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
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(410): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGAGGGAGGGAGGGGGAGGGAGGG AGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGAGGGGGAGGAGGGA GGGGGAGAAGGGGGAGAAGAAGGAGAAGAAGGAGAAGAGGAAGAGGAAGA AGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGA GGAGGAGAAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0043 a0001c0001t0008g0044	2	396	0.0051	417	c.807 others(434): Show c.807-1376_807-1375insTCCTCCTTCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCTCC CCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCC TCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCC TCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(410): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGG AGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA GGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	370	0.0027	417	c.-30 others(436): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCGCTCCCCTCCCCTCGCTCGC TCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGC TCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCC TCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCT CCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTC CCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTC GCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SIGIRR_chr11_400716_419999	401430	G G	GCCCCGCT others(410): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG GCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	242	0.0041	417	c.44 others(428): Show c.4465_*4466insGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGG GGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4285		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(410): Show GCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCCGGCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	242	0.0041	417	c.43 others(428): Show c.4343_*4344insGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGCCGGGT GTGAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAG CGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGG GGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGC CGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(410): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0091 a0004c0005t0001g0091	1	242	0.0041	417	c.43 others(428): Show c.4343_*4344insGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCG GGGGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGTGTGAGCGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAG CGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGG GGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGC CGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCG GGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(410): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGCAGGGGGAGGAGG CGGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGG AGGCGGGAGGGGGAGGAGGCGTGGGGGCGGGAGGGGGAGGAGGCGGGGAG GCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGG GAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGCGGGAGGGGCGGGAGGGGG AGGAGGCGGGGGGCGGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGCGGGA GGGGGCGGGAGGGGGAGGAGGCGGGGGGCGGGGGGGCGGGAGGGGAAGGG GGCGGGGGGGCAGGGGGGGCGGGGGGGCGGGAGGGGGAGGACGCGGGGGG GGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0021 a0001c0001t0011 a0001c0001t0021	a0001c0001t0011g0210 a0001c0001t0021g0025 a0001c0001t0011g0210 a0001c0001t0021g0025	2	222	0.0090	417	c.914 others(436): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCGCCCCCCCTGCCCCCCCGCCCCCTTCCC CTCCCGCCCCCCCGCCCCCCGCCTCCTCCCCCTCCCGCCCCCTCCCGCCC CCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCCCCCGCCTCCTCCCCCTCC CGCCCCTCCCGCCCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCC CCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGC CTCCTCCCCCTCCCGCCCCCACGCCTCCTCCCCCTCCCGCCTCCCCGCCT CCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCC CCCTGCCGCCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(410): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATTATATATAAATATAAATATA TTATATATATTATATATAAATATAAATATATTATATATTATATAAATATA AATATATTATATATTATATAAATATAAATATATTATATATTATATATAAA TATAAATATATTATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTAAT ATATTATATATAATATAAATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAATATAAATAT ATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0317 a0002c0002t0001g0317	1	346	0.0029	417	c.-70 others(434): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATTTATATTATATATAATATATTAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATATAATATATATAATATATTTATA TTTATATATAATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(410): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TTATATATAATATAAATATATTATATATATTATATATAAATATAAATATA TTATATATATTATATATAAATATAAATATATTATATATTATATAAATATA AATATATTATATATTATATAAATATAAATATATTATATATTATATATAAA TATAAATATATTATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTAATATATTATATATAATATAAATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAATATAAATAT ATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0266 a0002c0002t0002g0266	1	346	0.0029	417	c.