Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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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
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(704): Show GAGGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGACGGAGGGAGGGTGGGA GGGAGGGAGACGGAGGGAGGGTGGGAGGGAGGGAGACGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGA GGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGACAGG GAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGG GAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGCAGGGAGAGGGG GAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGA GGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGG GAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGA GGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGA GGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGA GGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0021 a0001c0050t0021	a0001c0050t0021g0003 a0001c0050t0021g0003	1	132	0.0076	711	c.227 others(730): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTCCCTGCC TCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCTCCCACCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCG TCTCCCTCCCTCCCACCCTCCCTCCGTCTCCCTCCCTCCCACCCTCCCTC CGTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCC TCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCT TGCCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(704): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGGGGGA GGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGG GATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGG AGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGAGGGAGGGG GAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAA GGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGAGGAGGGAG GGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGAAGG GGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGGGGAGGAGG GAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGA GGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	352	0.0028	711	c.12 others(722): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTTT CCCCTTCCTTCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMOC2_chr6_168436184_168672992	168595195	G G	GGGCATCT others(704): Show GGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCT GACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATGGACGAGCTCCTCCTTCCTAAGGC CTCACAAGGGGCATCTTTCTAGAGGATCTCTGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCT AAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTC CTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCT TCCTGAGGCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03209.hp1 NA18522.hp1 HG01884.hp2 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0002t0014 a0001c0001t0006 a0001c0002t0002 a0001c0002t0014	a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0014g0005 a0001c0001t0006g0128 a0001c0002t0002g0004 a0001c0002t0014g0005	3	180	0.0167	711	c.638 others(728): Show c.638-3623_638-3622insGGCATCTTTCTAGAGGATCTCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGCT CCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCGGA GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCG AGCTCCTCCTTCCTAAGGCCTGACAAGGGGCATCTTTCTAGAGGATCTCC GAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGA CGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCT CTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATC GCCGAGCTCCTCCTCCTTCCTAAGGCCTCACGGGCATCTTTCTAGAGGAT CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAG GATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SPATA3_chr2_230991121_231013040	231005545	C C	CATCACCA others(704): Show CATCACCACCATGACCATCGTCACCACCACCATCATCACCACCATAATCA CCACCACCATCATCACCGTCACCATCATCACCACTACCATCACCACCACC ACCACCATCACCACCACCATCATCACCATCATCATATCACCATCATCATC ATCACAACCACCATCATCACCACCACCACCATCACCACAACCATCATCAT CATCATCACCACCACCACCATCATCACCATCATCATCACCATCACCATCA TCATAACCATCACTATCACCACCACCACCACCATCACCACCACCATCACC ATCATCACTGCCATCATCACCATCACCATCATCATCACCACCACCATCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCATCACCATCA CCACCACCACCATCACCATCATCACCGCCATCATCACCATCACCATCACC ACCACCATCGCCATCATCACCGCCATCATCACCATCACCATCACCACCAG CATCACCATCATCATCACCACCACCATCACCACCACCATCACCATCATCA CCGCCATCATCACCACAACCACCATCATCACCATCACCATCATCATCACC ACCACCATCACCATCATCACCCACCATTACCATCATCACCGCCATCATCA CCATCACCATCATCACCATCATTACCACCATCACCATCAGCATCGCGATC ATCATCACCATT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0149 a0002c0002t0003g0149	1	436	0.0023	711	c.11 others(730): Show c.118+1437_*118+1438insTGACCATCGTCACCACCACCATCATC ACCACCATAATCACCACCACCATCATCACCGTCACCATCATCACCACTAC CATCACCACCACCACCACCATCACCACCACCATCATCACCATCATCATAT CACCATCATCATCATCACAACCACCATCATCACCACCACCACCATCACCA CAACCATCATCATCATCATCACCACCACCACCATCATCACCATCATCATC ACCATCACCATCATCATAACCATCACTATCACCACCACCACCACCATCAC CACCACCATCACCATCATCACTGCCATCATCACCATCACCATCATCATCA CCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCATCACCATCACCACCACCACCATCACCATCATCACCGCCATCATCAC CATCACCATCACCACCACCATCGCCATCATCACCGCCATCATCACCATCA CCATCACCACCAGCATCACCATCATCATCACCACCACCATCACCACCACC ATCACCATCATCACCGCCATCATCACCACAACCACCATCATCACCATCAC CATCATCATCACCACCACCATCACCATCATCACCCACCATTACCATCATC ACCGCCATCATCACCATCACCATCATCACCATCATTACCACCATCACCAT CAGCATCGCGATCATCATCACCATTATCACCACCA	SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRXN1_chr20_641615_658200	642261	G G	GGGGGGGG others(704): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGCGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGCG GGGGGGCCCAGCGGGGGTGGAGTTGCCGGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCGGGGGGGGGGCCCAGCGGG GGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0048 a0001c0002t0005g0048	1	422	0.0024	711	c.64 others(722): Show c.6452_*6453insGGCAACTCCACCCCCGCTGGGCCCCCCCCCCGGC AACTCCACCCCCGCTGGGCCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC CGGCAACTCCACCCCCGCTGGGCCCCCCCGCAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCGCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4353		chr20	TogoVar
TAC1_chr7_97727086_97745472	97745310	A A	AAAATAAA others(704): Show AAAATAAAGGGATATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTC CTTTGGGTATATACCCAGTAATGGGATGGCTGGGCCAAATGGTATTTCTA GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCC TCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGGAGGGGGG AGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGT GCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAAT GTGCACATGTACTCTAAAACTTAGAGTATAATAAAAAAAAAAAGAAAGGA AAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	428	0.0023	711	c.53 others(722): Show c.5390_*5391insAAATAAAGGGATATTGTTCAATTCCCACCTATGA GTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGC CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACTCTAAAACTTAGAGTATAATAAA AAAAAAAAGAAAGGAAAAAAAAAAAAT	TAC1	ENSG00000006128.12	transcript	ENST00000319273.10	protein_coding		4839		chr7	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(704): Show CAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTG GGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGAC AGCAGAGCTCACAGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGT GAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGAC AGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGG GTGGGGCAGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGG GGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCA CAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGT GAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAG CTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGTGGGGCGG GAAGGGGACAGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0155 