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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Select column to sort.

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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
GAL3ST2_chr2_241771822_241809287	241806532	A A	ACCCTCCC others(531): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAAC CCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	314	0.0032	538	c.23 others(549): Show c.2366_*2367insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCTCCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCA CCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2246		chr2	TogoVar
GPIHBP1_chr8_143208218_143222170	143211308	A A	AGGGAGGC others(531): Show AGGGAGGCGGGGCGTGGGGGAGGAGGGGTGAAGATGACGGGAGGCGGTGC ACGGGGGAGGCGGGGCACAGGAGAGGCGGGTCGACAGGGAGGTGGGACGC TGGGGAGAAGGGGCGAATGGGGGGCGGGGCGATGGGGAGGCGGGGTGTGG AGGAGGCGGGGCACCAGGGAAGCGGGACAGTGGGGGAGGCGGGGCGTGGG GTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGAAGCGGGGCGTGGGGGG AGGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGACGGGAA GTAGGGGCAGTGGGAGAGGCGGGGCGTGGGGTAGACAGGTGTGGGGGAGG CGGGGCACCAGGGAAGCGGGGCGTGGGGGGAGGCGGGGCGTGAGAGAGGC TGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGCGGGGCATGAGAGAGGCG GGGCAGTGGGGGAGGCGGGGCGTGAGAGGCGGGGCAGTGGGGGAGGCGGG GCGTGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	106	0.0094	538	c.-19 others(549): Show c.-1960_-1959insGGGAGGCGGGGCGTGGGGGAGGAGGGGTGAAGAT GACGGGAGGCGGTGCACGGGGGAGGCGGGGCACAGGAGAGGCGGGTCGAC AGGGAGGTGGGACGCTGGGGAGAAGGGGCGAATGGGGGGCGGGGCGATGG GGAGGCGGGGTGTGGAGGAGGCGGGGCACCAGGGAAGCGGGACAGTGGGG GAGGCGGGGCGTGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGAA GCGGGGCGTGGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAG GCGGGGCGACGGGAAGTAGGGGCAGTGGGAGAGGCGGGGCGTGGGGTAGA CAGGTGTGGGGGAGGCGGGGCACCAGGGAAGCGGGGCGTGGGGGGAGGCG GGGCGTGAGAGAGGCTGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGCGG GGCATGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGAGAGGCGGGGC AGTGGGGGAGGCGGGGCGTGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCA GTGG	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1909		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143211308	A A	AGGGAGGC others(531): Show AGGGAGGCGGGGCGTGGGGGAGGAGGGGTGAAGATGACGGGAGGCGGTGC ACGGGGGAGGCGGGGCACAGGAGAGGCGGGTCGACAGGGAGGTGGGACGC TGGGGAGAAGGGGCGAATGGGGGGCGGGGCGATGGGGAGGCGGGGTGTGG AGGAGGCGGGGCACCAGGGAAGCGGGACAGTGGGGGAGGCGGGGCGTGGG GTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGAAGCGGGGCGTGGGGGG AGGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGACGGGAA GTAGGGGCAGTGGGGGAGGCGGGGCGTGGGGTAGACAGGTGTGGGGGAGG CGGGGCACCAGGGAAGCGGGGCGTGGGGGGAGGCGGGGCGTGAGAGAGGC TGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGCGGGGCATGAGAGAGGCG GGGCAGTGGGGGAGGCGGGGCGTGAGAGGCGGGGCAGTGGGGGAGGCGGG GCGTGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG01258.hp1 others(16): Show HG00280.hp2 HG00558.hp2 HG01258.hp1 HG01952.hp1 HG01993.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02735.hp2 HG02922.hp2 HG03130.hp1 HG03453.hp2 NA18948.hp1 NA18951.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19064.hp2 NA20129.hp1	a0000 a0002 a0000 a0002	a0000c0006 a0002c0002 a0000c0006 a0002c0002	a0000c0006t0001 a0002c0002t0001 a0000c0006t0001 a0002c0002t0001	a0000c0006t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0015 others(1): Show a0000c0006t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0017	19	106	0.1793	538	c.-19 others(549): Show c.-1960_-1959insGGGAGGCGGGGCGTGGGGGAGGAGGGGTGAAGAT GACGGGAGGCGGTGCACGGGGGAGGCGGGGCACAGGAGAGGCGGGTCGAC AGGGAGGTGGGACGCTGGGGAGAAGGGGCGAATGGGGGGCGGGGCGATGG GGAGGCGGGGTGTGGAGGAGGCGGGGCACCAGGGAAGCGGGACAGTGGGG GAGGCGGGGCGTGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGAA GCGGGGCGTGGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAG GCGGGGCGACGGGAAGTAGGGGCAGTGGGGGAGGCGGGGCGTGGGGTAGA CAGGTGTGGGGGAGGCGGGGCACCAGGGAAGCGGGGCGTGGGGGGAGGCG GGGCGTGAGAGAGGCTGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGCGG GGCATGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGAGAGGCGGGGC AGTGGGGGAGGCGGGGCGTGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCA GTGG	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1909		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143211390	G G	GACAGGGA others(531): Show GACAGGGAGGTGGGACGCTGGGGAGAAGGGGCGAATGGGGGGCGGGGCGA TGGGGAGGCGGGGTGTGGAGGAGGCGGGGCACCAGGGAAGCGGGGCAGTG GGGGAGGCGGGGCGTGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGG GAAGCGGGGCGTGGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGGGG GAGGCGGGGCGACGGGAAGTAGGGGCAGTGGGGGAGGCGGGACGTGGGGT AGACAGGTGTGGGGGAGGCGGGGCACCAGGGAAGCGGGGCGTGGGGGGAG GCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGAGGGAGG CGGGGCATGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGAGAGGCGG GGCAGTGGGGGAGGCGGGGCGTGGGGGAGGCGGGGCGTGAGAGAGGCGGG GCAGTGGGGGAGGCGGGGCGTGGGGGAGGAGGGGTGAAGATGACGGGAGG CAGTGCACGGGGGAGGCGGGGCACAGGAGAGGCGGGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0004 a0001c0004t0003g0004	1	106	0.0094	538	c.-18 others(549): Show c.