Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(629): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGG GGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGTGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	636	c.64 others(647): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCACCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
TBC1D10C_chr11_67399083_67415089	67403714	G G	GGAACTGG others(629): Show GGAACTGGCTTCCTGCTCTGGGACTCAGTTTCCCCCGTGCAGCAGGGGCT GGGCAAGTCCAAGGAGAGGTGGGGGTACCCACCTGTGACATGAAGGCCTC CTCCTGCAGCTGCGCGGGGGGGATGGCTCGAAGGGCTCCCAGTGTCTCCA GGAGGCCAGGGCAGGCCCCTCGCTGCTCTGCAGTGCCCAGCGCCAGGCGC ACCAGTGTCAGCCCCACACGGAACAGTACTCTGGCACCTGCAGGCCGGGG GCTTATTCACTGGGAGGCCGGCCCTGCCCCTCCACAGTTCTGCACCCAAA CCTGCCCTCAGCCATATGCCTCCCACTCTCCTGCAGCTCTGCCCTCCCCG GTTCAGGAACAATGACAGAGGGTGGAGTTGCATTTCGGGTAACACAGGCC GCTGTACTGGCCAAGTTAGCCTCAAGAGCCACAGATGCTTTGGGGAAGAG TTACTATCTTGTGAATTTGGTTACTGTCGCCTCCCATCCCCACCCCCGCC AAAATGAAGGTCTTGATCACTTGATGCTCAGATGCCATCCATATCTGGAG CCAGCAAGCACCCAGCAGGTGCCTGTGGGCTCCGGGGAGGAGCACCTCCT ACCCTCCCTGAGCCAGTCAGGCCTCCATGTGCTATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	636	c.-48 others(645): Show c.-489_-488insGAACTGGCTTCCTGCTCTGGGACTCAGTTTCCCCCG TGCAGCAGGGGCTGGGCAAGTCCAAGGAGAGGTGGGGGTACCCACCTGTG ACATGAAGGCCTCCTCCTGCAGCTGCGCGGGGGGGATGGCTCGAAGGGCT CCCAGTGTCTCCAGGAGGCCAGGGCAGGCCCCTCGCTGCTCTGCAGTGCC CAGCGCCAGGCGCACCAGTGTCAGCCCCACACGGAACAGTACTCTGGCAC CTGCAGGCCGGGGGCTTATTCACTGGGAGGCCGGCCCTGCCCCTCCACAG TTCTGCACCCAAACCTGCCCTCAGCCATATGCCTCCCACTCTCCTGCAGC TCTGCCCTCCCCGGTTCAGGAACAATGACAGAGGGTGGAGTTGCATTTCG GGTAACACAGGCCGCTGTACTGGCCAAGTTAGCCTCAAGAGCCACAGATG CTTTGGGGAAGAGTTACTATCTTGTGAATTTGGTTACTGTCGCCTCCCAT CCCCACCCCCGCCAAAATGAAGGTCTTGATCACTTGATGCTCAGATGCCA TCCATATCTGGAGCCAGCAAGCACCCAGCAGGTGCCTGTGGGCTCCGGGG AGGAGCACCTCCTACCCTCCCTGAGCCAGTCAGGCCTCCATGTGCTATGA	TBC1D10C	ENSG00000175463.12	transcript	ENST00000542590.2	protein_coding		368		chr11	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(629): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCC CCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATCCTCC CTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCA CCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCT CCTCCGCCCCACCCACCCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCT CACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCC ACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02074.hp1 HG00642.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0003g0063 a0001c0001t0001g0072 a0001c0001t0003g0063	2	112	0.0179	636	c.142 others(657): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTC CTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCT CCCTCCGCCCCACCCATCCCTCCTCCCCTCACCCATCCCTCCATCCTCCC TCCACCCCACCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCA CCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTC CCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCCTCCGCCCC ACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCT CCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCC CACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCAC CCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCC ATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D2_chr9_98194011_98260649	98257542	T T	TTTTTTTG others(629): Show TTTTTTTGATACAGAGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGTGGC ATGCTCTCCAATTCCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACATACACGCGTCACCATACCCAGCTAATTTTTGTATTTTTAGTTGAGA CGGGGTTTCACCATGTTGGCTAGGATGGTCTGGATCTCCTGACCTTGTGA TCCACCGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACA GTGCCTGGCCCCATTCCTGATTTTTAAAACCTCTTAATAAAACAAACAGC ATACCTTATTTGTTCTAGGTTTTGTAGCTAGGCAATGATAAATATTTGAA AGAATAATTATAAATATATTACGTATACCAGAAAAACTCAAGTGGTGGCC TGTTTTAAAAAACTGTGCATATGTGTATAGATGTCTCCAGCAGCAAACAA ATGGAAAATATAATGGACAACATCCCTTACATAAATGACTTACATAATGA ATACCTTATTGCTTTATAGTAGGATATAAGACAAACCAAATATGTCCCTG AGTGGGAAGAGTTAATATTGTAAAGATGTCACATTCCTCAAATTAATCCA TACAGTTAATACATTTTCAATCAAACTCTCGATAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0036 a0003c0009t0001g0036	1	366	0.0027	636	c.-20 others(647): Show c.-2002_-2001insGCCTATCGAGAGTTTGATTGAAAATGTATTAACT GTATGGATTAATTTGAGGAATGTGACATCTTTACAATATTAACTCTTCCC ACTCAGGGACATATTTGGTTTGTCTTATATCCTACTATAAAGCAATAAGG TATTCATTATGTAAGTCATTTATGTAAGGGATGTTGTCCATTATATTTTC CATTTGTTTGCTGCTGGAGACATCTATACACATATGCACAGTTTTTTAAA ACAGGCCACCACTTGAGTTTTTCTGGTATACGTAATATATTTATAATTAT TCTTTCAAATATTTATCATTGCCTAGCTACAAAACCTAGAACAAATAAGG TATGCTGTTTGTTTTATTAAGAGGTTTTAAAAATCAGGAATGGGGCCAGG CACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGT GGATCACAAGGTCAGGAGATCCAGACCATCCTAGCCAACATGGTGAAACC CCGTCTCAACTAAAAATACAAAAATTAGCTGGGTATGGTGACGCGTGTAT GTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGGAATTGGAGAG CATGCCACTGCACTCCAGCTTGGGCGACAGAGCGAGACTCTGTATCAAAA AA	TBC1D2	ENSG00000095383.20	transcript	ENST00000465784.7	protein_coding		1894		chr9	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(629): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGT CTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	256	0.0039	636	c.924 others(653): Show c.924-2424_924-2423insGAGAGACAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGA GAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(629): Show GTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCT CTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0072 a0001c0018t0001g0072	1	256	0.0039	636	c.924 others(653): Show c.924-2424_924-2423insGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAA GAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGA GAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGA GAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TM4SF19_chr3_196318547_196343388	196334965	G G	GATGCCCT others(629): Show GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGT AGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGG TGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGG GGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGA AGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGG AGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGA GAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCC CTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGT GTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGG GGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	370	0.0027	636	c.-2+ others(651): Show c.