-70 others(434): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TTTATATTATATATAATATATTAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTTATATATA ATATATAATATATTTATATTTATATAATATATAATATATTTATATTTATA TAATATATAATATATTTATATTTATATATAATATATATAATATATTTATA TTTATATATAATATATATAATATATTTATATTATATATAATATATAATAT ATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLCO3A1_chr15_91848708_92170903	92143357	A A	ATATATAT others(410): Show ATATATATATATTATATAATATATATATAAAATATATATATATTATATAA TATATATAAAATATATATATTATATTATATATAAAATATATATATTATAT TATATATAAAATATATATATTATATAATATATATAAAATATATATATTAT ATAATATATATAAAATATATATATTATATAATATATATATAAAATATATA TATTATATAATATATATATAAAATATATATATTATATATTATATAATATA TATATAAAATATATATAATATATAATATATGTAATATTATATATATTATA TATTATATATATTATATATTATATATATTATATATAATATATATAATATA TATAATATATATATTATATATAATATATATAATATATATAAAAAATATAT ATATTATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0114 a0001c0006t0004g0114	1	190	0.0053	417	c.151 others(436): Show c.1513-3627_1513-3626insTATATATATATTATATAATATATATA TAAAATATATATATATTATATAATATATATAAAATATATATATTATATTA TATATAAAATATATATATTATATTATATATAAAATATATATATTATATAA TATATATAAAATATATATATTATATAATATATATAAAATATATATATTAT ATAATATATATATAAAATATATATATTATATAATATATATATAAAATATA TATATTATATATTATATAATATATATATAAAATATATATAATATATAATA TATGTAATATTATATATATTATATATTATATATATTATATATTATATATA TTATATATAATATATATAATATATATAATATATATATTATATATAATATA TATAATATATATAAAAAATATATATATTATATAATATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SMOC2_chr6_168436184_168672992	168594497	C C	CGAGCTCC others(410): Show CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCG CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATC GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCT AGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCAAGAGTATCTTTC TAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTT TCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCA TCTTTCTAGAGGATCGCG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	180	0.0056	417	c.638 others(434): Show c.638-4295_638-4294insACGGGCATCTTTCTAGAGGATCGCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCGCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCT CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGG ATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCAAGAGTATCTTTCTAGAG GATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAG AGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTT CTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594497	C C	CGAGCTCC others(410): Show CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCG CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATC GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCT AGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGTATCTTTC TAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTT TCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCA TCTTTCTAGAGGATCGCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01256.hp2 others(25): Show HG00609.hp2 HG01069.hp1 HG01256.hp2 HG01361.hp1 HG01978.hp1 HG02135.hp2 HG02572.hp2 HG02735.hp1 HG02809.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18960.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19000.hp2 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 others(25): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0171 a0001c0001t0011g0119 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0007g0016	28	180	0.1556	417	c.638 others(434): Show c.638-4295_638-4294insACGGGCATCTTTCTAGAGGATCGCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGATCGCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGGATCT CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTTCTAGAGG ATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGTATCTTTCTAGAG GATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGA GGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAG AGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGGGGCATCTTT CTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(410): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGG GGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAA GGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGGACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0183 a0005c0006t0011g0183	1	251	0.0040	417	c.34 others(426): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCC CCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(410): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAAGCG GGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAGGGGGAGGGGG GAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAG CGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGG GAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	251	0.0040	417	c.34 others(426): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCC TCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCT TCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCC TCCCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCACCT CCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(410): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGG AAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG GAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	251	0.0040	417	c.34 others(426): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCATCTCCCC TCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCC CCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCC TCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCT CCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(410): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGG GGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGG GAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGG GAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAG GGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG GAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02451.hp1 HG01516.hp2 HG01517.