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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2011): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACC CAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAACCTCT GCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGGG ATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGA GACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAA GTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGC CACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCA GTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCA CTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAG CCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCA AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCC AGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAG GCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGG TTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCC ACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCA CCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACG TGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGT TTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGG CTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGC TCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACC TCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCT GGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTA GTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCA GAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGT CCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCA ACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGT AGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATG CCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAA AAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAATC TGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGAG ATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCTC TCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACC TCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGCT GGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTAGC AGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCCT CAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20300.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0002g0105 a0001c0007t0001g0106 a0001c0001t0002g0105 a0001c0007t0001g0106	2	159	0.0126	2018	c.-90 others(2033): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCCA GGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAACCTCTGC CTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGGGAT TAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGAGA CGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAAGT GATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCA CTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGT CTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCACT CTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCC TCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCAG GTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGGC ACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTT TCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCAC CTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCACC CGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGTG TAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTTT CATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGCT CAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTC TGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACCTC CGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCTGG GACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGT AAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAG CCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCAGA GGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGTCC GAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAC ATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGTAG TGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGA GAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATGCC ACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAAAA AAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAATCTG TTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGAGAT ATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCTCTC TGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTC CGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGCTGG GATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTAGCAG AGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCCTCA GGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2011): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAACCTC TGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGG GATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAG AGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTA AGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAG CCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCA GTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCA CTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAG CCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCC AAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACC CAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACA GGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGG GTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATC CACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGC ACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATAC GTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGG TTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTG GCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGC TCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACC TCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCT GGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTA GTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCA GAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGT CCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCA ACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGT AGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATG CCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAA AAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAATC TGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGAG ATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCTC TCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACC TCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGCT GGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTAGC AGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCCT CAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0136 a0001c0005t0005g0136	1	159	0.0063	2018	c.-90 others(2033): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCC AGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAACCTCTG CCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGGGA TTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGAG ACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAAG TGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCC ACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGT CTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCACT CTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCC TCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCA GGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGG CACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGT TTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCA CCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCAC CCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGT GTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTT TCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGC TCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTC TGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACCTC CGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCTGG GACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGT AAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAG CCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCAGA GGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGTCC GAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAC ATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGTAG TGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGA GAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATGCC ACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAAAA AAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAATCTG TTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGAGAT ATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCTCTC TGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTC CGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGCTGG GATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTAGCAG AGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCCTCA GGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2011): Show CGGCCTCCCAAAGTGCTGGGCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTC TGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGG GATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAG AGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTA AGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAG CCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCC AGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTC ACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCA GCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCAT TTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCA GGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGG CACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGT TTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCA CCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCAC CCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGT GTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTT TCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGC TCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGC TCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACC TCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCT GGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTA GTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCA GAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGT CCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCA ACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGT AGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATG CCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAA AAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAATC TGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGAG ATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCTC TCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACC TCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGCT GGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTAGC AGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCCT CAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0109 a0002c0004t0003g0109	1	159	0.0063	2018	c.-90 others(2033): Show c.-90-160_-90-159insCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTC TGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGG GATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAG AGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTA AGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAG CCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCC AGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTC ACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCA GCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCAT TTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCA GGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGG CACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGT TTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCA CCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCAC CCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGT GTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTT TCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGC TCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGC TCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACC TCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCT GGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTA GTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCA GAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGT CCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCA ACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGT AGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATG CCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAA AAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAATC TGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGAG ATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCTC TCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACC TCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGCT GGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTAGC AGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCCT CAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM120B_chr6_170301758_170412067	170399756	G G	GAAGGTAG others(2011): Show GAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAAC TATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAAGG TAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGT CATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGG GGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGGGGAAGGTAGAA CTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAA CTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGT GAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAG GTAGAACTACGTCATAAGCCTTAGGAGTGAGTTGGGAAGGTAGAACTATG TCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTT AGAAGTGAGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGG AAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAAC TATGTCATAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGA AGTGAGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAA GGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTAT GTCATAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCT TAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGT GGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCAT AACTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGT GAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAG GTAGAACTATGTCATAACTCTTAGTAGTGAGTGGGGAAGGTAGAACTATG TCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACCCTT AGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTG AGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATA ACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGGAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGG GGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAA CTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAA CCCTTAGGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	289	0.0035	2018	c.269 others(2037): Show c.2692+4236_2692+4237insCCCTTAGGAGTGAGTGGGGAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGA GTGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGA AGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTA TGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTC TTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAG TGGGGAAGGTAGAACTATGTCTTAACTCTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGAGAAAGGTAGAACTACGTCATAAGCCTTAGGAGTGAGTTGGG AAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACT ATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTATGTCATAACT TAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGT GAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAAGGTAG AACTATGTCATAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCAT AACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGA GTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAA AGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGGAAGGTAGAACTATG TCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTATGTCATAACTTAG GAGTGAGTGGGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAG AAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAAGGTAGAAC TATGTCATAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGG TAGAACTATGTCATAACTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCA TAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGTAGTGAGTGGGG AAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACT ATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACT CTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGA GTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGT AGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTC ATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTTAGGA GTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAA AGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTA TGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTC TTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAG TGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTA GAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCA TAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAA	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM163B_chr9_133572081_133614389	133588612	C C	CTGAAGGA others(2011): Show CTGAAGGATCTAGAATGCTGAAGGATCTAGTGTGTTGAGGGATCTAGCAT GCTGAAGGATCTAGCATGTTAAGGGATCTAGCATGTCGAGAGATCTAGCA TGCTGAAGGATCTAGCATGCTGAAGGATCTAGCATGTTGAGGGTTCTAGT GTGTTGAGAGATCAAGCACGTTGAGGGATCTAGCATGTTGAGAGATCTAG TGTGTTGAGGGATCTAGCGTGCTGAAGGATCTAGCATGTTGAGGGATCTA GGATGCTGAAGGATCTAGTGTGTTGAGGGATCTAGCATGTTGAAGGATCT AGTGCGTTAAGGGTCTAGCGTGTTGAGGGATCTAGCATGCCGAAAGATCT AGCAAGTTGAGAGATCTAGCATGCTGAAGGATCTAGCATGTTGAGGGATC TGGCATGCTGAAGGTTGTAGCACTAGCATGCTGAAAGATCTAGCATGCTG AAAGATCTAGCATGTTGAGGGATCTAGCAGGTTGAGGGATCTAGCAGGTT GAAGGATCTAGCATGCTGAGGGATCTGGCATGTTGAAGGATCTAGAATGT TGAAGGATCTAGCACATTAAGGGATCTAGCGTGTTGAGAGATCTAATGTG TTGAGGGATCTAGCATGTTAAGGGATCTAGCATGTTGAGGGATCTAGCAT GCTGAAAGATCTAGCATGTTGAGGGATCTAGCATGCTGAAGGATCTAGCA TGTTGAGGGATCTAGCGTGTTGAGAGTTCTAGCATGTTGAGGGATCTAGC ATGTTGAAGGATCTAGAGTGTTAAGGGTCTAGCGTGTTGAGGGATCTTGC ATGCTGAAAGATCTAGCATGTTGAGAGATCTAGCATACTGCAGGATCTAG CTTGTTGAGGGATCTAGCATATTGAGAGATCTAGTGTGTTGAGGGATCTA GCATGCTGAGGGATCTAGCATGTTGAAGGACCTAGCATTTTGAAGGATCT AGCATGTTGAGGGTCTAGCATGTGGAGAGATCTAGTGTGTTTAGGGATCT AGCATGCTGAATGATCTAGCATTAGCATGTTGAAGGATCTAGTATGTTGA GGGATCTGGCATTTGAAGGATCTAGCATGTTGAGGGATCTAGCATGTTGA AGGATCTAGCATGTTGAAGGATCCAGCACTAGCATGCTGAAAGATTTAGA AGGTTGAAGGATGTAGCATGCTGAGGGATCTAGTGTGCTGAAGGATCTAG CATGTTGAAAGATCTAGCATGTTGAAGGATCTAGCATGTTGAGGGTCTAG CATGTGGGGAGATCTAGCGTGTTTAGGGATCTAGCATGTTGACAGATCTA GCATGTTGAAGGATCTAGCATGTTGAGGGATCTAGCAGGTTGAAGGATCG AGCATGCTGAGGGATCTAGCATGTTGATGGATCTAGCATACGGAAGGATC TAGTATGTTGAGGGATCTAGCATGTTGAGAGATCTAGTGTGTTGAGGGAT GTAGCATGCTGAAGGATCTAGCATGTTGAAGGATCTAGCATATTGAGAGA TCTAGCATGTTGAGGGATCTAGGATGCTGAAGGATCTAGTGTGTTGAGGG ATCTAGCATGTTGAAGGATCTAGGGTGTTAAGGGTCTAGCAGGTTGAGGG ATCTTGCATGCTGAAAGATCTAGCATGTTGAGAGATCTAGCATGCTGCAG GATCTAGCTTTTTGAGGGATCTAGCATGTTGAGAGATCTAGTGTGTTGAT GGATCTAGCATGTTGAGGGATCTAGCATGTTGAGAGATCTAGCGTGTTGA GGGATCTAGCATGCCGAAGGATCTAACATGTTGAGAGATCTAACGTGTTA AGGGATCTAGCATGCCGAAGGATCTAGCATGTTGAGGGATCTAGCATGTT GAGAGATCTAGTGTGTTGAGGGGTCTAGGATGCTGAAGGATCTAGCATGC TGAGATATCTAGCATGTTGAGAGATCTAGCGTGTTGAGGGATCTAGCATC CTGAGGGATCTAGCATGTCGATGGATCTAGCATGTTGAAGGATCTAGTGT GTTGAGGGATCTAGCATGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01361.hp2 HG01516.hp1 others(14): Show HG00099.hp1 HG01361.hp2 HG01516.hp1 HG01891.hp2 HG01943.hp1 HG02145.hp1 HG02572.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0029	a0001c0001t0001g0114 a0001c0001t0002g0130 a0001c0001t0006g0003 others(10): Show a0001c0001t0001g0114 a0001c0001t0002g0130 a0001c0001t0006g0003 a0001c0001t0006g0031 a0001c0001t0006g0068 a0001c0001t0006g0095 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0126 a0001c0001t0006g0134 a0001c0001t0029g0125	17	382	0.0445	2018	c.-23 others(2035): Show c.