGGGGGGGAGGGGGGGAGAGGGGGGAG GGGGGAGGGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG GAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGGAG AGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGA GAGGGGGGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGGGAGGG GGGAGGGGGGGAGGGGGAGGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGA GGGGGGAGGGGGGAGAGGGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0159 a0002c0002t0006g0159	1	163	0.0061	626	c.525 others(643): Show c.525+8391_525+8392insTCTCTCCCCCCTCTCCCCCCTCCCCCCT CTCCCCCCTCCCCCTCTCCCCCCTCCCCCCCTCCCCCTCCCCCCCTCCCC CCTCCCCCCCCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCCTC TCCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCC CCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCCCTCCCCCC TCCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCTCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCCCCCCTCTCCTC CCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCCCCCCTCTCCTCCCTC CCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCC CCTCCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCT CCCCTCTCTCCCCCCTCCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCC CCCCCCTCTCCCCCCCTCTCCCCCACCTCTCTCCCCCCTCTCCCCCAC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(619): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCC CCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCT CCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCC TCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	140	0.0071	626	c.114 others(645): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCC TCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTC CTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(619): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	364	0.0028	626	c.394 others(641): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATA TATATATTCATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(619): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTAGTTTAT ATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATATAGTTTATATAGTTTAAAACTATAGTTTATATAGTT TAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATA GTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTT TAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTA TGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAA ACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTAT ATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAA CTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATAT TTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0195 a0002c0001t0001g0195	1	244	0.0041	626	c.342 others(645): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTAC ATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTT AAAACTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAA CTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTT AAACTATATAAACTATAGTTTTAAACTATATAAACTATATAGTTTTAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTA TATAAACTAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAA CTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACT ATATAGTTTAAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(619): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGT CCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCC CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19007.hp1 NA19070.hp1 others(1): Show NA19004.hp1 NA19007.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0028 a0002c0002t0003 a0001c0001t0001 a0001c0001t0028 a0002c0002t0003	a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0028g0084 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0028g0084 a0002c0002t0003g0001	4	155	0.0258	626	c.155 others(645): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(619): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTC CAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03942.hp1 HG02451.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0044 a0001c0001t0004g0010 a0001c0001t0001g0044 a0001c0001t0004g0010	2	155	0.0129	626	c.155 others(645): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(619): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCGAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGT CCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCC CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0148 a0001c0001t0015g0148	1	155	0.0065	626	c.155 others(645): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACC TCCCGGACGGGGCGGCTCGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(619): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	439	0.0023	626	c.-16 others(637): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(619): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATA CTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	439	0.0023	626	c.-16 others(637): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATAC TATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PLEKHN1_chr1_961482_980865	976843	C C	CAACCCCG others(619): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCC CCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	422	0.0024	626	c.22 others(637): Show c.2268_*2269insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		979		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(619): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCC CTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTC CCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCT TCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCT CTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTC CCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTC CCTCTGTCCCATCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCC CTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCCTCCTT CTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0167 a0001c0001t0031g0167	1	210	0.0048	626	c.439 others(645): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTC CCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCT CCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCT CCCCTCCCTCTCTGTCCCCCTCCCCTCTCATCCCCTTCCTCTTTCTCTCC CTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTT TCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTT CCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCT TTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCC CGTCCCTCTCTCCCCCTCCCTCTGTCCCATCCCTCTCTCCCCCTCCCTCT CTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCT CCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKX_chrX_3599340_3718649	3639324	G G	GGGGTGGA others(619): Show GGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGG TGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGA TGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGA TGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATG AAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGG GGTGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGG GGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGTG GATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGTGGAT GGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGG ATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATG AAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGA AGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGG GTGGGGGGGGTGGATGGATGAAGGGGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0068 a0001c0001t0069g0068	1	227	0.0044	626	c.719 others(643): Show c.719+2527_719+2528insACCCCTTCATCCATCCACCCCCCCCACC CCTTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTT CATCCATCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTC ATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATC CATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCA TCCACCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCC ACCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCC CCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCACCC CTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTC ATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCAT CCATCCACCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCAT CCACCCCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCAC CCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(619): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGA TGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTG GTGATGGTGGTGATGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	154	0.0065	626	c.-32 others(647): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACAACTACCATCATCACCACCATCACCACCACCACAACTA CCATCATCACCACCATTATCACTATTATCACCACCGTTACCACCACCACT GCCATCACCACCATCATCGCCATTATCACCATTACCATTGCCATCACCAT CACTACTATCATAATCACCCTCACCGCCATCACTGCCATCATCACCATTG CCACCACCATCACCACCATCATTACTATCATCACCACCACCACCATCACT GACATGATCACCATTACCACCACCACCACTGCCGTCACCACCATTATCAC TATTATCACCACCGTTACCACCACCACTGCCATCACCACCATCATTACTA TCATCATCACCATCACCACCATCATCGCCATTATCACCATTACCATCGCC ATCACCACCATCACTACTCTCATAATCACCATCACTGCCATCATCACCAT TGCCATCACTATCACCACCATCATGACTATCATCACCATCACCACCACCA CCACCATCACTGACATATAATCACCATTACCACCACCACCATTATCACTG TCATCATCATCTCCATCAATACCACCACCATCATCACCACCATCACCACC AC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RERE_chr1_8347404_8822640	8501936	G G	GGGGGGGT others(619): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAG GGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGAAGGTGGGGGGGATCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCACGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCACG GCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	204	0.0049	626	c.880 others(643): Show c.880-4408_880-4407insACCTCCCTCCCGGACGGGGCGGCTGGCC GTGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGTGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGGCTGATCCCCCCCACCTTCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCC TCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(619): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATATATATAATT TTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	170	0.0059	626	c.59- others(643): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATATATACA CACACACACACACACACACACACATATACATACACATATATATGTGTGTA TATATACATGTATATATATGTATGTATATATGTGTATATATACATGTATA TATGTATGTATATATACGTGTATATTATGTATATATATACACATGATATA TATGTATGTATATATCATGTATATATATACATATATGTGTATATATACAC GATATATATGTGTATATATCATGTATATATATACATGTATACAATATATT ATATATACATATATATTATATACATGTATATATACCTGTATACAATATAT TATATATACGTGTATATAATATATATACACGTATATATATTGTATACACG TATATATAATATATACTTTATATATAATATATACATGTATATATATACTA TATATTATATATTAATATATACATGTATAATATATACATGTATATATTAT ATATACATATATATGTATATATAATATATACATATATGTACATATAATAT ACATGTCTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMD11_chr1_918923_949574	934123	G G	GGGGGCGG others(619): Show GGGGGCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGC AGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGC GTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGGCGGCTCCGTTACAGGTGGGCA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0239 a0002c0003t0004g0239	1	434	0.0023	626	c.843 others(643): Show c.843-1648_843-1647insGGGCGGCTGCGTTACAGGTGGGCGGGGG CGGCTGCGTTACAGGTGGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGG CGGCTCCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCAG GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTAC AGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGGCGGCTCCGTTACAGGTGGGCAG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289946	T T	TCCCCCGT others(619): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0234 a0001c0001t0005g0234	1	290	0.0035	626	c.166 others(643): Show c.1663-322_1663-321insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(619): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCACCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCCTCCCCCTCCCCTCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCAC CCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0142 a0001c0001t0012g0142	1	150	0.0067	626	c.77- others(643): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCCTCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCACCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCACCCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(619): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCACCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCCTCCCCCTCCCCTCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCAC CCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0070 a0001c0001t0024g0070	1	158	0.0063	626	c.22+ others(643): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCCTCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCACCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCACCCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	432120	T T	TAGATGGC others(619): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCCAGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCAGGCA GATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAG GCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGT TAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGA GAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATC GTGAGTGAGAGTTAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	212	0.0047	626	c.111 others(645): Show c.1111-1374_1111-1373insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCT AACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCG CCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTAT CTGCCTGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCG CCATCTATCTGCCCCGCCTCCTCTATCTCTCACTCACGATCTCACTCACG ATGAAGCGCCATCTATCTGCCTGGCCTCCTCTATCTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACG ATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCT CACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCT CTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCT GGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SKI_chr1_2223319_2315213	2281859	C C	CGCCCGAG others(619): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGA TCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAG AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTC AGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGA GGATGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCC CGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG GTGGCGGAGATCTTCATAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0187 a0002c0004t0001g0187	1	330	0.0030	626	c.970 others(645): Show c.970-21073_970-21072insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG AGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAG GCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGG CGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG AGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGAC AGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCTGAGAAGACAGGCGGT GGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCA GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAG AGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(619): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATAATA TATATAGTATATATTATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATAATATATATATTGTATATATTATA TATTGTATATATAATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	156	0.0064	626	c.176 others(643): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATAATATATACTATATAT ATTATATACAATATATAATATATACTATATATATTATATACAATATATAA TATATACTATATATATTATATACAATATATAATATATACTATATATATTA TATATACAATATAAAATATATATAATATATATTAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(619): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCA GAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGG GAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAG GGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGG GAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGG AGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGG GAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGA GGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	626	c.12 others(637): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCC TTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCC TCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTC CCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCC TCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTC CTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTC CCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCC CTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTC CCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(619): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGAGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAG GGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAA GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAA GGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGA GGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	626	c.12 others(637): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTTCCCCATCCTCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCT CTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCC CTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTC CCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCC TTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(619): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAG GGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAA GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAA GGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGA GGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	626	c.12 others(637): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCT CTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCC CTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTC CCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCC TTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(619): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGG AGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	364	0.0028	626	c.157 others(645): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCTCTCTCC CCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCC GTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGT TCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCACC CCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCC ACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCAC CCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCAC CCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTC CCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(619): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGG AGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	364	0.0028	626	c.157 others(645): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCT CCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTCC CCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCC GTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGT TCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCACC CCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCC ACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCAC CCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCAC CCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTC CCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(619): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAGCGG GGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAGCGGGGTGGGAGAGCAG GGTGGGAGGGGGTGGGAGAACGGGGTGGGGGTGGGAGGGGGTGGGAGAAC GGGGTGGGAGCGAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGG GGTGGGGGTGAGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGGGA ACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAAC GGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGG GGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGG AGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	364	0.0028	626	c.157 others(645): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCG TTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCAC CCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCC CGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGCTGTCCCACCCCGCTCTCAC CCCGCTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCAC CCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTC CCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(619): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCTGTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCT CTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0103 a0001c0003t0003g0103	1	256	0.0039	626	c.924 others(643): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAACAGAGAGAGAGAGA GAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(619): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTC TCTCTCCTCTCTCCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCGTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCT CTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	256	0.0039	626	c.924 others(643): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GACGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGGAGAGAGGAGAGAG AGAGAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGGACAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(619): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	256	0.0039	626	c.924 others(643): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGA CAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGCCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02976.hp1 HG03195.hp1 others(1): Show HG02257.hp2 HG02976.hp1 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	434	0.0092	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar

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Search Results (Total: 10000 hits)