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
ZNF506_chr19_19787711_19826750	19801683	CGGGAGGC others(407): Show CGGGAGGCTGTGGCAGAAGAATCTCTTGTACCCAGGAGGCGGAGGTTGCA GTGAGCCGAGATCGCACCACTGCAATCCAGCCTGGGTGACAGAGTGAGAC TCTGTCTCAAAAAAAAAAGAGAAACCTACTCTGAAAAAGCACACTAATGT GGAACTTCAAAACAATAATAAGAGAAATGTTTACTCATAAAATCTGGTAT GCAACATTGATGTATCATTTAAACAAACATTGTTAGGCCAGCCAGGCGCA GTGGCTCACATCTGTAATCTCAGCACTATGGGAGGCCGAGGCGGGCAGAT CACCTGAGGTCAGGAGTTCAAAGACCAGCCTGACCAACATGGTGAAACCC CATCTCTACTAAAAACAGAAAAATTAGCCGCGCATGGTGACACATGCCTG TAATTGCAGCTACTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0146 a0003c0003t0008g0146	1	418	0.0024	-414	c.226 others(17): Show c.226+3934_226+4347del	ZNF506	ENSG00000081665.14	transcript	ENST00000540806.7	protein_coding	3/3			chr19	TogoVar
ANKRD30B_chr18_14743172_14859667	14859125	CCTCCCAG others(406): Show CCTCCCAGACGGGGAGACCAGGAAGAGGCGCTCCTCACCTCCCAGATGGG GCGGGCTGGCAGAGGCGCTCCTCACCTCCCAGATGATGGGCAGCTGGGCA AAGGCGCTCCTCACCTCCCAGACTGGGCGGCCAGGCAGAGGCGCTCCTCG CCTCCCACATGGGGTGGCTGGGCAGAGGCGCTCCTCACCTCCTAGATGGG GTGGCCGGGCAGCGGCGCTCCTCACCTCCCAGACGGGGAGACCAGGAAGA GGTGCTCCTCACTTCCCAGATGGGGCAGCCAGGCAGAGGCGCTCCTCACT TCCCAGATGGTGTGTCATCCGTGAAGAGGCGCTTCTCACCTCCCAGATGA TTGGCAGCCAGAGAAAGGTGCTCCTCACTTCCCAGATGGGGCGGCCGAGA AATGCCACTCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	316	0.0032	-413	c.49 others(11): Show c.4968_*5380del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		4459		chr18	TogoVar
ARHGAP39_chr8_144524179_144690846	144531269	GGGCTAGA others(406): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTA	G G	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	246	0.0041	-413	c.298 others(17): Show c.2980+623_2981-399del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531564	GGGCTAGA others(406): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	246	0.0041	-413	c.298 others(17): Show c.2980+328_2981-694del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1874663	TGTGTAGG others(406): Show TGTGTAGGGGGTAGAGGTTCTAAGACAGTCTGGAGGGAGAGTGCAGACAC ACACCGGGGTGTGTAAGCAGTGGAGGTTCTAAGACAGGCTGGAGGAACAG TGGAGACACACACCAGGGCGTGTAGGGGGTAGAGGTTCTAAGACAGGCTG GAGGAACAGTGGAGACACACACCACGGCGTGTAGGGGGTAGAGGTTCTAA GACAGTCTGGTGGGAGAGTGCAGACACACCCGGGGCCGTGTAGGGGGTAC AGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACACGGGGCTGTGT CGGGGATAGAGGTTCTAAGACAGTCTGGTGGGAGAGTGCAGACACACACC AGGGCGTGTAGGGGGTAGAGGTTCTAAGACAGGCTGGAGGAACAGTGGAG ACACACACCACGGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18982.hp2 HG00438.hp2 NA18982.hp2	a0001 a0001	a0001c0014 a0001c0067 a0001c0014 a0001c0067	a0001c0014t0066 a0001c0067t0001 a0001c0014t0066 a0001c0067t0001	a0001c0014t0066g0119 a0001c0067t0001g0063 a0001c0014t0066g0119 a0001c0067t0001g0063	2	363	0.0055	-413	c.680 others(17): Show c.680-1875_680-1463del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASMT_chrX_1610059_1648081	1640921	GAGGATGT others(406): Show GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT CCTGATGATCCATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00735.hp1 others(1): Show HG00099.hp2 HG00323.hp1 HG00735.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0056 a0001c0001t0001g0076 a0002c0002t0002g0181 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0076 a0002c0002t0002g0181 a0002c0002t0002g0216	4	223	0.0179	-413	c.911 others(17): Show c.911-1872_911-1460del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
C8orf82_chr8_144520733_144534111	144531269	GGGCTAGA others(406): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA19005.hp1 NA19087.hp2 NA18950.hp2 NA19005.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0003 a0001c0001t0001g0016	3	398	0.0075	-413	c.-27 others(11): Show c.-2766_-2354del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2159		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531564	GGGCTAGA others(406): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	-413	c.-30 others(11): Show c.-3061_-2649del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2454		chr8	TogoVar
DLGAP2_chr8_732628_1713476	1461762	CGTGGGCT others(406): Show CGTGGGCTGGGTGCAGTCACTGATTTGGTGGCCAGGAGGAGGGAGAAGGG CGGCGTTCAGGTTGGGAGAAGGTGCTGCTGTCACAGGACTGGGTGCAGTC GCTGATTCGGTGACCAGGAGGAGGGAGAAGGGTGGCATTTGGGTTGGGAG AAGGTGCTGCTGTCACGTGGGCTGGGCACAGTCGCTGATTCGGTGGCCAG GAGGAGGGAGAAGGGTGGCATTTGGGTTGGGAGAAGGTGCTGCTGTCACG TGGGCTGGGTGCAGTCGCTGATTTGGTGGCCAGGAGGAGGGAGAAGGGCG GCATTTGGGTTGGGAGAAGGTGCTGCTGTCACAGGACTGGGTGCAGTCGC TGATTCGATGACCAGGAGGAGGGAGAAGGGTGGCATTTGGGTTGGGAGAA GGTGCTGCTGTCAG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG02258.hp1 others(3): Show HG01496.hp2 HG01891.hp2 HG02258.hp1 HG02895.hp1 HG02922.hp1 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0005 a0001c0003 a0002c0001 a0003c0005	a0001c0003t0001 a0001c0003t0014 a0002c0001t0005 others(2): Show a0001c0003t0001 a0001c0003t0014 a0002c0001t0005 a0003c0005t0002 a0003c0005t0004	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 others(3): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 a0002c0001t0005g0028 a0003c0005t0002g0031 a0003c0005t0004g0037	6	40	0.1500	-413	c.107 others(19): Show c.107-39554_107-39142del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