a0002c0001t0015g0155	1	352	0.0028	711	c.299 others(728): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCACGCTCCACCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCT CTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGT CCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTG TCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCACCTCACCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ATCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCACCTCACCCCGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMPRSS2_chr21_41459305_41513158	41511034	T T	TAAAAATT others(704): Show TAAAAATTAGCCAAGTGTGACTATTCACAATAGCAAAGACTTGGAACCAA CCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATA CACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTG TAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAA GAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAAC AATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGT GGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATG CTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACA TATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTAT AATAAAAAAAAAAAAAAAAAAAAAAAAATGCCAGTTACATTCTAAATCCC TGTAGCAGCATTTCAGGGAAACAGTTTGTCAATATTACTTTCCTTTGTCA AATCCGTGAAATAGCAGTTGATTTCTTAAAATAAATCTCAAGCTATAAAA TGTTAAAAAAAAAAAAAAAATAAATAAATAAATAAATAAATAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	382	0.0026	711	c.-30 others(722): Show c.-3011_-3010insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTATTTATTTA TTTATTTATTTTTTTTTTTTTTTTAACATTTTATAGCTTGAGATTTATTT TAAGAAATCAACTGCTATTTCACGGATTTGACAAAGGAAAGTAATATTGA CAAACTGTTTCCCTGAAATGCTGCTACAGGGATTTAGAATGTAACTGGCA TTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACA TGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGT GCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGC TATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATT CCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTG AGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATG ATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATT TTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAA TCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATT GTGAATAGTCACACTTGGCTAATTTTT	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding		2877		chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(704): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCC TCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCC CTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCC CCCCTCCCCTATCCCCTCTCCCCTCTCCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0031 a0009c0031	a0009c0031t0003 a0009c0031t0003	a0009c0031t0003g0110 a0009c0031t0003g0110	1	114	0.0088	711	c.-25 others(730): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCT CCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCC TCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCC CCCTCCCCTATCCCCTCTCCCCTCTCCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRAF6_chr11_36478769_36515272	36507363	C C	CATACATA others(704): Show CATACATAAATGTATATACGTATATATACATGTATTATACATACATAAAT GTATATACGTATATATACATGTATTATACATACATAAATGTATATACGTA TATATGCATGTATTATACATACATAAATGTATATACGTATATATACATGT ATTATACATACATAAATGTATATACGTATATATACATGTATTATACATAC ATAAATGTATATACGTATATATACATGTATTATACATACGTAAATGTATA TACGTATATATACATGTATTATACATACGTAAATGTATATACGTATATAT ACATGTATTATACATACGTAAATGTATATACGTATATATACATGTATTAT ACATACGTAAATGTATATACGTATATATACATGTATTATACATACGTAAA TGTATATATACATTATACATACGTAAATGTATATATGTATATATACATTA TACATACGTAAATGTATATATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATATATGTATATATAC ATTATACATACGTAAATGTATATATGTATATATACATTATACATACGTAA ATGTATATATGTATATATACATTATACATACGTAAATGTATATATGTATA TATACATTATACATACGTAAATGTATATATGTATATATACATTATACATA CATAAATGTATT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03139.hp2 HG03195.hp2 HG01496.hp1 HG03139.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	3	388	0.0077	711	c.-23 others(728): Show c.-23+2684_-23+2685insAATACATTTATGTATGTATAATGTATAT ATACATATATACATTTACGTATGTATAATGTATATATACATATATACATT TACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAATG TATATATACATATATACATTTACGTATGTATAATGTATATATACATATAT ACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTAT AATGTATATATACATATATACATTTACGTATGTATAATGTATATATACAT ATATACATTTACGTATGTATAATGTATATATACATTTACGTATGTATAAT ACATGTATATATACGTATATACATTTACGTATGTATAATACATGTATATA TACGTATATACATTTACGTATGTATAATACATGTATATATACGTATATAC ATTTACGTATGTATAATACATGTATATATACGTATATACATTTACGTATG TATAATACATGTATATATACGTATATACATTTATGTATGTATAATACATG TATATATACGTATATACATTTATGTATGTATAATACATGTATATATACGT ATATACATTTATGTATGTATAATACATGCATATATACGTATATACATTTA TGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAA TACATGTATATATACGTATATACATTTATGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507363	C C	CATACATA others(704): Show CATACATAAATGTATATACGTATATATACATGTATTATACATACATAAAT GTATATACGTATATATACATGTATTATACATACATAAATGTATATACGTA TATATGCATGTATTATACATACATAAATGTATATACGTATATATGCATGT ATTATACATACATAAATGTATATACGTATATATACATGTATTATACATAC ATAAATGTATATACGTATATATACATGTATTATACATACGTAAATGTATA TACGTATATATACATGTATTATACATACGTAAATGTATATACGTATATAT ACATGTATTATACATACGTAAATGTATATACGTATATATACATGTATTAT ACATACGTAAATGTATATACGTATATATACATGTATTATACATACGTAAA TGTATATATACATTATACATACGTAAATGTATATATGTATATATACATTA TACATACGTAAATGTATATATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATATATGTATATATAC ATTATACATACGTAAATGTATATATGTATATATACATTATACATACGTAA ATGTATATATGTATATATACATTATACATACGTAAATGTATATATGTATA TATACATTATACATACGTAAATGTATATATGTATATATACATTATACATA CATAAATGTATT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0273 a0001c0001t0007g0273	1	388	0.0026	711	c.-23 others(728): Show c.-23+2684_-23+2685insAATACATTTATGTATGTATAATGTATAT ATACATATATACATTTACGTATGTATAATGTATATATACATATATACATT TACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAATG TATATATACATATATACATTTACGTATGTATAATGTATATATACATATAT ACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTAT AATGTATATATACATATATACATTTACGTATGTATAATGTATATATACAT ATATACATTTACGTATGTATAATGTATATATACATTTACGTATGTATAAT ACATGTATATATACGTATATACATTTACGTATGTATAATACATGTATATA TACGTATATACATTTACGTATGTATAATACATGTATATATACGTATATAC ATTTACGTATGTATAATACATGTATATATACGTATATACATTTACGTATG TATAATACATGTATATATACGTATATACATTTATGTATGTATAATACATG TATATATACGTATATACATTTATGTATGTATAATACATGCATATATACGT ATATACATTTATGTATGTATAATACATGCATATATACGTATATACATTTA TGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAA TACATGTATATATACGTATATACATTTATGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(704): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATAACATGATGATATGATACTATATCATC ATATAACATGATGATATGATACTATATCATCATATAACATGATGATATGA TACTATATCATCATATAACATGATGATATGATACTATATCATCATATAAC ATGATGATATGATACTATATCATCATATAACATGATGATATGATACTATA TCATCATATAAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0156 a0001c0001t0090g0156	1	174	0.0058	711	c.41- others(728): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATAACATGATGATATGATACTATATCATCATATAAC ATGATGATATGATACTATATCATCATATAACATGATGATATGATACTATA TCATCATATAACATGATGATATGATACTATATCATCATATAACATGATGA TATGATACTATATCATCATATAACATGATGATATGATACTATATCATCAT ATAACATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870175	C C	CACACACA others(704): Show CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACACCC CACACACACCACACCCTACACACACCACACCCCACACACACCACACCCCA TACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACACCCCACACACACCACACCCTA CACACACCACACCCCACACACACCACACCCCATACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCTACA CACACCACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCACACACACCACACAAACCA CACACCCCACACACACCACACACACCACACACCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACACCCCACACACACCACACAC ACACATCACATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	338	0.0030	711	c.35 others(730): Show c.35+21442_*35+21443insACACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACCCTACACACACCA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCTACACACACCACACCCCACACACACCACA CCCCATACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCTACACACACCACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACAAACCACACACCCCACACACACCACACACACCA CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACACCCCACACACACCACACACACACATCACATA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(704): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAT ATTATTATATGTTATTATATATAATAATATATATTATTATATGTTATTAT ATATAATAATATAATATATATTATTATATGTTATTATATATAATAACATA TTATATATTATGTTATTATATATAATAACATAATATATATTATATGTTAT TATATATAATAACATAATATATATTATTATATGTTATTATATATAATAAC ATAATATATATTATTATATGTTATTATATATAATAACATAATATATATTA TTATATGTTATTATATATAATAACATAATATATATTATTATATGTTATTA TATATAATAATATAATATATATTATTATATGTTATTATATATAATAATAT AATATATATTATTATATGTTATTATATATAATAATATATATTATATTATT ATATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATA TATAATATATATTATATTATATATAATAATATAATATATATTATTATATA TAATAATATAATATATATTATTATATATTATATATTATTATATATAATAT ATATATAATTATATTATTATATATTATTATATATAATATATATAATTATA TATATATTATATATATTATATATAATAATAATATATATAATTATATATAT TATATATAATAA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0224 a0002c0003t0002g0224	1	238	0.0042	711	c.392 others(728): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATATA TTATATTATTATATATAATATAATATATATTATATATAATAACATATAAT AATATATATTATATTATTATATATAATAACATATAATAATATAATATATA TTATTATATATAATAACATATAATAATATATATTATATTATTATATATAA TAACATATAATAATATATATTATATTATTATATATAATAACATATAATAA TATATATTATGTTATTATATATAATAACATATAATAATATATATTATGTT ATTATATATAATAACATATAATAATATATATTATGTTATTATATATAATA ACATATAATAATATATATTATGTTATTATATATAATAACATATAATATAT ATTATGTTATTATATATAATAACATAATATATAATATGTTATTATATATA ATAACATATAATAATATATATTATATTATTATATATAATAACATATAATA ATATATATTATTATATATAATAACATATAATAATATATATTATTATATAT AATAACATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UNC5A_chr5_176805559_176885898	176859160	A A	AATGATGT others(704): Show AATGATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGATGTCCTTGCTAG AGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGAATG ATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCAT AGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGCCCTTGC TAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTACA ATGTCCTTGCTAGAGGGCATGGCTGCTAGAATGCCCTTGCTAGAGGGCAT GGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGC TAGAGGGCATAGCTGCTAGAATGATGTCCTTGCTAGAGGGCATAGCTGCT AGAATGATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGA GGGCATAGCTGCTAGAATGATGTCCTTGCTAGAGGGCATAGCTGCTAGAA TGTCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATA GCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCT AGAGGGCATAGCTGCTACAATGTCCTTGCTAGAGGGCATGGCTGCTAGAA TGCCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATA GCTGCTAGAATG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	268	0.0037	711	c.71- others(726): Show c.71-3461_71-3460insATGTCCTTGCTAGAGGGCATAGCTGCTAGA ATGATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGG CATAGCTGCTAGAATGATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGT CCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCT GCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGTCCTTGCTAGA GGGCATAGCTGCTACAATGTCCTTGCTAGAGGGCATGGCTGCTAGAATGC CCTTGCTAGAGGGCATGGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCT GCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGATGTCCTTGCT AGAGGGCATAGCTGCTAGAATGATGTCCTTGCTAGAGGGCATAGCTGCTA GAATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGATGTCCTTGCTAGAG GGCATAGCTGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGTC CTTGCTAGAGGGCATAGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTG CTAGAATGTCCTTGCTAGAGGGCATAGCTGCTACAATGTCCTTGCTAGAG GGCATGGCTGCTAGAATGCCCTTGCTAGAGGGCATAGCTGCTAGAATGTC CTTGCTAGAGGGCATAGCTGCTAGAATGATG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(704): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCTCTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCC CTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT TTCCCCCTTCCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCTCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCC CCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	246	0.0041	711	c.-10 others(728): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCTCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTT CCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTC CCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTTTCCCCCTTCCCCCCCTTTTCCCTTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCC TTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(704): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGG GAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGG GAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGC AGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGA AGGGGAGGGAGGGGTGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGG GGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAG GGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGG GAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGA GGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAA GGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAA GGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG03579.hp1 HG02818.hp2 HG02896.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0004 a0002c0003t0001 a0002c0003t0004	a0002c0003t0001g0259 a0002c0003t0004g0017 a0002c0003t0004g0021 a0002c0003t0001g0259 a0002c0003t0004g0017 a0002c0003t0004g0021	3	290	0.0103	711	c.205 others(730): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCC CTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCT CCCCTCACTTCCCTCCCTCCCACCCCTCCCTCCCCTTCCCTCCCCTCCCT CCCCTTCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCTC CCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCC CTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCC TTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(704): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC ATATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATA TATACGTATATATATACGTATATATGTGTATATATACGTATATATATACA CGTATATATACACATATATACATGTATATATATACGTATATATACACATA TATACATGTATATATATACGTATATATACATATATACGTATATATATACG TATATATACATATATACATGTATATATATATATACGTATATATACATATA TACATGTATATATATATACGTATATATACATATATACATGTATATATATA TACGTATATACACATATATATACATGTATATATATGTGTATATATACATG TATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	383	0.0026	711	c.-42 others(722): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACATATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTACGT ATATATACATGTATATATACGTATATATATACGTATATATGTGTATATAT ACGTATATATATACACGTATATATACACATATATACATGTATATATATAC GTATATATACACATATATACATGTATATATATACGTATATATACATATAT ACGTATATATATACGTATATATACATATATACATGTATATATATATATAC GTATATATACATATATACATGTATATATATATACGTATATATACATATAT ACATGTATATATATATACGTATATACACATATATATACATGTATATATAT GTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(704): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACACGTATATATACG TATATATACACGTATATATACACGTATATATACGTATATATACACATATA TACATGTATATATACGTGTATATATACACATATATACGTGTATATATACG TATATATACACATATATACGTGTATATATATACGTATATATACACATATA TACGTATATATATACGTATATATACATGTATATATACGTACGTATATATA CATGTATATATACGTACGTATATACGTATATATGTGTATATATACGTATA TATATACACGTATATATACACATATATACATGTATATATATACGTATATA TACACATATATACATGTATATATATACGTATATATACATATATACGTATA TATATACGTATATATACATATATACATGTATATATATATATACGTATATA TACATGTATATATATATACGTATATATACATATATACATGTATATATATA TACGTATATACACATATATATACATGTATATATATGTGTATATATACATG TATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	383	0.0026	711	c.