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
ABR_chr17_998519_1184981	1173303	T T	TCCACCCC others(404): Show TCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTC CACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCA CCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCC AACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCT CAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCC ACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCAACA CATCACCTCAGC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	337	0.0030	411	c.61+ others(426): Show c.61+6363_61+6364insGCTGAGGTGATGTGTTGGGTGGACTGAGGT GACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGG ACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAG GTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG TGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGTGGGCTGAGGTGATGTCG GGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGG GGGGTGGACTGAGGTGATGTGTGGGGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACOT11_chr1_54543228_54615329	54561916	C C	CGCCCCCC others(404): Show CGCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGC AGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0159 a0005c0005t0003g0160 a0005c0005t0003g0159 a0005c0005t0003g0160	2	388	0.0052	411	c.33+ others(428): Show c.33+13574_33+13575insGCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCT GACCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15			chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCC others(404): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAG GGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02074.hp2 NA18948.hp1 others(1): Show HG02071.hp1 HG02074.hp2 NA18948.hp1 NA18980.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0347 a0004c0004t0004g0349 a0004c0004t0004g0361 others(1): Show a0004c0004t0004g0347 a0004c0004t0004g0349 a0004c0004t0004g0361 a0004c0004t0004g0362	4	388	0.0103	411	c.33+ others(428): Show c.33+13582_33+13583insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC TCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCC others(404): Show CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGA CGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0309 a0004c0004t0004g0309	1	388	0.0026	411	c.33+ others(428): Show c.33+13582_33+13583insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC TCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(404): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0359 a0001c0007t0002g0359	1	388	0.0026	411	c.33+ others(428): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(404): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGCTGA CCCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0177 a0002c0002t0003g0177	1	388	0.0026	411	c.33+ others(428): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561945	G G	GGCTGGCC others(404): Show GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0308 a0004c0004t0004g0308	1	388	0.0026	411	c.33+ others(428): Show c.33+13614_33+13615insGGGGGGCTGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTGGCTGGGCG GGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17754332	G G	GTTTTTTT others(404): Show GTTTTTTTTTTTTTTTTTTTTTTTCCTCTCACATATTCTTCTTTGTTTTA TTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTTTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTC ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTCG TTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCC CTATGTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG02280.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0354 a0001c0003t0003g0356 a0001c0003t0003g0354 a0001c0003t0003g0356	2	366	0.0055	411	c.-11 others(422): Show c.-1197_-1196insTTTTTTTTTTTTTTTTTTTTTTTCCTCTCACATA TTCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTT TTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACC CACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCC CCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTG TGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCG GTGTTTGGTTTTTCGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCA ATTTCATCCATGTCCCTATGTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding		1000		chr1	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(404): Show GGAGGGAGAGGGAGACGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0036 a0002c0001t0036	a0002c0001t0036g0038 a0002c0001t0036g0038	1	354	0.0028	411	c.523 others(430): Show c.523-13463_523-13462insAGAGGGAGACGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(404): Show AGGGGAAGAGGGAGGAGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGAGGG GAGGAGGGAGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGAGGGGG GGAGGGGGAGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGA GGGGAGGGGGGGAGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGG AGGAGGGGAGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGGAGGAGGGAGGGCGGGGAGGAGGGGGACGGGGGAGGAGGG GAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	352	0.0028	411	c.51 others(422): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCCTCC TCCCCGCCCTCCCTCCTCCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCC TCCCCTTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCT CCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTC CTCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCT CCCCTCCTCCCTCCTCCCCTCCCCCTCCCCCCCTCCCTCCTCCCCCCTCC CCTCCTCCCTCTTCCCCTCTCCCTCCTCCCCTCCCCTCCCCCCTCCCCTC CTCCCCCCTCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(404): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGG GGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGA GGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGG AGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGG GAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	411	c.51 others(422): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCT CCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCTCCCCTCC TCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(404): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGG GAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp2 HG04199.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0004g0005 a0001c0001t0001g0003 a0001c0001t0004g0005	2	352	0.0057	411	c.51 others(422): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCTCCTCCCCTCCTCCCCCTCCCCCTTCC CTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCT CCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTC CTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCC TCCCCTCCTCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTC CTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCC TCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(404): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0105 a0001c0001t0008g0105	1	188	0.0053	411	c.-1- others(426): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(404): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	188	0.0053	411	c.-1- others(426): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(404): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	188	0.0053	411	c.-1- others(426): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(404): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	188	0.0053	411	c.-1- others(426): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGGAAGAAGAAGGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(404): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	188	0.0053	411	c.-1- others(426): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(404): Show AAGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGG TGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGA GGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGAG AGGGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGTC GACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGAGGGGAGG GGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATG GGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGC GAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGG GAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0255 a0014c0018t0001g0255	1	350	0.0029	411	c.248 others(426): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTC TCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCA CCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCAC CCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCA CCCTTCCACTCCCCTCACCTCCTCCTCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(404): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGAGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGAGAGGGGGAGGTGA GGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGG GAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGG GGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGG GGAGGGGGAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01346.hp1 others(4): Show HG00140.hp2 HG00733.hp2 HG01346.hp1 HG01358.hp2 HG01928.hp2 HG01993.hp1 HG02148.hp2	a0003 a0013 a0003 a0013	a0003c0003 a0013c0019 a0003c0003 a0013c0019	a0003c0003t0001 a0013c0019t0001 a0003c0003t0001 a0013c0019t0001	a0003c0003t0001g0124 a0003c0003t0001g0333 a0003c0003t0001g0334 others(4): Show a0003c0003t0001g0124 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0336 a0003c0003t0001g0337 a0013c0019t0001g0247	7	350	0.0200	411	c.248 others(426): Show c.2483+67_2483+68insGCCTCCCCCTCCCCCTCCCCTCGCCTTCCC CTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACC TTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCC ACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCCTCTCCTC ACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCTCTCACCTTCCC CTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCA CTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCC ACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ASTN2_chr9_116418112_117420057	116936095	A A	ACAACCAA others(404): Show ACAACCAATGCCATCATCATCACCACCACCACCACCATCACTACTACCAA TAAACCACCAACATTACCACCAACATCATCATCACCACTACCATCATCAC CACTACCACCATCACCACTATCACCACTACCACCATCACCATCAAAACTA CCACTAAAACCACCACCACCACCAATACCATCAGCACCACAACCATCACC ACCACCACCACCACAATTATCACCACCACCACCATCACTACCACTAAAAC CACCACCACTATCACCATCACCACCACCACCATCACCACCACAACCATCA CCACCACCACTACCACAATTATCACCACCACCATCATCATCACTATCAGT AAAACCACCATCACCACCACCGCCACCACCACCACAGCTATCACCATCAC CACCATCATCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp2 HG03130.hp2 others(2): Show HG00639.hp1 HG02451.hp2 HG03130.hp2 NA19011.