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
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(654): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCATGGGGAGGGGGATCC TCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGG GGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAG GGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCA CGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATC CTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGAGG GGGGATCCTCAGGGGGAAGGGGGATCCTCACGGGGAGGGGGATCCTCACG GGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCT CACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGAGGGG GGATCCTCACGGGGAAGGGGGATCCTCCAAGGGGAGGGGGATCCTCACGG GGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCCTCAT GGGGAGGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGAT CCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0055 a0001c0006t0001g0055	1	58	0.0172	661	c.234 others(682): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAG GGGGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCC TCACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGAT CCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGG ATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGG GGGATCCTCCTCAGGGGGAGGGGGGATCCTCAGGGGGAAGGGGGATCCTC ACGGGGAGGGGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGAT CCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGG GATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGGAAGGGGGATCCTCCA AGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTGGATCC TCACGGGGAGGGGATCCTCATGGGGAGGGGGGATCCTCAGAGGGAGGGGG GATCCTTGGGGGGAGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(654): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTGG AGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCT CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCA CTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0041 a0002c0010t0041	a0002c0010t0041g0269 a0002c0010t0041g0269	1	324	0.0031	661	c.110 others(678): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAG GCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGG GTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC ACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(654): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTGG AGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCT CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCA CTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp1 HG02723.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0067 a0001c0001t0019g0285 a0001c0001t0019g0067 a0001c0001t0019g0285	2	324	0.0062	661	c.110 others(678): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAG GCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGG GTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC ACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CROCC2_chr2_240901336_240998311	240924912	G G	GCCCCCCA others(654): Show GCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTGAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTG ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACAC TACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACA CTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCC CACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTC CCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGAC CCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCA CACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02071.hp2 HG02109.hp1 others(8): Show HG01109.hp1 HG02071.hp2 HG02109.hp1 HG03453.hp1 HG03471.hp2 HG03710.hp2 HG04228.hp2 NA18948.hp2 NA18963.hp2 NA18994.hp1 NA19088.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0062	a0001c0001 a0002c0002 a0002c0011 others(2): Show a0001c0001 a0002c0002 a0002c0011 a0008c0008 a0062c0095	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0008c0008t0002 a0062c0095t0002	a0001c0001t0002g0267 a0002c0002t0001g0168 a0002c0002t0002g0260 others(8): Show a0001c0001t0002g0267 a0002c0002t0001g0168 a0002c0002t0002g0260 a0002c0011t0002g0243 a0002c0011t0002g0297 a0002c0011t0002g0332 a0002c0011t0002g0334 a0008c0008t0002g0262 a0008c0008t0002g0270 a0008c0008t0002g0337 a0062c0095t0002g0298	11	350	0.0314	661	c.489 others(676): Show c.489-807_489-806insCACACTAACCCAGTCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACC CAGTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCAC ACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCC CCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGC CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCC AGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924912	G G	GCCCCCCA others(654): Show GCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTGAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTG ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACAC TACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACA CTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCC CACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTC CCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGAC CCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCTGGCCCCCCACACTAACCCAGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCA CACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	350	0.0029	661	c.489 others(676): Show c.489-807_489-806insCACACTAACCCAGTCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACC CAGTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCAC ACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCC CCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGC CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCC AGTCCCCACACTGACCCAGCCCCCACACTAACCTGGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924912	G G	GCCCCCCA others(654): Show GCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTGAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTG ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACAC TACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACA CTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCC CACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTC CCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGAC CCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCA CACTAACCCAGC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0254 a0008c0008t0002g0254	1	350	0.0029	661	c.489 others(676): Show c.489-807_489-806insCACACTAACCCAGTCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACC CAGTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCAC ACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCC CCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGC CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCC AGTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924912	G G	GCCCCCCA others(654): Show GCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACTGAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTG ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACAC TACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACA CTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCC CACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTC CCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGAC CCAGCCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCA CACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0251 a0008c0008t0002g0251	1	350	0.0029	661	c.489 others(676): Show c.489-807_489-806insCACACTAACCCAGTCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACC CAGTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCAC ACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCC CCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGC CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTGACCCAGCCCCCACACTAACCC AGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924947	G G	GTCCCCAC others(654): Show GTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACC CAGTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACT AACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCAC ACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCC CCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGC CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCC AGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACT AACCCGGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCCA CACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01433.hp2 HG01496.hp2 others(5): Show HG00140.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02683.hp1 HG03688.hp1 HG03710.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0012 others(1): Show a0001c0001 a0002c0002 a0002c0012 a0008c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0012t0002 a0008c0008t0002	a0001c0001t0001g0058 a0001c0001t0003g0064 a0001c0001t0004g0285 others(5): Show a0001c0001t0001g0058 a0001c0001t0003g0064 a0001c0001t0004g0285 a0002c0002t0001g0060 a0002c0012t0002g0292 a0002c0012t0002g0293 a0002c0012t0002g0294 a0008c0008t0002g0286	8	350	0.0229	661	c.489 others(676): Show c.489-777_489-776insTCCCCACACTGACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCCCCACAC TGACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACA CTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCC CACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCC CCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAG CCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCC GGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCC ACACTATCCCGGCCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
