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
DLGAP1_chr18_3491032_4460307	3618666	G G	GGGTGGCT others(883): Show GGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAG ATCACGAGGTCAGGAGTTTGATACCAGCCTGACCAACATGGTGAAACCCT GACTCTACTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGCGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGATATTGTACCATTGCACTCCAACCTAGGC GACGGAGTGAGACTCTGTCTCAAAAAACAAAACAAACAAGCAAAAAACAA ACAAACAAAACAGGCAGTTTTGGGTTGTGGGGCACACTTTTTTTTTTTTT TTTCTGAGATGGGAGTCTCACTCCGTCACCCAGGCTGGAGCGCAGTGGCG CGATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCAAGCGATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCA GCTAATTTTTTGTTTTTCTGTTTTCAGTACAGACAGGGTTTCACCGTGTT AGCCAGGATGGTCTTGATCTCCTAACCTCCTGATCTGCTCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCTCGGCCCCCAGAG CACACTTTTAAAGTTAACAGCTTGGCCTCCCTCTCCCAGCATTCATCCTC ACTGGGCCTAGTCCGCCTGTTACACCAGGGAAGAACTGAGTGATCTTTCT TAACTTCCCAGGATCTTAGCCCAATGCTATGGCCACTTGTGTCCCCCACC CCCCCAACAAATGCATATGTTGAAGTCCTAACTCTCAGAATGTAACTGTC TTGAGAGATAGGGTCTTTAAAGAGATGATTAGGCCAGGGGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	80	0.0125	890	c.159 others(911): Show c.1592-36419_1592-36418insACCCCTGGCCTAATCATCTCTTTA AAGACCCTATCTCTCAAGACAGTTACATTCTGAGAGTTAGGACTTCAACA TATGCATTTGTTGGGGGGGTGGGGGACACAAGTGGCCATAGCATTGGGCT AAGATCCTGGGAAGTTAAGAAAGATCACTCAGTTCTTCCCTGGTGTAACA GGCGGACTAGGCCCAGTGAGGATGAATGCTGGGAGAGGGAGGCCAAGCTG TTAACTTTAAAAGTGTGCTCTGGGGGCCGAGCGCGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAGGAGGTTAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTGAAAACAG AAAAACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACGGAGTGA GACTCCCATCTCAGAAAAAAAAAAAAAAAAGTGTGCCCCACAACCCAAAA CTGCCTGTTTTGTTTGTTTGTTTTTTGCTTGTTTGTTTTGTTTTTTGAGA CAGAGTCTCACTCCGTCGCCTAGGTTGGAGTGCAATGGTACAATATCGGC TCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCT CCTGAGTAGCTGGGATTACAGGCGCACACCACCAAGCCCGGCTAATTTTT GTATTTTTAGTAGAGTCAGGGTTTCACCATGTTGGTCAGGCTGGTATCAA ACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3618666	G G	GGGTGGCT others(883): Show GGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAG ATCACGAGGTCAGGAGTTTGATACCAGCCTGACCAACATGGTGAAACCCT GACTCTGCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGCGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGATATTGTACCATTGCACTCCAACCTAGGC GACGGAGTGAGACTCTGTCTCAAAAAACAAAACAAACAAGCAAAAAACAA ACAAACAAAACAGGCAGTTTTGGGTTGTGGGGCACACTTTTTTTTTTTTT TTTCTGAGATGGGAGTCTCACTCCGTCACCCAGGCTGGAGCGCAGTGGCG CGATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCAAGCGATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCA GCTAATTTTTTGTTTTTCTGTTTTCAGTACAGACAGGGTTTCACCGTGTT AGCCAGGATGGTCTTGATCTCCTAACCTCCTGATCTGCTCACCTCGGCCT CCCAAAGGGCTGGGATTACAGGCATGAGCCACCGCGCTCGGCCCCCAGAG CACACTTTTAAAGTTAACAGCTGGGCCTCCCTCTCCCAGCATTCATCCTC ACTGGGCCTAGTCTACCTGTTACACCAGGGAAGAACTGAGTGATCTTTCT TAACTTCCCAGGATCTTAGCCCAATGCTATGGCCACTTGTGTCCCCCGAC CCCCCAACAAATGCATATGTTGAAGTCCTAACTCTCAGAATGTAACTGTC TTGAGAGATAGGGTCTTTAAAGAGATGATTAGGCCAGGGGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA20300.hp1 HG01192.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0003 a0001c0001t0001g0005	2	80	0.0250	890	c.159 others(911): Show c.1592-36419_1592-36418insACCCCTGGCCTAATCATCTCTTTA AAGACCCTATCTCTCAAGACAGTTACATTCTGAGAGTTAGGACTTCAACA TATGCATTTGTTGGGGGGTCGGGGGACACAAGTGGCCATAGCATTGGGCT AAGATCCTGGGAAGTTAAGAAAGATCACTCAGTTCTTCCCTGGTGTAACA GGTAGACTAGGCCCAGTGAGGATGAATGCTGGGAGAGGGAGGCCCAGCTG TTAACTTTAAAAGTGTGCTCTGGGGGCCGAGCGCGGTGGCTCATGCCTGT AATCCCAGCCCTTTGGGAGGCCGAGGTGAGCAGATCAGGAGGTTAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTGAAAACAG AAAAACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACGGAGTGA GACTCCCATCTCAGAAAAAAAAAAAAAAAAGTGTGCCCCACAACCCAAAA CTGCCTGTTTTGTTTGTTTGTTTTTTGCTTGTTTGTTTTGTTTTTTGAGA CAGAGTCTCACTCCGTCGCCTAGGTTGGAGTGCAATGGTACAATATCGGC TCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCT CCTGAGTAGCTGGGATTACAGGCGCACACCACCAAGCCCGGCTAATTTTT GTATTTTTAGCAGAGTCAGGGTTTCACCATGTTGGTCAGGCTGGTATCAA ACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
FHIT_chr3_59742277_61256452	60551574	G G	GAGGGGAG others(883): Show GAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGGAGGGGAGGGGAGGAGGG GAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGG GGAGGGGAGGAGGAGAGGGGAAGGGGAAGGGAGAGGAGGGGGGAGGGGAA GAAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGAGGGGAGGGGAGGGG AGGGGGAGGGGGGAGGAGGGGAGGAGGGGTGGGGGGAGGGTGGAGGGGGA GGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGAG GGGGAGGAGGGGAGGGAAGGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGG GGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGA GGGGAGGGGGAGGGGGAGGAGGGGAGGGGGGAAGGGAGGGGGAGGAGGGG GGAGTAGGGGAGGGGGGGGAGGAGGGGGGAGGAGGAGGGGAGGAGGGGAG GGGAGGGGGAGGAGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGAGG AGGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGA GGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGGAGGA GGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGA GGGGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGAGGGGGAGGAGGGGAGG GGAGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAG GAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0019 a0001c0001t0001g0020	2	46	0.0435	890	c.-17 others(909): Show c.-17-14596_-17-14595insTCCCCTCCCCTCCTCCCCCCTCCTCC CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCCCTC CCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCTCCTCCTCCCCC TCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCC CCCTCCTCCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCTCCCC CCTCCTCCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCCCCCCTCCTCCCC CCCCTCCCCTACTCCCCCCTCCTCCCCCTCCCTTCCCCCCTCCCCTCCTC CCCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTC CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTTC CCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCC CTCCTCCCCCTCCCCTCCCCCTCCACCCTCCCCCCACCCCTCCTCCCCTC CTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCCCTTCTTCCCCTCCCCCCTCCTCTCCCTTCCCCTTCCCCT CTCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCT TCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTTCCCCTCCCCTCCCC TCCTCCCCTCCCCT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60551574	G G	GAGGGGAG others(883): Show GAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGGAGGGGAGGGGAGGAGGG GAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGG GGAGGGGAGGAGGAGAGGGGAAGGGGAAGGGAGAGGAGGGGGGAGGGGAA GAAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGAGGGGAGGGGAGGGG AGGGGGAGGGGGGAGGAGGGGAGGAGGGGTGGGGGGAGGGTGGAGGGGGA GGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGAG GGGGAGGAGGGGAGGGAAGGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGG GGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGA GGGGAGGGGGAGGGGGAGGAGGGGAGGGGGGAAGGGAGGGGGAGGAGGGG GGAGTAGGGGGGGGGGGGAGGAGGGGGGAGGAGGAGGGGAGGAGGGGAGG GGAGGGGGAGGAGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGA GGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAG GGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGGAGGAG GGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGGA GGAGGAGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGGAGG GGAGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAG GAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	46	0.0217	890	c.-17 others(909): Show c.-17-14596_-17-14595insTCCCCTCCCCTCCTCCCCCCTCCTCC CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCCCTC CCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCC CCTCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTC CCCCTCCTCCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCTCCC CCCTCCTCCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCCCCCCTCCTCCC CCCCCCCCCTACTCCCCCCTCCTCCCCCTCCCTTCCCCCCTCCCCTCCTC CCCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTC CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTTC CCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCC CTCCTCCCCCTCCCCTCCCCCTCCACCCTCCCCCCACCCCTCCTCCCCTC CTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCCCTTCTTCCCCTCCCCCCTCCTCTCCCTTCCCCTTCCCCT CTCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCT TCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTTCCCCTCCCCTCCCC TCCTCCCCTCCCCT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60551574	G G	GAGGGGAG others(883): Show GAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGGAGGGGAGGGGAGGAGGG GAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGG GGAGGGGAGGAGGAGAGGGGAAGGGGAAGGGAGAGGAGGGGGGAGGGGAA GAAGGGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGAGGGGAGGGGAGGGG AGGGGGAGGGGGGAGGAGGGGAGGAGGGGTGGGGGGAGGGTGGAGGGGGA GGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGGGAGGAGGGGAG GGGGAGGAGGGGAGGGAAGGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAG GAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGG GGAGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGAGG AGGGGAGGGGGAGGGGGAGGAGGGGAGGGGGGAAGGGAGGGGGAGGAGGG GGGAGTAGGGGAGGGGGGGGAGGAGGGGGGAGGAGGAGGGGAGGAGGGGA GGGGAGGGGGAGGAGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGAG GAGGGGGGGAGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGG AGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGGAGG AGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGG GAGGAGGAGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGGA GGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAG GAGGGGAGGGGAGGGGGAGGAGGGGGGAGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0041 a0001c0002t0006g0041	1	46	0.0217	890	c.-17 others(909): Show c.