-1878_-1877insACAGGGAGGTGGGACGCTGGGGAGAAGGGGCGAA TGGGGGGCGGGGCGATGGGGAGGCGGGGTGTGGAGGAGGCGGGGCACCAG GGAAGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGTAGACAGGTGTGGGGG AGGCGGGGCACCAGGGAAGCGGGGCGTGGGGGGAGGCGGGGCGTGAGAGA GGCGGGGCAGTGGGGGAGGCGGGGCGACGGGAAGTAGGGGCAGTGGGGGA GGCGGGACGTGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGAAGC GGGGCGTGGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGC GGGGCGTGAGGGAGGCGGGGCATGAGAGAGGCGGGGCAGTGGGGGAGGCG GGGCGTGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGCGGGG CGTGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGAGGGGT GAAGATGACGGGAGGCAGTGCACGGGGGAGGCGGGGCACAGGAGAGGCGG GTCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1827		chr8	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATA others(531): Show TATATATAAATATATATTTATATTTATTTATAAATAAATATATATTAATA TATATTTATATTTATTTATTAATAAATATATATAAATATATATAAATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATAAATATATA TTTATATTTATTTATAAATATATATAAATATATATTTATATTTATTTATA AATATATATTTATATTTATTTATATATAAATATATATAAATCTATATTTA TAGTTATTTATATATAAATATATAAATCTATATATATAAATATAGATTTA TATATATTTATATATAAATAACTATAAATATAGATTTATATATATTTATA TATAAATAACTATAAATATAGATTTATATATATTTATATATAAATAACTA TATAGATTTATATATATTTATATATAAATAACTATATAGATTTATATATA TTTATATATAAATAACTATATAGATTTATATATATTTATATATAAATAAC TATATAGATTTATATATATTTATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	208	0.0048	538	c.-97 others(555): Show c.-97-2095_-97-2094insTAAATATATATTTATATTTATTTATAAA TAAATATATATTAATATATATTTATATTTATTTATTAATAAATATATATA AATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATAAATATATATTTATATTTATTTATAAATATATATAAATATATA TTTATATTTATTTATAAATATATATTTATATTTATTTATATATAAATATA TATAAATCTATATTTATAGTTATTTATATATAAATATATAAATCTATATA TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATAAATATAGATTTATATATATT TATATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTA TATAGATTTATATATATTTATATATAAATAACTATATAGATTTATATATA TTTATATATAAATAACTATATAGATTTATATATATTTATTTATAAATAAC TATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(531): Show TATATATTAATATATATTTATATTTATTTATAAATAAATATATATTAATA TATATTTATATTTATTTATTAATAAATATATATAAATATATATAAATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATAAATATATA TTTATATTTATTTATAAATATATATTTATATTTATTTATATATAAATATA TATAAATCTATATTTATAGTTATATATAAATATATAAATCTATATATATA AATATAGATTTATATATATTTATATATAAATAACTATAAATATAGATTTA TATATATTTATATATAAATAACTATAAATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TATATAAATAACTATATAGATTTATATATATTTATTTATAAATAACTATA AATATAGATTTATATATATTTATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	208	0.0048	538	c.-97 others(555): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATAAA TAAATATATATTAATATATATTTATATTTATTTATTAATAAATATATATA AATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATAAATATATATTTATATTTATTTATAAATATATATTTATATTTA TTTATATATAAATATATATAAATCTATATTTATAGTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATAAATATAGATTTATATATATTTATTTATAAATAAC TATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATA others(531): Show TATATATATGGAATATATATACGGAATATATATATACGGAATATATATAC GGAATGTATATACGGAATATATATACGGAATGTATATATATGGAATATAT ATACGGAATGTATATATATGGAATATATATACGGAATGTATATATATGGA ATATATATACGGAATGTATATATATGGAATATATATACGGAATGTATATA TATGGAATATATATACGGAATGTATATATATGGAATATATATACGGAATG TATATATATGGAATATATATACGGAATGTATATATATGGAATATATATAC GGAATGTATATATATGCAATATATATATATGGAATATATATATGCAATAT ATATATATGGAATATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0106	1	323	0.0031	538	c.-21 others(549): Show c.-2144_-2143insATATATATGGAATATATATACGGAATATATATAT ACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTAT ATATATGGAATATATATACGGAATGTATATATATGGAATATATATACGGA ATGTATATATATGGAATATATATACGGAATGTATATATATGGAATATATA TACGGAATGTATATATATGGAATATATATACGGAATGTATATATATGGAA TATATATACGGAATGTATATATATGGAATATATATACGGAATGTATATAT ATGGAATATATATACGGAATGTATATATATGCAATATATATATATGGAAT ATATATATGCAATATATATATATGGAATATATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(531): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18975.hp1 NA18957.hp2 NA18975.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0042 a0001c0007t0001g0149 a0001c0007t0001g0042 a0001c0007t0001g0149	2	282	0.0071	538	c.258 others(555): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAG AACCGGACCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCC TCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGA CCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCTC ACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(531): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCTCAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02486.hp2 HG02818.hp1 others(3): Show HG01074.hp1 HG02486.hp2 HG02818.hp1 HG02965.hp1 HG03453.hp1 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0005c0018 a0002c0001 a0005c0018	a0002c0001t0008 a0002c0001t0022 a0005c0018t0008 a0002c0001t0008 a0002c0001t0022 a0005c0018t0008	a0002c0001t0008g0020 a0002c0001t0008g0025 a0002c0001t0008g0052 others(3): Show a0002c0001t0008g0020 a0002c0001t0008g0025 a0002c0001t0008g0052 a0002c0001t0008g0067 a0002c0001t0022g0087 