DDX51_chr12_132131594_132149319	132149212	C C	CGCCGCCT others(654): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACC ACACCCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0010 a0007c0008t0001g0010	1	334	0.0030	661	c.-49 others(672): Show c.-4917_-4916insCGCACTCACCGAGGGGATTAGGGGTGTGGTAGGA GTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGG CGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCCG CACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCCGCACTCA CCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGG GGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGC CGCACTCACCGAGGGGATTAGGGGGTGTGGTGTGAGTGAGGCGGCCGCAC TCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCG AGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCACTCACCGAGGGGA TTAGGGGTGTGGTGTGAGCGAGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4894		chr12	TogoVar
DPP6_chr7_154047398_154899285	154063328	C C	CCCCCCCG others(654): Show CCCCCCCGGCTTAGGGCCCCCATCGTTGATCCTAAGATCCTTAGGACCCA CCTGGAGGACTGTGGGTATTAGGTGTCCAAGTAGAGAGTTCACATCTTCT GACGGCAGGTACCTTACGTGGGGTTTACGATCCGACGGTCCGAACGCAGC TCGGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGG CAGAAGGCAGGTGAGAGAATTCTTAGGAGCTGTGGGGTTTTGTAGACTGT GGATCCCAAACTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAAAGGG GGCGGGGATCCGGAACTTTTGAAATGGGGAACCCAACAACAGCAAGTTTT TCATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCG ATCTGACAAAGCCTTTTCCATTGTATGCATCAGAGAGAGAAAAGATGGCA GCTGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGTAGCCTA CGTCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTTGA GGGCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTCATT CTTGGGCAAAACCTGAACATAAAGGGCCCCCATTTTGTGATGGCTGAGAT CCATCCCCTCTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0002 a0002c0002t0029g0002	1	38	0.0263	661	c.243 others(680): Show c.243+10265_243+10266insCCCCCCGGCTTAGGGCCCCCATCGTT GATCCTAAGATCCTTAGGACCCACCTGGAGGACTGTGGGTATTAGGTGTC CAAGTAGAGAGTTCACATCTTCTGACGGCAGGTACCTTACGTGGGGTTTA CGATCCGACGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCAGGTTATT TGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCTTAGG AGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTGCAGTATTAGCCAAG CCTTTGTATGAGGTCACAAAGGGGGCGGGGATCCGGAACTTTTGAAATGG GGAACCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTCTGGC AGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCATTGTATG CATCAGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAACTGTGGGG CCCTGGCTGAGGCCGGTAGCCTACGTCTCTAAACAACTAGACAGGGTTGC TAAAGGATGGCCCCCCTATTTGAGGGCCTTGGCAGCAACTGCCCTGCTAG TACAAGAAGCAAATAAGCTCATTCTTGGGCAAAACCTGAACATAAAGGGC CCCCATTTTGTGATGGCTGAGATCCATCCCCTCTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(654): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(65): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01496.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02615.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04228.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18966.hp1 NA18967.hp2 NA18971.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18997.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19062.hp2 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0010 a0003c0008 others(1): Show a0001c0002 a0002c0010 a0003c0008 a0004c0011	a0001c0002t0001 a0001c0002t0002 a0002c0010t0002 others(2): Show a0001c0002t0001 a0001c0002t0002 a0002c0010t0002 a0003c0008t0001 a0004c0011t0001	a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0016 others(17): Show a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0002g0061 a0001c0002t0002g0062 a0002c0010t0002g0032 a0003c0008t0001g0030 a0004c0011t0001g0069	68	364	0.1868	661	c.127 others(676): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCT CCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATCT GCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCA CCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCA CCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCA CCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCCA CCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCA CCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(654): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGATGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAAGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	364	0.0028	661	c.127 others(676): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCT CCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATCT GCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCA CCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCA CCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCA CCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCCA CCGTCTCCCACCACTTCCCACCACTTCCCACTGTCTCCCACCACCTCCCA CCATCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(654): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGATGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCATG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0099 a0001c0016t0001g0099	1	364	0.0028	661	c.127 others(676): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCT CCCACCGTCTCCCACCACCTCCCACCATCTCCCATGACCTCCCACCATCT GCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCA CCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCA CCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCA CCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCCA CCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCA CCATCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(654): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGATGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02922.hp1 HG02976.hp2 others(3): Show HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0031 a0001c0004t0001g0017 a0001c0004t0001g0093 a0001c0002t0001g0031 a0001c0004t0001g0017 a0001c0004t0001g0093	6	364	0.0165	661	c.127 others(676): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCT CCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATCT GCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCA CCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCA CCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCA CCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCCA CCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCA CCATCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(654): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGG GAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAG GGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGTGAAGGGAG GAGGGGGGGGGTGGGTGTGAAGGGAGAGGAGGGGGGAAGGGAGGGAGGAG GGTGTGAAGGGGAGGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAGGAGG GGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGG AGGAGGGTGTGAAGGAGGAGGAGGGAGGGGGAGAGGGTGTGAAGGGAGGA AGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGT GTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAAGAGGGAGGGGA GGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGA GGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	294	0.0034	661	c.