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
ENOX1_chr13_43208130_43791972	43416191	A A	ATCCCAGA others(404): Show ATCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAG AGGCGCTCCCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCAC TTCCCAGATGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGG GGCGGCCAGGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCGGACAG AAGCGCTCCTCACATCTCAGACGGGGCGGCCGGGCAGAGATGCTCCCCAC TTCCCAGACGGGGCGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGG CAGCCGGACAGAAGCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAG GCGCTCCCCATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02622.hp2 others(5): Show HG01109.hp1 HG02055.hp2 HG02622.hp2 HG02886.hp1 HG03195.hp2 HG03209.hp2 NA19030.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0011 a0001c0001 a0001c0002 a0003c0011	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0002t0001 a0001c0002t0006 a0003c0011t0004	a0001c0001t0004g0071 a0001c0001t0006g0141 a0001c0001t0011g0165 others(5): Show a0001c0001t0004g0071 a0001c0001t0006g0141 a0001c0001t0011g0165 a0001c0001t0014g0110 a0001c0001t0014g0117 a0001c0002t0001g0016 a0001c0002t0006g0169 a0003c0011t0004g0119	8	188	0.0426	411	c.-74 others(428): Show c.-74-3204_-74-3203insGATGGGGAGCGCCTCTGCCCGGCTGCCC CGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCTGCCCCATCTGGGAAGTG AGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAGCATCTCTG CCCGGCCGCCCCGTCTGAGATGTGAGGAGCGCTTCTGTCCGGCCGCCCCA TCTGGGAAGTGGGGAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGG GAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTG CCCGGCCACCCCGTCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCG TCTGGGAGATGGGGAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTG AGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416191	A A	ATCCCAGA others(404): Show ATCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATG GGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAG AGGCGCTCCCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCAC TTCCCAGATGATGGGTGGCCGGGCAGAGGTGCTCCCCATCTCCCAGACGG GGCGGCCAGGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCGGACAG AAGCGCTCCTCACATCCCAGACGGGGCGGCCGGGCAGAGATGCTCCCCAC TTCCCAGACGGGGCGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGG CAGCCGGACAGAAGCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAG GCGCTCCCCATC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02080.hp2 HG03239.hp1 others(5): Show HG00738.hp2 HG02080.hp2 HG03239.hp1 NA18959.hp2 NA18970.hp2 NA18977.hp2 NA19063.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0074 others(5): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0074 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0004g0122 a0001c0001t0017g0054	8	188	0.0426	411	c.-74 others(428): Show c.-74-3204_-74-3203insGATGGGGAGCGCCTCTGCCCGGCTGCCC CGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCTGCCCCATCTGGGAAGTG AGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAGCATCTCTG CCCGGCCGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCCGCCCCA TCTGGGAAGTGGGGAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGG GAGCACCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTG CCCGGCCACCCCGTCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCG TCTGGGAGATGGGGAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTG AGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416199	C C	CGGGGCGG others(404): Show CGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATGGGTGGCCG GGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAGAGGCGCTC CCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCACTTCCCAGA TGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCGGCCA GGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCAGACAGAAGCGCTC CTCACATCTCAGACGGGGCGGCCGGGCAGAGATGCTCCCCACTTCCCAGA CGGGGCGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCAGCCGGA CAGAAGCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCC CATCTCCCAGAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp2 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0020 a0001c0001t0009 a0001c0001t0020	a0001c0001t0009g0072 a0001c0001t0020g0007 a0001c0001t0009g0072 a0001c0001t0020g0007	2	188	0.0106	411	c.-74 others(428): Show c.-74-3212_-74-3211insATCTGGGAGATGGGGAGCGCCTCTGCCC GGCTGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCTGCCCCATCT GGGAAGTGAGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAG CATCTCTGCCCGGCCGCCCCGTCTGAGATGTGAGGAGCGCTTCTGTCTGG CCGCCCCATCTGGGAAGTGGGGAGCATCTCTGCCTGGCCGCCCCGTCTGG GAGATGGGGAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAG CACCTCTGCCCGGCCACCCCGTCTGGGAAGTGGGGAGCGCCTCTGCCCGG CTGCCCCGTCTGGGAGATGGGGAGCGCCTCTGCCCGGCCACCCATCATCT GGGAAGTGAGGAGCGCCTCTGCCCGGCCGCCCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416199	C C	CGGGGCGG others(404): Show CGGGGCGGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGATGGGTGGCCG GGCAGAGGCGCTCCCCATCTCCCAGACGGGGCAGCCGGGCAGAGGCGCTC CCCACTTCCCAGACGGGGTGGCCGGGCAGAGGTGCTCCTCACTTCCCAGA TGATGGGTGGCCGGGCAGAGGCGCTCCCCATCTCCCAGACGGGGCGGCCA GGCAGAGATGCTCCCCACTTCCCAGATGGGGCGGCCGGACAGAAGCGCTC CTCACATCTCAGACGGGGCGGCCGGGCAGAGATGCTCCCCACTTCCCAGA CGGGGCGGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCAGCCGGA CAGAAGCGCTCCTCACATCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCC CATCTCCCAGAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp2 HG01891.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0109 a0001c0002t0001g0078 a0001c0002t0001g0109	2	188	0.0106	411	c.-74 others(428): Show c.-74-3212_-74-3211insATCTGGGAGATGGGGAGCGCCTCTGCCC GGCTGCCCCGTCTGGGATGTGAGGAGCGCTTCTGTCCGGCTGCCCCATCT GGGAAGTGAGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAAGTGGGGAG CATCTCTGCCCGGCCGCCCCGTCTGAGATGTGAGGAGCGCTTCTGTCCGG CCGCCCCATCTGGGAAGTGGGGAGCATCTCTGCCTGGCCGCCCCGTCTGG GAGATGGGGAGCGCCTCTGCCCGGCCACCCATCATCTGGGAAGTGAGGAG CACCTCTGCCCGGCCACCCCGTCTGGGAAGTGGGGAGCGCCTCTGCCCGG CTGCCCCGTCTGGGAGATGGGGAGCGCCTCTGCCCGGCCACCCATCATCT GGGAAGTGAGGAGCGCCTCTGCCCGGCCGCCCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