-17-14596_-17-14595insTCCCCTCCCCTCCTCCCCCCTCCTCC CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCC CTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCCCTCCCCTCCTCCCCC TCCCCTCTCCTCCTCCCCCTCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCC CCTCCTCCCCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCTCCTCCCCC CTCCTCCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCCCCCCTCCTCCCCC CCCTCCCCTACTCCCCCCTCCTCCCCCTCCCTTCCCCCCTCCCCTCCTCC CCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTC CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTTC CCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCCCCTCCC CTCCTCCCCCTCCCCTCCCCCTCCACCCTCCCCCCACCCCTCCTCCCCTC CTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCTCCCCTCTCCTCCCCTCC CCTCTCCTCCCCTTCTTCCCCTCCCCCCTCCTCTCCCTTCCCCTTCCCCT CTCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCT TCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTTCCCCTCCCCTCCCC TCCTCCCCTCCCCT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9			chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241807495	T T	TCCCTCCC others(883): Show TCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCC TCCCTCAGCCCAGGGATGTCTGCAGGCCACTCCCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTG CAGGCCACCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC TCCCTCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCCC TCAGCCCAGGGATGTCTGCAGGCCACTCCCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGATGTCTGCAGGCCACTCTCCCTCCCCCCTCAGC CCAGAGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTC AACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0115 a0002c0002t0002g0115	1	314	0.0032	890	c.33 others(901): Show c.3329_*3330insCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCC ACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACTCCCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGATGTCTGCAGGCCACCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCTCCCTCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACTCCCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACTCT CCCTCCCCCCTCAGCCCAGAGACCTCCGCAGGCCACCCTCCCTCCCTCCC CCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3209		chr2	TogoVar
GTPBP6_chrX_299759_323796	316177	C C	CACACAGA others(883): Show CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC ACACACACACAAACACACAGTAAATACCTCCCGACAGGGACAGACACACA CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC ACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGAGA CACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATACAT ACGCAGACACACACACACACACACACACACTAAATACATCCCGACAGGGA CAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC CAGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAC ACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACA CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACAC ATACACACGCAGACACACACACACACACACACACACACACAGTAAATACA TCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACA GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC ACACACACACACACACAGTAAATACATCCCGACAGGGACAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0001 a0014c0023t0001	a0014c0023t0001g0075 a0014c0023t0001g0075	1	155	0.0065	890	c.487 others(905): Show c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT CCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC TGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGT GTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAC TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTG TGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGT GTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTG TGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGT GTTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTAC TGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT TGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT GTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAGGTATTTACTGTGTGTT TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCG TATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGT GTCTCTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316177	C C	CACACAGA others(883): Show CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC ACACACACACAAACACACAGTAAATACCTCCCGACAGGGACAGACACACA CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC ACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGA GACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATAC ATACGCAGACACACACACACACACACACACACTAAATACATCCCGACAGG GACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACAT CCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACAC ACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACA GAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACACAT ACACACGCAGACACACACACACACACACACACACACACACAGTAAATACA TCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACA GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC ACACACACACACACACAGTAAATACATCCCGACAGGGACAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	155	0.0065	890	c.487 others(905): Show c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG TGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGG GATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGT CCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT ACTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG TCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGT CTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTG TGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGT TTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTG TGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT TGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT GTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAGGTATTTACTGTGTGTT TGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTG CCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTGCG TATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGTGT GTCTCTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TATTTTAT others(883): Show TATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	394	0.0025	890	c.41- others(905): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAATAAAAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(883): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC TCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCC TCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCC CTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTAC CCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCC TCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01168.hp1 HG01258.hp1 others(2): Show HG01123.hp2 HG01168.hp1 HG01258.hp1 HG01433.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0038 others(1): Show a0001c0001t0002 a0001c0001t0028 a0001c0001t0038 a0001c0001t0216	a0001c0001t0002g0005 a0001c0001t0002g0216 a0001c0001t0028g0218 others(2): Show a0001c0001t0002g0005 a0001c0001t0002g0216 a0001c0001t0028g0218 a0001c0001t0038g0233 a0001c0001t0216g0191	5	276	0.0181	890	c.65 others(901): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGAGGGC AGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAGG GGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGG AGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGA GGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGG GAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA AGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGA GGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGG GGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCA GGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGG AGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(883): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC TCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCC TCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGTCCC CTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTAC CCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCC TCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0016 a0001c0001t0039g0016	1	276	0.0036	890	c.65 others(901): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGACAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGAGGGC AGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAGG GGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGG AGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGA GGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGG GAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA AGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGA GGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGG GGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCA GGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGG AGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(883): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTAC TTACCTACTACACACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02615.hp1 HG00642.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0064 a0002c0002t0004 a0001c0001t0064 a0002c0002t0004	a0001c0001t0064g0276 a0002c0002t0004g0107 a0001c0001t0064g0276 a0002c0002t0004g0107	2	296	0.0068	890	c.368 others(907): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGG TAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGT AGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGG GTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCG GCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAG TAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATAAA others(883): Show AATATAAATTAATATATAATATATAATTAATATATAATATAATTATATAA TATAATTTATATATATATAATATAATTATATAATATAAATTATATATAAT ATAATTATATAATATATAATTATATATAATATAATATAATATATAATTAT ATATAATATAATTATATAATATATAATTTATATATAATATAATATATAAT AAATATAATTTATATATAATATAATTATATAATATAATTTATATATAATA TAATTATATAAATATATAATATATATATAATATAATTATATAATATATAA TTATATATAAATAATTAATATAAATATATAATAATAATAAATATAATTAT AATATATAATATAATATATAATATATATATATAATATAATATAATAATAT ATAATTATATATAATATAATATATAATATATAATTATATATAATATAATA TAATTATATAATATAATATATAATATATATATTATATTATATATTATATA ATTATAATATAATTATATAATATAATTATATTATATATAATTATATTAAA CATATTATATAATATATAATTATATTATATATTATATAATCTATAATTAT ATTATATATTATATAATATATAATTATATTATATATTATATAATATATAA TTATGTTATATATTATAATACATTTAATATAATTATATTATAGATTATAA TCTATAATATAATTATATTAATAGTATTATAATATATAATATATTATATA TAATTATATTATAACTTATTATATATAATTATATTATAGATCATAATCTA TAATATAATTATATATAATATGTTATAATATATAATTATATTCTATATAT AATTATATATAATATAATTATATTCTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	288	0.0035	890	c.