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0002 a0001c0001t0002g0129 a0001c0001t0021g0179 a0001c0001t0002g0002 a0001c0001t0002g0129 a0001c0001t0021g0179	3	251	0.0120	417	c.34 others(426): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(410): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGTG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGG GGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGG GAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGAAGCGG GAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAG GGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG GAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAG GGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	251	0.0040	417	c.34 others(426): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTC CCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SUFU_chr10_102498972_102638535	102637589	A A	AATATATG others(410): Show AATATATGATTATAAAATATAATCATATATAATATATGATTATAAAATAT AATCATATATAATATATGATTATAAAATATAATCATATATAATATATGAT TATAAAATATAATCATATATTATATATGATTATAAAATATAATTATATAT TATATATGATTATAAAATATAATTATATATTATATATGATTATAAAATAT AATTATATATATTATATATGATTATAAAATATAATTATATATTATATATG ATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATAT ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	268	0.0037	417	c.74 others(428): Show c.7434_*7435insATATATGATTATAAAATATAATCATATATAATAT ATGATTATAAAATATAATCATATATAATATATGATTATAAAATATAATCA TATATAATATATGATTATAAAATATAATCATATATTATATATGATTATAA AATATAATTATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATATTATATATGATTATAAAATATAAT TATATATTATATATGATTATAAAATATAATTATATATTATATATGATTAT AAAATATAATTATATATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4055		chr10	TogoVar
SWAP70_chr11_9659077_9757993	9705797	G G	GCACTGGT others(410): Show GCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGT ATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCT GTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGAT CTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCACTGGTG ATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGG TGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACACT GGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACA CTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTA TACTTGGTGATCTGTATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0183 a0002c0004t0001g0183	1	294	0.0034	417	c.241 others(434): Show c.241-7510_241-7094dupCTGGTGATCTGTGTATACTTGGTGATCT GTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGAT CTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTG ATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGG TGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACT GGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACA CTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTA TACTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTG TATACTTGGTGATCTGTATACACTGGTGATCTGTATACA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9706127	A A	ACACTGGT others(410): Show ACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGT ATACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCT GTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGAT CTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCACTGGTG ATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGG TGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACACT GGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACA CTGGTGATCTGTGTACACTTGGTGATCTGTATACACTGGTGATCTGTGTA TACTTGGTGATCTGTATG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0235 a0001c0003t0003g0235	1	294	0.0034	417	c.241 others(434): Show c.241-7273_241-7272insATACACTGGTGATCTGTGTATACTTGGT GATCTGTATGCACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTG GTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATGCAC TGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATAC ACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTAT ACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGT ATACACTGGTGATCTGTGTACACTTGGTGATCTGTATACACTGGTGATCT GTGTATACTTGGTGATCTGTATGCACTGGTGATCTGTATACACTGGTGAT CTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTTA others(410): Show TGTGGTTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGG GGGGAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGAC GGCAGGGAAAGGAGGGGGTAGGTGGGGGGGGAGGGAGGGGGCGGCGGGGA GAGGGAGGGGTGGCGGGGGTAGGGAGGGCAATGGGGGGGGGGAGGGAGGG GTGCAGCAGGGGGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGG GGGGAGGGAGGGGCGTGGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGG GGGGGCGGCGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGG GGAGGAGGGAGGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGGAGGGAG GGGGGCGGCGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0182 a0001c0004t0001g0182	1	314	0.0032	417	c.309 others(436): Show c.3091-8707_3091-8706insCCTCCCCCCGCCGCCCCCCTCCCTCC CCCCCATGCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCTCCCCGCCGCC CCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCGCCGCCCCCCCCTCCCT CCCCCCACACCCTCCCTCCCCCCCCCACGCCCCTCCCTCCCCCCCCCCGC CGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCCTCCCT CCCCCCCCCCATTGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCC GCCCCCTCCCTCCCCCCCCACCTACCCCCTCCTTTCCCTGCCGTCTCCTC CTTCCCCCCACCACAACCTCCCTCCCCCACCACACCCTCCCCCCCCACTG CACCCTCCCTCCCCTGCCACCCCTTCCCTCCCCATAACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TBC1D1_chr4_37886084_38144173	37886379	G G	GAAAGAAA others(410): Show GAAAGAAAGAAAGAATTAGGAAGAAAGCTAGGAAGGAAGGAAGGAAAAAG AAAGAGGAAGACAAAGAAAGAGAAGAGAAGAGAAAAGAAGAAAAAAGAAA GAAAAAGAAAAAAGAGAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAA AGAAAAAAAAAAAAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAGAAAATA AAAAAAAAAAAAATAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAAAAATAAATAAAAAAAAAAAATAAAAAAAAAAAAAAAA AAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0003 a0012c0033t0003	a0012c0033t0003g0038 a0012c0033t0003g0038	1	310	0.0032	417	c.