-38 others(672): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGG AGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGT GAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAG GGTGTGTGAAGGGAGGAGGGGGGGGGTGGGTGTGAAGGGAGAGGAGGGGG GAAGGGAGGGAGGAGGGTGTGAAGGGGAGGGAGGGAGGGGAGGAGGGTGT GAAGGGAGGAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGA GGGGAGGAGGGAGGGAGGAGGGTGTGAAGGAGGAGGAGGGAGGGGGAGAG GGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAG GAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGA GGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGG GAAAGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAG AGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282457	G G	GGGGAGAT others(654): Show GGGGAGATGGGAGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGG AAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTG AAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGG GAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAA GGAGGGGAGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGG AGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGA GAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGA AGGGAGGAGGGAGGAGAGGGGGAGGGAGGAGGGTGTGAAGGAGGAGGGAG GGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGA AGGGGAAGGAGGGAGGGGAGGGATTGGAAAGGGGAGGAAGGTGTAAAAGA GGAGAGAGGAAGGAAGGGAGGGGGTATTAATGGGGAAGAGAGTGGGAAGG GGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGG AGAAGGGTGGGAAGGGGAGGAAGGAGAGAGGGAGGGAGGGGAAGGTGTGA AGGAAGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	254	0.0039	661	c.36 others(672): Show c.3680_*3681insGGGAGATGGGAGGAAGTAGGGAGGGGAGGGAGGG GAAAGGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGG AGGGAGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGG AGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGG GTGTGAAGGGAGGAAGGAGGGGAGAGAGGGAGGAGGGTGTGAAGGGAGGA GGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGG AGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGA GGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGGGGAGGGAGGAGGGTG TGAAGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGA GGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGGATTGGAAAGGGGA GGAAGGTGTAAAAGAGGAGAGAGGAAGGAAGGGAGGGGGTATTAATGGGG AAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGGAA GGAAGGAGGGAGGGGAGAAGGGTGGGAAGGGGAGGAAGGAGAGAGGGAGG GAGGGGAAGGTGTGAAGGAAGGAGGGA	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3230		chr19	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(654): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATATATTTATATATATATAAATATATATATATTTGTATATATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATATA TATATACATATAAATATATATTTATATATATATAAATATATATATATTTA TATATATATACATATAAATATATATTTATATACATATAAATATATAATTA TATACATATAAATATATAATTATATACATATAAATATATATAATTATATA CATATAAATATATATTTATATACATATAAATTTATATACATATAAATATA AATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0126 a0002c0002t0002g0126	1	292	0.0034	661	c.49 others(672): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATTTATATGTATATATATATAAATATATATATATTTA TATATATATAAATATATATATATTTATATATATATACAAATATATATATA TTTATATATATATAAATATATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATATGTATATATTTATATGTATATAAATGTATA TATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GLOD4_chr17_754330_787280	768703	A A	AAGAAATC others(654): Show AAGAAATCTGGAGAGGACGTGAGAGAGAAACAGCGCGCACTCAGATTTTT AGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTC AGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGTG CGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGA AACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGA GAGAAACAACGCGCACTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACG TGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAG GATGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAGAAATCTGG AGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAAT CTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAG AAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTA GAAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGTGCGCACTCAG ATTTTTAGAAGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	420	0.0024	661	c.831 others(678): Show c.831+1165_831+1166insCCTTCTAAAAATCTGAGTGCGCACTGTT TCTCTCTCTCACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAG TGTGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATC TGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAA AATCTGAGTGTGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTC TAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTT CTTCTTCTAAAAATCTGAGTGCGCGTTGTTTCTCTCTCTCACATCCTCTC CAGATTTCTTCTAAAAATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCC TCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCACTGTTTCTCTCTCT CACGTCCTCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCGCTGTTTC TCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCTG TTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCGC GCTGTTTCTCTCTCACGTCCTCTCCAGATTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLOD4_chr17_754330_787280	768703	A A	AAGAAATC others(654): Show AAGAAATCTGGAGAGGACGTGAGAGAGAAACAGCGCGCACTCAGATTTTT AGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTC AGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGTG CGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGA AACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGA GAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACG TGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAG GACGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAGAAATCTGG AGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAAT CTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAG AAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTA GAAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGTGCGCACTCAG ATTTTTAGAAGG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	420	0.0024	661	c.831 others(678): Show c.831+1165_831+1166insCCTTCTAAAAATCTGAGTGCGCACTGTT TCTCTCTCTCACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAG TGTGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATC TGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAA AATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTC TAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTT CTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACATCCTCTC CAGATTTCTTCTAAAAATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCC TCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCACTGTTTCTCTCTCT CACGTCCTCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCGCTGTTTC TCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCTG TTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCGC GCTGTTTCTCTCTCACGTCCTCTCCAGATTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLOD4_chr17_754330_787280	768703	A A	AAGAAATC others(654): Show AAGAAATCTGGAGAGGACGTGAGAGAGAAACAGCGCGCACTCAGATTTTT AGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTC AGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGTG CGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGA AACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGA GAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACG TGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAG GATGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAGAAATCTGG AGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAAT CTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAG AAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTA GAAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGTGCGCACTCAG ATTTTTAGAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00642.hp1 others(48): Show HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01978.hp2 HG02055.hp2 HG02074.hp1 HG02132.hp1 HG02486.hp1 HG02738.hp1 HG02886.hp1 HG03490.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG04204.hp1 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18960.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18986.hp2 NA19002.hp1 NA19012.hp2 NA19079.