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0005 a0001c0002t0001 a0001c0003t0005 others(2): Show a0001c0001t0005 a0001c0002t0001 a0001c0003t0005 a0001c0003t0010 a0001c0008t0005	a0001c0001t0005g0077 a0001c0002t0001g0036 a0001c0003t0005g0082 others(2): Show a0001c0001t0005g0077 a0001c0002t0001g0036 a0001c0003t0005g0082 a0001c0003t0010g0052 a0001c0008t0005g0081	5	102	0.0490	411	c.188 others(432): Show c.1889+39112_1889+39113insATGATGATGGTGGTGATGGTGATA GCTGTGGTGGTGGTGGCGGTGGTGGTGATGGTGGTTTTACTGATAGTGAT GATGATGGTGGTGGTGATAATTGTGGTAGTGGTGGTGGTGATGGTTGTGG TGGTGATGGTGGTGGTGGTGATGGTGATAGTGGTGGTGGTTTTAGTGGTA GTGATGGTGGTGGTGGTGATAATTGTGGTGGTGGTGGTGGTGATGGTTGT GGTGCTGATGGTATTGGTGGTGGTGGTGGTTTTAGTGGTAGTTTTGATGG TGATGGTGGTAGTGGTGATAGTGGTGATGGTGGTAGTGGTGATGATGGTA GTGGTGATGATGATGTTGGTGGTAATGTTGGTGGTTTATTGGTAGTAGTG ATGGTGGTGGTGGTGGTGATGATGATGGCATTGGTTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116936095	A A	ACAACCAA others(404): Show ACAACCAATGCCATCATCATCACCACCACCACCACCATCACTACTACCAA TAAACCACCACCATTACCACCAACATCATCATCACCACTACCATCATCAC CACTACCACCATCACCACTATCACCACTACCACCATCACCATCAAAACTA CCACTAAAACCACCACCACCACCAATACCATCAGCACCACAACCATCACC ACCACCACCACCACAATTATCACCACCACCACCATCACTACCACTAAAAC CACCACCACTATCACCATCACCACCACCACCATCACCACCACAACCATCA CCACCACCACTACCACAATTATCACCACCACCATCATCATCACTATCAGT AAAACCACCACCACCACCACCGCCACCACCACCACAGCTATCACCATCAC CACCATCATCAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp2 others(25): Show HG00099.hp1 HG00639.hp2 HG00735.hp2 HG01099.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG03017.hp1 HG03130.hp1 HG03239.hp1 HG03239.hp2 NA18906.hp1 NA18959.hp1 NA18959.hp2 NA19011.hp2 NA19012.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0021 a0001c0022 a0004c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0003t0006 a0001c0009t0004 a0001c0010t0001 a0001c0010t0004 a0001c0021t0006 a0001c0022t0001 a0004c0024t0013	a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0002g0040 others(25): Show a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0002g0040 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0008g0008 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0002g0059 a0001c0002t0003g0021 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0003g0094 a0001c0002t0004g0029 a0001c0002t0004g0047 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0008g0024 a0001c0002t0010g0064 a0001c0003t0006g0017 a0001c0003t0006g0026 a0001c0009t0004g0032 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0021t0006g0056 a0001c0022t0001g0020 a0004c0024t0013g0101	28	102	0.2745	411	c.188 others(432): Show c.1889+39112_1889+39113insATGATGATGGTGGTGATGGTGATA GCTGTGGTGGTGGTGGCGGTGGTGGTGGTGGTGGTTTTACTGATAGTGAT GATGATGGTGGTGGTGATAATTGTGGTAGTGGTGGTGGTGATGGTTGTGG TGGTGATGGTGGTGGTGGTGATGGTGATAGTGGTGGTGGTTTTAGTGGTA GTGATGGTGGTGGTGGTGATAATTGTGGTGGTGGTGGTGGTGATGGTTGT GGTGCTGATGGTATTGGTGGTGGTGGTGGTTTTAGTGGTAGTTTTGATGG TGATGGTGGTAGTGGTGATAGTGGTGATGGTGGTAGTGGTGATGATGGTA GTGGTGATGATGATGTTGGTGGTAATGGTGGTGGTTTATTGGTAGTAGTG ATGGTGGTGGTGGTGGTGATGATGATGGCATTGGTTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116936095	A A	ACAACCAA others(404): Show ACAACCAATGCCATCATCATCACCACCACCACCACCATCACTACTACCAA TAAACCACCACCATTACCACCAACATCATCATCACCACTACCATCATCAC CACTACCACCATCACCACTATCACCACTACCACCATCACCATCAAAACTA CCACTAAAACCACCACCACCACCAATACCATCAGCACCACAACCATCACC ACCACCACCACCACAATTATCACCACCACCACCATCACTACCACTAAAAC CACCACCACTATCACCATCACCACCACCACCATCACCACCACAACCATCA CCACCACCACTACCACAATTATCACCACCACCATCATCATCACTATCAGT AAAACCACCATCACCACCACCGCCACCACCACCACAGCTATCACCATCAC CACCATCATCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01081.hp1 others(64): Show HG00099.hp2 HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0023 a0001c0025 a0002c0004 a0003c0016 a0003c0019 a0005c0015 a0006c0020 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0012 a0001c0003t0014 a0001c0005t0005 a0001c0006t0002 a0001c0007t0001 a0001c0008t0005 a0001c0009t0008 a0001c0011t0004 a0001c0012t0001 a0001c0013t0009 a0001c0014t0017 a0001c0017t0002 a0001c0023t0002 a0001c0025t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0003c0016t0004 a0003c0019t0002 a0005c0015t0003 a0006c0020t0001 a0007c0018t0003	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0037 others(64): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0018 a0001c0001t0002g0051 a0001c0001t0002g0070 a0001c0001t0003g0013 a0001c0001t0004g0060 a0001c0001t0005g0035 a0001c0001t0005g0096 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0001t0008g0065 a0001c0001t0009g0086 a0001c0001t0011g0002 a0001c0001t0015g0045 a0001c0001t0016g0075 a0001c0002t0001g0033 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0061 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0004g0043 a0001c0002t0004g0062 a0001c0003t0001g0038 a0001c0003t0001g0055 a0001c0003t0002g0044 a0001c0003t0003g0030 