-32 others(901): Show c.-3200_-3199insAATTATATTATATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATAAGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AACATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATAGATTATATAATATATAATATAATTATATATTATA TAATATGTTTAATATAATTATATATAATATAATTATATTATATAATTATA TTATAATTATATAATATATAATATAATATATATATTATATATTATATTAT ATAATTATATTATATTATATATAATTATATATTATATATTATATTATATA TAATTATATATTATTATATTATATTATATATATATATTATATATTATATT ATATATTATAATTATATTTATTATTATTATATATTTATATTAATTATTTA TATATAATTATATATTATATAATTATATTATATATATATTATATATTTAT ATAATTATATTATATATAAATTATATTATATAATTATATTATATATAAAT TATATTTATTATATATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAATTATATATTATATTATATTATATATAATTATATATTATA TAATTATATTATATATAATTTATATTATATAATTATATTATATATATATA AATTATATTATATAATTATATTATATATTAATTATATATTATATATTAAT TTATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(883): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCCTCCTCTCTCCTC CCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCCTCCCCTCCCCTCCTCTCTCCTCCCCT CCCCTTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCC TCCCCTCCCCTCCCCTCACCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTC CCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCT CCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCT CCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCT CTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCTCTCCTCTGCTCCTCTCCCCTCCCT TCCCCTCTCCCTCCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCC CCCTCCCTCTCCTCCACTCCTCTCCCTCTCCTCCACTCCTCTCCCCTCCC CTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCTCCTCCCTCC CCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCC CCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0046 a0001c0003t0001g0046	1	318	0.0031	890	c.-49 others(901): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGAGGAGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAG AGAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGAGAGGAGTGGAGGAGA GGGAGGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGGAGGGA GAGGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGAGGGGAGGAGAGAGG AGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGG AGCGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGG AGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGG AGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGG GGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGG GGAGCGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGGTGAGGGGAGGG GAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGG GAAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGGAGGGGAGGGGAGGAGAGAGGAGGGGA GGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGA GAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(883): Show GCCCTCCCCTCCCCTCCCCCCTCCCTCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCCT CCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCC CCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCC CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCC TTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCC CCTCCCCTCCCCCTCCCCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCT CCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCTC CCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC CTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCC TCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCC CCGCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCC CTCCCCCTCCCTTCCCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTC TGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTC CCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTC CTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0089 a0002c0014t0001g0089	1	278	0.0036	890	c.115 others(907): Show c.1157+156_1157+157insCCTCCCTCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCT CCTCCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCTCCCCCTCCCCTCCC CCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCC CCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCC CCCCCTCCCCTCCCCCTCCCCCCTTCCCCTCCCCTCCACCCTCCCCCTCT CCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTC CTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCTC CCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTC CCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCT TCCCCGCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCT TCCCTCCCCCTCCCTTCCCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCC CTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCC TTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTC CTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCC CCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPPED1_chr22_43407014_43512848	43432638	A A	AGAAAGGG others(883): Show AGAAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA TAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAG AGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0086 a0001c0002t0008g0086	1	250	0.0040	890	c.225 others(907): Show c.225-2394_225-2393insAAGGGAGGAGAGAGAGGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAAAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432638	A A	AGAAAGGG others(883): Show AGAAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA TAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAG AGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGA TAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATA AAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG02486.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0028 a0001c0002t0002 a0001c0002t0028	a0001c0002t0002g0091 a0001c0002t0028g0090 a0001c0002t0002g0091 a0001c0002t0028g0090	2	250	0.0080	890	c.225 others(907): Show c.225-2394_225-2393insAAGGGAGGAGAGAGAGGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA AAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA TAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO5A_chr15_52302283_52533880	52523965	G G	GACAGTGC others(883): Show GACAGTGCCATAGAATATAAAAGTGGATCTATCTCAGAAAAAATCTAGGC CATGTGGCTCCTGTATATATGAGAGGATATGTTGGGAATGGAAAGTTACA CATATACAATCTACTGACCTTAAGAGCTGTTTCATCTAGGCAAGTTAACA TGCTTTGCAAATGTGGAATTTTAGATTGTCTTTGCACTGTTACAATACTC AGCATCTCAGCACACATGGGAACCTCCTAATCAAACAGCTTCAGGTAAAA ACAAAACAAAACACAAAAGTAAACAAAAAAATTAAAACTTTTTTAAAATT AAAAATAAGCCAGGCATGGTGGCTCATGTCTGTAATCTCAACACTTTGAG TGGCCGAGGCAGGAGAATCATTTGACCTGAGGAGTTAGAGATCAGCCTGG GCAACACAGCAAGATCCTGTCTCTGTAAAAAGTACAAAAATTAGCTGGGT TTGGTAGCACATGCCTGTAGATTCAGCTACCCAGGAAGGTGAGGTGGGAG GATGGCTTGCACCTGGGAGGTCGATACTGCAATGAGCCATGTTCACACCA CTACACCTCAGCCTGGACAACAGAGTGAGACCCTGAACCTAAATAAATAA ATAAATAAATAAATAAATAAATAAATAAAATAGGCTGGGTGTGGTGGCTC ATGCCTGTAATCCCACACTATGGGAGGTGGAAGCAGGAGGATCACTTGAG TCCAGGAGTTTAAGACCAGCCTGGGCAACAAACTGAGACTATCTCTAGAA GAAATTTAAAAATTAGCTGGGTGCATAGCTGTGGTCCCAGCTACTCACGA GGCTGAGGTGGGAGGACAGCTTGAGCCCAGGAGTTAAAGGCTACAGTGAG CCATGTTCATTTCACTGCACTCCAGCCTGGGTGACACAGCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG00738.hp2 others(52): Show HG00609.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG02015.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG03195.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp2 NA18942.hp2 NA18944.hp1 NA18949.hp2 NA18955.hp2 NA18960.hp1 NA18978.hp2 NA18981.hp1 NA18986.hp1 NA18988.hp1 NA18991.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19088.hp2 NA20752.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0010 others(2): Show a0001c0001 a0002c0002 a0002c0010 a0002c0020 a0007c0027	a0001c0001t0001 a0002c0002t0002 a0002c0002t0006 others(10): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0010 a0002c0002t0015 a0002c0002t0032 a0002c0002t0042 a0002c0002t0043 a0002c0002t0044 a0002c0002t0077 a0002c0010t0033 a0002c0020t0006 a0007c0027t0002	a0001c0001t0001g0136 a0002c0002t0002g0081 a0002c0002t0002g0082 others(52): Show a0001c0001t0001g0136 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0107 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0006g0092 a0002c0002t0006g0104 a0002c0002t0006g0105 a0002c0002t0006g0106 a0002c0002t0006g0110 a0002c0002t0006g0115 a0002c0002t0006g0123 a0002c0002t0006g0124 a0002c0002t0006g0126 a0002c0002t0006g0127 a0002c0002t0006g0130 a0002c0002t0006g0133 a0002c0002t0010g0109 a0002c0002t0010g0111 a0002c0002t0010g0112 a0002c0002t0010g0113 a0002c0002t0010g0114 a0002c0002t0015g0121 a0002c0002t0015g0122 a0002c0002t0015g0129 a0002c0002t0032g0095 a0002c0002t0032g0099 a0002c0002t0042g0125 a0002c0002t0043g0084 a0002c0002t0044g0085 a0002c0002t0077g0301 a0002c0010t0033g0267 a0002c0010t0033g0268 a0002c0020t0006g0128 a0007c0027t0002g0118	55	302	0.1821	890	c.27+ others(905): Show c.27+4814_27+4815insTGCTGTGTCACCCAGGCTGGAGTGCAGTGA AATGAACATGGCTCACTGTAGCCTTTAACTCCTGGGCTCAAGCTGTCCTC CCACCTCAGCCTCGTGAGTAGCTGGGACCACAGCTATGCACCCAGCTAAT TTTTAAATTTCTTCTAGAGATAGTCTCAGTTTGTTGCCCAGGCTGGTCTT AAACTCCTGGACTCAAGTGATCCTCCTGCTTCCACCTCCCATAGTGTGGG ATTACAGGCATGAGCCACCACACCCAGCCTATTTTATTTATTTATTTATT TATTTATTTATTTATTTATTTAGGTTCAGGGTCTCACTCTGTTGTCCAGG CTGAGGTGTAGTGGTGTGAACATGGCTCATTGCAGTATCGACCTCCCAGG TGCAAGCCATCCTCCCACCTCACCTTCCTGGGTAGCTGAATCTACAGGCA TGTGCTACCAAACCCAGCTAATTTTTGTACTTTTTACAGAGACAGGATCT TGCTGTGTTGCCCAGGCTGATCTCTAACTCCTCAGGTCAAATGATTCTCC TGCCTCGGCCACTCAAAGTGTTGAGATTACAGACATGAGCCACCATGCCT GGCTTATTTTTAATTTTAAAAAAGTTTTAATTTTTTTGTTTACTTTTGTG TTTTGTTTTGTTTTTACCTGAAGCTGTTTGATTAGGAGGTTCCCATGTGT GCTGAGATGCTGAGTATTGTAACAGTGCAAAGACAATCTAAAATTCCACA TTTGCAAAGCATGTTAACTTGCCTAGATGAAACAGCTCTTAAGGTCAGTA GATTGTATATGTGTAACTTTCCATTCCCAACATATCCTCTCATATATACA GGAGCCACATGGCCTAGATTTTTTCTGAGATAGATCCACTTTTATATTCT ATGGCACTGT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	1/41			chr15	TogoVar