-2+3298_-2+3299insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACC TTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCC TCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCTCTCCTACAC CCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGG CATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTC CTAACCCCCACCTTCTCAGGGCACCCTTCCCTCTCCTACACCCACCCTCC CAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCC CTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCA CCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACC CCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTA CACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCA GGGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TM4SF19_chr3_196318547_196343388	196335076	A A	ACTGGGAG others(629): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGG GTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAG GGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAG GGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAG AAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCC TGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTG TAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGG GGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGG TGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAG GGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCTCTG GGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTG GAGAGGGGAGGGGTGCTCTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATG CCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	370	0.0027	636	c.-2+ others(651): Show c.-2+3187_-2+3188insAGCACCCCTCCCCTCTCCAACCCCCACCTT CTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGAGCACCCCTC CCCTCTCCAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCC ACCCTCCCAGAGCACCCCTCCCCTCTCCAACCCCCACCTTCTCAGGGCAT CCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTA ACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCC TCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCAC CTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCC CTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTAC ACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAG GGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTC TCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCC TCCCAG	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMEM120B_chr12_121707752_121787068	121748000	C C	CTGGGGTA others(629): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCACTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCT GGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTA GAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGC GGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGG GGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGC GGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	314	0.0032	636	c.189 others(651): Show c.189-326_189-325insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TWIST2_chr2_238843085_238915534	238870635	C C	CCACACAC others(629): Show CCACACACACCACACACCCCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCCCACACACCACACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCCCACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACACCCCATACACACC ACACACCCCCCACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCATACACACCACACACCCCCCACACACCACACCCCATACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACACCCCCCACACACCACACCCCATACACACCACA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	338	0.0030	636	c.35 others(655): Show c.35+21903_*35+21904insACACACACCACACACCCCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCATACACACCACACCCCACACACACCACACACCCCCCA CACACCACACACCCCACACACACCACACCCCATACACACCACACCCCACA CACACCACACACCCCCCACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCATACACACCACACACCCCCCACACACCACACCCCACA CACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCATACACACCACACACCCCC CACACACCACACCCCATACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCACACACCACACCCCACACACACCACACACCCCACA CACACCACACCCCACACACACCACACACCCCCCACACACCACACCCCATA CACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679065	T T	TATAAATA others(629): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01169.hp2 HG01981.hp1 others(2): Show HG00280.hp1 HG01169.hp2 HG01981.hp1 HG01981.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0026 others(1): Show a0001c0001t0009 a0001c0001t0019 a0001c0001t0026 a0001c0001t0067	a0001c0001t0009g0193 a0001c0001t0019g0192 a0001c0001t0026g0056 others(2): Show a0001c0001t0009g0193 a0001c0001t0019g0192 a0001c0001t0026g0056 a0001c0001t0026g0191 a0001c0001t0067g0222	5	250	0.0200	636	c.82+ others(651): Show c.82+5617_82+5618insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(629): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGA GGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGG AGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGAAGGAGGAGAGGG AGGGAAGGGAGGGAGGAAGGGAGGGAGAGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	167	0.0060	636	c.53 others(647): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCTCTCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTC CCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCC CTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCCTTCCTTTCTCCT TTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTCCCTCTCTCTCTT CCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTCCCTCCTCTCCTC CC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(629): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	408	0.0025	636	c.53+ others(651): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(629): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	408	0.0025	636	c.53+ others(651): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(629): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATATTATATAATTAATATAATATATAATATATATTATATAA TAATAATATAATATATATAATAATTATATAATATAGTATATAATATATAT TATATAATAATAATATAATATATATAATAATTATATAATATATATTATAT AATAATAATATAATATATATAATAATTATATAATATTAGAATATATATTA TACAATAATAATATAATATATATTATACAATAATAATATAATATATATAT AATTATATAATATAATATATATAATAATAATATAATATAATATATAATAT ATATTATATAGTAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	218	0.0046	636	c.55+ others(651): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATAATTATTATATATATTATATTATTA TTATATAATATATATTATATACTATATTATATAATTATTATATATATTAT ATTATTATTATATAATATATATTATATATTATATTAATTATATAATATAT ATTATATATTATATTAATTATATAATATATCTTATATTATTATTATATAA TATATATTATATATTATATTAATTATATAATATATCTTATATTATTATTA TATAATATATGTTATATATTACATTATTATTATATAATATACATTATATT ATTATATAATGTATATTATATATTATATTATTATATATAATATATATTAT ATATTATATATTATATATAATATATATTATATATTATATATTATATTATA TAATTATTATATATTGCATTATATTATATTATATATATTATATATATTAT ATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(629): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATTATATA TTATAAATAATATATTATATATATTATATATTATAAATAATATATTATAT ATATTATATATTATAAATAATATATTATATATTATATTATATATTATAAA TAATATATTATATATTATATTATATATTATAAATAATATATTATATATTA TATTATATATTATAAATAATATATTATATATTATATTATAAATAATATAT TATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0233 a0001c0001t0026g0233	1	302	0.0033	636	c.