a0001c0003t0004g0085 a0001c0003t0007g0071 a0001c0003t0007g0074 a0001c0003t0012g0001 a0001c0003t0014g0083 a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0006t0002g0012 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0008t0005g0073 a0001c0009t0008g0088 a0001c0011t0004g0097 a0001c0012t0001g0098 a0001c0013t0009g0072 a0001c0014t0017g0050 a0001c0017t0002g0089 a0001c0023t0002g0069 a0001c0025t0001g0080 a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 a0002c0004t0006g0003 a0003c0016t0004g0027 a0003c0019t0002g0025 a0005c0015t0003g0019 a0006c0020t0001g0039 a0007c0018t0003g0031	67	102	0.6569	411	c.188 others(432): Show c.1889+39112_1889+39113insATGATGATGGTGGTGATGGTGATA GCTGTGGTGGTGGTGGCGGTGGTGGTGATGGTGGTTTTACTGATAGTGAT GATGATGGTGGTGGTGATAATTGTGGTAGTGGTGGTGGTGATGGTTGTGG TGGTGATGGTGGTGGTGGTGATGGTGATAGTGGTGGTGGTTTTAGTGGTA GTGATGGTGGTGGTGGTGATAATTGTGGTGGTGGTGGTGGTGATGGTTGT GGTGCTGATGGTATTGGTGGTGGTGGTGGTTTTAGTGGTAGTTTTGATGG TGATGGTGGTAGTGGTGATAGTGGTGATGGTGGTAGTGGTGATGATGGTA GTGGTGATGATGATGTTGGTGGTAATGGTGGTGGTTTATTGGTAGTAGTG ATGGTGGTGGTGGTGGTGATGATGATGGCATTGGTTG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
C4orf50_chr4_5954375_6023431	6004583	G G	GATGGTGA others(404): Show GATGGTGATGATATTGATGGTGATGATATTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGGTGATGATGGTGATAGTTATGATGGTGA TGGTGATGATGTTGATGATGGTGATGATGGTGATGGTGATGATGTGATGG TGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGAT AGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGATGACGGTGATGGTGATGATGGTGATGGTGATGATGGTG ATGGTGGTGATGGTGATGGAGATGTTGGTGATGATGGTGATGGTGGTGAT GATGTGATGGTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0000 a0086c0099t0000	a0086c0099t0000g0033 a0086c0099t0000g0033	1	346	0.0029	411	c.963 others(428): Show c.963+3412_963+3413insTACCATCACATCATCACCACCATCACCA TCATCACCAACATCTCCATCACCATCACCACCATCACCATCATCACCATC ACCATCATCACCATCACCGTCATCATCACCATCACCATCATCACCATCAC CATCATCACCATCACCATCATCACCATCATCACTATCATCACCATCACCA TCATCACCATCACCATCATCACCATCATCACCATCACCATCACCATCATC ACCATCACCATCATCACCATCATCACTATCATCACCATCACATCATCACC ATCACCATCATCACCATCATCAACATCATCACCATCACCATCATAACTAT CACCATCATCACCATCATCACCATCACATCATCACCATCACCATCATCAC CATCAATATCATCACCATCAATATCATCACCAT	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(404): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACAGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0243 a0002c0002t0002g0243	1	338	0.0030	411	c.300 others(428): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGCGAGTAGACAGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(404): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01081.hp2 others(18): Show HG00621.hp1 HG00621.hp2 HG01081.hp2 HG01346.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18964.hp2 NA18966.hp2 NA18995.hp2 NA19057.hp1 NA19057.hp2 NA19087.hp2 NA19088.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0027 a0050 a0076	a0001c0001 a0001c0087 a0002c0002 others(7): Show a0001c0001 a0001c0087 a0002c0002 a0002c0010 a0002c0014 a0004c0019 a0006c0004 a0027c0127 a0050c0102 a0076c0126	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0087t0002 a0002c0002t0007 a0002c0010t0002 a0002c0014t0007 a0004c0019t0002 a0006c0004t0017 a0027c0127t0009 a0050c0102t0002 a0076c0126t0001	a0001c0001t0001g0198 a0001c0001t0001g0236 a0001c0001t0001g0315 others(17): Show a0001c0001t0001g0198 a0001c0001t0001g0236 a0001c0001t0001g0315 a0001c0001t0002g0101 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0156 a0001c0001t0005g0269 a0001c0001t0009g0001 a0001c0001t0010g0013 a0001c0001t0010g0155 a0001c0087t0002g0242 a0002c0002t0007g0082 a0002c0010t0002g0205 a0002c0014t0007g0081 a0004c0019t0002g0063 a0006c0004t0017g0263 a0027c0127t0009g0164 a0050c0102t0002g0099 a0076c0126t0001g0169	21	338	0.0621	411	c.300 others(428): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(404): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp2 HG03491.hp2 others(1): Show HG00597.hp1 HG02056.hp2 HG03491.hp2 NA19002.hp2	a0001 a0034 a0001 a0034	a0001c0001 a0034c0105 a0001c0001 a0034c0105	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0034c0105t0007	a0001c0001t0001g0327 a0001c0001t0002g0097 a0001c0001t0005g0268 others(1): Show a0001c0001t0001g0327 a0001c0001t0002g0097 a0001c0001t0005g0268 a0034c0105t0007g0058	4	338	0.0118	411	c.300 others(428): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(404): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0007 a0002c0014t0007	a0002c0014t0007g0083 a0002c0014t0007g0083	1	338	0.0030	411	c.300 others(428): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(404): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGA GGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	386	0.0026	411	c.803 others(425): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACG GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CD300A_chr17_74461634_74489794	74482699	T T	TTCCTTCC others(404): Show TTCCTTCCTTCCTTCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTTCT TCCTTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCTCTCTTTCTTCTCTC TTTCTCTCTTCTCTCTCTTTCTCTCTTTCTCTCTTTCCTCTTTCTCTCTT