-50 others(428): Show c.-5063_-5062insAAAGAAAGAAAGAATTAGGAAGAAAGCTAGGAAG GAAGGAAGGAAAAAGAAAGAGGAAGACAAAGAAAGAGAAGAGAAGAGAAA AGAAGAAAAAAGAAAGAAAAAGAAAAAAGAGAAAAAAAAAAGAAAAAAAA AAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAGAGAAAAAAAAAA AAAAAAAAGAAAATAAAAAAAAAAAAAATAAAAAAATAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATAAATAAAAAAAAAAAATA AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding		4704		chr4	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAA others(410): Show ATATATAATATACCTATTATATACATTATATATAATATACCTATTATATG CATTATATATAATATACCTATTATATGCATTATATATAATATACCTATTA TATGCATTATATATAATATACCTATTATATGCATTATATAATATATTATA TATAATATGCATATTATATGTATTATATATTATATATTATATATAATATA CATATTATATGTATTATATATAATATATTATATATATAATATACATATTA TATGTATTATATATTACATATAATATACATATTATATATTATATATTATA TACATATTATATATTATATATTATATACATATTATATATTATATACATAT TATATATTATATATTATATACATATTATACATTATATATATCTAAAATAT ATAATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG02615.hp2 others(7): Show HG00741.hp2 HG01884.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp1 HG02970.hp1 HG03209.hp1 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0005 a0005c0013t0005 a0001c0001t0005 a0005c0013t0005	a0001c0001t0005g0036 a0001c0001t0005g0117 a0001c0001t0005g0118 others(6): Show a0001c0001t0005g0036 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0139 a0001c0001t0005g0153 a0001c0001t0005g0163 a0001c0001t0005g0168 a0001c0001t0005g0241 a0005c0013t0005g0020	10	360	0.0278	417	c.62 others(428): Show c.6210_*6211insATATATAATGTGTATTATATATTTTAGATATATA TAATGTATAATATGTATATAATATATAATATATAATATGTATATAATATA TAATATGTATATAATATATAATATATAATATGTATATAATATATAATATA TAATATGTATATTATATGTAATATATAATACATATAATATGTATATTATA TATATAATATATTATATATAATACATATAATATGTATATTATATATAATA TATAATATATAATACATATAATATGCATATTATATATAATATATTATATA ATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATA TATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATAT TATATATAATGTATATAATAGGTATATTATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
TMEM132D_chr12_129066726_129909025	129088623	G G	GGGTGTCC others(410): Show GGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCTA TGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTC TATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGGTGTC CTCTATGACCGGGTGTCCTCCCTGACTGGGGTGTCCTCTATGACCGGGTG TCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGG TGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCTATGACCG GGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACC GGGGTGTCCTCCATGACC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	94	0.0106	417	c.144 others(436): Show c.1444-3922_1444-3921insGGTCATGGAGGACACCCCGGTCATGG AGGACACCCGGTCAGGGAGGACACCCGGTCAGGGAGGACACCCGGTCATA GAGGACACCCGGTCATGGAGGACATCCCGGTCATGGAGGACACCCGGTCA TGGAGGACACCCCGGTCATGGAGGACACCCGGTCATGGAGGACACCCGGT CATAGAGGACACCCCAGTCAGGGAGGACACCCGGTCATAGAGGACACCCC GGTCATGGAGGACACCCCGGTCATGGAGGACACCCGGTCATAGAGGACAC CCCGGTCAGGGAGGACACCCGGTCATGGAGGACACCCGGTCATAGAGGAC ACCCCGGTCAGGGAGGACACCCGGTCATAGAGGACACCCCGGTCATGGAG GACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACACC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TNR_chr1_175310194_175748595	175650927	C C	CCTCATTA others(410): Show CCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCCCCATCTCATTA CTCCCCCCCACCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCCC CACCTCATTATTCCACCTTCCCCACCTCATTACTACCCCTCCCCACCTCA TTACTACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACCCCT CCCCATCTCATTACTCCCCCCCACCTCATTACTACCCCTCCCCATCTCAT TACTCCTCCTCCCCCATCTCATTACTACCTGTCCCCCACCTCCTTACTAC CCCTCCCCCACCTCATTACTACCCATCTCCCACCTCATTCCTCCTCCTCC CCACCTCATTACTACCCCTCTCCCACCTCATTACTACCCCTCCCCACCTC ATTACTACTCCTCCCCAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01361.hp2 others(8): Show HG00642.hp2 HG00741.hp2 HG01361.hp2 HG02976.hp1 NA18522.hp1 NA18747.hp1 NA18953.hp1 NA19007.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0002 a0001c0005 a0001c0009 others(3): Show a0001c0002 a0001c0005 a0001c0009 a0003c0001 a0004c0019 a0005c0011	a0001c0002t0001 a0001c0002t0027 a0001c0002t0062 others(8): Show a0001c0002t0001 a0001c0002t0027 a0001c0002t0062 a0001c0005t0007 a0001c0005t0069 a0001c0009t0017 a0003c0001t0005 a0003c0001t0010 a0004c0019t0029 a0005c0011t0011 a0005c0011t0015	a0001c0002t0001g0038 a0001c0002t0027g0002 a0001c0002t0062g0005 others(8): Show a0001c0002t0001g0038 a0001c0002t0027g0002 a0001c0002t0062g0005 a0001c0005t0007g0043 a0001c0005t0069g0069 a0001c0009t0017g0035 a0003c0001t0005g0019 a0003c0001t0010g0118 a0004c0019t0029g0042 a0005c0011t0011g0026 a0005c0011t0015g0032	11	132	0.0833	417	c.-16 others(438): Show c.