FGL1_chr8_17859389_17900524	17883094	G G	GTAATATA others(404): Show GTAATATATTAAATATATAATATATATCATATGTAATATATTAAATATAT AATATATATCATATGTAATATATTAAATATATAATATATATCATATGTAA TATATTAAATAATATATAATATATAGCATATGTAATATATTAAATAATAT ATAATATATAGCATATATAATATATTAAATAATATATAATATATAGCATA TGTAATATATTAAATAATATATAATATATAGCATATATAATATATTAAAT AATATATAATATATAGCATATATAATATATTAAATAATATATAATATATA GCATATATAATATATTAAATAATATATAATATATAGCATATATAATATAT TAAATAATATATAATATATAGCATATATAATATATTAAATAATATATAAT ATATAGCATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0057 a0006c0006t0001g0057	1	366	0.0027	411	c.64- others(424): Show c.64-916_64-915insTATATGCTATATATTATATATTATTTAATATA TTATATATGCTATATATTATATATTATTTAATATATTATATATGCTATAT ATTATATATTATTTAATATATTATATATGCTATATATTATATATTATTTA ATATATTATATATGCTATATATTATATATTATTTAATATATTATATATGC TATATATTATATATTATTTAATATATTACATATGCTATATATTATATATT ATTTAATATATTATATATGCTATATATTATATATTATTTAATATATTACA TATGCTATATATTATATATTATTTAATATATTACATATGATATATATTAT ATATTTAATATATTACATATGATATATATTATATATTTAATATATTACAT ATGATATATATTATATATTTAATATATTA	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(404): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGA GGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0301 a0001c0001t0004g0301	1	370	0.0027	411	c.39 others(422): Show c.3959_*3960insTCTCCCTCTCCCTCTCCCTCTCCCTCTCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCC CTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCT CCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCT CTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCGTCTCCCTCTCCCTCTC CCCGTCTCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCC GTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FOXJ3_chr1_42171548_42340235	42222046	G G	GAGAAGGA others(404): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAA GAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGC AGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAG AAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAA GAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGC AGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAG AAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAA GCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGA AGAAGAAGAAGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	332	0.0030	411	c.528 others(428): Show c.528+5836_528+5837insGCTTCTTCTTCTTCTGCTTCTTCTTCTT CTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCT TCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTC TTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTG CTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCT TCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTCCTGCTTCTTCTTC TCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTG CTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXJ3_chr1_42171548_42340235	42222049	A A	AAGGAGAA others(404): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGCAGGAGAAGAA GAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGC AGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAG AAGAAGAAGCAGGAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAA GAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGC AGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAG AAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAA GCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGA AGAAGAAGAAGC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0220 a0001c0001t0009g0220	1	332	0.0030	411	c.528 others(428): Show c.528+5833_528+5834insGCTTCTTCTTCTTCTGCTTCTTCTTCTT CTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCT TCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTC TTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTG CTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCT TCTTCTTCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTC TCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTG CTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCT TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(404): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCAC ACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCC CACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGT GCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGC CCCTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	422	0.0024	411	c.31 others(422): Show c.3138_*3139insGGGAGGGGAGGGGCGGGGCGGCACGGGGCCAGGG GCACCCACACGGGCAGCACGGGGGGGGCACGGGGGAGGGGACAGCCACAC GGGCAGCATGGGGGGGGCATGGGGAGTGGGCAGCCACACGGGCAGCACGG GGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGG GGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGCA CGGGGCCGGGGGCAGCCACACGGGCAGTGTGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
ICA1_chr7_8108184_8267167	8152562	A A	ACCATCTC others(404): Show ACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCTTC CACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTA TCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACC ATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCAC CACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCA CCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACC ATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCATCACCTC CACCACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCA TCACCATCACCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	274	0.0037	411	c.804 others(428): Show c.804+4553_804+4554insAGGTGATGGTGATGGTGATAGTGGTGGG GGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAG GTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGT GGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGA TGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATG GTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGT GGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGG TAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152787	A A	ACCTCCTC others(404): Show ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCTTCCACC ACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTT CACCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCA CCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATC ACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCAC CACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCA TCACCATCACCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 NA19240.hp2 HG02258.hp1 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0002t0008 a0001c0004t0004 a0001c0002t0003 a0001c0002t0008 a0001c0004t0004	a0001c0002t0003g0131 a0001c0002t0008g0132 a0001c0004t0004g0254 a0001c0002t0003g0131 a0001c0002t0008g0132 a0001c0004t0004g0254	3	274	0.0110	411	c.804 others(428): Show c.804+4328_804+4329insAGGTGATGGTGATGGTGATAGTGGTGGG GGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGG AGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATG GTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGA GGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGG TGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATG GTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGA GGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGG TGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322245	T T	TGGAATAT others(404): Show TGGAATATATATATGGAATACATATATGGAATATATATATATGGAATATA TATATGCAATATATATATATGGAATATATATATGGAATATATATAGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATACATGGAATATATGTATATGGAATATAT ACATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGA ATATATACATGGAATATATGTATATGGAATATATACATGGAATATATATA TGGAATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	323	0.0031	411	c.-28 others(422): Show c.-2811_-2810insGGAATATATATATGGAATACATATATGGAATATA TATATATGGAATATATATATGCAATATATATATATGGAATATATATATGG AATATATATAGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATACATGGAATATAT GTATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGA ATATATGTATATGGAATATATACATGGAATATATGTATATGGAATATATA CATGGAATATATATATGGAATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2724		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322340	T T	TATGCAGT others(404): Show TATGCAGTATATATATATGAATATATATATGGAATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATGTGGAATATATATATGGAATATATATATGGAATATATATGTGGAAT ATATATATGGAATATATATATATGTGGAATATATATATGGAATATATATA TATGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAAT ATATACATGGAATATGTGTATATGGAATATATACATGGAATATATGTATA TGGAATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0206 a0002c0002t0006g0206	1	323	0.0031	411	c.-27 others(422): Show c.-2716_-2715insATGCAGTATATATATATGAATATATATATGGAAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATGTGGAATATATATATGGAATATATATATGGA ATATATATGTGGAATATATATATGGAATATATATATATGTGGAATATATA TATGGAATATATATATATGTGGAATATATATATGGAATATATATATATGT GGAATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAAT ATATGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACA TGGAATATATGTATATGGAATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2629		chr21	TogoVar
INS_chr11_2154779_2166209	2161948	C C	CACCCCTG others(404): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCCACACCCCTGTCCCCCGG ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGGA CCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	411	c.-79 others(420): Show c.-799_-798insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCT GGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCT GGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		740		chr11	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(404): Show TATAAATATATAAATATATGAATATATAAAATATATAAATATATAAATAT ATATAAATAAATATATAAATATATACAAATATATAAATAAATATATAAAT ATATAAATATAAATATATATTTATAGATATATAGATTTTACGTTTAAAAT ATATATTTTATAGATTTTATATTTAAAATATATATTTATAGATTTTATAT TTAAAAATATATTTTATATATTTTATACATAAAATATAATATATAAAATA TATAAATCATATAAAATTTATATTTTATGTATAAATATAAATGAATATAA AAATATATTATATGTTATATATTATATATTATTATGTTATATATTATATA TTATTATATTATATATATTATAATATGTATTATATTATATATTATATAAT ATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	389	0.0026	411	c.-51 others(422): Show c.-5160_-5159insATAAATATATAAATATATGAATATATAAAATATA TAAATATATAAATATATATAAATAAATATATAAATATATACAAATATATA AATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGA TTTTACGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATAT TTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAAT ATAATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAA TATAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTAT GTTATATATTATATATTATTATATTATATATATTATAATATGTATTATAT TATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATACATA others(404): Show TATACATATATAAATATATGAATATATAAAATATATAAATATATAAATAT ATATAAATAAATATATAAATATATACAAATATATAAATAAATATATAAAT ATATAAATATAAATATATATTTATAGATATATAGATTTTACATTTAAAAT ATATATTTTATAGATTTTATATTTAAAATATATATTTATAGATTTTATAT TTAAAAATATATTTTATATATTTTATACATAAAATATAATATATAAAATA TATAAATCATATAAAATTTATATTTTATGTATAAATATAAATGAATATAA AAATATATTATATGTTATATATTATATATTATTATGTTATATATTATATA TTATTATATTATATATATTATAATATGTATTATATTATATATTATATAAT ATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 NA18522.hp2 HG00741.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0064 a0001c0001t0008 a0001c0001t0064	a0001c0001t0008g0291 a0001c0001t0064g0029 a0001c0001t0008g0291 a0001c0001t0064g0029	2	389	0.0051	411	c.-51 others(422): Show c.