KLHL6_chr3_183482551_183560706	183548769	TAGAATAA others(406): Show TAGAATAAGTGCCAAGAACATATACACCATGGAATACTGTGCAGCCATAA AAAGGAATGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACC ATCATTCTCAGCAAACTAACACAGCAACAGAAAACCAAACACCGCATGTT CTCACTCATAAGTGGGAGTTGAACAATGAGAACACATGGACACAGGTAGG GGAACAACACAACCCGTGGCCTGTCGGCGGGTGGGGGACAAGGGGAGGGA GAGCATTAGGAAAAATACTTAATGCATTCAGGGCCTAAAACCTAGATGAT GGGTTGATAGGTGCAGCAAACCACCATGGCACGTGTATACCTATGTAACA AACCCGCGCATTCTGCACATGTATCCCAGAACTTAAAGTAAAATTTAAAC AAATTTTAAAAAAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02615.hp1 others(4): Show HG02109.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02895.hp2 HG03453.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0008 a0001c0010 others(3): Show a0001c0003 a0001c0008 a0001c0010 a0001c0014 a0001c0017 a0002c0007	a0001c0003t0013 a0001c0008t0043 a0001c0008t0046 others(4): Show a0001c0003t0013 a0001c0008t0043 a0001c0008t0046 a0001c0010t0041 a0001c0014t0063 a0001c0017t0025 a0002c0007t0023	a0001c0003t0013g0062 a0001c0008t0043g0063 a0001c0008t0046g0065 others(4): Show a0001c0003t0013g0062 a0001c0008t0043g0063 a0001c0008t0046g0065 a0001c0010t0041g0066 a0001c0014t0063g0060 a0001c0017t0025g0064 a0002c0007t0023g0061	7	298	0.0235	-413	c.293 others(17): Show c.293+6179_293+6591del	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
LRRC24_chr8_144517388_144532033	144531269	GGGCTAGA others(406): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA19005.hp2 NA19084.hp2 others(1): Show NA18950.hp2 NA19005.hp2 NA19084.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	398	0.0101	-413	c.-47 others(11): Show c.-4782_-4370del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4237		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531564	GGGCTAGA others(406): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGG GAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	398	0.0025	-413	c.-50 others(11): Show c.-5077_-4665del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4532		chr8	TogoVar
MITF_chr3_69734464_69973332	69964323	GTGAGAGA others(406): Show GTGAGAGACCATCTCTATTTTTCATACATAATCAAATCTATAAAACACCT AAAAATTTATTTCACATACTGCCAGTGGTACTTCTCCTATACTTTAGAAC ATACAGAGCTCATTAATTTAAAAGAACAAAAAACTTTTATTTTGAGGATT TATTGTTTTCCAAGTATCTGATTTTTAAAAATAGACTTTATTTTTCAGGA CAGTTTTTGGTTCACAGTAAAATTGAAATGAAGCTGCAGATATTTCCCAT ACACCTCATTCCCCCAAGCACGCACAGCCTTCCCCATTATCAACATTCCC TACCAGAGTGGCACATTTATTAGAATCAATGAACCCGCAGTGACATTTCA TTATCCTCCAAAGTCTATACTTTACATTCCCTCTGGTATTGTACATTTTG TGGGTTTGGCCAAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG00735.hp2 others(47): Show HG00438.hp2 HG00733.hp2 HG00735.hp2 HG01081.hp2 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG01975.hp2 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02257.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp1 HG04199.hp2 NA18953.hp1 NA18962.hp1 NA18966.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19003.hp1 NA19012.hp1 NA19064.hp1 NA19065.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0003t0002 a0001c0003t0011	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0008 others(47): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0010g0013 a0001c0001t0010g0017 a0001c0003t0002g0022 a0001c0003t0002g0147 a0001c0003t0011g0020	50	178	0.2809	-413	c.118 others(17): Show c.1180-521_1180-109del	MITF	ENSG00000187098.18	transcript	ENST00000352241.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MITF_chr3_69931592_69973332	69964323	GTGAGAGA others(406): Show GTGAGAGACCATCTCTATTTTTCATACATAATCAAATCTATAAAACACCT AAAAATTTATTTCACATACTGCCAGTGGTACTTCTCCTATACTTTAGAAC ATACAGAGCTCATTAATTTAAAAGAACAAAAAACTTTTATTTTGAGGATT TATTGTTTTCCAAGTATCTGATTTTTAAAAATAGACTTTATTTTTCAGGA CAGTTTTTGGTTCACAGTAAAATTGAAATGAAGCTGCAGATATTTCCCAT ACACCTCATTCCCCCAAGCACGCACAGCCTTCCCCATTATCAACATTCCC TACCAGAGTGGCACATTTATTAGAATCAATGAACCCGCAGTGACATTTCA TTATCCTCCAAAGTCTATACTTTACATTCCCTCTGGTATTGTACATTTTG TGGGTTTGGCCAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(111): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00735.hp2 HG01081.hp1 HG01106.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01975.hp2 HG02027.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 others(94): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0253 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0279 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0007g0001 a0001c0001t0007g0106 a0001c0001t0007g0116 a0001c0001t0007g0292 a0001c0001t0014g0163 a0001c0001t0015g0182 a0001c0001t0016g0207 a0001c0002t0002g0152 a0001c0002t0002g0179 a0001c0002t0002g0188	114	386	0.2953	-413	c.859 others(15): Show c.859-521_859-109del	MITF	ENSG00000187098.18	transcript	ENST00000394351.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