-165+92298_-165+92299insATGGGGAGGAGTAGTAATGAGGTG GGGAGGGGTAGTAATGAGGTGGGAGAGGGGTAGTAATGAGGTGGGGAGGA GGAGGAATGAGGTGGGAGATGGGTAGTAATGAGGTGGGGGAGGGGTAGTA AGGAGGTGGGGGACAGGTAGTAATGAGATGGGGGAGGAGGAGTAATGAGA TGGGGAGGGGTAGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGT AGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGT GGGGAGGGGTAGTAATGAGGTGGGGAAGGTGGAATAATGAGGTGGGGAGG GGTAGTAATGAGATGGGGAGGAGTAGTAATGAGGTGGGGGGGAGTAATGA GATGGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTAATGAG	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(410): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGGG GGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGT TGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATAT AATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0001 a0004c0004t0002g0001	1	408	0.0025	417	c.-41 others(428): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATA ATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCT GGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGA TATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAAT TTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGG GGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(410): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATA TAATAATTTCTGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	408	0.0025	417	c.-41 others(428): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGA TATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAAT AATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTC TGGGGGAGGATGATATAATAATTTCTGGGGAAGTTGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGA TATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAAT TTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGG GGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(410): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATA TAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	408	0.0025	417	c.-41 others(428): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGA TATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAAT AATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTC TGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGG GGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG ATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGATATAATAATTTCTGGGGAGGTTGATATAATTTCTGG GGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(410): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGG TTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATA TAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGG GAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTA ATTTCTGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	408	0.0025	417	c.-41 others(428): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGA TATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAAT AATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTC TGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGG GGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG ATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTG GGGGAGGTTGATGTAATTTCTGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(410): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA GGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGGAACGAAAGAGTGA GGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGAGAGGA AGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAAGAGCG AGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAAGGAGGA AGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAA GGAAGGAGGAAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAG CGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0052 a0001c0003t0002g0052	1	268	0.0037	417	c.30+ others(434): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGG AACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGG AAGGGAGAGAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAG GAAGGAAAGAGCGAGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAG GAAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGA AGGGAAGGAGGAAGGAAGGAGGAAGGGAGCGAGAGAGGAAGGAAGGGAGG GAGAAAAGAAGAGCGAGGGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(410): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA GGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGGAACGAAAGAGTGA GGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGAGAGGA AGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAGGAAGGAAAGAGCG AGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAGGAAGGAAGGAGGA AGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAA GGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAG CGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00741.hp1 others(45): Show HG00323.hp1 HG00438.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02080.hp1 HG02145.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp2 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 NA18906.hp1 NA18944.hp2 NA18964.hp1 NA18979.hp2 NA18985.hp1 NA18988.hp2 NA19007.hp2 NA19043.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19078.hp2 NA19085.hp2 NA19088.