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0008 a0003c0004 others(1): Show a0001c0001 a0001c0008 a0003c0004 a0004c0010	a0001c0001t0001 a0001c0008t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0003c0004t0001 a0004c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0039 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0207 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0008t0001g0243 a0003c0004t0001g0258 a0004c0010t0001g0244	51	420	0.1214	661	c.831 others(678): Show c.831+1165_831+1166insCCTTCTAAAAATCTGAGTGCGCACTGTT TCTCTCTCTCACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAG TGTGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATC TGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAA AATCTGAGTGTGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTC TAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTT CTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACATCCTCTC CAGATTTCTTCTAAAAATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCC TCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCACTGTTTCTCTCTCT CACGTCCTCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCGCTGTTTC TCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCTG TTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCGC GCTGTTTCTCTCTCACGTCCTCTCCAGATTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLOD4_chr17_754330_787280	768703	A A	AAGAAATC others(654): Show AAGAAATCTGGAGAGGACGTGAGAGAGAAACAGCGCGCACTCAGATTTTT AGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTC AGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGTG CGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGA AACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGA GAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACG TGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAG GATGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAGAAATCTGG AGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAAT CTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAG AAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTA GAAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGTGCGCACTCAG ATTTTTAGAAGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	420	0.0024	661	c.831 others(678): Show c.831+1165_831+1166insCCTTCTAAAAATCTGAGTGCGCACTGTT TCTCTCTCTCACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAG TGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATC TGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAA AATCTGAGTGTGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTC TAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTT CTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACATCCTCTC CAGATTTCTTCTAAAAATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCC TCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCACTGTTTCTCTCTCT CACGTCCTCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCGCTGTTTC TCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCTG TTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCGC GCTGTTTCTCTCTCACGTCCTCTCCAGATTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLOD4_chr17_754330_787280	768703	A A	AAGAAATC others(654): Show AAGAAATCTGGAGAGGACGTGAGAGAGAAACAGCGGGCACTCAGATTTTT AGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTC AGATTTTTAGAAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGTG CGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGA AACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGA GAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACG TGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAG GATGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAGAAATCTGG AGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAAT CTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAG AAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTA GAAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGTGCGCACTCAG ATTTTTAGAAGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG00738.hp1 others(8): Show HG00280.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01515.hp1 HG02683.hp2 HG03017.hp1 HG03239.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0043 a0001c0001t0001g0184 a0001c0001t0001g0206 others(7): Show a0001c0001t0001g0043 a0001c0001t0001g0184 a0001c0001t0001g0206 a0001c0001t0001g0230 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0281 a0001c0005t0001g0231 a0001c0005t0001g0232	11	420	0.0262	661	c.831 others(678): Show c.831+1165_831+1166insCCTTCTAAAAATCTGAGTGCGCACTGTT TCTCTCTCTCACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAG TGTGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATC TGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAA AATCTGAGTGTGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTC TAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTT CTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACATCCTCTC CAGATTTCTTCTAAAAATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCC TCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCACTGTTTCTCTCTCT CACGTCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCGCGCTGTTTC TCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCTG TTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCCC GCTGTTTCTCTCTCACGTCCTCTCCAGATTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLOD4_chr17_754330_787280	768703	A A	AAGAAATC others(654): Show AAGAAATCTGGAGAGGACGTGAGAGAGAAACAGCGGGCACTCAGATTTTT AGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTC AGATTTTTAGAAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGTG CGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGA AACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGA GAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACG TGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAG GATGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAGAAATCTGG AGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAAT CTGGAGAGGATGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAG AAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTA GAAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGTGCGCACTCAG ATTTTTAGAAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	420	0.0024	661	c.831 others(678): Show c.831+1165_831+1166insCCTTCTAAAAATCTGAGTGCGCACTGTT TCTCTCTCTCACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAG TGTGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTCTAAAAATC TGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAA AATCTGAGTGTGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTC TAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTT CTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACATCCTCTC CAGATTTCTTCTAAAAATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCC TCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCACTGTTTCTCTCTCT CACGTCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCGCGCTGTTTC TCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCTG TTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCCC GCTGTTTCTCTCTCACGTCCTCTCCAGATTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GLOD4_chr17_754330_787280	768703	A A	AAGAAATC others(654): Show AAGAAATCTGGAGAGGACGTGAGAGAGAAACAGCGGGCACTCAGATTTTT AGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGAT TTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTC AGATTTTTAGAAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGTG CGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAGA AACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGA GAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACG TGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAG GATGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGG AGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAAT CTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAG AAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTA GAAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGTGCGCACTCAG ATTTTTAGAAGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	420	0.0024	661	c.831 others(678): Show c.831+1165_831+1166insCCTTCTAAAAATCTGAGTGCGCACTGTT TCTCTCTCTCACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAG TGTGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATC TGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAA AATCTGAGTGCGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTC TAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTT CTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACATCCTCTC CAGATTTCTTCTAAAAATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCC TCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCACTGTTTCTCTCTCT CACGTCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCGCGCTGTTTC TCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCTG TTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCCC GCTGTTTCTCTCTCACGTCCTCTCCAGATTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(654): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00733.hp2 HG01934.hp1 others(25): Show HG00544.hp2 HG00733.hp2 HG01934.