MTA1_chr14_105414827_105475729	105459164	CCCTAGGG others(406): Show CCCTAGGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCATGGCCCCTG GTCCCTGGCGCCTGGGGAGCTGTGTGCCTGGGGGCAGTCCGTGCTGCCCA TGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGGGGGAGTCCG TGCTGCCCGTGGCCCCTGGTCCCTGGTCCCTGGGGAGCTGTGTGCCTGGG GGGAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGCGCCTGGGGAGCTGT GTGCCTGGGGGGAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGTCCCTG GGGAGCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCGTGGCCCCTGGTCCC TGGCGCCTGGGGAGCTGTGTGCCTGGGGGCAGTCCGTGCTGCCCATGGCC CCTGGTCCCTGGCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0011 a0001c0019 others(8): Show a0001c0001 a0001c0011 a0001c0019 a0002c0002 a0002c0015 a0003c0004 a0004c0003 a0005c0005 a0006c0010 a0007c0013 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0011t0001 a0001c0019t0001 a0002c0002t0001 a0002c0002t0004 a0002c0015t0001 a0003c0004t0001 a0004c0003t0001 a0005c0005t0001 a0006c0010t0001 a0007c0013t0001 a0008c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(240): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0067 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0251 a0001c0001t0003g0253 a0001c0001t0007g0016 a0001c0011t0001g0206 a0001c0011t0001g0213 a0001c0019t0001g0209 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0045 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0222 a0002c0002t0001g0225 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0246 a0002c0002t0001g0252 a0002c0002t0001g0263 a0002c0002t0001g0277 a0002c0002t0004g0147 a0002c0015t0001g0121 a0003c0004t0001g0042 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0118 a0004c0003t0001g0033 a0004c0003t0001g0035 a0004c0003t0001g0072 a0004c0003t0001g0080 a0004c0003t0001g0104 a0004c0003t0001g0110 a0004c0003t0001g0115 a0004c0003t0001g0128 a0004c0003t0001g0186 a0004c0003t0001g0208 a0004c0003t0001g0216 a0004c0003t0001g0257 a0004c0003t0001g0266 a0004c0003t0001g0269 a0005c0005t0001g0063 a0005c0005t0001g0082 a0005c0005t0001g0090 a0005c0005t0001g0100 a0005c0005t0001g0133 a0005c0005t0001g0161 a0005c0005t0001g0188 a0005c0005t0001g0220 a0005c0005t0001g0226 a0006c0010t0001g0127 a0006c0010t0001g0164 a0006c0010t0001g0166 a0007c0013t0001g0031 a0007c0013t0001g0032 a0008c0016t0001g0083	259	304	0.8520	-413	c.653 others(15): Show c.653+796_654-778del	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NKD2_chr5_1003802_1043943	1022377	TGTGGGTG others(406): Show TGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGT CTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCT TTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGT GGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTT GTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCTTTGTCCCTGCT CTTCCCACCCGCTA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02615.hp2 HG01099.hp1 HG02615.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0078 a0004c0007t0006g0079 a0004c0007t0006g0078 a0004c0007t0006g0079	2	319	0.0063	-413	c.142 others(17): Show c.142-9758_142-9346del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1022704	GCTAGTGG others(406): Show GCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGG TGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAG CCCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTC CCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCT TCCCACCCTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCTG CTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCG TCCCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCC ATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCT GCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00544.hp2 others(46): Show HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01361.hp2 HG01517.hp2 HG01934.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02148.hp2 HG02486.hp1 HG02615.hp1 HG02735.