-42 others(722): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACACGTATATATACGTATATATACACGTATATATACACGTATATATACGT ATATATACACATATATACATGTATATATACGTGTATATATACACATATAT ACGTGTATATATACGTATATATACACATATATACGTGTATATATATACGT ATATATACACATATATACGTATATATATACGTATATATACATGTATATAT ACGTACGTATATATACATGTATATATACGTACGTATATACGTATATATGT GTATATATACGTATATATATACACGTATATATACACATATATACATGTAT ATATATACGTATATATACACATATATACATGTATATATATACGTATATAT ACATATATACGTATATATATACGTATATATACATATATACATGTATATAT ATATATACGTATATATACATGTATATATATATACGTATATATACATATAT ACATGTATATATATATACGTATATACACATATATATACATGTATATATAT GTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(704): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATA TATACGTATATATATACGTATATATGTGTATATATACGTATATATATACA CGTATATATACACATATATACATGTATATATATACGTATATATACACATA TATACATGTATATATATACGTATATATACATATATACGTATATATATACG TATATATACATATATACATGTATATATATATATACGTATATATACATATA TACATGTATATATATATACGTATATATACATATATACATGTATATATATA TACGTATATACACATATATATACATGTATATATATGTGTATATATACATG TATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02132.hp2 HG03927.hp1 others(12): Show HG00621.hp1 HG02132.hp2 HG03927.hp1 NA18946.hp2 NA18957.hp1 NA18969.hp2 NA18974.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19011.hp2 NA19065.hp1 NA19082.hp1 NA19083.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0045 a0001c0001t0002g0058 others(10): Show a0001c0001t0002g0021 a0001c0001t0002g0045 a0001c0001t0002g0058 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0214 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0250 a0001c0001t0002g0251	15	383	0.0392	711	c.-42 others(722): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTACGT ATATATACATGTATATATACGTATATATATACGTATATATGTGTATATAT ACGTATATATATACACGTATATATACACATATATACATGTATATATATAC GTATATATACACATATATACATGTATATATATACGTATATATACATATAT ACGTATATATATACGTATATATACATATATACATGTATATATATATATAC GTATATATACATATATACATGTATATATATATACGTATATATACATATAT ACATGTATATATATATACGTATATACACATATATATACATGTATATATAT GTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(704): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATATGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATA TATACGTATATATATACGTATATATGTGTATATATACGTATATATATACA CGTATATATACACATATATACATGTATATATATACGTATATATACACATA TATACATGTATATATATACGTATATATACATATATACGTATATATATACG TATATATACATATATACATGTATATATATATATACGTATATATACATATA TACATGTATATATATATACGTATATATACATATATACATGTATATATATA TACGTATATACACATATATATACATGTATATATATGTGTATATATACATG TATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01978.hp1 HG02300.hp1 HG00642.hp1 HG01978.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0211 a0001c0001t0002g0230 a0001c0001t0002g0234	3	383	0.0078	711	c.-42 others(722): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATATGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTACGT ATATATACATGTATATATACGTATATATATACGTATATATGTGTATATAT ACGTATATATATACACGTATATATACACATATATACATGTATATATATAC GTATATATACACATATATACATGTATATATATACGTATATATACATATAT ACGTATATATATACGTATATATACATATATACATGTATATATATATATAC GTATATATACATATATACATGTATATATATATACGTATATATACATATAT ACATGTATATATATATACGTATATACACATATATATACATGTATATATAT GTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAGATAA others(705): Show ATAGATAAATATATAAATATTTATATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTT ATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATAT TTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAAT GTATAAATATTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0033 a0001c0016t0033	a0001c0016t0033g0294 a0001c0016t0033g0294	1	306	0.0033	712	c.130 others(731): Show c.1308+1271_1308+1272insAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATATAAATATTTATATATTTATCTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(705): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATA TAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTA TATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATA AATATATCAATATATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0212 a0001c0002t0005g0212	1	306	0.0033	712	c.130 others(731): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATATATTGATATATTTATCTATAAATAT AAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTAT ATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(705): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCACACGTCACCTCA GTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCA GCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCAC CCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCAT CACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTC AGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02300.hp1 HG02273.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0004 a0001c0012t0055 a0001c0001t0004 a0001c0012t0055	a0001c0001t0004g0313 a0001c0012t0055g0235 a0001c0001t0004g0313 a0001c0012t0055g0235	2	337	0.0059	712	c.61+ others(727): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGG GGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGG GGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGTG GACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATG TGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGG GTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGG GTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(705): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCAT CACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTC AGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20805.hp2 HG02886.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0067 a0001c0001t0003 a0001c0001t0067	a0001c0001t0003g0092 a0001c0001t0067g0091 a0001c0001t0003g0092 a0001c0001t0067g0091	2	337	0.0059	712	c.61+ others(727): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGG TGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTG GACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATG TGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGG GTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGG GTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(705): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGTCCACCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCAT CACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTC AGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0305 a0001c0002t0005g0305	1	337	0.0030	712	c.61+ others(727): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGA TGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGT GTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGG TGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGG TGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTG GACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATG TGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGG GTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGG GTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173269	A A	ACATCACC others(705): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACC CCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACA TCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTC ACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATC ACCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCA GTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCC CACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCAT CACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTC AGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0270 