NEU4_chr2_241804193_241822413	241807495	T T	TCCCTCCC others(883): Show TCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCC TCCCTCAGCCCAGGGATGTCTGCAGGCCACTCCCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTG CAGGCCACCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC TCCCTCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCCC TCAGCCCAGGGATGTCTGCAGGCCACTCCCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGATGTCTGCAGGCCACTCTCCCTCCCCCCTCAGC CCAGAGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTC AACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0166 a0002c0003t0002g0166	1	319	0.0031	890	c.-17 others(901): Show c.-1783_-1782insCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCC ACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACTCCCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGATGTCTGCAGGCCACCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCTCCCTCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACTCCCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACTCT CCCTCCCCCCTCAGCCCAGAGACCTCCGCAGGCCACCCTCCCTCCCTCCC CCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1697		chr2	TogoVar
NXN_chr17_794310_984776	841420	C C	CGCATCTC others(883): Show CGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGC CGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGG TCCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACAGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCAAG CAGGTCCACCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCCCCC TGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCG CATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGT CCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGAGCATCTC ACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACATGGGCGAGC AGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGAGC ATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACGGG CGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCC CCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCAC GGAGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	242	0.0041	890	c.361 others(909): Show c.361-15343_361-15342insTCCATGGTCGGGAGGACCTGCTCGCG GGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATG CGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCA GGGGGGACCTGCTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGC TCGCGGGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTG AGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGT GGTCAGGGGGGACCTGCTCGCCCATGTGAGATGCTCCATGGTCGGGAGGA CCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGC TCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGG GGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGA GATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCTGTG GTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGAC CTGCTCGCCGGCGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGG TGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCT CCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGG GGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCG CGGGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841638	A A	ACCCTGAC others(883): Show ACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACG GAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC GCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCAAGCAG GTCCACCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGAC CATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACATGGGCG AGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCAC CCTGACCACGGCGCATCTCACATGGGCGAGCAGGTCCACCCTGACCACGG CGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACA CCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGG TCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGAC CACGGCGCATCTCACATGGGCGAGCAGGTCCCCCCTGACCACGGCGCATC TCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACATGGGCG AGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCC CCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGA GCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGT CCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	242	0.0041	890	c.361 others(909): Show c.361-15561_361-15560insGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGG GGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTC GCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGA TGCGCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCATGTGAGATGCGCCGTGGTCAGGGTGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCAT GTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGA GGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCATGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGGGGACCTGCTCGCCCATGTGAGATGCGCCGTGGTCAGGGTGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGC GTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCT GTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGG GACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATG CGCCGTGGTCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
SLX1A_chr16_30188875_30202561	30199227	C C	CAAAACCC others(883): Show CAAAACCCTCAGGGCAGAGCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCACGCCCGACCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCGGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGG GGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGATGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCG GGAGGTGAGGGGCGCTTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCACT GGGGATGGGCCATGATGACAATGGCGGTTTTGTGGAATAGAAAGGCGGGA AGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTGTGTGGAT AGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTC TTCTGCCTTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	194	0.0052	890	c.17 others(901): Show c.1761_*1762insAAAACCCTCAGGGCAGAGCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCACG CCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCGGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGCGGGGGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGG CCAGCCGCCCCGTCCGGGAGGATGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGTGAGGGGCGCTTCTGCCCAGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCACGACCCCGTCTGGGAGGTGT GCCCAGCGGCTCACTGGGGATGGGCCATGATGACAATGGCGGTTTTGTGG AATAGAAAGGCGGGAAGGGTGGGGAAAAAATTGAGAAATCGGATGGTTGC CGGGTCTGTGTGGATAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTG TACTAAGAAAAATTCTTCTGCCTTGGAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SLX1A	ENSG00000132207.18	transcript	ENST00000251303.11	protein_coding		1667		chr16	TogoVar
SUFU_chr10_102498972_102638535	102637386	A A	AATATATA others(883): Show AATATATATATTATATATTATATAACTATATATTATATATAATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATATATTATATATTATATAACTAT ATATTATATATATATTATATATTATATAACTATATATTATATATTATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATATATATTATATATTATATAACTATATAT TATATATATATATTATATATTATATAACATATATTATATATATATATTAT ATATTATATAACTATATATTATATATATATTATATATTATATAACTATAT ATTATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0012	1	268	0.0037	890	c.72 others(901): Show c.7231_*7232insATATATATATTATATATTATATAACTATATATTA TATATAATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATATATTAT ATATTATATAACTATATATTATATATATATTATATATTATATAACTATAT ATTATATATTATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATATATATTATATAT TATATAACTATATATTATATATATATATTATATATTATATAACATATATT ATATATATATATTATATATTATATAACTATATATTATATATATATTATAT ATTATATAACTATATATTATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3852		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(883): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATC CACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCGTATCC ACCCACCCACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCT ATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCT ATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCCCATC GTATCCACCCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCAC CATCCTATCCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATC CCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCAC CATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCAA CCCACCATCTGCCATCCTATCCACCCACCCACCCACCATCCACCATCCTA TCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCTA TCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCATC CACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCC GTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATC CATCCACCCACCTACCCATCCATCCTATCCATCCACCCATC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	258	0.0039	890	c.113 others(909): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACC CCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACC CACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACC CACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACT CACCCCCATACCCATCGTATCCACCCACCCACCATCCCCCATCGTATCCA CCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCAT CCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATC CACCCACCCACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCC TATCTACCCCCCCACCATCCACCATCCTATCCACCCCCCATCATCCACCA TCCTATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCC CCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCAC ATCCATCCTATCCACCCACCAACCCACCATCTGCCATCCTATCCACCCAC CCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCCATC CACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCCACT CACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCC CCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGT CTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCCTAT CCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(883): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCC ACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATC CACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACT ATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACC ATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCA CCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCC ATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCC ATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACAC TGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCC ATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCATCC ACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTCT ATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCT ATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCTATCT ACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCACCC TATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCATC CATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTATC TATCCACCCATCCACCTATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG00738.hp1 others(23): Show HG00423.