-5160_-5159insATACATATATAAATATATGAATATATAAAATATA TAAATATATAAATATATATAAATAAATATATAAATATATACAAATATATA AATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGA TTTTACATTTAAAATATATATTTTATAGATTTTATATTTAAAATATATAT TTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAAT ATAATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAA TATAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTAT GTTATATATTATATATTATTATATTATATATATTATAATATGTATTATAT TATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATACATA others(404): Show TATACATATATAAATATATGAATATATAAAATATATAAATATATAAATAT ATATAAATAAATATATAAATATATACAAATATATAAATAAATATATAAAT ATATAAATATAAATATATATTTATAGATATATAGATTTTACGTTTAAAAT ATATATTTTATAGATTTTATATTTAAAATATATATTTATAGATTTTATAT TTAAAAATATATTTTATATATTTTATACATAAAATATAATATATAAAATA TATAAATCATATAAAATTTATATTTTATGTATAAATATAAATGAATATAA AAATATATTATATGTTATATATTATATATTATTATGTTATATATTATATA TTATTATATTATATATATTATAATATGTATTATATTATATATTATATAAT ATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(120): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0009 a0004c0008 others(1): Show a0001c0001 a0001c0009 a0004c0008 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0036 a0001c0001t0042 a0001c0001t0044 a0001c0001t0049 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0009t0006 a0004c0008t0050 a0005c0006t0006	a0001c0001t0001g0014 a0001c0001t0001g0196 a0001c0001t0001g0197 others(116): Show a0001c0001t0001g0014 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0043 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0285 a0001c0001t0002g0367 a0001c0001t0003g0022 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0003g0089 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0004g0019 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0006g0002 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0032 a0001c0001t0006g0057 a0001c0001t0007g0227 a0001c0001t0009g0034 a0001c0001t0010g0008 a0001c0001t0015g0075 a0001c0001t0017g0049 a0001c0001t0017g0078 a0001c0001t0018g0315 a0001c0001t0026g0128 a0001c0001t0026g0129 a0001c0001t0036g0235 a0001c0001t0042g0303 a0001c0001t0044g0334 a0001c0001t0049g0302 a0001c0001t0059g0040 a0001c0001t0061g0046 a0001c0001t0063g0323 a0001c0001t0065g0151 a0001c0001t0066g0062 a0001c0001t0068g0084 a0001c0001t0070g0093 a0001c0001t0071g0031 a0001c0009t0006g0021 a0004c0008t0050g0318 a0005c0006t0006g0035	123	389	0.3162	411	c.-51 others(422): Show c.-5160_-5159insATACATATATAAATATATGAATATATAAAATATA TAAATATATAAATATATATAAATAAATATATAAATATATACAAATATATA AATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGA TTTTACGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATAT TTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAAT ATAATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAA TATAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTAT GTTATATATTATATATTATTATATTATATATATTATAATATGTATTATAT TATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNQ2_chr20_63395208_63477655	63442656	C C	CCATCACC others(404): Show CCATCACCACCACCACCATCACCATCACCACCACCACCACCATCACCACC ATCACCACCATCACCACCACCACCACCATCACCACCATCACCATCACCAC CATCACCATCACCACCATCACCATTACCACCACCATTACCACCACCATCA CCATCACCATCACCACCACCACCACCACCATCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCACCAC CACCACCATCACCACCATCACCACCATCACCACCACCACCACCATCACCA CCATCACCATCACCACCATCACCATCACCACCATCACCATTACCACCACC ATTACCACCACCATCACCATCACCATCACCACCACCACCACCATCACCAT CACCACCACCAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0059 a0002c0001t0059	a0002c0001t0059g0042 a0002c0001t0059g0042	1	330	0.0030	411	c.691 others(426): Show c.691-126_691-125insATGGTGGTGGTGATGGTGATGGTGGTGGTG GTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGAT GGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGG TGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGATGGTGATGGTGGTGGTGGTGATG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442671	C C	CCATCACC others(404): Show CCATCACCATCACCACCACCACCACCACCATCACCACCATCACCACCATC ACCACCACCACCACCATCACCACCATCACCATCACCACCATCACCATCAT CACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCA CCACCACCACCACCACCACCATCACCATCACCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCACCATCACCACCATCACCACCACCACCACCATCACCACCATCACCA TCACCACCATCACCATCACCACCATCACCATTACCACCACCATTACCACC ACCATCACCATCACCATCACCACCACCACCACCATCACCATCACCACCAC CATCACCATTAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0067 a0002c0001t0008g0067	1	330	0.0030	411	c.691 others(426): Show c.691-141_691-140insATAATGGTGATGGTGGTGGTGATGGTGATG GTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGT AATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGG TGGTGGTAATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGGTG ATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGGTGATGGTGATG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(404): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCA TCACCACCACCACCACCATCACCACCATCACCATCACCACCATCACCATC ACCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCAT CACCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCA CCACCATCACCACCATCACCACCACCACCATCACCATCACCACCACCATC ACCATTATCACCACCACCATCACCACCATCACCATCACCACCATCACCAT CACCATCACCAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0114 a0002c0001t0001g0114	1	330	0.0030	411	c.691 others(426): Show c.691-243_691-242insGTGGTGATGGTGATGGTGATGGTGGTGATG GTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGT GATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGG TGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTG GTGGTAATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GATGGTGATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(404): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACCAT CACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCA CCACCATCACCACCACCACCACCATCACCACCATCACCATCACCACCATC ACCATCACCACCATCACCATTACCACCACCATTACCACCACCATCACCAT CACCATCACCACCACCACCACCATCACCATCACCACCACCATCACCATTA TCACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACC ACCATCACCATTATCACCACCACCATCACCACCATCACCATCACCACCAT CACCATCACCAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp1 HG03139.hp2 others(2): Show HG02451.hp2 HG02809.hp1 HG03139.