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02293.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG03041.hp1 HG03098.hp1 HG03486.hp1 HG03669.hp2 HG03927.hp2 NA18946.hp1 NA18969.hp1 NA18975.hp1 NA18980.hp2 NA18990.hp1 NA18992.hp2 NA18999.hp1 NA19010.hp1 NA19030.hp1 NA19057.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0027 a0001c0005t0004	a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0155 others(25): Show a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0004g0028 a0001c0001t0004g0067 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0146 a0001c0001t0004g0152 a0001c0001t0004g0263 a0001c0001t0008g0073 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0013g0044 a0001c0001t0014g0145 a0001c0001t0027g0015 a0001c0005t0004g0027	28	286	0.0979	661	c.52 others(672): Show c.5260_*5261insAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGGT GTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTCC TGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATGC CCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACA GGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCCA ACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTTA TTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATCT CCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCAA ATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTGT ATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCAT GTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCACT TTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAGA CCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCCA TCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(654): Show CAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCTC CAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATGG AAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAAA ATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAAT TGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTTT TGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATTC CAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGAG AAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAGT GGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCAT CTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTAA TCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAGG TGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCAA GGCTCTGTCTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02148.hp1 HG02148.hp2 others(8): Show HG00741.hp1 HG02148.hp1 HG02148.hp2 HG02976.hp2 HG03688.hp1 HG03927.hp1 NA18964.hp2 NA19006.hp1 NA19062.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020	a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0001t0002g0188 others(8): Show a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0211 a0001c0001t0002g0249 a0001c0001t0010g0223 a0001c0001t0011g0021 a0001c0001t0020g0190	11	286	0.0385	661	c.52 others(672): Show c.5260_*5261insTTAGACAGAGCCTTGCTCTGGCTGGAATGCAGTG GTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCT CCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCAT GCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGA CAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCC CAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTT TATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCAT CTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGC AAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCT GTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGC ATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCA CTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCA GACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTC CATCATCCACTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982661	A A	AAAAAAAA others(654): Show AAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCT CCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATG GAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAA AATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAA TTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTT TTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATT CCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGA GAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAG TGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCA TCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTA ATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAG GTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCA AGGCTCTGTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0077 a0001c0001t0004g0077	1	286	0.0035	661	c.52 others(672): Show c.5259_*5260insAAGACAGAGCCTTGCTCTGGCTGGAATGCAGTGG TGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTC CTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCATGTGCCACCATG CCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGAC AGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCGTTCGGCCTCCC AACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGCCTACAACTTTT ATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAGTTCCAACCATC TCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACTGAACAAGTGCA AATCTGAATACATTGTCTACTCCCCCAAAACATGCCACTTATCTTCTCTG TATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTATAACCTCGGCA TGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCCAGTTCTAGCAC TTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTGTCCTAGTTCAG ACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGATCATCTACCTCC ATCATCCACTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1058		chrX	TogoVar
LHFPL3_chr7_104323603_104913561	104824299	T T	TATAATAT others(654): Show TATAATATATTATATATTATATATTATATATATAATATATTATATATTAT ATATTATATATATATTATATTATATATTATATATAATTATATATATTTTA TATATTATATATTATATATTATATATTATATATTATATATATTATATATT ATATATTATATATTATATATATTATATATTATATATACAATTATATATAT TATATATATTATATATTATATAATATATTATATATATAATATATATTATA TATTATATATTATATAATATATTATATATATAATATATTATATATTATAT ATTATATAATATATTATATATTATATATATTATATATTATATATTATATA TTATATATATAATATATATTATATATTATATATTATATATATTATATATA TTATATATATTATATATAATATATATAATTGTATATATAATATATAATAT ATAATATATATAATATATAATATATAATATATAATATATATAATATATTA TATATAATATATAATATATAATATATATAATATATTATATATAATATATA ATATATAATATATATTATATATATAATATATTATATAATATATTATATAT ATAATATATATTATATATTATATACAATATATTATATATTATATACATTA TATATTATATAC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	86	0.0116	661	c.683 others(680): Show c.683-81886_683-81885insAATATATTATATATTATATATTATAT ATATAATATATTATATATTATATATTATATATATATTATATTATATATTA TATATAATTATATATATTTTATATATTATATATTATATATTATATATTAT ATATTATATATATTATATATTATATATTATATATTATATATATTATATAT TATATATACAATTATATATATTATATATATTATATATTATATAATATATT ATATATATAATATATATTATATATTATATATTATATAATATATTATATAT ATAATATATTATATATTATATATTATATAATATATTATATATTATATATA TTATATATTATATATTATATATTATATATATAATATATATTATATATTAT ATATTATATATATTATATATATTATATATATTATATATAATATATATAAT TGTATATATAATATATAATATATAATATATATAATATATAATATATAATA TATAATATATATAATATATTATATATAATATATAATATATAATATATATA ATATATTATATATAATATATAATATATAATATATATTATATATATAATAT ATTATATAATATATTATATATATAATATATATTATATATTATATACAATA TATTATATATTATATACATTATATATTATATACAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(654): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTATTTATATATATATTTATATATATATTATTTATATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0168 a0002c0002t0002g0168	1	260	0.0039	661	c.125 others(678): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TATTATTTATATATATATTTATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATTTATATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507279	T T	TGGGGGGG others(654): Show TGGGGGGGTAGACAGGATTTCAGTTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTG GGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGG TAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GTATTTCAGGTG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	260	0.0039	661	c.624 others(678): Show c.624+9161_624+9162insACAGGATTTCAGTTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAG GTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTG GGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGTATTTCAGGTGGGGGGGGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507525	G G	GGGGGGGT others(654): Show GGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGA GGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTCG GGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTCGGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGG GAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGATGTGGAGGGTAGAC AGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	260	0.0039	661	c.624 others(678): Show c.624+9400_624+9401insGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAG GGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGAGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTT CAGATGTGGAGGGTAGACAGGATTTCAGGTGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(654): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCT TTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTG GAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTC AAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG03098.hp1 HG01928.