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01109.hp1 HG01496.hp1 HG02015.hp2 HG02056.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02280.hp2 HG02572.hp1 HG02735.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 NA18945.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0083 others(23): Show a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0003g0022 a0001c0001t0003g0058 a0001c0001t0003g0178 a0001c0001t0003g0250 a0001c0001t0006g0135 a0001c0001t0008g0221 a0001c0001t0010g0224	26	258	0.1008	890	c.113 others(909): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCA CCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCA CCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCCT ATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCT ATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCAT CCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACC CGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATAT CCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCACC GTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCACC CACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATCTATCCACC CACCCACCCACACTATCCATCCACCCACCCAACCACCCATCCTATTCATC CATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTATTCATC CATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCCACACTATC CACCCACCCACACACCCTATCTACCCACCCAATATATCCACCCACCCACC TACACCATCCACCCACCCACCCTATCTATCCACCCACCCACACTATCCAT CCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTAT CCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATCCTATTCAT CCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGCGGGA others(883): Show AGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAC CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGG GGACAGTAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGG CGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG TGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACGGGGATGGGGCGGGAAGGGGACAGAAGAGCTCACGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAAGGG GACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGAAGAGCTCACG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGTGAAG GGGACAGCAGAGCTCATGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCA TGGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGTGG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0080 a0003c0006t0080	a0003c0006t0080g0296 a0003c0006t0080g0296	1	352	0.0028	890	c.299 others(907): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGA GCTCTGCTGTCCCCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCAT GAGCTCTGCTGTCCCCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTAC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTG AGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCC TTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCC TTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CCTGTGAGCTCTGGTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGT CCCTTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(883): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCC CTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC TCCCTCCTCCCTTCCTCCCTCCTCCCCTTCCCCCTTTCTCCCTCCCCCTT CCCCTTTCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTC CTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCT TCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCT TCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCC CTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACC CCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0144 a0009c0012t0001g0144	1	334	0.0030	890	c.657 others(905): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTC CTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTC CCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCC TCCTCCTTTCCTTTCTCCCTCCTCCCTTCCTCCCTCCTCCCCTTCCCCCT TTCTCCCTCCCCCTTCCCCTTTCTCCCTCCCCCTTCCTCCCTCCCCCCTT CCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCT TCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCT CCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTT CCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238870319	C C	CACACACC others(883): Show CACACACCCCACACACACACATCACATACCACACACACATCACATACCAC ACACACCCCACACACACATCACATACCACACACAAACCACACACCACACA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCATACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCATACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCATACACACCACACCCCATACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACACCGCACAC ACACCACACCCCATACACACCACACACCCCACACACACCACACACCCCAC ACACACCACACACCCCACACACACCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACACACCACACCCC ACACACACCACACCCCACACACCCCACACACACCACACACCCCACACACA CCACACACACCACACACCCCACACACACCACACACACCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CACCACACCCCACACACACCACACACACCACAGCCCACACACACCACACA CACCACACCCCACACACACCACACACACCACACCCCACACA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	338	0.0030	890	c.35 others(909): Show c.35+21586_*35+21587insACACACCCCACACACACACATCACAT ACCACACACACATCACATACCACACACACCCCACACACACATCACATACC ACACACAAACCACACACCACACACACACCACACACCCCACACACACCACA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCATACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCATACACACCACACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCATACACACCACACCC CATACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACACCGCACACACACCACACCCCATACACACCACACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACACCACACCCCACACACACCACACCCCACACACCCCAC ACACACCACACACCCCACACACACCACACACACCACACACCCCACACACA CCACACACACCACACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACACCACACCCCACACACACCACACACA CCACAGCCCACACACACCACACACACCACACCCCACACACACCACACACA CCACACCCCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(883): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATATATTA TATTATTATATATAATTATATATAATAATATAATATATATTATTATATAT TATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATTATATATAATAATATAATATATATTATTATATATAA TTATATATAATAATATAATATATATTATTATATATAATAATAATATATAT ATATTATTATATATAATTATATATAATAATATAATATATATTATTATATA TAATTATATATAATAATATAAATATATTATTATATATTATTATATATAAT AATATAATATATATTATATATTATTATATATAATAATATAATATATATTA TATATTATTATATATAATAATATAATATATATTATTATATATTATTATAT ATAATAATATAATATATATTATTATATATAATAATATAATATATATTATT ATATATTATTATATATAATAATATAATATATATTATTATATATAATAATA TAATATATATTATTATATATTATTATATATAATAATATAATATATATTAT TATATATAATAATATAATATATATTATTATATATTATTATATATAATAAT ATAATATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	238	0.0042	890	c.392 others(907): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATTATATTATTATATATAATTATATATAATAA TATATATTATATTATTATATATAATTATATATAATAATATATATTATATT ATTATATATAATAATATATAATAATATATATTATATTATTATATATAATT ATATATAATAATATAATATATATTATTATATATAATTATATATAATAATA TAATATATATTATTATATATAATAATATATAATAATATATATTATATTAT TATATATAATAATATATAATAATATATATTATATTATTATATATAATTAT ATATAATAATATATATTATATTATTATATATAATAATATATAATAATATA TATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
URB1_chr21_32306018_32398012	32361525	T T	TAAGACAC others(883): Show TAAGACACAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAG TGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGCCCAACAATGATAGACTGGATTAAG AAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGA TGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTC TCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTC ATAGGTGGTAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATAT CACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	338	0.0030	890	c.163 others(907): Show c.1639+366_1639+367insTTTTTTTTTTTTTTTTTTTTTATTATAC TCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTA TACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATT AGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAG TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTC AATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGC GATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAA GGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATA TGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCATTTGGGTTGG TTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCA TGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTA ATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAAT CGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACA GTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTC CTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATA GTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTT CATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCA TGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATT TGTTTGTGTCTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(884): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTT CCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTC CCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTT CTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCC CCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTT TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCTTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0108 a0006c0007t0108	a0006c0007t0108g0066 a0006c0007t0108g0066	1	262	0.0038	891	c.106 others(910): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA AAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGG GGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAG AAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAG GAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGG GAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAA GGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGG GGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAG AAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAA GAAGGAAGGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AP2A2_chr11_920870_1017240	980232	C C	GTGCCCGG others(884): Show GTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCC CGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGA GCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCC GGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAG CGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCG GTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGC GGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGG TGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCG GTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0158 a0001c0003t0002g0158	1	268	0.0037	891	c.604 others(906): Show c.604-967_604-966insGTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCC CGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGA GCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21			chr11	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(884): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC TCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTCCCC TCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCC CTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTAC CCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCC CTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	210	0.0048	891	c.273 others(908): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCCCTTCCCCTCCT GCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCC CTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCC CCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCC CTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTG CCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCT TCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTG CCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCC CCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCT CCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCC CTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTC CTGCCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC TCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASMT_chrX_1610059_1648081	1626799	G G	GGGTGGAT others(884): Show GGGTGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGACCAACATAGT GAAACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCG GGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTG AACCCAGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTCC AGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAG GTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGG CAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAA ACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGGT GCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAAC CGAGGAGGCGGAGATTACAGTGAGCCAAGATCGCGCCATTGCACTCCAGC CTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGTG CGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTGG ATCACCTGAGGTCACGAGTTCGAGACCAGCCTGACCAACATAGTGAAACC CCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGGTGCC TGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCGA GGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTG GGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGTGCGG TGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0160 a0002c0002t0002g0160	1	223	0.0045	891	c.375 others(906): Show c.375-751_375-750insCAGGAGGTGGAGATTGCAGTGAGCCAAGAT CGCGCCATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCATAA AATAAAATAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCC TGACCAACATAGTGAAACCCCATCTCTACTAAAAAATACAAAAATGAGCC AGGCATGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCA GGAGAATCGCTTGAACCGAGGAGGCGGAGATTACAGTGAGCCAAGATCGC GCCATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAAT AAAATAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAG AGGCCGAGGCAGGTGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGA CCAACATAGTGAAACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGG CATGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGA GAATCGCTTGAACCGAGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCC ATTGCACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAA ATAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGG CCGAGGCAGGTGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGACCA ACATAGTGAAACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCAT GGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAA TCGCTTGAACC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(884): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGG CCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCGGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	891	c.36 others(902): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGT CCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCG TCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCC GACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CFAP46_chr10_132803392_132947570	132914127	C C	CCCCGAGG others(884): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAG GCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACAC TGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGG CTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACT GCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0228 a0009c0018t0001g0228	1	246	0.0041	891	c.212 others(908): Show c.2121-870_2121-869insCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGG CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCG GGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGG ACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914424	C C	CCCCGAGG others(884): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAG GCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACAC TGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGG CTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACT GCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0037 a0037	a0037c0056 a0037c0056	a0037c0056t0001 a0037c0056t0001	a0037c0056t0001g0136 a0037c0056t0001g0136	1	246	0.0041	891	c.212 others(910): Show c.2121-1167_2121-1166insCCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGG CTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG CCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGC TGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCT GGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20357772	C C	CTGAGGGG others(884): Show CTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCATACTGAGGGGAGGTGGTCACAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	236	0.0042	891	c.351 others(910): Show c.3514-2420_3514-2419insCTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCATACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGA GGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGA GGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGG TCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGA GGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(884): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCT CTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCC CCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTC CTCCTCTCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCC CTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCC TCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0151 a0001c0003t0010g0151	1	270	0.0037	891	c.162 others(912): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCC TCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTC CTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCT CCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(884): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATGATATGGGGGTGGGGA AGGGATGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTAT AGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTGATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGGGGTGGGGACAGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGG GGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGT ACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAA TATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGG GCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAG TTTATAGATAATATGGGGGCGGGGCAGAGGGTGCAATTTATAGATAATAT GAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGG GGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG02451.hp2 HG02895.hp1 HG02897.