TCTCTCTCTCTCCTTTCTCCTTTCTCTTGTCTCTCCTCTTTCTCTCTTTC TCTCTTTCTCTCTTTCCTCTTTCTCTCTCTCTCTTCTCTCTTTCTCTCTT TCTCTCTTTCTCCTCTCTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0240 a0002c0003t0004g0240	1	424	0.0024	411	c.774 others(426): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCCTTCCTTC CTTCCTTCCTTCCTTTCTTCCTTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCTCTCTTTCTTCTCTCTTTCTCTCTTCTCTCTCTTTCTCTCTTTCTCT CTTTCCTCTTTCTCTCTTTCTCTCTCTCTCCTTTCTCCTTTCTCTTGTCT CTCCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCCTCTTTCTCTCTCTCT CTTCTCTCTTTCTCTCTTTCTCTCTTTCTCCTCTCTTCTTTCTCTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCCTCC others(404): Show CCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCTCCCTCTCCCTCCCC TCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCCTCCCCCTCCTCTCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CTTCCCTCCTCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	256	0.0039	411	c.-45 others(432): Show c.-455+14573_-455+14574insCTCCCCCTCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCTCCC TCTCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCTTCCCTCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(404): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCT CCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	256	0.0039	411	c.-45 others(432): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCC TCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH23_chr10_71391920_71820947	71420488	G G	GTGATGAT others(404): Show GTGATGATGATGGTGATAGTGATGATGATGGTGATAGTGATGATGATGGT AATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGATGATGA TGATGATGGTGATGGTAATGGTGATGGTGATGATGATGATGATGGTGATG ATGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGATGATGAT GATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGATGGTGATGG TGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATGATGATGGTG ATGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGT GATGATGATGGTGATGATGATGGTGATGGTGATGGTAATGGTGATGGTGA TGATGATTGTGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01123.hp2 HG02257.hp2 others(6): Show HG01069.hp1 HG01123.hp2 HG02257.hp2 HG02280.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2	a0001 a0003 a0010 others(6): Show a0001 a0003 a0010 a0020 a0046 a0048 a0059 a0083 a0085	a0001c0001 a0003c0090 a0010c0146 others(6): Show a0001c0001 a0003c0090 a0010c0146 a0020c0159 a0046c0151 a0048c0152 a0059c0157 a0083c0065 a0085c0103	a0001c0001t0032 a0003c0090t0001 a0010c0146t0009 others(6): Show a0001c0001t0032 a0003c0090t0001 a0010c0146t0009 a0020c0159t0019 a0046c0151t0034 a0048c0152t0019 a0059c0157t0029 a0083c0065t0033 a0085c0103t0001	a0001c0001t0032g0037 a0003c0090t0001g0194 a0010c0146t0009g0042 others(6): Show a0001c0001t0032g0037 a0003c0090t0001g0194 a0010c0146t0009g0042 a0020c0159t0019g0039 a0046c0151t0034g0036 a0048c0152t0019g0035 a0059c0157t0029g0182 a0083c0065t0033g0038 a0085c0103t0001g0190	9	196	0.0459	411	c.-5- others(428): Show c.-5-19331_-5-19330insATGGTGATAGTGATGATGATGGTGATAG TGATGATGATGGTAATGGTGATGGTGATGATGATGATGGTGATGGTAATG GTGATGATGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATGAT GATGATGGTGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGG TGATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATGGTG ATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGTGAT GATGATGATGGTGATGATGATGGTGATGGTGATGATGATGATGGTGATGG TAATGGTGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGGTA ATGGTGATGGTGATGATGATTGTGATGATGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFD_chr19_854664_868641	866701	C C	CGCGGGCC others(404): Show CGCGGGCCCACACCCCCTCACCAGCGCTCCCCATCTCCTCTCCGTCCGCC CACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCAC CCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCA CCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCC ACCCGCCGCGGGCCCACACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTC CACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGT CCACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCG TCCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTC CGTCCACCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	1	287	0.0035	411	c.34 others(422): Show c.3463_*3464insGCGGGCCCACACCCCCTCACCAGCGCTCCCCATC TCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCAT CTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCA TGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCC ATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCTCGCCAGCGCTCC CATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTC CCATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCGCCAGCGCT CCCATGTCCTCCCCGTCCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCG CTCCCATCTCCTCTCCGTCCACCCACT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3061		chr19	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(404): Show ATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAAT ATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATA AAATATTTTATT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	402	0.0025	411	c.80- others(426): Show