a0005c0018t0008g0227	6	282	0.0213	538	c.258 others(555): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCTCA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCTC ACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173157	T T	TCCCCCTC others(531): Show TCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCC TCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTC CCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCT CCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCC TCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCC CCTCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCC CCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCT CCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCC TCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCT CTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTC TCTCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0013 a0003c0002t0001g0013	1	158	0.0063	538	c.11 others(559): Show c.1103+4125_*1103+4126insCCCCTCCTTCCCTCTCTCTCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCC CCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTC TCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTC CCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCT GTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCC CCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTC CCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTC TCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCCTCTCTCTCTCTC CCCCTCCTTCCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	514222	T T	TCCTCTCT others(531): Show TCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCC CTCCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCTCTCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTCTCCTCCCTCTCCTCCCTCCCTC CCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCC TCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCTCTCCC TCCCTCCCTCCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCT CCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCT CCCTTCCTTCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCT CTCCCTCCCTCCCTTCCTTCCTCCCTTCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0219 a0011c0022t0001g0219	1	254	0.0039	538	c.-84 others(555): Show c.-84+9472_-84+9473insTCTCCCTTCCTCCCTCCCTCCCTCCCTT CCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTTCC TCCCTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCCTC CCTCTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCC CTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCT CCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCTCTCCCTCCCTCCCTCCCCTCTCTTCCTCCCTCCCTCCC TCCCTCCCTCTCTTCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCTCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTCTCTCCCTCCCTC CCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTCTC TCTCTCCCTC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(531): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCTCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCC CCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	312	0.0032	538	c.-41 others(553): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCTCCACAGCCACCCCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAG CCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCC CCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCCGCCCCCCCACAGC CACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAG CCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(531): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC GGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACACCCCCACCTCCGTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0042 a0001c0002t0012g0042	1	220	0.0046	538	c.957 others(555): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACACCCCCACCTCCGTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(531): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGACTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0036 a0001c0001t0011g0036	1	220	0.0046	538	c.957 others(555): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGAC TGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KDM2A_chr11_67114263_67263082	67222609	G G	GTGGCCGG others(531): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGAGGGGGCTGAC CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	220	0.0046	538	c.957 others(555): Show c.957+3266_957+3267insCCTCCCGGACGGGGCGGCTGGCCGGGCG AGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACACCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCA	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIF25_chr6_167992671_168050091	167997382	G G	GGGGGCGG others(531): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGGTG GGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGT GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGTG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGG GGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGG GAATCTGCAGAGGTGGGGGGTGGGGGAATCTGCAGAGATGGGGGGGTGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0349 a0003c0004t0005g0349	1	375	0.0027	538	c.-20 others(549): Show c.-2087_-2086insGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGG GAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTG CAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCA GAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGGTGGGGGAATCTGCAG AGATGGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		288		chr6	TogoVar