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0007 a0001c0003t0032 a0001c0010t0001 a0001c0003t0007 a0001c0003t0032 a0001c0010t0001	a0001c0003t0007g0003 a0001c0003t0032g0004 a0001c0010t0001g0005 others(1): Show a0001c0003t0007g0003 a0001c0003t0032g0004 a0001c0010t0001g0005 a0001c0010t0001g0006	4	272	0.0147	891	c.109 others(910): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATGATA TGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGACAG GGTGCAGTTTATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTT GATAGATGATATGGGGGTGGGGACAGGGTGCAGTTTATAGATGATATGGG GGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGG CGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTA TAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGG CGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTA GTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAAT ATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGG TAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGAGGGTGCAATT TATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGG GGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGG GTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRIP3_chr6_43300472_43313826	43312604	T T	TAAAAATT others(884): Show TAAAAATTATTTAAAAAAGAAATGAAGCCGGACGCGATGGTTCACGCCTG TAATCCCAGCACTTTGGGAAGCTGAGGTGGGTGGATCGCTTGAGGTCAGG AGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAA TACAAAAATTAGCCAGGCATGGTGGTGCACGCTTGTAATCCCAGCTACTC GGGAGGCTGAGGCACAAGAATTGCTTGAACCTGGGCGGAAGTTGCAGTGA GCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCAG TCTCAAAAAATAATAATTTTTAGTTTTTGTGGTTACCTAGTAGTGAGATT GCTACATCGTATATTGCTATGCTCTATTTTTAGATTTTGAGGAACCTCTA AACTCTTCTCCACAGTGGCTGTACTAATTTACATTCCCATCAACAGTGTA TGAGTGTTCCCTTTTCTCTACATCCTTGCCAGCATTTCTTATTGCCTCTC TTTTGGATAAAAGCCATTTTAACTTGGGTGAGATGTTATCTGTTTTGATT TGTATTTGTATGATCAATTACAGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02602.hp1 HG03491.hp1 others(6): Show HG02486.hp2 HG02602.hp1 HG03491.hp1 HG04199.hp1 NA18522.hp1 NA18945.hp1 NA19062.hp1 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008	9	376	0.0239	891	c.-38 others(902): Show c.-3813_-3812insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTAATTGATCATA CAAATACAAATCAAAACAGATAACATCTCACCCAAGTTAAAATGGCTTTT ATCCAAAAGAGAGGCAATAAGAAATGCTGGCAAGGATGTAGAGAAAAGGG AACACTCATACACTGTTGATGGGAATGTAAATTAGTACAGCCACTGTGGA GAAGAGTTTAGAGGTTCCTCAAAATCTAAAAATAGAGCATAGCAATATAC GATGTAGCAATCTCACTACTAGGTAACCACAAAAACTAAAAATTATTATT TTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGTGTG ATCTCAGCTCACTGCAACTTCCGCCCAGGTTCAAGCAATTCTTGTGCCTC AGCCTCCCGAGTAGCTGGGATTACAAGCGTGCACCACCATGCCTGGCTAA TTTTTGTATTTTTAGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGT CTCGAACTCCTGACCTCAAGCGATCCACCCACCTCAGCTTCCCAAAGTGC TGGGATTACAGGCGTGAACCATCGCGTCCGGCTTCATTTCTTTTTTAAAT AATTTTT	CRIP3	ENSG00000146215.14	transcript	ENST00000372569.8	protein_coding		3779		chr6	TogoVar
CTU2_chr16_88701503_88720396	88713126	T T	TGAGAGCC others(884): Show TGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCTGAGAGCCCCCTTCCCCGGGCCCTGAC CCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCACTC ATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	418	0.0024	891	c.738 others(906): Show c.738-176_738-175insTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCTGAGAGCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYSLTR1_chrX_78266468_78332611	78269606	A A	AATACAGA others(884): Show AATACAGAACATATATTATATATAATATATATAAATACAGAATATATATT ATATATAATATATAAATATAGAATATATATTATATATAAATATAGAATAT ATATTATATATAATATTAAATATAGAATATATATTATATATTATATATAA ATATAGAATATATATTATATTATATATAAATATAGAATATATATTATATA TGATATATATAAATATAGAATATATATTATATATTATATATAATATAGAA TATAGAATATATATTATATATTATATATAATATATATTATATATAATATA GAATATAGAATATATATTATATATAATATAGAATATAGAATATATATTAT ATATAATATAGAATATAGAATATATATTATATATAATATAGAATATAGAA TATATATTATATATAATATAGAATATAGAATATATATTATGTATATATAA TATAGAATGTATATTCTATATTATATATAATATAGAATATATAATATATT TATATATAATATAGAATATATTCTATATAATATAGAATATATAACATATT ATATATAAATATAATATATATTCTATATTTAATAGAATATATAATATACA TTCTATATTTATCTAGAATATATAATATATTCTATATAAATATGGAATAT ATATTATATATTCTATATTTATATAGAATATATAATATATTCTATATAAT ATATATTCTATATATATATAGAATATATTCTATATATATATAGAATATAT ATTATATATATAGAAAATATATTATATATTCTATATTTATATATAATATA TATATTATATTCTATATTTATATAGAATATAAATATATAATATATAATAT TTGTATATGTACTATATATTATATAATATATATAATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 NA18960.hp1 HG02683.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0066 a0001c0002t0002g0006 a0001c0002t0002g0066	2	240	0.0083	891	c.31 others(902): Show c.3126_*3127insATATGTATTATATATATTATATAATATATAGTAC ATATACAAATATTATATATTATATATTTATATTCTATATAAATATAGAAT ATAATATATATATTATATATAAATATAGAATATATAATATATTTTCTATA TATATAATATATATTCTATATATATATAGAATATATTCTATATATATATA GAATATATATTATATAGAATATATTATATATTCTATATAAATATAGAATA TATAATATATATTCCATATTTATATAGAATATATTATATATTCTAGATAA ATATAGAATGTATATTATATATTCTATTAAATATAGAATATATATTATAT TTATATATAATATGTTATATATTCTATATTATATAGAATATATTCTATAT TATATATAAATATATTATATATTCTATATTATATATAATATAGAATATAC ATTCTATATTATATATACATAATATATATTCTATATTCTATATTATATAT AATATATATTCTATATTCTATATTATATATAATATATATTCTATATTCTA TATTATATATAATATATATTCTATATTCTATATTATATATAATATATATT CTATATTCTATATTATATATAATATATATTATATATAATATATAATATAT ATTCTATATTCTATATTATATATAATATATAATATATATTCTATATTTAT ATATATCATATATAATATATATTCTATATTTATATATAATATAATATATA TTCTATATTTATATATAATATATAATATATATTCTATATTTAATATTATA TATAATATATATTCTATATTTATATATAATATATATTCTATATTTATATA TTATATATAATATATATTCTGTATTTATATATATTATATATAATATATGT TCTGTAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		1861		chrX	TogoVar
DCLK2_chr4_150073445_150262438	150250925	T T	TCCCTCAC others(884): Show TCCCTCACACCCCCCAAATCCCCCACACCCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCACACCCCCCACATCCCCCCACACCCCCACACAC CCCCACACCACACATCCCCCACATCCCCACACACCCCCACACCCCCACAC ACCCCCCACACACCCCCACACCCCCACACCACACATCCCCCACACCCCCC ACACCCCCCACATCCCCCCACACCCCCACACACCCCCACACCACACATCC CCCACACCCCCACACCCCCCACACCCCCTCACACACCCCCCACACCACCC CCACACCACACCATCCCCCACATCCCCACACCCCCCACATCCCCCCACAC CCCCACACACCCCCCACACCACACATCCCCCACACCCCCACACCCCCCAC ACCCCTCACACCCCCACACACCCCACACCACACATCCCCCACACCCCCAC ACCCCCCACATCCCCCCACACCCCCCCACAACACCCCCCACACCACACAT CCCCCACATCCCCACACACCCCCACACCCCCACACACCCCCACACCACAC ATCCCCCACATCCCCACACACCCCCACACCCCCACACACCCCCCACACCA CACATCCCCACATCCCCACACACCCCCCATCACCCCCACACACCCCCCAC ACCACACATCCCCCACATCCCCACACACCCCCCACACCCCCACACACCCC CACACCACACATCCCCCACATCCCCACACACCCCCACACCCCCCACACAC CCCCACACCACACATCCCCCACATCCCCACACACCCCCACACCCCCACAC ACCCCCACACCACACATCCCCCACATCCCCACACACCCCCACACCCCCAC ACACCCCCACACCCCACACCACATCCCCCACACCCCCACACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0080 a0001c0001t0010g0080	1	116	0.0086	891	c.207 others(910): Show c.2073+1243_2073+1244insCTCACACCCCCCAAATCCCCCACACC CCCACACACCCCCCACACCACACATCCCCCACACCCCCACACCCCCCACA TCCCCCCACACCCCCACACACCCCCACACCACACATCCCCCACATCCCCA CACACCCCCACACCCCCACACACCCCCCACACACCCCCACACCCCCACAC CACACATCCCCCACACCCCCCACACCCCCCACATCCCCCCACACCCCCAC ACACCCCCACACCACACATCCCCCACACCCCCACACCCCCCACACCCCCT CACACACCCCCCACACCACCCCCACACCACACCATCCCCCACATCCCCAC ACCCCCCACATCCCCCCACACCCCCACACACCCCCCACACCACACATCCC CCACACCCCCACACCCCCCACACCCCTCACACCCCCACACACCCCACACC ACACATCCCCCACACCCCCACACCCCCCACATCCCCCCACACCCCCCCAC AACACCCCCCACACCACACATCCCCCACATCCCCACACACCCCCACACCC CCACACACCCCCACACCACACATCCCCCACATCCCCACACACCCCCACAC CCCCACACACCCCCCACACCACACATCCCCACATCCCCACACACCCCCCA TCACCCCCACACACCCCCCACACCACACATCCCCCACATCCCCACACACC CCCCACACCCCCACACACCCCCACACCACACATCCCCCACATCCCCACAC ACCCCCACACCCCCCACACACCCCCACACCACACATCCCCCACATCCCCA CACACCCCCACACCCCCACACACCCCCACACCACACATCCCCCACATCCC CACACACCCCCACACCCCCACACACCCCCACACCCCACACCACATCCCCC ACACCCCCACACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DLGAP1_chr18_3491032_4460307	3618666	G G	GGGTGGCT others(884): Show GGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAG ATCACGAGGTCAGGAGTTTGATACCAGCCTGACCAACATGGTGAAACCCT GACTCTACTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGCGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGATATTGTACCATTGCACTCCAACCTAGGC GACGGAGTGAGACTCTGTCTCAAAAAACAAAACAAACAAGCAAAAAACAA ACAAACAAAACAGGCAGTTTTGGGTTGTGGGGCACACTTTTTTTTTTTTT TTTTCTGAGATGGGAGTCTCACTCCGTCACCCAGGCTGGAGCGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGTCTCCCCGGTTCAAGCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCC AGCTAATTTTTTGTTTTTCTGTTTTCAGTACAGACAGGGTTTCACCGTGT TAGCCAGGATGGTCTTGATCTCCTAACCTCCTGATCTGCTCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCTCGGCCCCCAGA GCACACTTTTAAAGTTAACAGCTTGGCCTCCCTCTCCCAGCATTCATCCT CACTGGGCCTAGTCCGCCTGTTACACCAGGGAAGAACTGAGTGATCTTTC TTAACTTCCCAGGATCTTAGCCCAATGCTATGGCCACTTGTGTCCCCCAC CCCCCCAACAAATGCATATGTTGAAGTCCTAACTCTCAGAATGTAACTGT CTTGAGAGATAGGGTCTTTAAAGAGATGATTAGGCCAGGGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02451.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0039 a0001c0001t0022 a0001c0001t0039	a0001c0001t0022g0043 a0001c0001t0039g0056 a0001c0001t0022g0043 a0001c0001t0039g0056	2	80	0.0250	891	c.159 others(912): Show c.1592-36419_1592-36418insACCCCTGGCCTAATCATCTCTTTA AAGACCCTATCTCTCAAGACAGTTACATTCTGAGAGTTAGGACTTCAACA TATGCATTTGTTGGGGGGGTGGGGGACACAAGTGGCCATAGCATTGGGCT AAGATCCTGGGAAGTTAAGAAAGATCACTCAGTTCTTCCCTGGTGTAACA GGCGGACTAGGCCCAGTGAGGATGAATGCTGGGAGAGGGAGGCCAAGCTG TTAACTTTAAAAGTGTGCTCTGGGGGCCGAGCGCGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAGGAGGTTAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTGAAAACAG AAAAACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGACGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACGGAGTGA GACTCCCATCTCAGAAAAAAAAAAAAAAAAAGTGTGCCCCACAACCCAAA ACTGCCTGTTTTGTTTGTTTGTTTTTTGCTTGTTTGTTTTGTTTTTTGAG ACAGAGTCTCACTCCGTCGCCTAGGTTGGAGTGCAATGGTACAATATCGG CTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCC TCCTGAGTAGCTGGGATTACAGGCGCACACCACCAAGCCCGGCTAATTTT TGTATTTTTAGTAGAGTCAGGGTTTCACCATGTTGGTCAGGCTGGTATCA AACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3618666	G G	GGGTGGCT others(884): Show GGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAG ATCACGAGGTCAGGAGTTTGATACCAGCCTGACCAACATGGTGAAACCCT GACTCTACTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGCGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGATATTGTACCATTGCACTCCAACCTAGGC GACGGAGTGAGACTCTGTCTCAAAAAACAAAACAAACAAGCAAAAAACAA ACAAACAAAACAGGCAGTTTTGGGTTGTGGGGCACACTTTTTTTTTTTTT TTTTCTGAGATGGGAGTCTCACTCCGTCACCCAGGCTGGAGCGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCAAGCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCC AGCTAATTTTTTGTTTTTCTGTTTTCAGTACAGACAGGGTTTCACCGTGT TAGCCAGGATGGTCTTGATCTCCTAACCTCCTGATCTGCTCGCCTCGGCC TCCCAAAGGGCTGGGATTACAGGCATGAGCCACCGCGCTCGGCCCCCAGA GCACACTTTTAAAGTTAACAGCTGGGCCTCCCTCTCCCAGCATTCATCCT