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0352 a0001c0001t0001g0072 a0001c0001t0001g0352	2	448	0.0045	661	c.56 others(672): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTA ACTGGATATAACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCGC CTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAGA GACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTG ATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC TGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCGTG GTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGAT CATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGT CTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGTA GTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(654): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCA AAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAACTGTT TAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAAAT TAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTGAG ATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTCAA AAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGTACCTTCTT TTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTG GAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTC AAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	448	0.0022	661	c.56 others(672): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGT AACTGGATATAACTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCTCCGC CTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAGTAGA GACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCCTGACCTCGTG ATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC TGCGCCTGGCGAGAACATTTTTTTTTTAAACAGTTAATTGGCCGGGCGTG GTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTGGAT CATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGT CTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGTGCCTGTA GTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
METRNL_chr17_83074609_83100122	83090298	A A	ACACACAC others(654): Show ACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAACCACACACCCCCG CCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAG GGTGGGAGCCACACACACACACCCCCCCACACACACACCCCGCCCCACAC ACACACCCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCC CGCCCCACACACACACACACCCCCGCCCCACACACACACACCCCCGCCCC GCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCA CACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCCCAGGGTGGG AGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACA CACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCCGCC CCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACC CCCCGCCCCACACACACACACACCCCCGCCCCACACACACACACCCCCCG CCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCGCCC CAGGGTGGGAAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0335 a0001c0001t0008g0335	1	399	0.0025	661	c.557 others(678): Show c.557-2862_557-2861insACCCCCCACCCCCCGCCCCAGGGTGGGA ACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCC ACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCCCACACACAC ACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCCCC ACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACACA CACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGCCC CAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGCCC CGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGT GGGAGCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACA CACACACCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCC CGCCCCACACACACACACACCCCCGCCCCACACACACACACCCCCCGCCC CACACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACAC ACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACACACACA CCCCCGCCCCGCCCCAGGGTGGGAACCACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(654): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTC CCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	140	0.0071	661	c.114 others(680): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCC ATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(654): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCTCCCGTCTCCCCTCCTCCCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTC CCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp2 HG04228.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0040 a0001c0001t0001g0080	2	140	0.0143	661	c.114 others(680): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCGTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCG TCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCC CTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCC ATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(654): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTATATAAGTATATATAAATATATATATTT CAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAA ATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAATAT AAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTAT AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATAT ATATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAA GTATGTATAAAAATATATATATTTAAATATAAGTATATATAAAAATATAT ATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTAT ATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0070 a0005c0005t0002g0070	1	326	0.0031	661	c.358 others(678): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTATATAAGTATATATA AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATA CATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAAGTA TATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATT TCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGTATA AAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAA TATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAAAATATATATATATTTAAATATAAGTATGTATAAAAATATATA TATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATT TAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(654): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCCACCCTCCCACCTTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCC CCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCC TCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTT CCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	326	0.0031	661	c.433 others(678): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAAGGGGAA GGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAAGGTGGGAGGGTGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTTCCTTC others(654): Show CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCT TCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCCT CCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCT TCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCC CTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCC TCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTT TCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0131 a0001c0002t0030g0131	1	178	0.0056	661	c.773 others(676): Show c.773+645_773+646insTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCC TCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCT CCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTC CCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTTCC TTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTT CCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTC CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC TTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCT TCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTTCCTTTCCTTCCTTTCCTTCCTTCCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(654): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGAC AGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGAT GGTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGG TGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAT GAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATG GTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGG TGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGAT TGTTGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTG ATGGTGATGGTGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGG TGATGGTGACTGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTGGTG ACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTG GTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGGTGGTGATGG TGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACGACA GTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00621.hp2 others(16): Show HG00140.hp2 HG00280.hp2 HG00621.hp2 HG00639.hp2 HG01070.hp1 HG01981.