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0012 a0001c0003t0001 a0001c0003t0003 a0001c0004t0003 a0001c0005t0003 a0001c0008t0002	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0033 others(45): Show a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0003g0016 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0005g0037 a0001c0001t0006g0019 a0001c0001t0008g0020 a0001c0001t0008g0032 a0001c0001t0008g0034 a0001c0001t0008g0038 a0001c0001t0008g0044 a0001c0001t0008g0049 a0001c0001t0016g0231 a0001c0001t0020g0228 a0001c0002t0001g0229 a0001c0002t0002g0024 a0001c0002t0002g0050 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0012g0163 a0001c0003t0001g0027 a0001c0003t0001g0041 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0003g0015 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0028 a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 a0001c0003t0003g0042 a0001c0003t0003g0043 a0001c0003t0003g0051 a0001c0003t0003g0057 a0001c0003t0003g0073 a0001c0003t0003g0230 a0001c0004t0003g0059 a0001c0005t0003g0021 a0001c0008t0002g0058	48	268	0.1791	417	c.30+ others(434): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAGGGAGGAAGGAAGGGAGGGAGGGAGAGGGAGAAAAGG AACGAAAGAGTGAGGAAGGAAGGAAAGAGGGAGGAAGGGAGGAAGGAAGG AAGGGAGAGAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAGCAAGGAAG GAAGGAAAGAGCGAGGAAGGAAGGAAAGAGCGAGGAAGGGAGGGAGGAAG GAAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGA AGGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGG GAGAAAAGAAGAGCGAGGGAGGGAGGGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(410): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	334	0.0030	417	c.657 others(432): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(410): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	334	0.0030	417	c.657 others(432): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(410): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTC CTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18982.hp1 NA19070.hp2 others(1): Show NA18947.hp1 NA18982.hp1 NA19070.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 others(1): Show a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234	4	334	0.0120	417	c.657 others(432): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TUBB2B_chr6_3219277_3232653	3222205	C C	CACTACCA others(410): Show CACTACCACTACCACCAACACAATCACCACCACGATCACCATCATCACCA CCACCACCACCACCACCACCACTACCACCATCATAATTACCACCACCATC ACCACCACCACCACCACTATCACCATCATCACCACCACCACCACCACTAG CACAACCACAACACTACCACATCACCACCACCACTACCACTACTACCATC ACCATCACCACCACCATCACCACCACCACCACAATACTACCACATCACCA CCACCACCATCATCATCACCACCACTACCACCACCACTACCACCACCACC ACCATCACTACTACCATCACCACCACCACCACCATCACCACCACCACGAC CACCACAACACTACCACATCACCACCACCACCACCACTACTACCACCACC ACCACCATCACCACTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	417	c.25 others(428): Show c.2545_*2546insAGTAGTGGTGATGGTGGTGGTGGTGGTAGTAGTG GTGGTGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTAGTAGTGATGGTGGTGGTGGTGGTAGTG GTGGTGGTAGTGGTGGTGATGATGATGGTGGTGGTGGTGATGTGGTAGTA TTGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTAGTAGTGGTA GTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTGGTGGTGGTGG TGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGATGGTGGTGGTAATT ATGATGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGATGATGGTGAT CGTGGTGGTGATTGTGTTGGTGGTAGTGGTAGT	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2071		chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870126	A A	ACACACCA others(410): Show ACACACCACACAAACCACACACCCCACACACACCACACACACCACACCCA CACACACCACACACCCCACACACACCACACACCCCCCACACACCACACCC CATACACACCACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCCCACACACACC ACACACCCCCCACACACCACACCCCATACACACCACACACCACACCCCAC ACACTCCACACCCCACACACACCACACCCCACACACACCACACACACCCC CCACACACCACACAAACCACACACCCCACACACACCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCATACCACACCACAC CCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	338	0.0030	417	c.35 others(436): Show c.35+21398_*35+21399insCACACAAACCACACACCCCACACACA CCACACACACCACACCCACACACACCACACACCCCACACACACCACACAC CCCCCACACACCACACCCCATACACACCACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCCACACACACCACACACCCCCCACACACCACACCCCATACACA CCACACACCACACCCCACACACTCCACACCCCACACACACCACACCCCAC ACACACCACACACACCCCCCACACACCACACAAACCACACACCCCACACA CACCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCATACCACACCACACCCCACACACACCACACCCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR86_chr7_151376124_151415038	151397799	A A	AAGAGGGT others(410): Show AAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGGGCATAGCG GGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTG TAGTGGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGA GGGTGTAGCGGGAGGAAGGGCATAGCGGGAGGAAGGGCATAGCGGGAGGA AGAGGGTGTAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGG GAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGCGT AGCAGGAGGAAGGGCATAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGGG TGTAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAA GGGCATAGCGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG02145.hp1 others(4): Show HG00280.hp1 HG00738.hp1 HG02145.hp1 HG02559.hp2 HG02922.hp2 HG03654.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0082 a0001c0001t0001g0206 a0001c0001t0001g0208 others(4): Show a0001c0001t0001g0082 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0247 a0001c0001t0001g0373 a0001c0001t0001g0413 a0001c0001t0004g0086	7	458	0.0153	417	c.306 others(434): Show c.306-1604_306-1603insCTTCCTCCCGCTATGCCCTTCCTCCCGC TACACCCTCTTCCTCCCGCTATGCCCTTCCTCCCGCTACACCCTCTTCCT CCCGCTATGCCCTTCCTCCCGCTATGCCCTTCCTCCTGCTACGCCCTCTT CCTCCCGCTACACCCTCTTCCTCCCGCTATGCCCTTCCTCCCGCTACACC CTCTTCCTCCCGCTATGCCCTTCCTCCCGCTACACCCTCTTCCTCCCGCT ATGCCCTTCCTCCCGCTATGCCCTTCCTCCCGCTACACCCTCTTCCTCCC GCTACACCCTCTTCCTCCCGCTATGCCCTTCCTCCCACTACACCCTCTTC CTCCCGCTACACCCTCTTCCTCCCGCTATGCCCTTCCTCCCGCTATGCCC TTCCTCCCGCTACACCCTCTTCCTCCCGCTACACCCTCT	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(411): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAA TGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGG TGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGG GTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGG GATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATA AATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0026 a0026	a0026c0056 a0026c0056	a0026c0056t0001 a0026c0056t0001	a0026c0056t0001g0041 a0026c0056t0001g0041	1	357	0.0028	418	c.278 others(437): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTATCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTA TCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCC ACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACTC ATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCC ATCCCACCCACTCATTTATCCATCCATCCCACCCCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCTCATTTA TGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ADAMTS3_chr4_72275969_72574221	72456246	A A	ATATAGTA others(411): Show ATATAGTATATATACTGTATATACTATATATATTTTATGTATAGTATATA TACTGTATATACTATATATATTTTATGTATAGTATATATACTGTATATAC TATATATATTTTATGTATAGTATATATACTGTATATACTATATATATTTT ATGTATAGTATATATACTGTATATACTATATATATTTTATGTATAGTATA TATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTATAT ACTATATATATTTTATGTATAGTATATATACTGTATATACTATATATATT TTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATAGTA TATATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTAT ATACTATATATATTTTATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	182	0.0055	418	c.505 others(437): Show c.505-41276_505-41275insCATAAAATATATATAGTATATACAGT ATATATACTATACATAAAATATATATAGTATATACAGTATATATACTATA CATAAAATATATATAGTATATACAGTATATATACTATACATAAAATATAT ATAGTATATACAGTATATATACTATACATAAAATATATATAGTATATACA GTATATATACTATACATAAAATATATATAGTATATACAGTATATATACTA TACATAAAATATATATAGTATATACAGTATATATACTATACATAAAATAT ATATAGTATATACAGTATATATACTATACATAAAATATATATAGTATATA CAGTATATATACTATACATAAAATATATATAGTATATACAGTATATATAC TATACATAAAATATATATAGTATATACAGTATATATACTATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGAAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	2	352	0.0057	418	c.51 others(429): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTTCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCT CCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	352	0.0028	418	c.51 others(429): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCC CCCTTCCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCC TCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTC CTCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCC TCCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCT CCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGACGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	352	0.0028	418	c.51 others(429): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCGTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCT CCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AAGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	418	c.51 others(429): Show c.5165_*5166insCCCTCCCCCCTCCCCTCTTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCT CCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(69): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02615.hp2 HG02723.hp1 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03540.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18939.hp1 NA18948.hp2 NA18951.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19074.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0024 a0001c0001t0026 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0005t0006 a0001c0011t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0168 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0111 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0198 a0001c0001t0003g0002 a0001c0001t0004g0005 a0001c0001t0004g0019 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0193 a0001c0001t0006g0008 a0001c0001t0006g0215 a0001c0001t0006g0219 a0001c0001t0007g0013 a0001c0001t0011g0183 a0001c0001t0016g0181 a0001c0001t0024g0092 a0001c0001t0026g0199 a0001c0001t0029g0098 a0001c0001t0033g0222 a0001c0001t0034g0221 a0001c0001t0037g0217 a0001c0002t0001g0004 a0001c0002t0002g0152 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0005t0001g0027 a0001c0005t0001g0066 a0001c0005t0006g0211 a0001c0011t0003g0167	72	352	0.2046	418	c.51 others(429): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCT CCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGGAGGGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	352	0.0028	418	c.51 others(429): Show c.5165_*5166insCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCTC CCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTC CCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCC CTCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCT CCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGGAA others(411): Show AGGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGGGG GAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGG GAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGG GAGGGAGGGGATGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAG GGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGG AGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	352	0.0028	418	c.51 others(429): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCCGTCCCCTCC TCCCCGCCCTCCCCTCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCTC CCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCC CTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCT CCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTC CTCCCCCCTCCCCTCCTCCCCCCATCCCCTCCCTCCCCCTCCTCCCCCCT CCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCTCCTCCCCCCTCC CCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCCCTCC CCTCCTCCCCCCCTCCCCTCCTCCCTCTTCCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(411): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCAC CCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTAC CTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTC ACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCA CCCTGCACCTCCCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA19085.hp2 HG00673.