KIF3B_chr20_32272651_32340011	32322704	A A	ATATATAT others(531): Show ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATTTATATTTATATTTATT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0054 a0001c0002t0007g0054	1	242	0.0041	538	c.174 others(557): Show c.1749-4064_1749-4063insATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATTTATATTT ATATTTATTTAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LHPP_chr10_124456823_124619141	124471567	T T	TTTATATA others(531): Show TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATATATTTTTATATATATTTATATATATTTTTATATATATTTATA TATATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATG TATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATA TTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATA TATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGT TATATATATATTTATATATATAGTTATATATTTATATATATTTATATATA TTTATATATATATTTATATATTTATTTATATATATTTATATATGTATTTA TATATATTTATATATATTTATATGTATTTATATATATTTATATATATTTA TATATATATATATAAATATATTTATATATATAAATATAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	260	0.0039	538	c.125 others(555): Show c.125+9580_125+9581insTTATATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATATATTTTTATATATATTTATAT ATATTTTTATATATATTTATATATATTTATATATAGTTATATATATTTAT GTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTAT ATATATAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATATTTTTATATATATAGTTATATATATATTTATATATATAGTTATAT ATTTATATATATTTATATATATTTATATATATATTTATATATTTATTTAT ATATATTTATATATGTATTTATATATATTTATATATATTTATATGTATTT ATATATATTTATATATATTTATATATATATATATAAATATATTTATATAT ATAAATATAA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507824	G G	GGGGGTAG others(531): Show GGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAG GGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTGGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	260	0.0039	538	c.625 others(555): Show c.625-9356_625-9355insGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTCGGTGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTCGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507824	G G	GGGGGTAG others(531): Show GGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	260	0.0039	538	c.625 others(555): Show c.625-9356_625-9355insGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTCGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(531): Show CCACTTACTTACCTACTACATACCCGGGCCACTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0062 a0002c0003t0002g0062	1	296	0.0034	538	c.368 others(555): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGG TAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCGCTTAC others(531): Show CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	296	0.0034	538	c.368 others(555): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MBTPS1_chr16_84048763_84121942	84051532	C C	CCGTATGT others(531): Show CCGTATGTGGGTAAGGAGAGCTGCAAGGCGCATGTGGGTAAGGAGAGCTA CAAGGCCCGCATGTGCTTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGG AGAGCTACAAGGCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTG CTTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTACAAGGCCG CATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCTTAAGGAGAGCTGC AAGGCCGCATGTGGGTAAGGAGAGCTACAAGGCCGCATGTAGGTAAGGAG AGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATGTGGG TAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCAC ATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAA GGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAG AGCTACAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0287 a0001c0002t0009g0288 a0001c0002t0009g0287 a0001c0002t0009g0288	2	424	0.0047	538	c.29 others(549): Show c.2916_*2917insCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTG TAGCTCTCCTTACCCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGC GGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACC CACATGTGGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCT CCTTACCCACATGTGGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTG CAGCTCTCCTTACCTACATGCGGCCTTGTAGCTCTCCTTACCCACATGCG GCCTTGCAGCTCTCCTTAAGCACATGCGGGCCTTGTAGCTCTCCTTACCC ACATGCGGCCTTGTAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCC TTAAGCACATGCGGGCCTTGTAGCTCTCCTTACCCACATGCGGCCTTGTA GCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTAAGCACATGCGGG CCTTGTAGCTCTCCTTACCCACATGCGCCTTGCAGCTCTCCTTACCCACA TACG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2230		chr16	TogoVar