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18968.hp1 NA18973.hp2 NA18980.hp2 NA18984.hp2 NA18999.hp1 NA19057.hp1 NA19064.hp1 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0008 a0001c0010 others(2): Show a0001c0001 a0001c0008 a0001c0010 a0002c0003 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0008t0023 a0001c0008t0024 a0001c0010t0001 a0002c0003t0001 a0006c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0020 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0162 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0002g0212 a0001c0001t0003g0124 a0001c0001t0005g0080 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0012g0120 a0001c0001t0020g0202 a0001c0001t0021g0010 a0001c0001t0022g0199 a0001c0008t0023g0021 a0001c0008t0024g0021 a0001c0010t0001g0210 a0002c0003t0001g0041 a0002c0003t0001g0208 a0006c0015t0001g0231	49	319	0.1536	-413	c.142 others(17): Show c.142-9445_142-9033del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1025096	CTCAGCCC others(406): Show CTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCT TTGTCCCTGCTCTTCCCACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTG CTCTTCCCACCCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCA CCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTG GGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCA GCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGT CCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCT TCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCG CTGTGGGCGTCTCA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	319	0.0031	-413	c.142 others(17): Show c.142-7055_142-6643del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
OTUD7A_chr15_31470398_31875673	31511066	TATATATG others(406): Show TATATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACACACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATACATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACACAT ATATATGTATATCTATATGTAACACATATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0216 a0001c0004t0010g0216	1	244	0.0041	-413	c.894 others(17): Show c.894-7661_894-7249del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511095	TATGTATA others(406): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACACACA TATGTATATCTATATGTAACACACATACATATGTATATCTATATGTAACA CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACATATATATGTATATCTATATGTAACACACATATATATGT ATATCTATATGTAACACACATATATATGTATATCTATATGTAACACATAT ATATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAAC ACACACATATATGTATATCTATATGTAACACACACATATATGTATATCTA TATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03540.hp1 HG02559.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0086 a0001c0004t0027 a0001c0004t0086	a0001c0004t0027g0022 a0001c0004t0086g0230 a0001c0004t0027g0022 a0001c0004t0086g0230	2	244	0.0082	-413	c.894 others(17): Show c.894-7690_894-7278del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
TENM1_chrX_124370903_125209312	124471146	AATATATA others(406): Show AATATATATTATGTCATATATAATATATAGTACTATATAATATATATTAT ATAATATATAGTACTATATATTATAATATATAGTACTATATATAATATAT AATAATATATATTATAATATATAGTACTATATATAATATATAGTACTATA TATTATAATATATAGTACTATATATTATAATATATAGTACTATATATAAT ATATATTATAATATATAGTACTATATATTATAATATATAGTACTATATAT AATATATATTATAATATATAGTAATATATTATATATTATATAATATATAG TACTATATATAATACTATATATAATATATAATATATAATATATAGTATTA TATAATATATAATATATAGTAATATATAATATATAATATATAGTAATATA TTATATATAATTAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	140	0.0071	-413	c.394 others(21): Show c.3949+10173_3949+10585del	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	25/34			chrX	TogoVar
VGLL4_chr3_11551069_11648915	11604336	AGTTAACA others(406): Show AGTTAACAGGTTAGCTGGAGGCAAGAACCCATGGCCTCTGCAATCAGACA ACGCCTCATCCTAAGACTGTGCAGCCTCACACAAGGCTTACAGCAAAGGA AAAGAATCCGCACATAAGGTCAGGGACAGGTCCGTTCAGTTATGTGCCTT TATGCATCTTTGGGGCCCCTCCCTAGATGGCCTTAACCCAACACTTGTAT GTTAGACAAGAGTGGTAACTGTTGTATGTGTGGTGGGGTTAAAATTATTT TTGTAAAACTGAAGCAGACATTTGTTCTGGGAGATAAGACACTTGCATTG CAATCTTGACTCCTCCTTTATTTAGGATGGGGTGAATTTGGGCACGTGCT TCCCCTCTCTGGGCCTCCCTCCATACAACAAGGGGCTGGACTAGCTAATG TGTCATGTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	388	0.0026	-413	c.83- others(15): Show c.83-2727_83-2315del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
ASMT_chrX_1610059_1648081	1639517	ACATGAGG others(405): Show ACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02622.hp1 HG03486.hp2 others(2): Show HG00544.hp2 HG02622.hp1 HG03486.hp2 NA19030.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0006 others(1): Show a0001c0001 a0001c0003 a0002c0006 a0003c0009	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0002c0006t0001 a0003c0009t0001	a0001c0001t0001g0214 a0001c0003t0001g0171 a0001c0003t0002g0133 others(2): Show a0001c0001t0001g0214 a0001c0003t0001g0171 a0001c0003t0002g0133 a0002c0006t0001g0187 a0003c0009t0001g0011	5	223	0.0224	-412	c.910 others(17): Show c.910+2971_911-2861del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640702	TGATGGGG others(405): Show TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG CCTCTGTGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	223	0.0045	-412	c.911 others(17): Show c.911-2097_911-1686del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDH4_chr20_61247261_61945617	61945205	AGCCCCTT others(405): Show AGCCCCTTCTCACTGACAATGAGGAGCATTCAGAGTGTCTACACCGTGGC CACGCCTTCTCACCGATGCTGAGGAGCACCGAGACTGTCTGCACTGTGGC CGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCATCTGCACCGTGGC CGCCCCCTCTCACCGACGACGAGGAGCACTGCGACTGTCTGCACCGTGGC CGCCCCTTCTCACTGACGATGAGGAGCACTGCGACTGTCTGCACCGTGGC CGCCCTTTCTGACTGATGATAAGGAACATTGCGACTGTCTGCACCGTGGC TGCCCCTTCTCACCAACGCTGAGGAGCACTGCAACCATCTGCACCGTGGC CGCCCCTTCTCACCGATGATGAGGAACATTGAGACTGTCTGCCCCGTGGC TGCCCCTTCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA19030.hp2 HG02145.