CACTGGGCCTAGTCTACCTGTTACACCAGGGAAGAACTGAGTGATCTTTC TTAACTTCCCAGGATCTTAGCCCAATGCTATGGCCACTTGTGTCCCCCGA CCCCCCAACAAATGCATATGTTGAAGTCCTAACTCTCAGAATGTAACTGT CTTGAGAGATAGGGTCTTTAAAGAGATGATTAGGCCAGGGGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0069 a0001c0002t0034g0069	1	80	0.0125	891	c.159 others(912): Show c.1592-36419_1592-36418insACCCCTGGCCTAATCATCTCTTTA AAGACCCTATCTCTCAAGACAGTTACATTCTGAGAGTTAGGACTTCAACA TATGCATTTGTTGGGGGGTCGGGGGACACAAGTGGCCATAGCATTGGGCT AAGATCCTGGGAAGTTAAGAAAGATCACTCAGTTCTTCCCTGGTGTAACA GGTAGACTAGGCCCAGTGAGGATGAATGCTGGGAGAGGGAGGCCCAGCTG TTAACTTTAAAAGTGTGCTCTGGGGGCCGAGCGCGGTGGCTCATGCCTGT AATCCCAGCCCTTTGGGAGGCCGAGGCGAGCAGATCAGGAGGTTAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTGAAAACAG AAAAACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACGGAGTGA GACTCCCATCTCAGAAAAAAAAAAAAAAAAAGTGTGCCCCACAACCCAAA ACTGCCTGTTTTGTTTGTTTGTTTTTTGCTTGTTTGTTTTGTTTTTTGAG ACAGAGTCTCACTCCGTCGCCTAGGTTGGAGTGCAATGGTACAATATCGG CTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCC TCCTGAGTAGCTGGGATTACAGGCGCACACCACCAAGCCCGGCTAATTTT TGTATTTTTAGTAGAGTCAGGGTTTCACCATGTTGGTCAGGCTGGTATCA AACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3618666	G G	GGGTGGCT others(884): Show GGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAG ATCACGAGGTCAGGAGTTTGATACCAGCCTGACCAACATGGTGAAACCCT GACTCTACTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGCGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGATATTGTACCATTGCACTCCAACCTAGGC GACGGAGTGAGACTCTGTCTCAAAAAACAAAACAAACAAGCAAAAAACAA ACAAACAAAACAGGCAGTTTTGGGTTGTGGGGCACACTTTTTTTTTTTTT TTTTCTGAGATGGGAGTCTCACTCCGTCACCCAGGCTGGAGCGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCAAGCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCC AGCTAATTTTTTGTTTTTCTGTTTTCAGTACAGACAGGGTTTCACCGTGT TAGCCAGGATGGTCTTGATCTCCTAACCTCCTGATCTGCTCGCCTCGGCC TCCCAAAGGGCTGGGATTACAGGCATGAGCCACCGCGCTCGGCCCCCAGA GCACACTTTTAAAGTTAACAGCTGGGCCTCCCTCTCCCAGCATTCATCCT CACTGGGCCTAGTCTGCCTGTTACACCAGGGAAGAACTGAGTGATCTTTC TTAACTTCCCAGGATCTTAGCCCAATGCTATGGCCACTTGTGTCCCCCGA CCCCCCAACAAATGCATATGTTGAAGTCCTAACTCTCAGAATGTAACTGT CTTGAGAGATAGGGTCTTTAAAGAGATGATTAGGCCAGGGGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0014 a0001c0001t0004 a0001c0002t0014	a0001c0001t0004g0016 a0001c0002t0014g0064 a0001c0001t0004g0016 a0001c0002t0014g0064	2	80	0.0250	891	c.159 others(912): Show c.1592-36419_1592-36418insACCCCTGGCCTAATCATCTCTTTA AAGACCCTATCTCTCAAGACAGTTACATTCTGAGAGTTAGGACTTCAACA TATGCATTTGTTGGGGGGTCGGGGGACACAAGTGGCCATAGCATTGGGCT AAGATCCTGGGAAGTTAAGAAAGATCACTCAGTTCTTCCCTGGTGTAACA GGCAGACTAGGCCCAGTGAGGATGAATGCTGGGAGAGGGAGGCCCAGCTG TTAACTTTAAAAGTGTGCTCTGGGGGCCGAGCGCGGTGGCTCATGCCTGT AATCCCAGCCCTTTGGGAGGCCGAGGCGAGCAGATCAGGAGGTTAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTGAAAACAG AAAAACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACGGAGTGA GACTCCCATCTCAGAAAAAAAAAAAAAAAAAGTGTGCCCCACAACCCAAA ACTGCCTGTTTTGTTTGTTTGTTTTTTGCTTGTTTGTTTTGTTTTTTGAG ACAGAGTCTCACTCCGTCGCCTAGGTTGGAGTGCAATGGTACAATATCGG CTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCC TCCTGAGTAGCTGGGATTACAGGCGCACACCACCAAGCCCGGCTAATTTT TGTATTTTTAGTAGAGTCAGGGTTTCACCATGTTGGTCAGGCTGGTATCA AACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3618666	G G	GGGTGGCT others(884): Show GGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAG ATCACGAGGTCAGGAGTTTGATACCAGCCTGACCAACATGGTGAAACCCT GACTCTACTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGCGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGATATTGTACCATTGCACTCCAACCTAGGC GACGGAGTGAGACTCTGTCTCAAAAAACAAAACAAACAAGCAAAAAACAA ACAAACAAAACAGGCAGTTTTGGGTTGTGGGGCACACTTTTTTTTTTTTT TTTTCTGAGATGGGAGTCTCACTCCGTCACCCAGGCTGGAGCGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCAAGCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCC AGCTAATTTTTTGTTTTTCTGTTTTCAGTACAGACAGGGTTTCACCGTGT TAGCCAGGATGGTCTTGATCTCCTAACCTCCTGATCTGCTCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCTCGGCCCCCAGA GCACACTTTTAAAGTTAACAGCTTGGCCTCCCTCTCCCAGCATTCATCCT CACTGGGCCTAGTCCGCCTGTTACACCAGGGAAGAACTGAGTGATCTTTC TTAACTTCCCAGGATCTTAGCCCAATGCTATGGCCACTTGTGTCCCCCAC CCCCCCAACAAATGCATATGTTGAAGTCCTAACTCTCAGAATGTAACTGT CTTGAGAGATAGGGTCTTTAAAGAGATGATTAGGCCAGGGGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp1 HG02559.hp2 others(9): Show HG01192.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG03130.hp1 HG03669.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0003c0010	a0001c0001t0008 a0001c0002t0007 a0001c0002t0008 others(9): Show a0001c0001t0008 a0001c0002t0007 a0001c0002t0008 a0001c0002t0029 a0001c0003t0011 a0001c0003t0015 a0001c0003t0023 a0001c0003t0028 a0001c0003t0033 a0001c0006t0005 a0001c0008t0025 a0003c0010t0003	a0001c0001t0008g0045 a0001c0002t0007g0022 a0001c0002t0008g0037 others(9): Show a0001c0001t0008g0045 a0001c0002t0007g0022 a0001c0002t0008g0037 a0001c0002t0029g0032 a0001c0003t0011g0010 a0001c0003t0015g0078 a0001c0003t0023g0015 a0001c0003t0028g0036 a0001c0003t0033g0077 a0001c0006t0005g0007 a0001c0008t0025g0049 a0003c0010t0003g0057	12	80	0.1500	891	c.159 others(912): Show c.1592-36419_1592-36418insACCCCTGGCCTAATCATCTCTTTA AAGACCCTATCTCTCAAGACAGTTACATTCTGAGAGTTAGGACTTCAACA TATGCATTTGTTGGGGGGGTGGGGGACACAAGTGGCCATAGCATTGGGCT AAGATCCTGGGAAGTTAAGAAAGATCACTCAGTTCTTCCCTGGTGTAACA GGCGGACTAGGCCCAGTGAGGATGAATGCTGGGAGAGGGAGGCCAAGCTG TTAACTTTAAAAGTGTGCTCTGGGGGCCGAGCGCGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAGGAGGTTAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTGAAAACAG AAAAACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACGGAGTGA GACTCCCATCTCAGAAAAAAAAAAAAAAAAAGTGTGCCCCACAACCCAAA ACTGCCTGTTTTGTTTGTTTGTTTTTTGCTTGTTTGTTTTGTTTTTTGAG ACAGAGTCTCACTCCGTCGCCTAGGTTGGAGTGCAATGGTACAATATCGG CTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCC TCCTGAGTAGCTGGGATTACAGGCGCACACCACCAAGCCCGGCTAATTTT TGTATTTTTAGTAGAGTCAGGGTTTCACCATGTTGGTCAGGCTGGTATCA AACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3618666	G G	GGGTGGCT others(884): Show GGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAG ATCACGAGGTCAGGAGTTTGATACCAGCCTGACCAACATGGTGAAACCCT GACTCTACTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGCGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGATATTGTACCATTGCACTCCAACCTAGGC GACGGAGTGAGACTCTGTCTCAAAAAACAAAACAAACAAGCAAAAAACAA ACAAACAAAACAGGCAGTTTTGGGTTGTGGGGCACACTTTTTTTTTTTTT TTTTCTGAGATGGGAGTCTCACTCCGTCACCCAGGCTGGAGCGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCAAGCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCC AGCTAATTTTTTGTTTTTCTGTTTTCAGTACAGACAGGGTTTCACCGTGT TAGCCAGGATGGTCTTGATCTCCTAACCTCCTGATCTGCTCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCTCGGCCCCCAGA GCACACTTTTAAAGTTAACAGCTTGGCCTCCCTCTCCCAGCATTCATCCT CACTGGGCCTAGTCCGCCTGTTACAGCAGGGAAGAACTGAGTGATCTTTC TTAACTTCCCAGGATCTTAGCCCAATGCTATGGCCACTTGTGTCCCCCAC CCCCCCAACAAATGCATATGTTGAAGTCCTAACTCTCAGAATGTAACTGT CTTGAGAGATAGGGTCTTTAAAGAGATGATTAGGCCAGGGGT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0072 a0001c0002t0016g0072	1	80	0.0125	891	c.159 others(912): Show c.1592-36419_1592-36418insACCCCTGGCCTAATCATCTCTTTA AAGACCCTATCTCTCAAGACAGTTACATTCTGAGAGTTAGGACTTCAACA TATGCATTTGTTGGGGGGGTGGGGGACACAAGTGGCCATAGCATTGGGCT AAGATCCTGGGAAGTTAAGAAAGATCACTCAGTTCTTCCCTGCTGTAACA GGCGGACTAGGCCCAGTGAGGATGAATGCTGGGAGAGGGAGGCCAAGCTG TTAACTTTAAAAGTGTGCTCTGGGGGCCGAGCGCGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAGGAGGTTAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTGAAAACAG AAAAACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACGGAGTGA GACTCCCATCTCAGAAAAAAAAAAAAAAAAAGTGTGCCCCACAACCCAAA ACTGCCTGTTTTGTTTGTTTGTTTTTTGCTTGTTTGTTTTGTTTTTTGAG ACAGAGTCTCACTCCGTCGCCTAGGTTGGAGTGCAATGGTACAATATCGG CTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCC TCCTGAGTAGCTGGGATTACAGGCGCACACCACCAAGCCCGGCTAATTTT TGTATTTTTAGTAGAGTCAGGGTTTCACCATGTTGGTCAGGCTGGTATCA AACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3618666	G G	GGGTGGCT others(884): Show GGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAG ATCACGAGGTCAGGAGTTTGATACCAGCCTGACCAACATGGTGAAACCCT GACTCTGCTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGCGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGATATTGTACCATTGCACTCCAACCTAGGC GACGGAGTGAGACTCTGTCTCAAAAAACAAAACAAACAAGCAAAAAACAA ACAAACAAAACAGGCAGTTTTGGGTTGTGGGGCACACTTTTTTTTTTTTT TTTTCTGAGATGGGAGTCTCACTCCGTCACCCAGGCTGGAGCGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCAAGCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCC AGCTAATTTTTTGTTTTTCTGTTTTCAGTACAGACAGGGTTTCACCGTGT TAGCCAGGATGGTCTTGATCTCCTAACCTCCTGATCTGCTCACCTCGGCC TCCCAAAGGGCTGGGATTACAGGCATGAGCCACCGCGCTCGGCCCCCAGA GCACACTTTTAAAGTTAACAGCTGGGCCTCCCTCTCCCAGCATTCATCCT CACTGGGCCTAGTCTACCTGTTACACCAGGGAAGAACTGAGTGATCTTTC TTAACTTCCCAGGATCTTAGCCCAATGCTATGGCCACTTGTGTCCCCCGA CCCCCCAACAAATGCATATGTTGAAGTCCTAACTCTCAGAATGTAACTGT CTTGAGAGATAGGGTCTTTAAAGAGATGATTAGGCCAGGGGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	80	0.0125	891	c.159 others(912): Show c.1592-36419_1592-36418insACCCCTGGCCTAATCATCTCTTTA AAGACCCTATCTCTCAAGACAGTTACATTCTGAGAGTTAGGACTTCAACA TATGCATTTGTTGGGGGGTCGGGGGACACAAGTGGCCATAGCATTGGGCT AAGATCCTGGGAAGTTAAGAAAGATCACTCAGTTCTTCCCTGGTGTAACA GGTAGACTAGGCCCAGTGAGGATGAATGCTGGGAGAGGGAGGCCCAGCTG TTAACTTTAAAAGTGTGCTCTGGGGGCCGAGCGCGGTGGCTCATGCCTGT AATCCCAGCCCTTTGGGAGGCCGAGGTGAGCAGATCAGGAGGTTAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTGAAAACAG AAAAACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACGGAGTGA GACTCCCATCTCAGAAAAAAAAAAAAAAAAAGTGTGCCCCACAACCCAAA ACTGCCTGTTTTGTTTGTTTGTTTTTTGCTTGTTTGTTTTGTTTTTTGAG ACAGAGTCTCACTCCGTCGCCTAGGTTGGAGTGCAATGGTACAATATCGG CTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCC TCCTGAGTAGCTGGGATTACAGGCGCACACCACCAAGCCCGGCTAATTTT TGTATTTTTAGCAGAGTCAGGGTTTCACCATGTTGGTCAGGCTGGTATCA AACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar

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Search Results (Total: 7053 hits)