-1- others(653): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATTATATATTATAAATAATATATTATATATATTATATATTAT AAATAATATATTATATATATTATATATTATAAATAATATATTATATATTA TATTATATATTATAAATAATATATTATATATTATATTATATATTATAAAT AATATATTATATATTATATTATATATTATAAATAATATATTATATATTAT ATTATAAATAATATATTATATATTATAAATAATATATTATATATAATATG TTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF365_chr10_62369369_62407450	62370962	C C	CATATGTG others(629): Show CATATGTGATATATATCATATATATCACATATATGATATATATATGTGAT ATATATCATATATATCACATATATGATATATATCATATGTGATATATATC ATATATATCACATATATGATATATATCATATGTGATATATATCATATATC ACATATATGATATATATCATATGTGATATATATCATATATATCACATATA TGATATATATCATATGTGATATATATCATATATATCACATATATATATCA TATGTGATATATATCATATATATCACATATATGATATATATCATATGTGA TATATATCATATATATCACATATATGATATATATCATATATGTGATATAT ATCATATATATCACATATATGATATATATCATATATGTGATATATATCAC ATATGTGATATATATCATATCACATATCATATGACATATCATATCACATA TCACATATCACATATCATATGATATATATCACATGTGATATATAGCATAT GTGATATATATCATATATATCACATATGATATATAGCATATGTGATATAT ATCATATATATCACATATGATATATAGCATATGTGATATATATCATATAT ATCACATGTGATATATAGCATATGTGATATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	350	0.0029	636	c.-35 others(647): Show c.-3510_-3509insATATGTGATATATATCATATATATCACATATATG ATATATATATGTGATATATATCATATATATCACATATATGATATATATCA TATGTGATATATATCATATATATCACATATATGATATATATCATATGTGA TATATATCATATATCACATATATGATATATATCATATGTGATATATATCA TATATATCACATATATGATATATATCATATGTGATATATATCATATATAT CACATATATATATCATATGTGATATATATCATATATATCACATATATGAT ATATATCATATGTGATATATATCATATATATCACATATATGATATATATC ATATATGTGATATATATCATATATATCACATATATGATATATATCATATA TGTGATATATATCACATATGTGATATATATCATATCACATATCATATGAC ATATCATATCACATATCACATATCACATATCATATGATATATATCACATG TGATATATAGCATATGTGATATATATCATATATATCACATATGATATATA GCATATGTGATATATATCATATATATCACATATGATATATAGCATATGTG ATATATATCATATATATCACATGTGATATATAGCATATGTGATATATATG AT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3406		chr10	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(630): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	249	0.0040	637	c.49- others(652): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(630): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTC AGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCA CCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCT CAGTCCACTCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCC ACTCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18954.hp2 NA18970.hp2 others(7): Show HG04199.hp2 NA18954.hp2 NA18970.hp2 NA18979.hp1 NA18980.hp1 NA19000.hp2 NA19056.hp2 NA19080.hp1 NA19081.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0030 a0001c0001t0036	a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0005g0304 others(7): Show a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0005g0304 a0001c0001t0009g0022 a0001c0001t0009g0046 a0001c0001t0011g0125 a0001c0001t0013g0043 a0001c0001t0022g0047 a0001c0001t0030g0107 a0001c0001t0036g0044	10	337	0.0297	637	c.61+ others(652): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAG GTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATG TGTTGAGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGA GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTG GACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GGGGGGGGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAG GTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(630): Show CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCC GACATCACCTCAGCCCACCCCCCCTACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAACACATCAC CTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTC AGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGTCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCA CCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATCACCT CAGTCCACTCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCC ACTCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	337	0.0030	637	c.61+ others(652): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAG GTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATG TGTTGAGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGA GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTG GACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGA GGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GGGGGGGGTGGACTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTAGGGGGGGTGGGCTGAG GTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTN2_chr1_236681499_236769631	236756295	T T	TGTTAGAA others(630): Show TGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACC GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCG TTAGAACCCTGGTTATAGAGTATGTACTGCAGAGTGCCCGCTGCCACCGT TAGAACCCTGGTTATAGAGTATGTACTGCAGAGTGCCCGCTGCCACCATT AGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTA GAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAG AACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAA CCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAAC CCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACC CTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCC TGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCT GGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	344	0.0029	637	c.215 others(656): Show c.2155-1143_2155-1142insCGTTAGAACCCTGGTAATAGAGTATA TACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATGT ACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATGTA CTGCAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATATAC TGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACT GCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTG CAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGC AGAGTGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACTGCA GAGTGCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAG AGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGA GTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAG TGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGT GCCCGCTGCCACCGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTG CCCGCTGCCAC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113419014	T T	CCCTTCCT others(630): Show CCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTC CCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCC TTCTTCCCTCCCTCCCTCCCTCCTCTCTCTCCCTCCCTTCCTGTCTTTTC CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTC CCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTC CCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCT CTTTTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTT CTTTTCCTTCCCTCCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0027 a0027	a0027c0032 a0027c0032	a0027c0032t0027 a0027c0032t0027	a0027c0032t0027g0122 a0027c0032t0027g0122	1	262	0.0038	637	c.106 others(656): Show c.1061+3812_1061+3813insAGGGAGGGAGGAAGGGAGGGAGGGAG GGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAG GGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGAAGGGAGGG AGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAG GAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAA GGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAG GAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGG AGGGAGGGAGGGAAAAGACAGGAAGGGAGGGAGAGAGAGGAGGGAGGGAG GGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGG GAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AHRR_chr5_316714_443285	376527	G G	GGAAACAC others(630): Show GGAAACACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGG GAAACACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGG AAACACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGA AACACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAA ACACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAA CACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAAC ACAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACA CAGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACACGGAGAAACAC AGGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0038 a0005c0005t0038	a0005c0005t0038g0024 a0005c0005t0038g0024	1	268	0.0037	637	c.245 others(650): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAA AGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAA GATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAG ATGTGAATGAATGAGAACCGTGGGGTGAACACGGAGAAACACAGGAAAGA TGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGAT GTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATG TGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGT GAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTG AATGAATGAGAACCGTGGGGTGAACGCGGAGAAACACAGGAAAGATGTGA ATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCCGTG others(630): Show CCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACA CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACC CCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACA CTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACT TCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCTGTGACCACACACTGGCGGTG AGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCC GTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTG GCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTC CCACCCCGTGACCACACATTTACAGTGAACACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	246	0.0041	637	c.-20 others(648): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACAGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGT GGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCA CGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCC AGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACG GGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ASAP2_chr2_9201812_9410678	9305501	T T	TAGTAGTG others(630): Show TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGG CTGTAATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTA TAGATACTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTC TGGAGTAGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTAT ACATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAG GCTGTAATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGT ATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAG GGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGG GTATAGATATTGGTGGAGAGGCTGTAGTAGGTATAGATATTGGTGGAGGG GCTGTAGTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACGTATA GATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGG CTGTAGTAGTGGGGTATAGATATTGGTTGACAGGCTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0067 a0002c0001t0001g0067	1	210	0.0048	637	c.345 others(654): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGGCTGTAA TAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATA CTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTCTGGAGT AGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATACATAT TGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAGGCTGTA ATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGAT ATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTG TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGGTATAGATATTGGTGGAGGGGCTGTA GTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACGTATAGATATT GGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGGCTGTAG TAGTGGGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATAGATA TTGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9305501	T T	TAGTAGTG others(630): Show TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGG CTGTAATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTA TAGATACTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTC TGGAGTAGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTAT ACATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAG GCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGT ATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAG GGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGG GTATAGATATTGGTGGAGAGGCTGTAGTAGGTATAGATATTGGTGGAGGG GCTGTAGTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACGTATA GATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGG CTGTAGTAGTGGGGTATAGATATTGGTTGACAGGCTGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02886.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0031 a0001c0002t0009g0208 a0001c0002t0009g0031 a0001c0002t0009g0208	2	210	0.0095	637	c.345 others(654): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGGCTGTAA TAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATA CTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTCTGGAGT AGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATACATAT TGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAGGCTGTA GTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGAT ATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTG TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGGTATAGATATTGGTGGAGGGGCTGTA GTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACGTATAGATATT GGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGGCTGTAG TAGTGGGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATAGATA TTGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9305501	T T	TAGTAGTG others(630): Show TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGG CTGTAATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTA TAGATATTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTC TGGAGTAGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTAT ACATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAG GCTGTAATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGT ATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAG GGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGG GTATAGATATTGGTGGAGAGGCTGTAGTAGGTATAGATATTGGTGGAGGG GCTGTAGTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACGTATA GATATTGGTGGAGGGGCTGTAATAATGGGGTATAGATATTGGTGTAGAGG CTGTAGTAGTGGGGTATAGATATTGGTTGACAGGCTGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp1 HG02451.hp2 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0005 a0001c0003t0001 a0001c0004t0005	a0001c0003t0001g0029 a0001c0004t0005g0010 a0001c0003t0001g0029 a0001c0004t0005g0010	2	210	0.0095	637	c.345 others(654): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGGCTGTAA TAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATA TTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTCTGGAGT AGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATACATAT TGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAGGCTGTA ATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGAT ATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTG TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGGTATAGATATTGGTGGAGGGGCTGTA GTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACGTATAGATATT GGTGGAGGGGCTGTAATAATGGGGTATAGATATTGGTGTAGAGGCTGTAG TAGTGGGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATAGATA TTGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9305501	T T	TAGTAGTG others(630): Show TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGG CTGTAATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTA TAGATATTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTC TGGAGTAGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTAT ACATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAG GCTGTAATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGT ATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAG GGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGG GTATAGATATTGGTGGAGAGGCTGTAGTAGGTATAGATATTGGTGGAGGG GCTGTAGTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACGTATA GATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGG CTGTAGTAGTGGGGTATAGATATTGGTTGACAGGCTGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp2 others(15): Show HG00408.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp1 HG01934.hp2 HG02083.hp1 HG02735.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp2 NA18612.hp2 NA18953.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0008	a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 others(5): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 a0001c0004t0005 a0002c0001t0001 a0002c0001t0003 a0002c0008t0001 a0002c0008t0006	a0001c0002t0003g0148 a0001c0003t0001g0039 a0001c0003t0001g0046 others(15): Show a0001c0002t0003g0148 a0001c0003t0001g0039 a0001c0003t0001g0046 a0001c0003t0001g0153 a0001c0003t0001g0190 a0001c0003t0006g0006 a0001c0003t0006g0064 a0001c0003t0006g0065 a0001c0003t0006g0102 a0001c0003t0006g0104 a0001c0003t0006g0105 a0001c0003t0006g0135 a0001c0003t0006g0158 a0001c0004t0005g0035 a0002c0001t0001g0022 a0002c0001t0003g0099 a0002c0008t0001g0108 a0002c0008t0006g0103	18	210	0.0857	637	c.345 others(654): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGGCTGTAA TAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATA TTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTCTGGAGT AGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATACATAT TGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAGGCTGTA ATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGAT ATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTG TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGGTATAGATATTGGTGGAGGGGCTGTA GTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACGTATAGATATT GGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGGCTGTAG TAGTGGGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATAGATA TTGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9305501	T T	TAGTAGTG others(630): Show TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGG CTGTAATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTA TAGATATTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTC TGGAGTAGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTAT ACATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAG GCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGT ATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAG GGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGG GTATAGATATTGGTGGAGAGGCTGTAGTAGGTATAGATATTGGTGGAGGG GCTGTAGTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACGTATA GATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGG CTGTAGTAGTGGGGTATAGATATTGGTTGACAGGCTGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02717.hp1 HG03098.hp1 others(1): Show HG01496.hp2 HG02717.hp1 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0001 a0001c0011t0001 a0001c0003t0001 a0001c0011t0001	a0001c0003t0001g0169 a0001c0003t0001g0171 a0001c0003t0001g0172 others(1): Show a0001c0003t0001g0169 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0011t0001g0178	4	210	0.0191	637	c.345 others(654): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTAGTGGGGTATAGATAATTGGTGGAGGGGCTGTAA TAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATA TTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTCTGGAGT AGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATACATAT TGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAGGCTGTA GTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGAT ATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTG TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTAGGTATAGATATTGGTGGAGGGGCTGTA GTAGTGAGGTATAGATATTGGAGGGGCTGGAGTAGTGACGTATAGATATT GGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGGCTGTAG TAGTGGGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATAGATA TTGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS5_chr2_169474494_169511655	169484989	T T	TAAAAATC others(630): Show TAAAAATCCTAGAGATTGTAGGAGATATACCAAGAGCAAAGAAAAAGGCA AACAGAGGTGGTTGGTGGTTTTATATGGCAAACCCTTCCCACTCCATAAT TTCTCCTGGGACCGACAGAAAAATATAAAAGAATCAATAGATGTCCTGAG CCCATAGCCCACTTGTAAAGATAAAATGTTGCCTAGGTAAAATGGCGTAA GGAAAACAGGTATATCTATATAAAAACCAAAAAAAGTTAAAAATGAGTTT GCAAAGGATTATTTTTTAAATAGCTATTATTTGGGGAATGTTTATTGACA GTCACTGTTCTGAATCTTTTATATAAATATAATCTCGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02735.hp2 HG01074.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0149 a0001c0001t0003g0150	2	398	0.0050	637	c.143 others(654): Show c.143-1745_143-1744insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAATCCTAGAGATTGTAGGAGATA TACCAAGAGCAAAGAAAAAGGCAAACAGAGGTGGTTGGTGGTTTTATATG GCAAACCCTTCCCACTCCATAATTTCTCCTGGGACCGACAGAAAAATATA AAAGAATCAATAGATGTCCTGAGCCCATAGCCCACTTGTAAAGATAAAAT GTTGCCTAGGTAAAATGGCGTAAGGAAAACAGGTATATCTATATAAAAAC CAAAAAAAGTTAAAAATGAGTTTGCAAAGGATTATTTTTTAAATAGCTAT TATTTGGGGAATGTTTATTGACAGTCACTGTTCTGAATCTTTTATATAAA TATAATCTC	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(630): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTG GTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGAT GGGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTG ATAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGAT GACGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGA TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGAT GGTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGG TGATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0121 a0001c0001t0017g0121	1	292	0.0034	637	c.21 others(652): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCATCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCATCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCACCATCATCACCATCACCACCACCACCACCACCACCATCACCATCAC CACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCATCA CCACCGTCATCACCATCACCACCACCATCACCACCACCATCACCACCATC ATCACTATCACCACCATCACCACCATCATCACCACCACCACCACCACCAT CACCACCACCATCACCACCATCACCATCACCACCATCATCACCACCACCG TCACCCCCATCATTACCATCACCACCACCACCACCACCACCATGACCACC ACCACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCACCAC CACCACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCA CTACCACCCCCACCACCACTCTCACCACCATCACCATCACCCCCATCATC ACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(630): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTG GTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGAT GGGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTG ATAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGAT GATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGA TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGAT GGTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGG TGATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00673.hp1 others(20): Show HG00408.hp2 HG00544.hp2 HG00673.hp1 HG00738.hp2 HG01109.hp1 HG01256.hp2 HG01257.hp1 HG01496.hp1 HG01884.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02273.hp2 HG02300.hp1 HG02965.hp2 NA18522.hp1 NA18612.hp1 NA18959.hp2 NA18966.hp2 NA18970.hp1 NA18982.hp2 NA18995.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0029 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0117 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0045 a0001c0001t0003g0046	23	292	0.0788	637	c.21 others(652): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCATCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCATCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCACCATCATCACCATCACCACCACCACCACCACCACCATCACCATCAC CACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCATCA CCACCATCATCACCATCACCACCACCATCACCACCACCATCACCACCATC ATCACTATCACCACCATCACCACCATCATCACCACCACCACCACCACCAT CACCACCACCATCACCACCATCACCATCACCACCATCATCACCACCACCG TCACCCCCATCATTACCATCACCACCACCACCACCACCACCATGACCACC ACCACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCACCAC CACCACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCA CTACCACCCCCACCACCACTCTCACCACCATCACCATCACCCCCATCATC ACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CAPZA1_chr1_112614832_112676616	112640160	G G	GGCCAGCC others(630): Show GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGTGAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCAGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTCCTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGTGAGGGTCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	368	0.0027	637	c.40- others(652): Show c.40-7039_40-7038insCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGTGAGCCCCCCACCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCAGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTCCTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCTTCCGGGAGGTGAGGGTCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCA GCCGCCC	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(630): Show TGGGGTGGTGGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGGT GGGGTGGGGGAGGGTTGGGGTGGGGTGGGGAGGGGTGGGGTGGGGTGGGG GAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGTG TGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGAAGGGTATGGGTGGGGCTG GGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGC TACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGGAAGGGTGCAGG TGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGT GGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGA AGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTG TGGGTGGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGGT GGGGGAGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	284	0.0035	637	c.712 others(654): Show c.712-2416_712-2415insCCCACCCCACCCCACCCCTCCCACCCCA CCCCTCCCCCACCCCACCCCCTCCCACCCCTCCCCACCCCTCCCACCCCA CCCCCACCCACACCCCTCCCCCACCCCACCCACACCCTTCCCCCACCCCA CCTGCACCCTTCCCCCACCCCACCCCTCCCCCACCCCACCCAGGGAGTAG CCCCCACTCCACCCACCCCCTCCCACCCCACCCCACCCCTCCCCCACCCA CACCCTTCCCCCACCCCACCCCTCCCTCCCCCACCCCTCCTCCACCCCTC CTCCACCCCACCTGCACCCTTCCCCCCACCCCACCCCTCCTCCACCCCAC CCAGGGAGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCACCCCACCC CACCCCTCCCCAGCCCCACCCATACCCTTCCCCACTCCACCCCACCCCTC CCCAGCCCCACACACACCCTTCCCCCACCCCAACCCTCCCCAGCCCCACC CACACCCTTCCCCCACCCCACCCCACCCCTCCCCACCCCACCCCAACCCT CCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCCTTCCCCCACCC CAACCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCC CACCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CDH4_chr20_61247261_61945617	61716380	G G	GCTGGACC others(630): Show GCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGG CTGGACCTGTAAAGGGGTGGACGCTCCTCACCTGTGAGCCTCCTCTTGGC TGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCT GGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTG GACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGG ACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGA CCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGAC CTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACC TGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCT GTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTG TAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGT AAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTA AAGGGGTGGACGCTCCTCGCCTGTGACCCGCCCCTTGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0045 a0001c0010t0009g0045	1	106	0.0094	637	c.170 others(656): Show c.170-27178_170-27177insCCTGTAAAGGGGTGGACGCTCCTCGC CTGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCACC TGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCT GTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTG TGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGT GAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTG AGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGA GCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAG CCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGC CTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCC TCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCT CCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTC CTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGACCCGCC CCTTGACTGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61716380	G G	GCTGGACC others(630): Show GCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGG CTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGC TGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCT GGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTG GACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGG ACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGA CCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGAC CTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACC TGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCT GTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTG TAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGT AAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTA AAGGGGTGGACGCTCCTCGCCTGTGACCCGCCCCTTGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0046 a0001c0007t0046	a0001c0007t0046g0066 a0001c0007t0046g0066	1	106	0.0094	637	c.170 others(656): Show c.170-27178_170-27177insCCTGTAAAGGGGTGGACGCTCCTCGC CTGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCC TGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCT GTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTG TGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGT GAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTG AGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGA GCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAG CCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGC CTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCC TCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCT CCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTC CTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGACCCGCC CCTTGACTGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNIH4_chr1_224351879_224384452	224378516	A A	ACTGAGGC others(630): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTG AGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGA GGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAG GCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGG CCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGC CTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCC TAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCT AGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTA GAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAG AGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG06807.hp2 HG02809.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0071 a0001c0001t0019g0072 a0001c0001t0019g0071 a0001c0001t0019g0072	2	324	0.0062	637	c.30 others(648): Show c.3093_*3094insCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACAT CTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCT GAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTG AATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGA ATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAA TGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAAT GCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTG AGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGA GGC	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3094	INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(630): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATATAATTTTATATATAAATATATATAATTATATAT TTATATATAAATATATATAATTTTATATATAATATATATAATTTTATATA TTATATATAAATATATATATAATTTATATATAAATATATAAAATTATATA TAAATATATATAATTTATATATAAATATATATAATTTATATATATAAATA GATATAATTTTATATATTTATTTATATAAATTTTATATATTTATATAAAT AAATATATATTTATATATAAAAATTTATATACAAATATATATAAATATAT ACAAATATATATATAAATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp1 HG03486.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0024 a0002c0016 a0001c0002 a0001c0024 a0002c0016	a0001c0002t0007 a0001c0024t0015 a0002c0016t0003 a0001c0002t0007 a0001c0024t0015 a0002c0016t0003	a0001c0002t0007g0080 a0001c0024t0015g0057 a0002c0016t0003g0079 a0001c0002t0007g0080 a0001c0024t0015g0057 a0002c0016t0003g0079	3	116	0.0259	637	c.56- others(654): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATATAATTTTATATA TAAATATATATAATTATATATTTATATATAAATATATATAATTTTATATA TAATATATATAATTTTATATATTATATATAAATATATATATAATTTATAT ATAAATATATAAAATTATATATAAATATATATAATTTATATATAAATATA TATAATTTATATATATAAATAGATATAATTTTATATATTTATTTATATAA ATTTTATATATTTATATAAATAAATATATATTTATATATAAAAATTTATA TACAAATATATATAAATATATACAAATATATATATAAATTTATATAAATA TATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(630): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACATGCTATGTACATCATATAGTATGTATACTACATGCTAT GTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGT ATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTAC ATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATAC TACATGCTATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18992.hp1 NA18984.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0128 a0001c0001t0002g0076 a0001c0001t0002g0128	2	448	0.0045	637	c.51+ others(652): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA TACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTA CATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACA TACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATA GCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACT ATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCAT GTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATAT GATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAG TATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATG TACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(630): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	367	0.0027	637	c.-42 others(648): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAA others(630): Show CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAAT GACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0323 a0001c0003t0001g0323	1	384	0.0026	637	c.215 others(654): Show c.2155-366_2155-365insATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGA TGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAG CCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCA CTGCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
FKBP2_chr11_64236095_64249132	64237092	A A	AGGGAGAG others(630): Show AGGGAGAGGCAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	637	c.-40 others(648): Show c.-4045_-4044insGGGAGAGGCAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGG	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		4002		chr11	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(630): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0255 a0001c0004t0002g0255	1	384	0.0026	637	c.467 others(652): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGA GGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAG CGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GOLGA3_chr12_132763914_132833869	132776231	C C	CACAGGTA others(630): Show CACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTCCCTG CTGCTCCCGCCTGTGTCCAGCACCTCATACACAGGTACCTGCAGCAGCTG CTGTAGCCCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTGTCCAG CGCCTCATACACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCT TCCTCCCTGCTGCTCCCGCCTGTGTCCAGCACCTCATACACAGGTACCTG CAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCC TGTGTCCAGCACCTCATACACAGGTACCTGCAGCAGCTGCTGTAGCCCCT CCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTACCCAGCGCCTCATACA CAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTGCCCTGC TGCTCCCGCCTGTGCCCAGCGCCTCAGATACAGGTACCTGCAGCAGCTGC TGTAGCCCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTGCCCAGC GCCTCATACACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGTTCCTT CCTCCCTGCTGCTCCCGCCTGTGTCCAGCGCCTCAGAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02615.hp2 HG02895.hp1 others(1): Show HG01993.