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02300.hp2 HG02559.hp1 HG02683.hp2 HG03017.hp1 HG03130.hp2 HG06807.hp2 NA18955.hp1 NA18975.hp2 NA19081.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0004c0004t0001 a0010c0012t0001	a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 others(13): Show a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0023 a0003c0003t0001g0004 a0004c0004t0001g0182 a0004c0004t0001g0183 a0010c0012t0001g0038	19	380	0.0500	661	c.255 others(680): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCATCACC ATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAACAATCA CCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCACCATCACCATC ACCACCATCACCATCACAACAGTCACCATCACCACCATCATCCCCACTCA TCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCAT CACCATCACCTTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(654): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCACCATCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCAC CACCACCATCACCACCACCATCACCATCACCATCACCACCATCATCATCA CCACCATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACC ACCACCAACATCATCATCATCACCATCACCACCACCATCACCACCACCAC CACCATCAACACCACCATCACCACCACCATCATCATCACCACCACCACCA TCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0019 a0011c0018t0019	a0011c0018t0019g0184 a0011c0018t0019g0184	1	322	0.0031	661	c.48 others(672): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGT GATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGA TGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGATGG TGGTGGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATGG TGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTG GTGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCT GGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGG TGGTGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGG TGATGGTGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGG TGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTG TTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PRDM16_chr1_3064203_3443621	3287456	C C	CGCCCCGC others(654): Show CGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGC CCCTGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCC CGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGC CACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCAC GCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCTGCCACGC GGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGGG CATCCAGGATTGCATTTACCGGGGCTGGAGGCGCCCCGCCACGCGGGCAT CCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCA GGATTGCATTTACCGGGGCTGGAGCCGCCCCTGCCACGCGGGCATCCAGG ATTGCATTTACCGGGGCTGGAGGCGCTCCGCCACGCGGGCATCCAGGATT GCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCA TTTACCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTT ACCGGGGCTGGAACCGCCCCGCCACGCGGACATCCAGGATTGCATTTACC GGGGCTGGAGCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0025 a0006c0023t0025	a0006c0023t0025g0007 a0006c0023t0025g0007	1	210	0.0048	661	c.438 others(680): Show c.438+43324_438+43325insGCCACGCGGGCATCCAGGATTGCATT TACCGGGGCTGGAGCCGCCCCTGCCACGCGGGCATCCAGGATTGCATTTA CCGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCG GGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGG CTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTG GAGCCGCCCCTGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGA GCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGGC GCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCC CCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCT GCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGGCGCTCCGCC ACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCACG CGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCACGCGG GCATCCAGGATTGCATTTACCGGGGCTGGAACCGCCCCGCCACGCGGACA TCCAGGATTGCATTTACCGGGGCTGGAGCTGCCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(654): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(67): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG01074.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02615.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 HG04228.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18997.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19062.hp2 NA19087.hp2 NA19091.hp1 NA20905.hp2 NA21309.hp2	a0002 a0005 a0007 others(2): Show a0002 a0005 a0007 a0009 a0011	a0002c0002 a0002c0009 a0002c0010 others(5): Show a0002c0002 a0002c0009 a0002c0010 a0005c0008 a0005c0014 a0007c0012 a0009c0013 a0011c0023	a0002c0002t0001 a0002c0009t0001 a0002c0010t0001 others(5): Show a0002c0002t0001 a0002c0009t0001 a0002c0010t0001 a0005c0008t0001 a0005c0014t0001 a0007c0012t0001 a0009c0013t0001 a0011c0023t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0011 others(7): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0009t0001g0013 a0002c0010t0001g0014 a0005c0008t0001g0019 a0005c0014t0001g0023 a0007c0012t0001g0015 a0009c0013t0001g0018 a0011c0023t0001g0027	70	382	0.1833	661	c.-25 others(672): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCT CCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCA CCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCA CCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCTCCCA CCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATCTGCCA GTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCACCAC TTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCGCCGT CTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCACCAC CTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCACCGT CTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCCACCGT CTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCACCGT CTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCACTAC CTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(654): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGATGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAAGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	382	0.0026	661	c.-25 others(672): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCT CCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCA CCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCA CCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCTCCCA CCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATCTGCCA GTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCACCAC TTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCGCCGT CTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCACCAC CTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCACCGT CTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCCACCGT CTCCCACCACTTCCCACCACTTCCCACTGTCTCCCACCACCTCCCACCAT CTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCACTAC CTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(654): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGATGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCATG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG01884.hp1 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0024 a0001c0006 a0002c0024	a0001c0006t0002 a0002c0024t0002 a0001c0006t0002 a0002c0024t0002	a0001c0006t0002g0022 a0002c0024t0002g0021 a0001c0006t0002g0022 a0002c0024t0002g0021	2	382	0.0052	661	c.