c.80-5002_80-5001insAATATATAAAATAAATATTTATTTTAATAT TAAAATAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAAT AAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAAT AAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAAT AAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAAT AAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATT TTAATATATAAAATATTTTATTTATTTATTT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CMIP_chr16_81439808_81716762	81704495	G G	GCCCCCTC others(404): Show GCCCCCTCACCCTCCTCTCTCTTTTCCCCTCACCCTCCTCCCTGCCCACT CACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCT CCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGCCCC CCTCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCTCCT CCCTGCCCCCTCACCCTCCTCTCTTTCCCCCTCACCCTCCTCCCTGCCCC CTCACCCTCCTCCCTGCCCCCCTTACTCTCCCTCCCTGCCCCTTCACCCT CCTCCCTGCTCCCCTCACCCTCTTTCCCTGCCCCCTCCCCCCTCCTCCCT GCCCCCTCCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACC CTCCTCCCTGCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	268	0.0037	411	c.209 others(428): Show c.2091+429_2091+430insCTTTTCCCCTCACCCTCCTCCCTGCCCA CTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTC CTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGCC CCCCTCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCTC CTCCCTGCCCCCTCACCCTCCTCTCTTTCCCCCTCACCCTCCTCCCTGCC CCCTCACCCTCCTCCCTGCCCCCCTTACTCTCCCTCCCTGCCCCTTCACC CTCCTCCCTGCTCCCCTCACCCTCTTTCCCTGCCCCCTCCCCCCTCCTCC CTGCCCCCTCCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCA CCCTCCTCCCTGCCCCCCCTCACCCTCCTCTCT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(404): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGG GACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGG GAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAG AGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAA GGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAAGGGAAGGGGAGGGA AGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGAGGGG GAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01074.hp2 others(3): Show HG00280.hp1 HG00733.hp1 HG01074.hp2 HG01192.hp2 HG03490.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0067 others(3): Show a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0085 a0001c0002t0001g0097	6	308	0.0195	411	c.637 others(426): Show c.637+147_637+148insTGCCCTCCCCTCCCCCTCCTCCCCTTCCCC TCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTCC CCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCCTC CCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCC CATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAG TCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCC CTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCC TCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCT TCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL21A1_chr6_56051590_56252580	56098010	T T	TATAAATA others(404): Show TATAAATATATATGTAAATATATAAATATATATAAATAAATATATATAAA TATATATAAATATAAATATATATATAAATATGTAATTCTAAATATATATG TAAATATATATAAATATAAATATATTTATAAATATATAAATATATATATA TTTATAAATATATAAATATATATATATTTATAAATATATAAATATATATA TATTTATAAATATATAAATATATATAAAAATATATATAAATATATAAAAA ATATAAATATATATAAATATATAAATATATGTAAATATATATAAATATAT ATATAAATATATATATAAATATATATATAAATATATATATAAATATATAT ATATAAATATATATAAATATATAACTATATAAATAAATATATATAAATAT ATAAATATATAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	264	0.0038	411	c.181 others(430): Show c.1812+3461_1812+3462insTTATATATTTATATATTTATATATAT TTATTTATATAGTTATATATTTATATATATTTATATATATATATTTATAT ATATATTTATATATATATTTATATATATATTTATATATATATTTATATAT ATTTACATATATTTATATATTTATATATATTTATATTTTTTATATATTTA TATATATTTTTATATATATTTATATATTTATAAATATATATATATTTATA TATTTATAAATATATATATATTTATATATTTATAAATATATATATATTTA TATATTTATAAATATATTTATATTTATATATATTTACATATATATTTAGA ATTACATATTTATATATATATTTATATTTATATATATTTATATATATTTA TTTATATATATTTATATATTTACATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(404): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATGGAGGGCATGTGAGGATCA TGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGAC ATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGAT CATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGAC GTGAGGATCATGGGGACGTGTGAGGATCATGGGGGGGACGTGTGAGGATC ATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACCC GTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0072 a0001c0010t0005g0072	1	128	0.0078	411	c.177 others(428): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATG GAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACAT GTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCA TGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGACG TGAGGATCATGGGAAGACGTGAGGATCATGGGGACGTGTGAGGATCATGG GGGGGACGTGTGAGGATCATGGGGGGACCCGTGAGGGTCATGGGGGGACG TGAGGATTGGGGGGACCCGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COLGALT2_chr1_183930834_184042728	183994050	T T	TTGAGACA others(404): Show TTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGAT CTCGGCTCACTGCAAACTCCAGCTCCCGGGTTCACACCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACACTCTACTA ATTTTTTGTATTTTTGGTAGAGACAGGGTTTCACCGTGTGAGCCAGAATG GTCTTGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGC TGGGATTACAGGCATGAGCCACCGCACCTGGCCTCTCCTTTAATTCTTAC AACATCCTAGGAAGTAGGTATTCTCCGTATCTTATGGATGAGAAAATAGT TACAAAGCTAGTAAGTAATGGATCCACGATTCAAGCCTAATTAACCCTGC AAATTATTATTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG06807.hp1 HG02630.hp1 HG02886.