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 others(1): Show a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0001t0075	a0001c0001t0017g0015 a0001c0001t0026g0302 a0001c0001t0027g0306 others(1): Show a0001c0001t0017g0015 a0001c0001t0026g0302 a0001c0001t0027g0306 a0001c0001t0075g0128	4	308	0.0130	637	c.397 others(654): Show c.3978+402_3978+403insATCTGAGGCGCTGGACACAGGCGGGAGC AGCAGGGAGGAAGGAACTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTG TGTATGAGGCGCTGGGCACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGG AGGGGCTACAGCAGCTGCTGCAGGTACCTGTATCTGAGGCGCTGGGCACA GGCGGGAGCAGCAGGGCAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTG CAGGTACCTGTGTATGAGGCGCTGGGTACAGGCGGGAGCAGCAGGGCAGG AAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTGTGTATGAGGT GCTGGACACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGGAGGGGCTACA GCAGCTGCTGCAGGTACCTGTGTATGAGGTGCTGGACACAGGCGGGAGCA GCAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTGT GTATGAGGCGCTGGACACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGGA GGGGCTACAGCAGCTGCTGCAGGTACCTGTGTATGAGGTGCTGGACACAG GCGGGAGCAGCAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCA GGTACCTGT	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	21/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132776231	C C	CACAGGTA others(630): Show CACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTCCCTG CTGCTCCCGCCTGTGTCCAGCACCTCATACACAGGTACCTGCAGCAGCTG CTGTAGCCCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTGTCCAG TGCCTCATACACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCT TCCTCCCTGCTGCTCCCGCCTGTGTCCAGCACCTCATACACAGGTACCTG CAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCC TGTGTCCAGCACCTCATACACAGGTACCTGCAGCAGCTGCTGTAGCCCCT CCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTACCCAGCGCCTCATACA CAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTGCCCTGC TGCTCCCGCCTGTGCCCAGCGCCTCAGATACAGGTACCTGCAGCAGCTGC TGTAGCCCCTCCAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTGCCCAGC GCCTCATACACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGTTCCTT CCTCCCTGCTGCTCCCGCCTGTGTCCAGCGCCTCAGAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA21309.hp2 HG02818.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0028 a0001c0001t0017 a0001c0001t0028	a0001c0001t0017g0001 a0001c0001t0028g0305 a0001c0001t0017g0001 a0001c0001t0028g0305	2	308	0.0065	637	c.397 others(654): Show c.3978+402_3978+403insATCTGAGGCGCTGGACACAGGCGGGAGC AGCAGGGAGGAAGGAACTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTG TGTATGAGGCGCTGGGCACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGG AGGGGCTACAGCAGCTGCTGCAGGTACCTGTATCTGAGGCGCTGGGCACA GGCGGGAGCAGCAGGGCAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTG CAGGTACCTGTGTATGAGGCGCTGGGTACAGGCGGGAGCAGCAGGGCAGG AAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTGTGTATGAGGT GCTGGACACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGGAGGGGCTACA GCAGCTGCTGCAGGTACCTGTGTATGAGGTGCTGGACACAGGCGGGAGCA GCAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTGT GTATGAGGCACTGGACACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGGA GGGGCTACAGCAGCTGCTGCAGGTACCTGTGTATGAGGTGCTGGACACAG GCGGGAGCAGCAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCA GGTACCTGT	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	21/23			chr12	TogoVar
GRAMD4_chr22_46615386_46684785	46635747	C C	CCCCGACC others(630): Show CCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGCCCCC GCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCGCCCC CGGCCACTCCTGTCCGGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGC CACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCGCCCCCGGCCACTC CTGTCCGGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGT CCTGGGGGACCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCGGG GAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAA CCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGT GTCCTGCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCT TCCCTGCCCCGCCCCCGGCCACTCCTGTCCGGGGAGGCCGTGTCCTCCCT GCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCC CGCCCCCGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCACC CCTGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	1	328	0.0031	637	c.163 others(654): Show c.163-2090_163-2089insGACCCCGGCCACTCCTGTCCTGGGGAAC CGTGTCCTGCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTG TCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCGGGGAGGCCGTGTCCTC CCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTG CCCCGCCCCCGGCCACTCCTGTCCGGGGAGGCCGTGTCCTCCCTGCCCCC ACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCGCCCC CGGCCACTCCTGTCCGGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGC CACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACT CCTGTCCTGGGGAACCGTGTCCTGCCTGCCCCCGCCCCCGGCCACTCCTG TCCTGGGGGACCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCGG GGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGG ACCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCTGT ATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCT TCCCTGCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(630): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01175.hp1 others(1): Show HG00099.hp1 HG00639.hp2 HG01175.hp1 HG03688.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0002 a0007c0007t0002 a0003c0003t0002 a0007c0007t0002	a0003c0003t0002g0018 a0003c0003t0002g0039 a0003c0003t0002g0184 others(1): Show a0003c0003t0002g0018 a0003c0003t0002g0039 a0003c0003t0002g0184 a0007c0007t0002g0189	4	268	0.0149	637	c.-28 others(648): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(630): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0190	1	394	0.0025	637	c.41- others(652): Show c.41-3554_41-3553insAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(630): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGG GGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGA GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAG GGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAC GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0176 a0001c0001t0006g0177	2	204	0.0098	637	c.978 others(654): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACA GGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGG GCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(630): Show TAAGAAAAAAAGAAAAGAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0007 a0007c0007t0007	a0007c0007t0007g0240 a0007c0007t0007g0240	1	308	0.0033	637	c.127 others(656): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTT CTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTT CTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar

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Search Results (Total: 10000 hits)