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0037 a0001c0007t0010 a0001c0003t0037 a0001c0007t0010	a0001c0003t0037g0023 a0001c0007t0010g0037 a0001c0003t0037g0023 a0001c0007t0010g0037	2	106	0.0189	-412	c.82 others(11): Show c.8263_*8674del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4589		chr20	TogoVar
CSMD1_chr8_2930361_4999914	3795249	CACATATA others(405): Show CACATATAGATATATATCTATCATGTACAGATATATATATCATGTACAGA TATATATATCTATCATGTACAGATATAGATATCTATCATGTAGATATAGA TATATATCTATCATGTATATAGATATATATCATGTATAGATATAGATATC TATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATC ATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATAG ATATAGATATATATCTATCATAGATATAGATATATATCTATCATAGATAT AGATATATATCTATCATAGATATAGATATATATCTATCATAGATATAGAT ATATATCTATCATAGATATAGATATATATCTATCATGTATAGATATAGAT ATATATCTATCAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0001 a0027c0023t0001	a0027c0023t0001g0052 a0027c0023t0001g0052	1	126	0.0079	-412	c.819 others(19): Show c.819-41619_819-41208del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1462117	CGATGACC others(405): Show CGATGACCAGGAGGAGGGAGAAGGGTGGCATTTGGGTTGGGAGAAGGTGC TGCTGTCAGGTGGGCTGGGTGCAGTCACTGATTTGGTGGCCAGGAGGAGG GAGAAGGGTGGCGTTCAGGTTGGGAGAAGGTGCTGCTGTCACAGGACTGG GTGCAGTCGCTGATTCAGTGACCAGGAGGAGGTAGAAGGGTGGCATTTGG GTTGGGAGAAGGTGCTGCTGTCACAGGACTGGGTGCAGTCGCTGATTCAG TGACCAGGAGGAGGGAGAAGGGTGGCATTCGGGTTGGGAGAAGCTGCTGC TGTCACAGGACTGGGTGCAGTCGCTGATTTGGTGGCCAGGAGGAGGGAGA AGGGTGGCATTTGGGTTGGGAGAAGGTGCTGCTGTCACGTGGGCTGGGTG CAGTCGCTGATTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-412	c.107 others(19): Show c.107-39247_107-38836del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137566872	ACTGTCTG others(405): Show ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18955.hp1 NA18957.hp2 others(2): Show HG00597.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0276 a0001c0001t0002g0277 others(2): Show a0001c0001t0002g0271 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0290 a0001c0001t0002g0301	5	340	0.0147	-412	c.641 others(17): Show c.641-2130_641-1719del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567166	ACTCTGTC others(405): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02165.hp1 HG02080.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0142 a0001c0001t0001g0079 a0001c0001t0001g0142	2	340	0.0059	-412	c.641 others(17): Show c.641-2424_641-2013del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GRP_chr18_59215158_59235771	59233872	ATATCATA others(405): Show ATATCATATAGTATATAATATATATCATATGTTATATGATATATATTATA TATTATATATCATATGTTATATATCATATGTCATATGATATATAATATAT TATATATTATATAATGTATAATATATTATATAATATATAATATATAATAT AGTATATATATTATATATATAGTATATTATATATATAGTATATATATTAT ATATACTATATAGTATTTATATATATATTATATATACTATATAGTATATT ATATATATACTATATATACCATGGTATATATAATATAACATATTATACAT ACCATGGTATATATAATATAACATATTATACATACCATGGTATATATAAT ATAACATATTATACATACCATGGTATATATAATATAACATATTATACATA CCATGGTATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	408	0.0025	-412	c.34 others(11): Show c.3405_*3816del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3102		chr18	TogoVar
KALRN_chr3_124028369_124731325	124109903	ATCATACT others(405): Show ATCATACTTTGATATATATATGACATATATGTCATACTTTGATATATATG ACATATATGTCATACTTTGATATATATGACATATATGTCATACTTTGATA TATATGACATATATGTCATACTTTGATATATATGACATATATGTCATACT TTGATATATATATGACATATATGTCATACTTTGATATATATATGACATAT ATGTCATACTTTGATATATATATGACATATATGTCATACTTTGATATATA TATGACATATATGTCATACTTTGATATATATATGACATATATGTCATACT TTGATATATATATGACATATATGTCATACTTTGATATATATATGACATAT ATGTCATACTTTGATATATATATGACATATATGTCATACTTTGATATATA TATGACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0009 a0001c0047t0009	a0001c0047t0009g0092 a0001c0047t0009g0092	1	116	0.0086	-412	c.73+ others(17): Show c.73+76120_73+76531del	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198004509	CCATCTAT others(405): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTTTG ACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATAC GTAGTAAGTTTGA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp1 HG01261.hp1 others(7): Show HG00738.hp2 HG01123.hp1 HG01261.hp1 HG02109.hp2 HG02258.hp2 HG02698.