a0001c0001t0005g0270	1	337	0.0030	712	c.61+ others(727): Show c.61+6397_61+6398insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGC GGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTG GGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGA CTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACT GAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATG TGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGG GTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGT GGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGG ACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGAC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS14_chr10_70667506_70767441	70686955	C C	CGGGGCGG others(705): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCACTGGCC GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGC CGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCC GGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCA CCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0010 a0001c0055t0010	a0001c0055t0010g0236 a0001c0055t0010g0236	1	354	0.0028	712	c.522 others(731): Show c.522+12172_522+12173insGGCTGGCCGGGCGGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCCACTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG AGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAG GGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGC TGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100011336	G G	GGGAAGGA others(705): Show GGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGG GAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGA TGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGGAGGGAGGGAAGGAAAG GAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGA GGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATG GGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATG GGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0130 a0001c0010t0007g0130	1	228	0.0044	712	c.259 others(733): Show c.2592-13748_2592-13747insTCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCC TTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTC CCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCT CCCTCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCC TCCCTCCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTC CTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCAT CCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTT CCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCC TCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(705): Show CATATACGTATACGTGTACACACATATACGTATACGTGTACACACATATA CGTATACGTGTACACACATATACGTATACGTGTACACACATATACGTATA CGTGTACACACATATACGTATACGTGTACACACATATACGTATACGTGTA CACACATATACGTATACGTGTACACACATATACGTATACGTGTACACACA TATACGTATACGTGTACACACATATACACGTATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACGTATATA CGTATACGTGTACACACGTATATACGTATACGTGTACACACGTATATACG TATACGTGTACACACGTATATACGTATACGTGTACACACGTATATACGTA TACGTGTACACACGTATATACGTATACGTGTACACACGTATATACGTATA CGTGTACACACGTATATACGTATACGTGTACACACGTATATACGTATACG TGTACACACACATACACGTATATACGTATACGTGTACACACACATACACG TATATACGTATACGTGTACACACATATACACGTATACGTGTACACACATA TACACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACA CACATATACACGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0087 a0001c0001t0062g0087	1	169	0.0059	712	c.48- others(729): Show c.48-70722_48-70721insGTATACGTGTACACACATATACGTATAC GTGTACACACATATACGTATACGTGTACACACATATACGTATACGTGTAC ACACATATACGTATACGTGTACACACATATACGTATACGTGTACACACAT ATACGTATACGTGTACACACATATACGTATACGTGTACACACATATACGT ATACGTGTACACACATATACACGTATACGTATACGTGTACACACATATAC ACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACGT GTACACACACACGTATATACGTATACGTGTACACACGTATATACGTATAC GTGTACACACGTATATACGTATACGTGTACACACGTATATACGTATACGT GTACACACGTATATACGTATACGTGTACACACGTATATACGTATACGTGT ACACACGTATATACGTATACGTGTACACACGTATATACGTATACGTGTAC ACACGTATATACGTATACGTGTACACACGTATATACGTATACGTGTACAC ACACATACACGTATATACGTATACGTGTACACACACATACACGTATATAC GTATACGTGTACACACATATACACGTATACGTGTACACACATATACACGT ATACGTGTACACACATATACACGTATATACGTATACGTGTACACACATAT ACACGTATATACGTATACGTGTACACACATATAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581417	C C	CACGTATA others(705): Show CACGTATATACGTATACGTGTACACACACATACACACATATACGTATACG TGTACACACACATACACACGTATATACGTATACGTGTACACACACACATA TACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACGTATATACGTATACGTGTACACACACATACACG TATATACGTATACGTGTACACACACATACACGTATATACGTATACGTGTA CACACACATACACGTATATACGTATACGTGTACACACATACACGTATATA CCTATACGTGTACACACATATACCTATACGTGTACACACATATACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATATACGTATACG TGTACACACATATACGTATACGTGTACACACATATATACGTATACGTATA CGTGTACACACAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0124 a0001c0001t0010g0124	1	169	0.0059	712	c.48- others(729): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAC ATACACACATATACGTATACGTGTACACACACATACACACGTATATACGT ATACGTGTACACACACACATATACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACATACACGTATATACGTATACGTGTACACACACATAC ACGTATATACGTATACGTGTACACACACATACACGTATATACGTATACGT GTACACACATACACGTATATACCTATACGTGTACACACATATACCTATAC GTGTACACACATATACGTATACGTGTACACACATATACACGTATACGTGT ACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACAC ACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACAC ATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACAT ATACACGTATATACGTATACGTGTACACACATATACGTATACGTGTACAC ACATATATACGTATACGTATACGTGTACACACAT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20			chrX	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(705): Show GAAGGGAAGGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGG AAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGA AGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAA GGGGAAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGA AGGGGAAAAGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAA AAGGAAGGGGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGA AGAAAGGAAGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGG GAAAGGGAAGGGGAAGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAG GGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAG GGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAG TGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGA GGGAGGGAGGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAG AGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAG GGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0097 a0001c0003t0004g0097	1	242	0.0041	712	c.927 others(729): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTC TCTTCCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTG TCCGTCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTT TTCCCTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTT CCCTTCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTC CCTTCCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTC CCCTTCCCTTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTT TCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCC CTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCC CTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCC TTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCC TTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCC TTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(705): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACAC TACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC ACCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCC ATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCTCACT ACCCACCCCATCACCCGCACACTACCCAGGCCCATCACCCCGCTACCCAC CCCATCACCCCCACGCCACCCACCCCATCACCCCCACACCGCCCACCCCA TCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCA CCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCC CCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0296 a0002c0003t0002g0296	1	334	0.0030	712	c.147 others(729): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCCA CCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATC ACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCC CCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCTCACTA CCCACCCCATCACCCGCACACTACCCAGGCCCATCACCCCGCTACCCACC CCATCACCCCCACGCCACCCACCCCATCACCCCCACACCGCCCACCCCAT CACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCAC CCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCC CACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACG CCGCCCACCCCATCACCCCCACACTACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(705): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACAC TACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC ACCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCC ATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAC CCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCTCACT ACCCACCCCATCACCCGCACACTACCCAGGCCCATCACCCCGCTACCCAC CCCATCACCCCCACGCCACCCACCCCATCACCCCCACACCGCCCACCCCA TCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCA CCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCC CCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0300 a0002c0003t0002g0300	1	334	0.0030	712	c.147 others(729): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCCA CCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATC ACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCTCACTA CCCACCCCATCACCCGCACACTACCCAGGCCCATCACCCCGCTACCCACC CCATCACCCCCACGCCACCCACCCCATCACCCCCACACCGCCCACCCCAT CACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCAC CCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCACCCCATCACCCC CACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACG CCGCCCACCCCATCACCCCCACACTACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(705): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCACCATCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCAC CACCACCATCACCACCATCACCATCACCACCACCACCATCATCACCACCA TCACCACCAGCACCACCACTATCAACATCACCATCACCACCATCATCATC ACCACCATCACCACCACCACCACCACCATCATCACCATCACCACCAGCAC CACCACCAACATCATCATCATCACCATCACCACCACCATCACCACCACCA CCACCATCAACACCACCATCACCACCACCATCATCATCACCACCACCACC ATCACCACCATCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0019 a0006c0009t0019	a0006c0009t0019g0042 a0006c0009t0019g0042	1	376	0.0027	712	c.63+ others(725): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGATGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGA TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATG GTGATGTTGATAGTGGTGGTGCTGGTGGTGATGGTGGTGATGATGGTGGT GGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGG TGATGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGA TGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGA TGGTGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATG GTGGTGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGTGGT GCTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGA TGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGG TGGTGATGGTGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGATGG TGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATG GTGTTGATGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(705): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCCCACCTT CCTGTCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCGTCCTCA CCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACGGCCCACCTTCCTG TCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCC CACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCC TGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTG CCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCC CACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTG CCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATC CTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0188 a0003c0003t0002g0188	1	284	0.0035	712	c.411 others(729): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGA AGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGA GGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCG TGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGA AGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGA GGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCCG TGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGACGGGAAGGT GGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGG GCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGC AGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGT GGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGG ACAGGAAGGTGGGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGC AGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGT GGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(705): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCC TGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAG CCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCG CCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCC TGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGG CCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCG CCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCC TGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGG CCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACC TGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATC CTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0001 a0015c0029t0001	a0015c0029t0001g0198 a0015c0029t0001g0198	1	284	0.0035	712	c.411 others(729): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAG GTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAG GTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGT GGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGG GCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGC AGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGT GGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(705): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCC TGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAG CCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCG CCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCC TGCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGC CCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGC CTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCT GCCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGG CCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACC TGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATC CTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0001 a0015c0029t0001	a0015c0029t0001g0199 a0015c0029t0001g0199	1	284	0.0035	712	c.411 others(729): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGGCAGGAAGGTGGGCTGT GGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAA GGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAG GGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGCAGGAAGGTGGGCTGTG GCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAG GTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGT GGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGG GCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGC AGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGT GGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(705): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGG GAGGGGGAGGGGAAGGGAAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGG GGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGGAGACAG AGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	216	0.0046	712	c.923 others(731): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTTCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCC ACTCCCCTCCCCCTCCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCC CCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCT CCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCC CTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTATAAC others(705): Show ACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCACCAT CACTATAACCATCACCACCATCACCACTATAACCACTAGCACCACCACTA CTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCACT ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCACCACCACCATCACCACTATAACCACCACTACCACCACCACCATTA TAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCAC TATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCA CTATAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTGTAACCATCACCACCACCACTGCTATAACCATCACCACTAC CACTACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCA CCACCACCACCATTATCACCATCACCATCACACACCACAACTACCACCAC CACCACCATCACCACTATAACCACTAGCACCACCACTACTATAACCATCA CCACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACCATC ACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0156 a0001c0005t0002g0157 a0001c0005t0002g0156 a0001c0005t0002g0157	2	230	0.0087	712	c.724 others(731): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTG TGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGC AGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGG TTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGG TGGTTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGT GGTAGTGGTGGTTATAGTGGTGATGGTGGTGGTGGTTATAGTGGTGGTGG TGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTG GTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGTAGTGGTGGTGCT AGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGATGGTGGTGGTGG TGGTGGTTATAGCAGTGATGGTGGTGATGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(705): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA CTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCACT ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCAC TATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCA CTATAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTGTAACCATCACCACCACCACTGCTATAACCATCACCACTAC CACTACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCA CCACCACCACCATTATCACCATCACCATCACACACCACAACTACCACCAC CACCACCATCACCACTATAACCACTAGCACCACCACTACTATAACCATCA CCACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACCATC ACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01934.hp1 HG01106.hp1 HG01934.hp1	a0001 a0001	a0001c0006 a0001c0010 a0001c0006 a0001c0010	a0001c0006t0010 a0001c0010t0002 a0001c0006t0010 a0001c0010t0002	a0001c0006t0010g0158 a0001c0010t0002g0150 a0001c0006t0010g0158 a0001c0010t0002g0150	2	230	0.0087	712	c.724 others(731): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTG TGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGC AGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGG TTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGG TGGTTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGT GGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGG TGGTGGTTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTG GTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGTAGTGGTGGTGGT GGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGG TGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(705): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA CTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACCACT ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCATTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC TATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCA CTATAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTGTAACCATCACCACCACCACTGCTATAACCATCACCACTAC CACTACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCA CCACCACCACCATTATCACCATCACCATCACACACCACAACTACCACCAC CACCACCATCACCACTATAACCACTAGCACCACCACTACTATAACCATCA CCACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACCATC ACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0010 a0001c0012t0010	a0001c0012t0010g0026 a0001c0012t0010g0026	1	230	0.0044	712	c.724 others(731): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTG TGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGC AGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGG TTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGG TGGTTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTG ATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAATGGTGGTGGT GGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGG TGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTG GTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGTAGTGGTGGTGGT GGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGG TGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(705): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCC TTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCT CTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTC CCTCTCCCCCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTC TCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCC CTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTC TCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCT CTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTC TCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCCCCCTCCCTCT CTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTC TCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCTCCCTCTCCCTC TCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTCCCTCTCCCCCCT CCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTCTGTCCCCC TCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0081 a0001c0003t0002g0081	1	230	0.0044	712	c.126 others(729): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAG GGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAG AGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAG GAGAGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGA GAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGG GAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAG AGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGAGGGAGAGGGAGGG AGGGGGAGGGAGAGGGAGGGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGG AGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGG AGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGGAGA GGGGGGAGAGAGGGGAGGGAGGGAGGGGGGGAAAGGGGAGGGAGAGGGGG GAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GPIHBP1_chr8_143208218_143222170	143218163	A A	ACCCCCAC others(705): Show ACCCCCACCACCCCCACACCACCCCCACACCACCCCCACACCACCCCCAC ACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CCCCACACCACCCCCAACACCACCCCCAACACCACCCCCACACCACCCCC AACACCACCCCCACACCACCCCCAACACCACCCCCACACCACCCCCACCA CCCCCAACACCATCCCAACACCACCCCCAACACCACCCCCAACACCACCC CCACACCACCCCCACCACCACCCCCAACACCACCCCCACCACCCCCACAC CACCCCCACACCACCCCCACCACCCCCAACACCATCCCAACACCACCCCC AACACCACCCCAACACCACCCCCACACCACCCCCACACCACCCCCAACAC CACCCCAACACCACCCCCACACCACCCCCAACACCACCCCCACACCACCC CCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCA ACACCACCCCCACACCATCCCCAACACCACCCAACACCACCCCCACACCA TCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCACACCATCCC CAACACCACCCAACACCACCCCCACACCACCCCCACACCACCCCCAACAC CACCCCAACACCACCCCCCACACCACCCCCAACACCAGCCCCAACACCAG CCCCAACACCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0002 a0001c0003t0013g0002	1	106	0.0094	712	c.26 others(723): Show c.2645_*2646insCCCCCACCACCCCCACACCACCCCCACACCACCC CCACACCACCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCCCCACACCACCCCCAACACCACCCCCAACACCAC CCCCACACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCC ACACCACCCCCACCACCCCCAACACCATCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCACACCACCCCCACCACCACCCCCAACACCACCC CCACCACCCCCACACCACCCCCACACCACCCCCACCACCCCCAACACCAT CCCAACACCACCCCCAACACCACCCCAACACCACCCCCACACCACCCCCA CACCACCCCCAACACCACCCCAACACCACCCCCACACCACCCCCAACACC ACCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACC CCAACACCACCCCCAACACCACCCCCACACCATCCCCAACACCACCCAAC ACCACCCCCACACCATCCCCAACACCACCCCAACACCACCCCCAACACCA CCCCCACACCATCCCCAACACCACCCAACACCACCCCCACACCACCCCCA CACCACCCCCAACACCACCCCAACACCACCCCCCACACCACCCCCAACAC CAGCCCCAACACCAGCCCCAACACCACC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		994		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATAAATA others(705): Show TATAAATATATATATTTATATTTATTTATATATATAAATATATATATTTA TATTTATTTATATATATAAATATATATATTTATATTTATATATATATATA AATATATATATTTATATTTATATATATATATAAATATATATATTTATATA TATATATAAATATATATATTTATATTTATTTATATATATAAATATATATA TTTATATTTATTTATATATATATAAATATATATATTTATATTTATATTTA TATATTTATATTTATATATATAAATATATATATTTATATTTATTTATATA TATAAATATATATATTAATATATATTTATATATATAAATATATATATTTA TATATAAATATATATTTATGTATATTTATATATAAATATATATATTTATA TATATAAATATATATATTTATATATAAATATATATATTTATATATAAATA TATATATAAATATATATATTTATATATAAATATATATATTTATATATATA TTTATATATAAATATATATATTTATATATAAATATATATATTTATATATA TAAATATATATATTTATATATATAAATATATATATATTTATATTTACAAA TATATATATTTATATATATATTTATATTTATATATATTTATATTTATATA TATATATATAAATATATATTTATGTATATTTATATATAAATATAAATATA TATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0027 a0001c0014t0027	a0001c0014t0027g0176 a0001c0014t0027g0176	1	208	0.0048	712	c.-97 others(729): Show c.-97-2616_-97-2615insAATATATATATTTATATTTATTTATATA TATAAATATATATATTTATATTTATTTATATATATAAATATATATATTTA TATTTATATATATATATAAATATATATATTTATATTTATATATATATATA AATATATATATTTATATATATATATAAATATATATATTTATATTTATTTA TATATATAAATATATATATTTATATTTATTTATATATATATAAATATATA TATTTATATTTATATTTATATATTTATATTTATATATATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTAATATATATTTATATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAAATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(705): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATAAATATATATATTTATATATAAATATATATATTTATATATA TATTTATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATATAAATATATATATATTTATATTTACA AATATATATATTTATATATATATTTATATTTATATATATTTATATTTATA TATATATATAAATATATATTTATGTATATTTATATATAAATATAAATATA TATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	208	0.0048	712	c.-97 others(729): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATAAATATATATATTTATATATAAATATATATATTT ATATATATATTTATATATAAATATATATATTTATATATAAATATATATAT TTATATATATAAATATATATATTTATATATATAAATATATATATATTTAT ATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTAT ATTTATATATATATATAAATATATATTTATGTATATTTATATATAAATAT AAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(705): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATTTATGTATATTTATATATAAATATATATATTTATA TATATAAATATATATATTTATATATAAATATATATATTTATATATAAATA TATATATAAATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAAATATAAATATATATTTATA TATAAATATAAATATATATTTATGTATATTTATATATAAATATAAATATA TATTTATATATAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0081 a0001c0001t0010g0081	1	208	0.0048	712	c.-97 others(729): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATTTATGTATATTTATATATAAATATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATATTTATAT ATAAATATATATATAAATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT ATTTATATATAAATATAAATATATATTTATGTATATTTATATATAAATAT AAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HRAS_chr11_527242_540576	531054	G G	GAGAAGGG others(705): Show GAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCC CCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTG GCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGG AGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGACAGA AGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTG GAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGT CGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGA GAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCC TGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGC GTCCCCTGGACAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAG TGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAG GGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGA CAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCC CCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTG GCGTCCCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	397	0.0025	712	c.14 others(723): Show c.1473_*1474insGTCCAGGGGACGCCACACTCGCCCTTCTCTCCAG GGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT CTCCAGGGGACGCCACACTCGCCCTTCTGTCCAGGGGACGCCACACTGGC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCAC ACTCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGA CGCCACACTCGCCCTTCTGTCCAGGGGACGCCACACTGGCCCTTCTCTCC AGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTT CTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTG GCCCTTCTCTCCAGGGGACGCCACACTCGACGCCACACTCCCCCTTCTGT CCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCACACTCCCCC TTCTCTCCAGGGGACGCCACACTGGCCCTTCTGTCCAGGGGACGCCACAC TCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACG CCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCTCTCCAG GGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT GTCCAGGGGACGCCACACTCGCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1187		chr11	TogoVar
IFITM1_chr11_309040_320272	319615	A A	ATGAAAGG others(705): Show ATGAAAGGAGGGTCCAGCTGGGCTTCCTGGGTCGAGTAGGGGTTCAGAAA GCTGTGAAACACTCATTTCCTGCATCAGGACTTACTTCGGTCCTGGATGA AGAGTACTGAAGATACATGCCTAAAATATTCCTAACACCAGGATTTGTGC ATGTGTTTCCTTCCCCAAGAAAGCTATAAACAGCAAAAATTCTGCTGTAA GCTTCCCTGTGTCCTCTCTCCCTCTCTTCCTTCCCCCTCCCCTAAAACTA AAAGGAATGTTAAAAGACCCTTTTTCTGTGACCAGCGGACCTTATCTATG CTCCCAATTCCAATTCCTTGTGAACATACTTTGTAAAGTCCTGTAAAATC CTGTCTCTTTTGCCATGCTGCTGCAAGGTCATAAAGTAGATAAAATTAGA TAAAACCTAAGTTGCAATTCTGTTTTTCCTCAAAATCTAAGACATGTCAC AAAATAATTTACTGCCTTTGTTTCTCTCTCTGGTAACATCTTCCCACCAC ATGTATTTCCCGCCTTAAAGAGATTAAAAGGCAATCACCCAAAACCAACA GTGGCTACCCTCTCCGGACCCCTTCCATGCTGTGTAAGCTTTGTACTGTC ACTCTGCTCAATAAAACCTACAGTTTTTTTCTTCTCTTGGTCTGTGTCTC CATCACTCGCCGCGGGCAGCCGCCACACCCAATTCTTTGGTGTGGCTAAG GCAAGAACGTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	34	0.0294	712	c.45 others(723): Show c.4502_*4503insTGAAAGGAGGGTCCAGCTGGGCTTCCTGGGTCGA GTAGGGGTTCAGAAAGCTGTGAAACACTCATTTCCTGCATCAGGACTTAC TTCGGTCCTGGATGAAGAGTACTGAAGATACATGCCTAAAATATTCCTAA CACCAGGATTTGTGCATGTGTTTCCTTCCCCAAGAAAGCTATAAACAGCA AAAATTCTGCTGTAAGCTTCCCTGTGTCCTCTCTCCCTCTCTTCCTTCCC CCTCCCCTAAAACTAAAAGGAATGTTAAAAGACCCTTTTTCTGTGACCAG CGGACCTTATCTATGCTCCCAATTCCAATTCCTTGTGAACATACTTTGTA AAGTCCTGTAAAATCCTGTCTCTTTTGCCATGCTGCTGCAAGGTCATAAA GTAGATAAAATTAGATAAAACCTAAGTTGCAATTCTGTTTTTCCTCAAAA TCTAAGACATGTCACAAAATAATTTACTGCCTTTGTTTCTCTCTCTGGTA ACATCTTCCCACCACATGTATTTCCCGCCTTAAAGAGATTAAAAGGCAAT CACCCAAAACCAACAGTGGCTACCCTCTCCGGACCCCTTCCATGCTGTGT AAGCTTTGTACTGTCACTCTGCTCAATAAAACCTACAGTTTTTTTCTTCT CTTGGTCTGTGTCTCCATCACTCGCCGCGGGCAGCCGCCACACCCAATTC TTTGGTGTGGCTAAGGCAAGAACGTTTG	IFITM1	ENSG00000185885.17	transcript	ENST00000408968.4	protein_coding		4344		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(705): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATGGAATGTGTATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	323	0.0031	712	c.-21 others(723): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATGGAATGTGTA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar

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Search Results (Total: 8931 hits)