-25 others(672): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCT CCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCA CCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCA CCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCTCCCA CCGTCTCCCACCACCTCCCACCATCTCCCATGACCTCCCACCATCTGCCA GTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCACCAC TTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCGCCGT CTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCACCAC CTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCACCGT CTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCCACCGT CTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCACCAT CTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCACTAC CTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(654): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGATGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAG GTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGGTGGTGGGAGG TGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02922.hp1 others(4): Show HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp2 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	7	382	0.0183	661	c.-25 others(672): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCACCTCCCACCGTC TCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCT CCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCA CCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCA CCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTCTCCCA CCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATCTGCCA GTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCCACCAC TTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCGCCGT CTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCACCAC CTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCACCGT CTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCCACCGT CTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCACCAT CTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCACTAC CTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	467526	G G	GTCAGGGA others(654): Show GTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCGGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGG TGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGG GGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAG GAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTG CTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGG CGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGA GGTGCTGGGGCC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	295	0.0034	661	c.809 others(678): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGG AGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGG TGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGG GGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTC AGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAG GAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTG CAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAG GGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(654): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC GTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGA GGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGGCCGCGT GGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGC CGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGG AGGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGGGGGCCGCG AGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGG GCCGCGTGGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGGCCGCGAGGG GAGGAGGGGGGCCGCGTGGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGGG GCCGCGAGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGGGCCGCGAGGGGA GGAGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	67	0.0149	661	c.159 others(678): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCTCGCGGCCCCC TCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGC GGCCCCCCTCCTCCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCCCCT CCTCCCCACGCGGCCCCCTCCTCCCCCACGCGGCCCCCTCCTCCCCACAC GGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCCTCCTC CCCACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCC CCTCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACA CGCCCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCCTCCT CCCCTCGCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTC CCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCA CGCGGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTC CTCCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGG CCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCC CATGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RGPD3_chr2_106398406_106473413	106467191	A A	AGAGCGCG others(654): Show AGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCAT CGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCC AGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCC GCAGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGC GCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGG GTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGG AGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCTG CCGCCACCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCGCGC CAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGC CGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAG CGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCA GGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGG GAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCAGGTCGAGGCC GCCGCCTCAACC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0217 a0003c0003t0005g0217	1	382	0.0026	661	c.72+ others(676): Show c.72+1025_72+1026insGGTTGAGGCGGCGGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTC GATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTC TGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAG GCGTCATGGCTCCCGACCGGCGCTGTTACCTGGCGCGCTCTGTTGAGGCG GCGGCGGCGGCCTCGACCTGGCCAGGTGGCGGCAGCCTCGACCTGGCCCT GCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCC CTGGCGCGCTCTGTGGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCT CGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCT CTGTTGAGGCGGCGGCCTCGACCCGGCCCTGCGGCGGCCTCGATGGCTCA GGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGC GGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGG CTCCCGACGGGCGCTGCTCCCTGGCGCGCTC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106467191	A A	AGAGCGCG others(654): Show AGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCAT CGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCC AGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCC GCAGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGC GCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGG GTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGG AGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCTG CCGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCGCGC CAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGC CGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAG CGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCA GGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCATCGG GAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCAGGTCGAGGCC GCCGCCTCAACC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0219 a0003c0003t0005g0219	1	382	0.0026	661	c.72+ others(676): Show c.72+1025_72+1026insGGTTGAGGCGGCGGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGATGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTC GATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTC TGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAG GCGTCATGGCTCCCGACCGGCGCTGTTACCTGGCGCGCTCTGTTGAGGCG GCGGCGGCGGCCTCGACCTGGCCAGGCGGCGGCAGCCTCGACCTGGCCCT GCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCC CTGGCGCGCTCTGTGGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCT CGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCT CTGTTGAGGCGGCGGCCTCGACCCGGCCCTGCGGCGGCCTCGATGGCTCA GGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGC GGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGG CTCCCGACGGGCGCTGCTCCCTGGCGCGCTC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar

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