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0012 a0002c0001t0006 a0002c0001t0009 others(1): Show a0001c0002t0012 a0002c0001t0006 a0002c0001t0009 a0002c0001t0020	a0001c0002t0012g0098 a0002c0001t0006g0095 a0002c0001t0009g0086 others(2): Show a0001c0002t0012g0098 a0002c0001t0006g0095 a0002c0001t0009g0086 a0002c0001t0009g0257 a0002c0001t0020g0099	5	330	0.0152	411	c.691 others(426): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GATGGTGATGGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(404): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCTACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCA CCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAA GATCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0153 a0001c0001t0153	a0001c0001t0153g0108 a0001c0001t0153g0108	1	398	0.0025	411	c.64+ others(428): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGAT GGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTTTCG GGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGT TGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTAGGGGGGTGGAGA GGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	167997407	G G	GGGGTCGG others(404): Show GGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGG GGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGA ATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	375	0.0027	411	c.-20 others(422): Show c.-2062_-2061insGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTG CAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGA GATGGGGTCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		263		chr6	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(404): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCA CTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	411	c.-27 others(422): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(404): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCA CTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	411	c.-27 others(422): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LHPP_chr10_124456823_124619141	124506792	T T	TGGGGGGG others(404): Show TGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG GGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGG GGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGG GGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGG GTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	260	0.0039	411	c.624 others(428): Show c.624+8664_624+8665insGGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGG GGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LY75_chr2_159798355_159909756	159874289	T T	TATATAAA others(404): Show TATATAAATATATATATGTTTTGTAAATATATAAATATATATTTTGTAAA TATATATATTTTGTAAATATATATTGTAAATATATATAAATATATATTTT GTGAATTATATATATATTGTAAATTATATATATATTTTGTAAATATATAT AGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAATATATA TATTTTGTAAATATGTATATATATTTTGTAAATATATACATTTTGTAAAT ATATAAATATATACATTTTGTAAATATATAAAAATATATACATTTTGTAA ATATATAAAAATATATGTTGTAAATATATAAAAATATATATATTTTGTAA ATATATAAATATATATATTTTGTAAATATATATATATTTTGTAAATATAT ATAAATATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0230 a0009c0012t0001g0230	1	330	0.0030	411	c.197 others(430): Show c.1974+1154_1974+1155insGTATATATTTATATATATTTACAAAA TATATATATATTTACAAAATATATATATTTATATATTTACAAAATATATA TATTTTTATATATTTACAACATATATTTTTATATATTTACAAAATGTATA TATTTTTATATATTTACAAAATGTATATATTTATATATTTACAAAATGTA TATATTTACAAAATATATATACATATTTACAAAATATATATATTTACAAA ATATATATACATATTTACAAAATATATATATTTACTATATATATTTACAA AATATATATATAATTTACAATATATATATAATTCACAAAATATATATTTA TATATATTTACAATATATATTTACAAAATATATATATTTACAAAATATAT ATTTATATATTTACAAAACATATATATATTTATAT	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(404): Show TATAATTATCTGTAATTTTATATAGTTATATATAATTATCTGTAATTTTA TATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTATA CGTAGTTTTACATAGTTATATAGTTATAACTATATGTAGTTATATATAAT TATATATAATTATATATAATTTATATACTTATAAATATGTAATTATATAT GTTATAATTATAAATATATATAATATAAATATACAATACATTTTATATAA TATATAATATATAGTATAATACAAAATATACATTATAATATATTATATAA AAATATTATAATATATAATAATATATATTATATTATATATAATATATATA ATATAATATATATTATATATAGTATAATATATATATTATAATTTATACTA TATATAATATAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02071.hp1 HG03669.hp1 others(8): Show HG00544.hp2 HG02071.hp1 HG03669.hp1 HG03710.hp1 NA18947.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18981.hp2 NA18988.hp1 NA19088.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0010 a0021 a0026 a0058	a0001c0003 a0002c0028 a0004c0118 others(6): Show a0001c0003 a0002c0028 a0004c0118 a0006c0004 a0006c0024 a0010c0014 a0021c0011 a0026c0062 a0058c0119	a0001c0003t0001 a0002c0028t0001 a0004c0118t0001 others(6): Show a0001c0003t0001 a0002c0028t0001 a0004c0118t0001 a0006c0004t0001 a0006c0024t0001 a0010c0014t0001 a0021c0011t0002 a0026c0062t0001 a0058c0119t0001	a0001c0003t0001g0114 a0001c0003t0001g0115 a0002c0028t0001g0101 others(8): Show a0001c0003t0001g0114 a0001c0003t0001g0115 a0002c0028t0001g0101 a0004c0118t0001g0100 a0006c0004t0001g0026 a0006c0004t0001g0035 a0006c0024t0001g0127 a0010c0014t0001g0008 a0021c0011t0002g0018 a0026c0062t0001g0111 a0058c0119t0001g0010	11	152	0.0724	411	c.299 others(432): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT ATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAATT TTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATATAGTTAT AACTATATGTAGTTATATATAATTATATATAATTATATATAATTTATATA CTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATATA AATATACAATACATTTTATATAATATATAATATATAGTATAATACAAAAT ATACATTATAATATATTATATAAAAATATTATAATATATAATAATATATA TTATATTATATATAATATATATAATATAATATATATTATATATAGTATAA TATATATATTATAATTTATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(404): Show TATAATATAATATAATTATATAATATATAATTTATATATAATATAATTAT ATAATATATAATTTATATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATAATATAATTATATAATAT ATAATTTATATATAATATAATTATATAATATATAATTTATATATAATATA ATTATATAATATATAATTTATATATAATATAATTATATAATATATAATTT ATATATAATATAATTATATAATATATAATTTATATATAATATAATTATAT AATATATAATTTATATATAATATAATTATATAATATATAATTTATATATA ATATAATTATATAATATATAATTTATATATAATATAATTATATAATATAT AATTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA19066.hp2 NA18970.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	288	0.0069	411	c.-31 others(422): Show c.