MCF2L_chr13_112964214_113104742	113033230	G G	GTGACGTG others(531): Show GTGACGTGAGTGGCCCCGTGACGTGAGTGGCCCCTGTGACATTAGTGGAC CCCGTGGCGTGAGTGGCCCCCATGGCGTGAGTGGCCCCCGTGGACGTGAG TGGCCCCCGTGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCCATGGCG TGGATGGCCCCCGTGACGTGAGTGGTCCCCGTGACATTAGTGGCCCCCAT GACGTGAGTGGCCCCATGACGTGAGTGGCCCCCGTGATGTGAGTGGCTCC CGTGACATGAGTGGCCCCTGTGACATTAGTGGCCCCCGTGATGTGAGTGG CCCCTGTGACATTAGTGGACCCCATGGCATGAGTGGCCCCATGACGTGAG TGGCCCCCGTGATGTGAGTGGCCCCCGTGACGTGAGTGGCCCCTGTGACA TTAGTGGACCCCGTGGCGTGAGTGGCCCCCGTGATGTGAGTGCCCCCATG ACGTGAGTGGCCCCCGGACATTAGTGGCCCCCCGTGACGTGAGTGGCCCC CGTGACATTAGTGGACCCCGTGGTCGTGAGTGGCCCCCA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0111 a0001c0003t0002g0111	1	116	0.0086	538	c.278 others(555): Show c.278+8488_278+8489insGTGACGTGAGTGGCCCCTGTGACATTAG TGGACCCCGTGGCGTGAGTGGCCCCCATGGCGTGAGTGGCCCCCGTGGAC GTGAGTGGCCCCCGTGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCCA TGGCGTGGATGGCCCCCGTGACGTGAGTGGTCCCCGTGACATTAGTGGCC CCCATGACGTGAGTGGCCCCATGACGTGAGTGGCCCCCGTGATGTGAGTG GCTCCCGTGACATGAGTGGCCCCTGTGACATTAGTGGCCCCCGTGATGTG AGTGGCCCCTGTGACATTAGTGGACCCCATGGCATGAGTGGCCCCATGAC GTGAGTGGCCCCCGTGATGTGAGTGGCCCCCGTGACGTGAGTGGCCCCTG TGACATTAGTGGACCCCGTGGCGTGAGTGGCCCCCGTGATGTGAGTGCCC CCATGACGTGAGTGGCCCCCGGACATTAGTGGCCCCCCGTGACGTGAGTG GCCCCCGTGACATTAGTGGACCCCGTGGTCGTGAGTGGCCCCCATGACGT GAGTGGCCCC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(531): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACAATATTATATATATTATATATAATATATATACATATTATATATATTA TATATATACATATATATGTATATATACATATATAATATGTATATATGTAT ATATATGTATAATATATATATTGTATATATATATTATACATATGTATATA TATATTATACATATATATATGTATAATATATATAATGTATATATATACAT ATTATATATTATATATAATATATACATATATATTATATATAATATATACA TATTATATATTATATATATAATATATATACATATTATATTATATATAATA TATATACATATTACATATATTATATATAATATATATACATATATAATATA TTATATATTATATATAATATATATAATATATAATATATATATAATATAAT ATATTATATATTATATATAATATATATAATATATAATATATTATATATTA TATATAATATATATAATATATAATATATTATATAATATA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19074.hp2 NA19062.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0272 a0001c0002t0001g0273	2	332	0.0060	538	c.262 others(557): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACAATATTATATATATTATATATAAT ATATATACATATTATATATATTATATATATACATATATATGTATATATAC ATATATAATATGTATATATGTATATATATGTATAATATATATATTGTATA TATATATTATACATATGTATATATATATTATACATATATATATGTATAAT ATATATAATGTATATATATACATATTATATATTATATATAATATATACAT ATATATTATATATAATATATACATATTATATATTATATATATAATATATA TACATATTATATTATATATAATATATATACATATTACATATATTATATAT AATATATATACATATATAATATATTATATATTATATATAATATATATAAT ATATAATATATATATAATATAATATATTATATATTATATATAATATATAT AATATATAATATATTATATATTATATATAATATATATAATATATAATATA TTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(531): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTATATATATTTTTATATATATAAAATCTTAT TTTATATATTATATATATATAAAATCTTATTTTATATATTATATATATAT AAAATCTTATTTTATATATTATATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0075 a0004c0005t0008g0075	1	330	0.0030	538	c.-5+ others(553): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATATAATATATAAAA TAAGATTTTATATATATATAATATATAAAATAAGATTTTATATATATATA ATATATAAAATAAGATTTTATATATATAAAAATATATATAAATATATATA AAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATAT ATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99589009	A A	ACATATAT others(531): Show ACATATATATGTTCATATATATACTCATATATATATGTTCATATATATAC TCATATATATGTTCATATATATACTCATATATATGTTCATATATATACTC ATATATATGTTCATATATATACTCATATATATGTTCATATATATACTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATGTTCATATATATATATGTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0136 a0005c0005t0001g0136	1	364	0.0028	538	c.394 others(553): Show c.394-611_394-610insTCATATATATATGTTCATATATATACTCAT ATATATGTTCATATATATACTCATATATATGTTCATATATATACTCATAT ATATGTTCATATATATACTCATATATATGTTCATATATATACTCATATAT ATGTTCATATATATTCATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATGTTCATATATATATATGTTCATATATATGTTCAT ATATATAC	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589032	C C	CTCATATA others(531): Show CTCATATATATATGTTCATGTATATTCATATATATATGTTCATATATATA TTCATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0272 a0002c0002t0002g0272	1	364	0.0028	538	c.394 others(553): Show c.394-611_394-610insTCATATATATATGTTCATGTATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(531): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0026 a0004c0004t0001g0026	1	364	0.0028	538	c.394 others(553): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(531): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0048 a0008c0008t0001g0048	1	364	0.0028	538	c.394 others(553): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(531): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0287 a0002c0002t0002g0287	1	364	0.0028	538	c.394 others(553): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(531): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATATATATTTATATATAAGTATATATATATATTTATATATA AGTATATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTATATATATATTTATATATAAGTATATATAAATATATATATT TATATATAAGTGTATATATATAAATATATATATTTATATATACGTATATA TAAATATATATATTTATATATAAGTATATATAAATATATATATTTATATA TAAGTATATATAAATATATATATTTATATATAAGTATATATAAATATATA TATTTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATA TATAAATATATATTTAAATATAAGTATATATAAATATATATTTAAATATA AGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATAAG TATATATATAAATATATATTTAAATATAAGTATATAGAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0007 a0006c0009t0007	a0006c0009t0007g0059 a0006c0009t0007g0059	1	326	0.0031	538	c.358 others(555): Show c.358+3412_358+3413insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATATATATTTATATATAAGTATATATATATA TTTATATATAAGTATATATATATATTTATATATAAGTATATATATAAATA TATATATTTATATATAAGTATATATATATTTATATATAAGTATATATAAA TATATATATTTATATATAAGTGTATATATATAAATATATATATTTATATA TACGTATATATAAATATATATATTTATATATAAGTATATATAAATATATA TATTTATATATAAGTATATATAAATATATATATTTATATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATA TAAGTATATATATAAATATATATTTAAATATAAGTATATATAAATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA TAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATAGAAA TATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241806532	A A	ACCCTCCC others(531): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAAC CCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0055	1	319	0.0031	538	c.-27 others(549): Show c.-2746_-2745insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCTCCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCTGCAGGCCA CCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2660		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8678099	A A	ATCCGTTC others(531): Show ATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCATCC ATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAG CCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCA TTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCCAT TCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG02004.hp1 HG03239.hp2 others(5): Show HG01106.hp2 HG02004.hp1 HG03239.hp2 NA18975.hp1 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0079 a0003c0003t0006 a0003c0003t0079	a0003c0003t0006g0167 a0003c0003t0006g0171 a0003c0003t0006g0178 others(5): Show a0003c0003t0006g0167 a0003c0003t0006g0171 a0003c0003t0006g0178 a0003c0003t0006g0182 a0003c0003t0006g0250 a0003c0003t0006g0307 a0003c0003t0006g0308 a0003c0003t0079g0204	8	366	0.0219	538	c.46 others(547): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCT ATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATC CATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCC ATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTGT CC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678099	A A	ATCCGTTC others(531): Show ATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCC ATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAGCCGT CCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCA TTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCCAT TCTTCCATCCTTCCATTCATTAGTTTATCCATCCTCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0083 a0003c0003t0083	a0003c0003t0083g0273 a0003c0003t0083g0273	1	366	0.0027	538	c.46 others(547): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCAT CCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCC ATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATC CATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCC ATCCGTCCATTCTTCCATCCTTCCATTCATTAGTTTATCCATCCTCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTGT CC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678099	A A	ATCCGTTC others(531): Show ATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCC ATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCAGCCGT CCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCA GCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGTCCATTCTT CCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0070 a0004c0004t0070	a0004c0004t0070g0113 a0004c0004t0070g0113	1	366	0.0027	538	c.46 others(547): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTT CCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCAT CCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCC ATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATC CATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCC GTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCACTTGT CC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTATGTAC others(531): Show CTATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCA GTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGT ATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATA CAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATAT ACACTATACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0198 a0001c0001t0002g0001 a0001c0001t0002g0198	3	362	0.0083	538	c.-75 others(557): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATAC AGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGT ATGTATACAGTATACATACTGCATACACAGTATACATACTGTGTATATAT ACGGTATACATACTGCATACACAGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACT GTGTATATATACGGTATACATACATACAGTATACATACATACAGTATACA TACATACAGTATACATGCTGTACACAGTATACATGCTGTACACAGTATAC ATGCTGTACATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(531): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTA TGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATA TATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	362	0.0028	538	c.