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0007 a0001c0001t0019 a0001c0001t0031 others(2): Show a0001c0001t0007 a0001c0001t0019 a0001c0001t0031 a0003c0003t0028 a0003c0003t0029	a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0087 others(7): Show a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0087 a0001c0001t0007g0088 a0001c0001t0007g0091 a0001c0001t0019g0095 a0001c0001t0019g0096 a0001c0001t0031g0090 a0003c0003t0028g0081 a0003c0003t0029g0080	10	258	0.0388	-412	c.131 others(19): Show c.1319+1444_1319+1855del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MLPH_chr2_237482251_237560322	237543510	GGGGGACA others(405): Show GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTG AGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGT AGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACA GTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGA CAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAG GACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	286	0.0035	-412	c.153 others(18): Show c.1539+873_1539+1284del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTM1_chrX_150563621_150678143	150583457	TAATTATA others(405): Show TAATTATAAATATATATAAATTATATATATTATATATAAATTATAAATAT ATATAATTTATATATATTATATATAAATTATATATATTATACATAATTTA TATATAATATATAATTTATATATAATATATATAATTTATATATAATATAT AATTTATATATATTATATATAATTTATATATAATATATAATTTATATATA TTATATATAATTTATATATAAATAATTTGTATATATTATTTATAAATATA TAAATTATATATATTATATAAATTATATATTATATATAAATTAATATATA TTAAATTAATATATATTTAATATATAAAATATATATAAAATATATATTAA ATATATATATTAAATATACAAAATATATATAAATATATATCAAATATATA AAATATATATTAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp1 others(50): Show HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG01074.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG03491.hp2 HG03492.hp1 HG03942.hp1 HG04228.hp1 NA18941.hp2 NA18942.hp1 NA18952.hp1 NA18970.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA19012.hp1 NA19055.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(42): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0171 a0001c0001t0001g0255 a0001c0001t0004g0242 a0001c0001t0004g0243	53	277	0.1913	-412	c.-10 others(17): Show c.-10-9146_-10-8735del	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MTM1_chrX_150563621_150678143	150583470	ATATAAAT others(405): Show ATATAAATTATATATATTATATATAAATTATAAATATATATAATTTATAT ATATTATATATAAATTATATATATTATACATAATTTATATATAATATATA ATTTATATATAATATATATAATTTATATATAATATATAATTTATATATAT TATATATAATTTATATATAATATATAATTTATATATATTATATATAATTT ATATATAAATAATTTGTATATATTATTTATAAATATATAAATTATATATA TTATATAAATTATATATTATATATAAATTAATATATATTAAATTAATATA TATTTAATATATAAAATATATATAAAATATATATTAAATATATATATTAA ATATACAAAATATATATAAATATATATCAAATATATAAAATATATATTAA ATATATATTAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02155.hp2 HG02738.hp1 others(4): Show HG00423.hp2 HG02155.hp2 HG02738.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0099 others(4): Show a0001c0001t0001g0073 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0172 a0001c0001t0001g0173	7	277	0.0253	-412	c.-10 others(17): Show c.-10-9134_-10-8723del	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14			chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1288406	TGTCCCTG others(405): Show TGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCG AGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTG TTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0006 a0012c0022t0006	a0012c0022t0006g0132 a0012c0022t0006g0132	1	290	0.0035	-412	c.166 others(17): Show c.1662+373_1662+784del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444514	TACACATA others(405): Show TACACATATATACGTACGAATATATATACACATATATACGTACGAATATA TATACACATATATACGTACGAATATATATACACATATATACGTACGAATA TATATACACATATATACGTACGAATATATATACACATATATACGTACGAA TATATATACACATATATACGTACGAATATATATACACATATATACGTACG AATATATATACACATATATACGTACGAATATATATACACATATATACGTA CGAATATATATACACATATATACGTACGAATATATATACACATATATTCG TACGAATATATATACACATATATTCGTACGAATATATATACACATATATT CGTACGAATATATATACACATATATTCGTACGAATATATATACATATATT CGTACGAATATAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	290	0.0035	-412	c.114 others(19): Show c.1140+1833_1140+2244del	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109199332	ATGGAATG others(405): Show ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGATGGAATGGAATGGGATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0006 a0003c0020t0006	a0003c0020t0006g0062 a0003c0020t0006g0062	1	172	0.0058	-412	c.573 others(19): Show c.573+69220_573+69631del	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9			chr2	TogoVar