-3142_-3141insTATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATTATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATTATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(404): Show TATAATATAATATAATTATATAATATATAATTTATATATAATATAATTAT ATAATATATAATTTATATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATAATATAATTATATAATAT ATTATTTATATATAATATAATTATATAATATATAATTTATATATAATATA ATTATATAATATATAATTTATATATAATATAATTATATAATATATAATTT ATATATAATATAATTATATAATATATAATTTATATATAATATAATTATAT AATATATAATTTATATATAATATAATTATATAATATATAATTTATATATA ATATAATTATATAATATATAATTTATATATAATATAATTATATAATATAT AATTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	411	c.-31 others(422): Show c.-3142_-3141insTATATATAAATTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATAATATATTATATAATTATATTATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATTATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MBP_chr18_76973833_77137783	77118034	C C	CGGGATGG others(404): Show CGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGA TGGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGAT GGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGG ACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGAGTGGGATGGGGAC AGTGGGTTGGGGTGGGACGGGGACAGGGGGTTGGGGCGGGATGGGGGACA GTGGGTTGGGGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0334 a0001c0001t0008g0334	1	396	0.0025	411	c.-25 others(430): Show c.-25-12749_-25-12748insACCCCAACCCACTGTCCCCCATCCCG CCCCAACCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATCCCACT CCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCC AACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAA CCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCATCCCACCCCAACCC ACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCACCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACT GTCCCCATCCCGCCCCAACCCACTGTCCCCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
METTL25B_chr1_156723469_156741960	156735539	A A	AAAAAAAA others(404): Show AAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACC CAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAG TGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCT GTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTC AGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAA AAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCT TGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCG AGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	390	0.0026	411	c.112 others(428): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735539	A A	AAAAAAAA others(404): Show AAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACC CAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAG TGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCT GTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTC AGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAAAATTAGCTGGACGTGGTGGCGAGTACCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCT TGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCG AGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0255 a0001c0010t0001g0255	1	390	0.0026	411	c.112 others(428): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGACGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735539	A A	AAAAAAAA others(404): Show AAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACC CAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAG TGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCT GTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTC AGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCT TGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCG AGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	390	0.0026	411	c.112 others(428): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MPG_chr16_73225_90846	82139	C C	CCGGCGCT others(404): Show CCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGGCCTCCTG AATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTT CTTCCCACCACCCTACCTCCAGGAAGGCCTCCTGAATGCTCCCCCGGCGC TGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTG AATGCTCCCCCG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	442	0.0023	411	c.301 others(426): Show c.301-913_301-912insCGGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCAGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCC ACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCG CTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCT CCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGGCCTC CTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCCG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3			chr16	TogoVar
MRPL24_chr1_156732303_156746088	156735539	A A	AAAAAAAA others(404): Show AAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACC CAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAG TGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCT GTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTC AGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAA AAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCT TGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCG AGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	364	0.0028	411	c.18 others(422): Show c.1858_*1859insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1763		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735539	A A	AAAAAAAA others(404): Show AAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACC CAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAG TGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCT GTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTC AGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAAAATTAGCTGGACGTGGTGGCGAGTACCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCT TGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCG AGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	364	0.0028	411	c.18 others(422): Show c.1858_*1859insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGTCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1763		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735539	A A	AAAAAAAA