-75 others(557): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCAT ACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACATACAGTATACATACATACAGTATACATACATACAGTATACATGC TGTACACAGTATACATGCTGTACACAGTATACATGCTGTACACAGTATAC ATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHSL2_chrX_71905845_72158286	72092752	T T	TAACTGCA others(531): Show TAACTGCATTAATACTTCTTTTTTTTTTATTTTTTATTTTTTTTTTTTTA TTTTTTTTTTATTTATTTATTTTTTTATTTTTTTTTTCTTTTCTTTTTTT TTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAG GTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAA TGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC CCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCA TGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTT GGTTTTTACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAGGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02109.hp2 HG02630.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0067 a0009c0010t0052 a0001c0001t0067 a0009c0010t0052	a0001c0001t0067g0148 a0009c0010t0052g0185 a0001c0001t0067g0148 a0009c0010t0052g0185	2	187	0.0107	538	c.281 others(557): Show c.281-39309_281-39308insTTTTTTTTTATTTTTTATTTTTTTTT TTTTATTTTTTTTTTATTTATTTATTTTTTTATTTTTTTTTTCTTTTCTT TTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTG TGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCC ACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCC CCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGT GTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGG TGTTTGGTTTTTACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAAC AATGATAGACTGGATTAGGAAAATGTGGCACATATACACCATGGAATACT ATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATG AAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACTGC ATTAATACTTCT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NXN_chr17_794310_984776	841393	C C	CGGAGAGC others(531): Show CGGAGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGG TCCACCCTGACCACGGAGCATCTCACACGGGCGAGCGGGTCCCCCCTGAC CACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCT CACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGA GCAGGTCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCC TCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGG AGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACAC GGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0004 a0001c0001t0019g0004	1	242	0.0041	538	c.361 others(557): Show c.361-15316_361-15315insCGTGTGAGATGCTCCATGGTCGGGAG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCC GGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGC TCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCATGGTCGGG AGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGA TGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCATGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCCGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGG GACCTGCTCTCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCACCCT others(531): Show TCCACCCTGACCACGGAGCATCTCACACGGGCGAGCGGGTCCCCCCTGAC CACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCT CACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGA GCAGGTCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCC TCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGG AGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACAC GGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAGCAGGT CCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	242	0.0041	538	c.361 others(557): Show c.361-15366_361-15365insGACCTGCTCGCCCGTGTGAGATGCTC CATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGG GACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCC CGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGC TCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCATGGTCGGG AGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGA TGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCATGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCT GCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCCGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGTGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841514	A A	AGCAGGTC others(531): Show AGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACC CTGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCG CATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCAC GGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCTCAT GCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAG GTCCACCCTGACCACGGCGCATCTCACATGGGCGAGCAGGTCCACCCTGA CCACAGCGCATCTCACATGGGCGAGCAGGTCCACCCTGACCACGGCGCAT CTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCG AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0172 a0001c0001t0006g0172	1	242	0.0041	538	c.361 others(557): Show c.361-15437_361-15436insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC CCGTGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCATGTG AGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCCATGTGAGATGCGCCGT GGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGA CCTGCTCGCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCG TGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTCGGGG GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGAT GCGCTGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTC GGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841574	A A	AGCATCTC others(531): Show AGCATCTCACACGGGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACAC GGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGG TCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACC ACAGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACCCGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGA GCAGGTCCTCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCTCCC GACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCA CGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCA CCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGG CGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp1 HG02071.hp1 HG01081.hp1 HG01433.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0070 a0001c0001t0003g0193 a0001c0001t0005g0161 a0001c0001t0003g0070 a0001c0001t0003g0193 a0001c0001t0005g0161	3	242	0.0124	538	c.361 others(557): Show c.361-15497_361-15496insGCCGTGGTCGGGGGGACCTGCCTGTG GGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGG GGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAG ATGCTCCATGGTCGGGAGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGT CGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCT GCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTG TGAGATGCGCTGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCT GTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCC CGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(531): Show AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCC CGACCACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGAG CATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACGCCG GCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACG GCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCA GGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCG AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	242	0.0041	538	c.361 others(557): Show c.361-15514_361-15513insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGT GGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGG GGGACCTGCTCGCCGGCGTGAGATGCTCTGTGGTCGGGGGGACCTGCTCG CCCGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGA TGCTCTGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR6J1_chr14_22625929_22649352	22637544	C C	CCAGCCGC others(531): Show CCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGG AGGTGGGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	362	0.0028	538	c.-27 others(555): Show c.-27-2707_-27-2706insCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGGTGGCCGGCCGGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGCTGA CCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGAC GGGGCGGCTG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(531): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGGTCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGG TGGGGGGATCAGCCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	362	0.0028	538	c.-27 others(555): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCACCTCCCTCCCG GACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(531): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCCGGGCCGGCCGCGCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	362	0.0028	538	c.-27 others(555): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGCGCGGCCGGCCCGGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCACCACCTCCCTCCCG GACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(531): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCCGCCCGGCC AGCCGCCCCGTCTGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	362	0.0028	538	c.-27 others(555): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCAG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCACCACCTCCCTCCCG GACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(531): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCCGCCCGGCCGGGCCGCCCAGTCTGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	362	0.0028	538	c.-27 others(555): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACTGGGCGGCCCGGCCGGGCGGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG GACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(531): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGGTCAGCCCCCGCCCGGCCGGCCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGGAG GTGGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0096 a0001c0001t0044g0096	1	362	0.0028	538	c.-27 others(555): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGGCT GATCCCCCCACCTCCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGGCCGGCCGGGCGGGGGCT GACCCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG GACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar

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Search Results (Total: 10000 hits)