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0041 a0001c0001t0002 a0001c0001t0041	a0001c0001t0002g0175 a0001c0001t0041g0078 a0001c0001t0002g0175 a0001c0001t0041g0078	2	268	0.0075	418	c.-36 others(429): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCAATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCAC CTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTC CACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(411): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCAC CCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTAC CTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTC ACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCA CCCTGCACCTCCCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA19012.hp2 NA18946.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0039 a0001c0001t0002g0044	2	268	0.0075	418	c.-36 others(429): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCAC CTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTC CACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AHRR_chr5_316714_443285	394247	C C	CCTCCCCT others(411): Show CCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCC TCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCT GGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTG TCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTT CCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTG CTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCT TGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCT TTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTG TGCTGGAGCCCTCTTGTCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0261 a0001c0001t0060g0261	1	268	0.0037	418	c.351 others(437): Show c.351+17557_351+17558insGCCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGA GCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT CTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCT CCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTG GAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGT CTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTC CTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGC TGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL10_chr5_176360487_176386909	176371498	G G	GCCTGATA others(411): Show GCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCC CGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCT AAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTG TTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATT CCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGC CTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTG TGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATA TTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATA GCCTAAGAACAGTGTGTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0096 a0001c0002t0096	a0001c0002t0096g0093 a0001c0002t0096g0093	1	418	0.0024	418	c.562 others(431): Show c.562-71_562-70insCTGATATTCCCGGGGATAGCCTAAGAACAGTG TGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATA TTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATA GCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAG TGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGA TATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGA TAGCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAAC AGTGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCT GATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTC	ARL10	ENSG00000175414.7	transcript	ENST00000310389.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARSF_chrX_3036471_3117727	3036936	T T	TATATATA others(411): Show TATATATATTATATATAAAATATATATAATATATATAATATATATATTAT ATATAAAATATATATAATATATATATTATATATAAAATATATATAATATA TATAATATATATATTATATATAAAATATATATAATATATATATTATATAT AAAATATATATAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATAAAATATATATAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATAAAATATATATAATAT ATATAATATATATAATATATATAAAATATATATAATATATATAATATATA TATTATATATAAAATATATATCATATATATAATATATATATTATATATAA AATATATATCATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	193	0.0052	418	c.-47 others(429): Show c.-4756_-4755insATATATATTATATATAAAATATATATAATATATA TAATATATATATTATATATAAAATATATATAATATATATATTATATATAA AATATATATAATATATATAATATATATATTATATATAAAATATATATAAT ATATATATTATATATAAAATATATATAATATATATAATATATATATTATA TATAAAATATATATAATATATATAATATATATAAAATATATATAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA AAATATATATAATATATATAATATATATAATATATATAAAATATATATAA TATATATAATATATATATTATATATAAAATATATATCATATATATAATAT ATATATTATATATAAAATATATATCATATATATA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4534		chrX	TogoVar

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Search Results (Total: 10000 hits)