others(404): Show AAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACC CAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAG TGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCT GTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTC AGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCT TGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCG AGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	364	0.0028	411	c.18 others(422): Show c.1858_*1859insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1763		chr1	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATATAT others(404): Show ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTTATATATA TTTTATATATATTTTATATATATAAAATCTTTATATATATTTTATATATA TAAAATCTTTATATATATTTTATATATATAAAATCTTTATATATATTTTA TATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACT TTATATATATTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0053 a0001c0001t0042g0053	1	330	0.0030	411	c.-5+ others(426): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGAT TTTATATATATAAAATATATATAAAGATTTTATATATATAAAATATATAT AAAGATTTTATATATATAAAATATATATAAAATATATATAAAATAAGATT TTATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATA TAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATAT ATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAA ATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATAT AAAATATATATAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(404): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAATTTATAATATA TATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATAA GTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAATT ATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTA TAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATAT AACTTATAATTATAAGTTATAATATATAACTTATAATTATAAGTTATAAT ATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATATAACT TATAATTATAAG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0042 a0001c0001t0011g0042	1	284	0.0035	411	c.710 others(428): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAATTATAAGTTATATATTATAACTTAT AAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATA TATTATAACTTATAAGTTATATATTATAACTTATAATTATAAATTATATA TTATAACTTATAATTAAAAATTATAATATATAACTTATAATTATAAATTA TATATTATAAATTATAATATATAAATTATATATATATATTATAAATTATA ATATATAAATTATATATTATAATTTATAATTTATAATTATAAATTATATA TTATAAATTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYO1G_chr7_44957662_44984015	44961450	C C	CTGAGGGG others(404): Show CTGAGGGGCTGAGGGATTGAGGAGGCTGAGGGCTGAGGGGCTGAGGGAGT TGAGGGGTTGAGGGGGCTGACGGCTGAGGGCTGAGGGGCTGAGGGGCTAA GGAGGCTGAGGGGCTGAGGGGCTGGGGGGCTGGGGGGCTGAGGGGGCTGA GGGGCTGAGTTGTTGAGGGGGTTGAGGGGGCTGGGGGTCGGGGGGCTGAG GGCTGAGGGGCTGAGGGGTTGAGGAGGCTGAGGGCTGAGGGGCTGAGGGC CTGAGGGACTGAGGGCTGAGGGCTGAGGGGCTAAGGAGGCTGAGGGGCTG AGGGAGTTGAGGGGTTGAGGGGGCTGACGGCTGAGGGCTGAGGGGCTAAG GAGGCTGAGGGGCTGAGGGGCTGGGGGGCTGGGGGGCTGAGGGGGCTGAG GGGCTGAGTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01943.hp2 HG00140.hp1 HG01099.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0093 a0001c0001t0001g0001 a0001c0001t0001g0093	3	378	0.0079	411	c.12 others(422): Show c.1288_*1289insACAACTCAGCCCCTCAGCCCCCTCAGCCCCCCAG CCCCCCAGCCCCTCAGCCCCTCAGCCTCCTTAGCCCCTCAGCCCTCAGCC GTCAGCCCCCTCAACCCCTCAACTCCCTCAGCCCCTCAGCCTCCTTAGCC CCTCAGCCCTCAGCCCTCAGTCCCTCAGGCCCTCAGCCCCTCAGCCCTCA GCCTCCTCAACCCCTCAGCCCCTCAGCCCTCAGCCCCCCGACCCCCAGCC CCCTCAACCCCCTCAACAACTCAGCCCCTCAGCCCCCTCAGCCCCCCAGC CCCCCAGCCCCTCAGCCCCTCAGCCTCCTTAGCCCCTCAGCCCCTCAGCC CTCAGCCGTCAGCCCCCTCAACCCCTCAACTCCCTCAGCCCCTCAGCCCT CAGCCTCCTCAATCCCTCAGCCCCTCA	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		1211		chr7	TogoVar
NCR1_chr19_54901148_54918073	54916317	C C	CTTTTTTT others(404): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAA GTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCTG CAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTATTT TTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAGG TGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCC ACCACACCCAGCTACTTGTGCTTTTTGACCAACATCTTCCTCTCCTACCA CCCCCAGCCCCTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAACT GTTCTATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18967.hp2 NA19063.hp2 NA18952.hp1 NA18967.hp2 NA19063.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0007 a0003c0004t0006g0041 a0003c0004t0006g0112 a0003c0004t0006g0007 a0003c0004t0006g0041 a0003c0004t0006g0112	3	457	0.0066	411	c.34 others(422): Show c.3446_*3447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGAAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGC GCGATCTTGACTCTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCGTGCCACCACGCCCGG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAA ACTCCTGGTCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGA TTACAGACGTGAGCCACCACACCCAGCTACTTGTGCTTTTTGACCAACAT CTTCCTCTCCTACCACCCCCAGCCCCTGATAACCTCCACCTACTCTCACT TCTAGGAGATCAACTGTTCTATTTTTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3245		chr19	TogoVar
NCR1_chr19_54901148_54918073	54916317	C C	CTTTTTTT others(404): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGA AGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCT GCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTATT TTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAG GTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGC CACCACACCCAGCTACTTGTGCTTTTTGACCAACATCTTCCTCTCCTACC ACCCCCAGCCCCTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAAC TGTTCTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02293.hp1 HG02293.hp2 HG00738.hp2 HG02293.hp1 HG02293.