SLC16A3_chr17_82224042_82245086	82224250	AGTCACCT others(405): Show AGTCACCTGTGCAGACACACCCCTACACCCGTGCAGACACACCCCTACAC CTGTGCAGTCACCTGTGCAGACACACCCCTACACCTGTGCAGTCACCTGT GCAGACACACCCCTACACCCGTGCAGTCACCTGTGCAGACACACCCCTAC ACCCGTGCAGACACACCCCTACACCTTGCAGTCACCTGTGCAGACACACC CCTACACCCGTGCAGACACACCCCTACACCTGTGCAGTCACCTGTGCAGA CACACCCCTACACCCGTGCAGTCACCTGTGCAGACACACCCCTACACCCA TGCAGACACACCCCTACACCTTGCAGTCACCTGTGCAGACACACCCCTAC ACCCGTGCAGACACACCCCTACACCTGTGCAGTCACCTGTGCAGACACAC CCCTACACCCGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	410	0.0024	-412	c.-48 others(11): Show c.-4882_-4471del	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		4791		chr17	TogoVar
SMYD3_chr1_245744347_246512279	246275983	GTAGTGGA others(405): Show GTAGTGGAGTCTGATGCCCATGTTTGAATACTAACTCTGTTTTTCACTAG TCGTATTAACACTGGCAGGTTATTTAATGTCTGTAGTGGAGTCTGATGCC CAAGTTTGAATACTAACTCTGTTTTTCACTAGTCGTATTAACACTGGCAG GTTATTTAATGTCTGTAGTGGAGTCTGATGCCCATGTTTGAATACTAACT CTGTTTTTTACTAACCGTATTAACACTGGCAAGTTATTTAATGTTTCTAG TGGAGTCTGATGCCCATGTTTGAATACTAACTCTGTTTTTTCACTAGCCG TATTAACACTGGCAAGTTATTTAATGCCTCTAGTGGAGTCTGATGCCCAT GTTTGAATACTAACTCCATTTTTTCACTACCCGTATTAACACTGGCAGGT TATTTAATGTTTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00597.hp2 others(36): Show HG00140.hp2 HG00423.hp1 HG00597.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03130.hp1 HG03579.hp1 HG03831.hp1 HG04115.hp2 NA18522.hp1 NA18747.hp2 NA18962.hp1 NA18963.hp1 NA19000.hp1 NA19057.hp2 NA19086.hp1 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0016 a0002c0017 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 a0002c0017t0001 a0004c0013t0002	a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 others(36): Show a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0002g0052 a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0002t0001g0015 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0083 a0001c0006t0001g0035 a0002c0003t0001g0099 a0002c0003t0001g0148 a0002c0003t0002g0131 a0002c0004t0001g0098 a0002c0004t0001g0121 a0002c0004t0001g0149 a0002c0005t0001g0138 a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0016t0001g0097 a0002c0017t0001g0122 a0004c0013t0002g0072	39	150	0.2600	-412	c.531 others(19): Show c.531+50806_531+51217del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
ADARB2_chr10_1172313_1742525	1239620	TCCCCTCT others(404): Show TCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CCCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCG GTGTTTACTCCC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0016 a0011c0008t0016	a0011c0008t0016g0003 a0011c0008t0016g0003	1	106	0.0094	-411	c.136 others(19): Show c.1361+2100_1361+2510del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1888466	GGTATTGA others(404): Show GGTATTGAGGAGACACTGAGTGGGGTAAGAAGTCTGTGGAGATACTGAGT GGGGTGAGGGGTCTGTGAGGAGACGCTGAGTGGGGTGAGGTATGGGGAGA CACTGAGTGGGGTGTGAGGGGTCTGTGAGGTGTCACTGAGTGTGGTGAGG TTTGTGAGGAAACACAGAGTGTGGTAAGGGTCCTGAGGAAACACTGAGTT GGGTGAGGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGA CACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTTG TGAGGAGACACTGAGTGGGGTGAGTATTGTGAGGAGACACTGAGTGGGGT GAGAGTTATGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTG AGTGGGGTGAGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp2 NA18906.hp1 HG02258.hp1 HG02818.hp2 NA18906.hp1	a0001 a0022 a0024 a0001 a0022 a0024	a0001c0002 a0022c0091 a0024c0094 a0001c0002 a0022c0091 a0024c0094	a0001c0002t0026 a0022c0091t0003 a0024c0094t0016 a0001c0002t0026 a0022c0091t0003 a0024c0094t0016	a0001c0002t0026g0192 a0022c0091t0003g0358 a0024c0094t0016g0103 a0001c0002t0026g0192 a0022c0091t0003g0358 a0024c0094t0016g0103	3	363	0.0083	-411	c.118 others(19): Show c.1182+2762_1182+3172del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888928	GAGGGGTC others(404): Show GAGGGGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGAGGAGAC ACTGAGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAGAGTTGT GAGGAAACATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATTGGGGTG AGGGGTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTGAGGAGA CACTGTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGGGGTTGT GAGGAGAGCGTGGGGTGAGGTTTATTAGGAGACACTGAATGGGGTGAGGG TTGTGAGGAGACATTGAGTGGGATGAGAGGTGTGAGGAGACACTGAATGT GGTGAGGGTTTGTGAGGAGATACTGCATGGGGTGAGCTTTCTTAGGAGAC ACTGAGTGGGTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0058 a0001c0009t0058	a0001c0009t0058g0200 a0001c0009t0058g0200	1	363	0.0028	-411	c.118 others(19): Show c.1182+3224_1182+3634del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASMT_chrX_1610059_1648081	1640395	GTCCTGTG others(404): Show GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACC CATCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG ACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGG ATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCC TGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCT GTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACC ATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	223	0.0045	-411	c.911 others(17): Show c.911-2398_911-1988del	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