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010	a0001c0001t0007g0236 a0001c0001t0009g0204 a0001c0001t0010g0326 a0001c0001t0007g0236 a0001c0001t0009g0204 a0001c0001t0010g0326	3	340	0.0088	411	c.264 others(430): Show c.264-15531_264-15530insTAATAATAATTTGCAGGGTTAATTAG GCTTGAATCGTGGATCCATTACTTACTAGCTTTGTAACTATTTTCTCATC CATAAGATACGGAGAATACCTACTTCCTAGGATGTTGTAAGAATTAAAGG AGAGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGTGGGTGGATCACGAGGTCAGGAGATCAAGACCATTCTGGCTCACA CGGTGAAACCCTGTCTCTACCAAAAATACAAAAAATTAGTAGAGTGTGGT GGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG TGTGAACCCGGGAGCTGGAGTTTGCAGTGAGCCGAGATCACACCACTGCA CTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCA	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
CSF2RA_chrX_1263814_1314935	1281056	T T	TCTCCTCC others(404): Show TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCC TGCTCCCCTTCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTGCTCCTCC TCCTCCAGCTCCCCTTCTCCTCCTACTCCTCCTTCTCCTCCTTCTCCTTC TCCTCCTTCTCCTCTTCCTTCTTCTCCTCCTCCTGCTCCTTCTCCTCCTC TTCCTCCTACTCCTCCTTCTCTTCCTTCTCCTCCTCCTCCTTCTCCTCTT CCTCCTTCTCCTCTTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCC CTCTCCTCCTCCTCCGCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTT CTCCTCCTCCTCCTTCTCCTCCTCCTCATTCTCCTCCTGCTCCCCTTCTC CTCCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02155.hp2 NA18954.hp2 others(5): Show HG00423.hp1 HG02155.hp2 NA18954.hp2 NA18975.hp1 NA18980.hp2 NA19012.hp2 NA19064.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0002g0071 others(5): Show a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0002g0071 a0001c0001t0002g0102 a0001c0001t0004g0049 a0001c0002t0001g0052 a0001c0002t0003g0059 a0001c0002t0004g0110	8	159	0.0503	411	c.-26 others(428): Show c.-26-1587_-26-1586insCCTCCTTCTCCTCCTGCTCCCCTTCTCC TCCTCCTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCAGCTCCCC TTCTCCTCCTACTCCTCCTTCTCCTCCTTCTCCTTCTCCTCCTTCTCCTC TTCCTTCTTCTCCTCCTCCTGCTCCTTCTCCTCCTCTTCCTCCTACTCCT CCTTCTCTTCCTTCTCCTCCTCCTCCTTCTCCTCTTCCTCCTTCTCCTCT TCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCCTCTCCTCCTCCTC CGCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTCATTCTCCTCCTGCTCCCCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1281056	T T	TCTCCTCC others(404): Show TCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCC TGCTCCCCTTCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTGCTCCTCC TCCTCCAGCTCCCTTTCTCCTCCTACTCCTCCTTCTCCTCCTTCTCCTTC TCCTCCTTCTCCTCTTCCTTCTTCTCCTCCTCCTGCTCCTTCTCCTCCTC TTCCTCCTACTCCTCCTTCTCTTCCTTCTCCTCCTCCTCCTTCTCCTCTT CCTCCTTCTCCTCTTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCC CTCTCCTCCTCCTCCGCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTT CTCCTCCTCCTCCTTCTCCTCCTCCTCATTCTCCTCCTGCTCCCCTTCTC CTCCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	159	0.0063	411	c.-26 others(428): Show c.-26-1587_-26-1586insCCTCCTTCTCCTCCTGCTCCCCTTCTCC TCCTCCTTCTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCAGCTCCCT TTCTCCTCCTACTCCTCCTTCTCCTCCTTCTCCTTCTCCTCCTTCTCCTC TTCCTTCTTCTCCTCCTCCTGCTCCTTCTCCTCCTCTTCCTCCTACTCCT CCTTCTCTTCCTTCTCCTCCTCCTCCTTCTCCTCTTCCTCCTTCTCCTCT TCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCCTCTCCTCCTCCTC CGCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTCCTCATTCTCCTCCTGCTCCCCTTCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CTNS_chr17_3631760_3668103	3656383	T T	TCTGCCCT others(404): Show TCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCTGCCCTGCCCCTC CACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGT CCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCT CTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCTGCCCTGCCCCTCC ACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTC CTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTC TGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCTGCCCTGCCCCTCCA CCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCC TTACCCCCCACC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0008 a0003c0005t0008	a0003c0005t0008g0041 a0003c0005t0008g0041	1	372	0.0027	411	c.462 others(424): Show c.462-96_462-95insTCCCTCCACCCCTGCCAGTCTTCACCCCTGCC CTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCC CTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGT CCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCTGCCC TGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCC TCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTC CTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCTGCCCT GCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCT CGCCAGTCCTTACCCCCCACCCTGCCCTG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