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0007 a0003c0004t0006g0007	3	457	0.0066	411	c.34 others(422): Show c.3446_*3447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGAAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGG CGCGATCTTGACTCTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCGTGCCACCACGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCA AACTCCTGGTCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGG ATTACAGACGTGAGCCACCACACCCAGCTACTTGTGCTTTTTGACCAACA TCTTCCTCTCCTACCACCCCCAGCCCCTGATAACCTCCACCTACTCTCAC TTCTAGGAGATCAACTGTTCTATTTTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3245		chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(404): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGCATACAGTATGTATACTGTATACATACTGCATGCAG TATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACA CTATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATAT ATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0361 a0001c0002t0035g0361	1	362	0.0028	411	c.-75 others(430): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGTATGCGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACATACAGTATACATACATACAGT ATACATACATACAGTATACATGCTGTATACAGTATACATGCTGTATACAG TATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NPRL3_chr16_80386_143673	82139	C C	CCGGCGCT others(404): Show CCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGGCCTCCTG AATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCT CCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTT CTTCCCACCACCCTACCTCCAGGAAGGCCTCCTGAATGCTCCCCCGGCGC TGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTG AATGCTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	350	0.0029	411	c.45 others(422): Show c.4565_*4566insCGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAG GGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCG GAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAG GCCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCCGGGGGAGC ATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGC CGGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCCGGGGGAGCATTCAGGAGGCCTTCCTGGAGGTAG GGTGGTGGGAAGAAGGGGTCAGCGCCG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3246		chr16	TogoVar
NXN_chr17_794310_984776	949236	C C	CCCCCCTG others(404): Show CCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCGCGGCCTCC TCCTCTCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGG CCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTC CCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCC GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCT CCCCGCGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCC TCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCT GCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	242	0.0041	411	c.360 others(430): Show c.360+30082_360+30083insAGAGGAGGAGGCAGGGGGGAGAGTAG GAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAGGAGGCAG GGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGG AGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGAGAGGAGGAGGCCGCGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(404): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	186	0.0054	411	c.242 others(428): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALD1_chr10_70473767_70573450	70554949	T T	TCCCCTCC others(404): Show TCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCTTCCCC CTCCTCCCCCTCCCTTCCCCCTCCTCCCCCCTCCCTTCCCCCTCCTCCCC CTCCCCTCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCTTC CCTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTC CTCCCCGTCCTTCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCC CCCTCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCC CTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTT CCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0124 a0001c0004t0033g0124	1	308	0.0033	411	c.226 others(430): Show c.2262+7505_2262+7506insCCTCCCCCTCCTCCCCCTCCCCTCCC CCTCCTCCCCCTCCCTTCCCCCTCCTCCCCCTCCCTTCCCCCTCCTCCCC CCTCCCTTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTTCCC TCCCCCTCCTCCCCCTCCTTCCCTCCCCCTCCTCCCCCTCCCTTCCCCCT CCTCCCCCTCCCCTCCCCCTCCTCCCCGTCCTTCCCTCCCCCTCCTCCCC CTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTT CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAM16_chr16_4335251_4356321	4344737	A A	AGGGGATT others(404): Show AGGGGATTGTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGGTT CCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGG GACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGATTGTGTGAGGGGGGGGGTTCCGTGAGAGGAGGGGGTTCCG TGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGAT TGTGTGAGAGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02572.hp1 others(2): Show HG02109.hp2 HG02145.hp1 HG02572.hp1 HG02818.hp2 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0021 a0002c0002t0001g0013 a0002c0002t0001g0021	5	367	0.0136	411	c.4-1 others(424): Show c.4-1447_4-1446insCCCTCTCACACAATCCCCTCCTCTCACGGAAC CCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACG GAACCCCCCCCCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTC ACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACCCCCTCC TCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCC CTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCACAGAACC CCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAC AGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACCCCCTCCTCTC ACACAGTCCCCTTCTCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PCSK5_chr9_75885673_76367975	76063962	A A	ACCCCCCC others(404): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTC CTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA AGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGT GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCA GGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0021 a0021	a0021c0033 a0021c0033	a0021c0033t0014 a0021c0033t0014	a0021c0033t0014g0139 a0021c0033t0014g0139	1	166	0.0060	411	c.633 others(428): Show c.633-3986_633-3985insCACCTCCCTCCCGGACGGGGCGGCTGGT CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGAAGGGGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGACGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG GGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar

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Search Results (Total: 10000 hits)