CASK_chrX_41509934_41928554	41702010	TAAAAAAC others(404): Show TAAAAAACATAAATTGCCATTAATATGTATTGGGGGTAAAAATTTCTGCT TACCACTCATCAAAATTGTATGATGTCAAAAAAAACAAAATCTTTGCCGG GCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGG TGGATCACCTGAGGTCAGGAGTTCAAGACGAGCCTGACCAACATGGAGAA ACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCGCATGC CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCC GGGAGGCGGAGGTTGTGGTGAGCTGAGATTGTGTCATTGTACTCCAGCCT GGGCAACAAGAGCAAAACTTCGTCTCAAAAACATAAATAAATAAATAAAT TACAATAAAATA	T T	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0132 a0001c0001t0018g0132	1	164	0.0061	-411	c.430 others(19): Show c.430-30891_430-30481del	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
DIP2C_chr10_269201_694668	417734	GCCTGTCA others(404): Show GCCTGTCAGGGCTCGGATAGGCATCCCTGTCCACCTGCACCTGTCAGGGC TCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCGCGGACAGGCCT CCCTGTCCACCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCT GCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGG GCTTCGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGC CTCCCTGTCCACCTGCACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCAC CTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTTCACTGCACCTGTCAG GCCTCAGATAGGCATCCCCGTCCACCTGTCGGAGCTCGGATAGGCCTCCC TGTCCACCTGCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG01081.hp2 others(12): Show HG00609.hp2 HG00673.hp1 HG01081.hp2 HG02027.hp2 HG02071.hp2 HG02809.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03942.hp1 NA18747.hp2 NA18970.hp1 NA19007.hp1 NA19081.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0018 a0001c0019 a0001c0023	a0001c0001t0002 a0001c0003t0002 a0001c0007t0002 others(3): Show a0001c0001t0002 a0001c0003t0002 a0001c0007t0002 a0001c0018t0003 a0001c0019t0006 a0001c0023t0003	a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0003t0002g0021 others(12): Show a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0040 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0062 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0018t0003g0011 a0001c0019t0006g0014 a0001c0023t0003g0071	15	88	0.1705	-411	c.739 others(16): Show c.739+920_739+1330del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DIP2C_chr10_269201_694668	417743	GGCTCGGA others(404): Show GGCTCGGATAGGCATCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGG CCTCCCTGTCCACCTGTTCCTGTCAGGGCGCGGACAGGCCTCCCTGTCCA CCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTC AGGGCTCGGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATA GGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTC CACCTGCACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGTTCCTG TCAGGGCTTCGATAGGCCTCCCTGTTCACTGCACCTGTCAGGCCTCAGAT AGGCATCCCCGTCCACCTGTCGGAGCTCGGATAGGCCTCCCTGTCCACCT GCACCTGTCAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03130.hp2 HG00621.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0003 a0001c0010t0002 a0001c0002t0003 a0001c0010t0002	a0001c0002t0003g0059 a0001c0010t0002g0001 a0001c0002t0003g0059 a0001c0010t0002g0001	2	88	0.0227	-411	c.739 others(16): Show c.739+911_739+1321del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
ERICH1_chr8_659200_736224	675320	CGTGAGGA others(404): Show CGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGC GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGG ACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCG TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGC GCGGCGGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	378	0.0027	-411	c.305 others(17): Show c.305-1684_305-1274del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675321	GTGAGGAC others(404): Show GTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCG GCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAG ACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCG CGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02165.hp1 HG04199.hp2 others(2): Show HG02083.hp1 HG02165.hp1 HG04199.hp2 NA18964.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0099 a0001c0001t0001g0121	5	378	0.0132	-411	c.305 others(17): Show c.305-1685_305-1275del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675761	TGAGGACA others(404): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGCCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGA GGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTC GTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGG CGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG03516.hp2 HG02451.hp1 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232	3	378	0.0079	-411	c.305 others(17): Show c.305-2125_305-1715del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar

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Search Results (Total: 10000 hits)