DCLK2_chr4_150073445_150262438	150251133	T T	TCCCCCAC others(404): Show TCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCACACCCCC CACATCCCCCACACCTCCCACATCCCCCCACATCCCCCACACCCCCACAC ATCCCCACACCCCCCACACATCCCCCACACCCCCCAAATCCCCCACACCC CCCAAATCCCCCACACCCCCCACATCCCCCCACACCCCCACACATCCCCA CACCACACATCCCTCACACCCCCCACATCCCCCACACCCCCCACATCCCC CACACCCCCCACATCCCCCACACCCCCCACACCCCCCACACATCCCCCAC ACCCCCCACATCCCCCACATCCCCCACACCCCCCACACATCCCCCACACC CCCCACATCCCCCACATCCCCCACACCCCCCACACATCCCCCACATCCCC CACATCCCCCAC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	116	0.0086	411	c.207 others(430): Show c.2073+1449_2073+1450insCCCCCACACCCCCAAATCCCCCACAC CCCCCACATCTCCCCACACCCCCCACATCCCCCACACCTCCCACATCCCC CCACATCCCCCACACCCCCACACATCCCCACACCCCCCACACATCCCCCA CACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCCACATCC CCCCACACCCCCACACATCCCCACACCACACATCCCTCACACCCCCCACA TCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCC CACACCCCCCACACATCCCCCACACCCCCCACATCCCCCACATCCCCCAC ACCCCCCACACATCCCCCACACCCCCCACATCCCCCACATCCCCCACACC CCCCACACATCCCCCACATCCCCCACATCCCCCAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DNAJB6_chr7_157332004_157422439	157369632	A A	AGGCCCTT others(404): Show AGGCCCTTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTA TTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACAT TATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCAT AACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCT TTCATAATGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACA GGCCCCTTCTCAACATTATTATTAAACAGGCCCCTTCTTAACATTATTAT TAAACGGGACCCTTCTTAAGATTATTAAACGGGCCCTTTCTTAACATTAT TATTAAACAGGCCCCTTCTTAACATTATTATTAAACGGGACCCTTCTTAA GATTATTAAACG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	372	0.0027	411	c.346 others(428): Show c.346+2355_346+2356insTGTTATTATTAAACGGGCCCCTTCTTAA CATTATTATTAAACAGGCCCCTTCTCAACATTATTATTAAACAGGCCCCT TCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCC CTTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAA CGGGACCCTTCTTAAGATTATTAAACGGGCCCTTTCTTCACATTATTATT AAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTA TTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTA ACATTATTATTAAACAGGCCTTTCATAACATTATTATTAAACGAGCCCCT TCTTAACATCATTATTAAACAGGCCTTTCATAA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK1_chr10_126900428_127457516	126947340	T T	TTGGTGAT others(404): Show TTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGG TGGTTGGTAGTATTACTGTTGTTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0066 a0003c0003t0004g0066	1	136	0.0074	411	c.47- others(428): Show c.47-23323_47-23322insGTGGTGGTGGTGGTTGGTAGTATTACTG TTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89634802	C C	CCCTTCCT others(404): Show CCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC ATTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCT TTCTCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCC TTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	250	0.0040	411	c.105 others(428): Show c.105-1104_105-1103insTTCCTTCCCTTTCCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCATTCCTTCTCCTTTCCCCTTCCTTCCCTTTC CCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCCTTCCTTCTCCTTTCTCTTCCTTCCCTTTCCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556306	G G	GTATATAT others(404): Show GTATATATATAGTATATATATAGTATATATATAGTATATATATACTATAT ATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATATAGTATATATATAGTATATATATATAGTGTATATATA GTATATATATAGTGTATATATATAGTATATATATAGTGTATATATAGTAT ATATAGTATATATGTATATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATATAGTATATATATAGTATATATATATAGT ATATATATAGTA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	316	0.0032	411	c.355 others(430): Show c.355-25653_355-25652insGTATATATATAGTATATATATAGTAT ATATATACTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATAGTATATATATAGTATATATATATAGTATATA TATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATA TAGTGTATATATAGTATATATATAGTGTATATATATAGTATATATATAGT GTATATATAGTATATATAGTATATATGTATATATATATAGTATATATATA GTATATATATATAGTATATATATAGTATATATATATAGTATATATATAGT ATATATATATAGTATATATATAGTATATATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(404): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATAGTATATATATATAGTATATA TATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGTATA TATATAGTATATATATAGTATATATATAGTATATATAGTATATATGTATA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATATAGTATATATATAGTATATATATAGTATATATATATA GTATATATATAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	316	0.0032	411	c.355 others(430): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATA TATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATA TAGTATATATGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(404): Show AGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0146 a0003c0002t0001g0146	1	288	0.0035	411	c.190 others(430): Show c.1909+7088_1909+7089insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(404): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0186 a0003c0002t0001g0186	1	288	0.0035	411	c.190 others(430): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar

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Search Results (Total: 10000 hits)