-23-8367_-23-8366insACATGCTAGATCCCTCAACACACTAGAT CCTTCAACATGCTAGATCCATCGACATGCTAGATCCCTCAGGATGCTAGA TCCCTCAACACGCTAGATCTCTCAACATGCTAGATATCTCAGCATGCTAG ATCCTTCAGCATCCTAGACCCCTCAACACACTAGATCTCTCAACATGCTA GATCCCTCAACATGCTAGATCCTTCGGCATGCTAGATCCCTTAACACGTT AGATCTCTCAACATGTTAGATCCTTCGGCATGCTAGATCCCTCAACACGC TAGATCTCTCAACATGCTAGATCCCTCAACATGCTAGATCCATCAACACA CTAGATCTCTCAACATGCTAGATCCCTCAAAAAGCTAGATCCTGCAGCAT GCTAGATCTCTCAACATGCTAGATCTTTCAGCATGCAAGATCCCTCAACC TGCTAGACCCTTAACACCCTAGATCCTTCAACATGCTAGATCCCTCAACA CACTAGATCCTTCAGCATCCTAGATCCCTCAACATGCTAGATCTCTCAAT ATGCTAGATCCTTCAACATGCTAGATCCTTCAGCATGCTACATCCCTCAA CACACTAGATCTCTCAACATGCTAGATCCCTCAACATACTAGATCCTTCC GTATGCTAGATCCATCAACATGCTAGATCCCTCAGCATGCTCGATCCTTC AACCTGCTAGATCCCTCAACATGCTAGATCCTTCAACATGCTAGATCTGT CAACATGCTAGATCCCTAAACACGCTAGATCTCCCCACATGCTAGACCCT CAACATGCTAGATCCTTCAACATGCTAGATCTTTCAACATGCTAGATCCT TCAGCACACTAGATCCCTCAGCATGCTACATCCTTCAACCTTCTAAATCT TTCAGCATGCTAGTGCTGGATCCTTCAACATGCTAGATCCTTCAACATGC TAGATCCCTCAACATGCTAGATCCTTCAAATGCCAGATCCCTCAACATAC TAGATCCTTCAACATGCTAATGCTAGATCATTCAGCATGCTAGATCCCTA AACACACTAGATCTCTCCACATGCTAGACCCTCAACATGCTAGATCCTTC AAAATGCTAGGTCCTTCAACATGCTAGATCCCTCAGCATGCTAGATCCCT CAACACACTAGATCTCTCAATATGCTAGATCCCTCAACAAGCTAGATCCT GCAGTATGCTAGATCTCTCAACATGCTAGATCTTTCAGCATGCAAGATCC CTCAACACGCTAGACCCTTAACACTCTAGATCCTTCAACATGCTAGATCC CTCAACATGCTAGAACTCTCAACACGCTAGATCCCTCAACATGCTAGATC CTTCAGCATGCTAGATCCCTCAACATGCTAGATCTTTCAGCATGCTAGAT CCCTCAACATGCTAGATCCCTTAACATGCTAGATCCCTCAACACATTAGA TCTCTCAACACGCTAGATCCCTTAATGTGCTAGATCCTTCAACATTCTAG ATCCTTCAACATGCCAGATCCCTCAGCATGCTAGATCCTTCAACCTGCTA GATCCCTCAACCTGCTAGATCCCTCAACATGCTAGATCTTTCAGCATGCT AGATCTTTCAGCATGCTAGTGCTACAACCTTCAGCATGCCAGATCCCTCA ACATGCTAGATCCTTCAGCATGCTAGATCTCTCAACTTGCTAGATCTTTC GGCATGCTAGATCCCTCAACACGCTAGACCCTTAACGCACTAGATCCTTC AACATGCTAGATCCCTCAACACACTAGATCCTTCAGCATCCTAGATCCCT CAACATGCTAGATCCTTCAGCACGCTAGATCCCTCAACACACTAGATCTC TCAACATGCTAGATCCCTCAACGTGCTTGATCTCTCAACACACTAGAACC CTCAACATGCTAGATCCTTCAGCATGCTAGATCCTTCAGCATGCTAGATC TCTCGACATGCTAGATCCCTTAACATGCTAGATCCTTCAGCATGCTAGAT CCCTCAACACACTAGATCCTTCAGCATTCTAGATCCTTCA	FAM163B	ENSG00000196990.10	transcript	ENST00000673969.1	protein_coding	1/2			chr9	TogoVar
FAM163B_chr9_133572081_133614389	133588612	C C	CTGAAGGA others(2011): Show CTGAAGGATCTAGAATGCTGAAGGATCTAGTGTGTTGAGGGATCTAGCAT GCTGAAGGATCTAGCATGTTAAGGGATCTAGCATGTCGAGAGATCTAGCA TGCTGAAGGATCTAGCATGCTGAAGGATCTAGCATGTTGAGGGTTCTAGT GTGTTGAGAGATCAAGCACGTTGAGGGATCTAGCATGTTGAGAGATCTAG TGTGTTGAGGGATCTAGCGTGCTGAAGGATCTAGCATGTTGAGGGATCTA GGATGCTGAAGGATCTAGTGTGTTGAGGGATCTAGCATGTTGAAGGATCT AGTGTGTTAAGGGTCTAGCGTGTTGAGGGATCTAGCATGCCGAAAGATCT AGCAAGTTGAGAGATCTAGCATGCTGAAGGATCTAGCATGTTGAGGGATC TGGCATGCTGAAGGTTGTAGCACTAGCATGCTGAAAGATCTAGCATGCTG AAAGATCTAGCATGTTGAGGGATCTAGCAGGTTGAGGGATCTAGCAGGTT GAAGGATCTAGCATGCTGAGGGATCTAGAATGTTGAAGGATCTAGAATGT TGAAGGATCTAGCACGTTAAGGGATCTAGCGTGTTGAGAGATCTAATGTG TTGAGGGATCTAGCATGTTAAGGGATCTAGCATGTTGAGGGATCTAGCAT GCTGAAAGATCTAGCATGTTGAGGGATCTAGCATGCTGAAGGATCTAGCA TGTTGAGGGATCTAGCGTGTTGAGAGTTCTAGCATGTTGAGGGATCTAGC ATGTTGAAGGATCTAGAGTGTTAAGGGTCTAGCGTGTTGAGGGATCTTGC ATGCTGAAAGATCTAGCATGTTGAGAGATCTAGCATACTGCAGGATCTAG CTTGTTGAGGGATCTAGCATATTGAGAGATCTAGTGTGTTGAGGGATCTA GCATGCTGAGGGATCTAGCATGTTGAAGGACCTAGCATTTTGAAGGATCT AGCATGTTGAGGGTCTAGCATGTGGAGAGATCTAGTGTGTTTAGGGATCT AGCATGCTGAATGATCTAGCATTAGCATGTTGAAGGATCTAGTATGTTGA GGGATCTGGCATTTGAAGGATCTAGCATGTTGAGGGATCTAGCATGTTGA AGGATCTAGCATGTTGAAGGATCCAGCACTAGCATGCTGAAAGATTTAGA AGGTTGAAGGATGTAGCATGCTGAGGGATCTAGTGTGCTGAAGGATCTAG CATGTTGAAAGATCTAGCATGTTGAAGGATCTAGCATGTTGAGGGTCTAG CATGTGGGGAGATCTAGCGTGTTTAGGGATCTAGCATGTTGACAGATCTA GCATGTTGAAGGATCTAGCATGTTGAGGGATCTAGCAGGTTGAAGGATCG AGCATGCTGAGGGATCTAGCATGTTGATGGATCTAGCATACGGAAGGATC TAGTATGTTGAGGGATCTAGCATGTTGAGAGATCTAGTGTGTTGAGGGAT GTAGCATGCTGAAGGATCTAGCATGTTGAAGGATCTAGCATATTGAGAGA TCTAGCATGTTGAGGGATCTAGGATGCTGAAGGATCTAGTGTGTTGAGGG ATCTAGCATGTTGAAGGATCTAGGGTGTTAAGGGTCTAGCAGGTTGAGGG ATCTTGCATGCTGAAAGATCTAGCATGTTGAGAGATCTAGCATGCTGCAG GATCTAGCTTTTTGAGGGATCTAGCATGTTGAGAGATCTAGTGTGTTGAT GGATCTAGCATGTTGAGGGATCTAGCATGTTGAGAGATCTAGCGTGTTGA GGGATCTAGCATGCCGAAGGATCTAACATGTTGAGAGATCTAACGTGTTA AGGGATCTAGCATGCCGAAGGATCTAGCATGTTGAGGGATCTAGCATGTT GAGAGATCTAGTGTGTTGAGGGGTCTAGGATGCTGAAGGATCTAGCATGC TGAGATATCTAGCATGTTGAGAGATCTAGCGTGTTGAGGGATCTAGCATC CTGAGGGATCTAGCATGTCGATGGATCTAGCATGTTGAAGGATCTAGTGT GTTGAGGGATCTAGCATGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	382	0.0026	2018	c.-23 others(2035): Show c.-23-8367_-23-8366insACATGCTAGATCCCTCAACACACTAGAT CCTTCAACATGCTAGATCCATCGACATGCTAGATCCCTCAGGATGCTAGA TCCCTCAACACGCTAGATCTCTCAACATGCTAGATATCTCAGCATGCTAG ATCCTTCAGCATCCTAGACCCCTCAACACACTAGATCTCTCAACATGCTA GATCCCTCAACATGCTAGATCCTTCGGCATGCTAGATCCCTTAACACGTT AGATCTCTCAACATGTTAGATCCTTCGGCATGCTAGATCCCTCAACACGC TAGATCTCTCAACATGCTAGATCCCTCAACATGCTAGATCCATCAACACA CTAGATCTCTCAACATGCTAGATCCCTCAAAAAGCTAGATCCTGCAGCAT GCTAGATCTCTCAACATGCTAGATCTTTCAGCATGCAAGATCCCTCAACC TGCTAGACCCTTAACACCCTAGATCCTTCAACATGCTAGATCCCTCAACA CACTAGATCCTTCAGCATCCTAGATCCCTCAACATGCTAGATCTCTCAAT ATGCTAGATCCTTCAACATGCTAGATCCTTCAGCATGCTACATCCCTCAA CACACTAGATCTCTCAACATGCTAGATCCCTCAACATACTAGATCCTTCC GTATGCTAGATCCATCAACATGCTAGATCCCTCAGCATGCTCGATCCTTC AACCTGCTAGATCCCTCAACATGCTAGATCCTTCAACATGCTAGATCTGT CAACATGCTAGATCCCTAAACACGCTAGATCTCCCCACATGCTAGACCCT CAACATGCTAGATCCTTCAACATGCTAGATCTTTCAACATGCTAGATCCT TCAGCACACTAGATCCCTCAGCATGCTACATCCTTCAACCTTCTAAATCT TTCAGCATGCTAGTGCTGGATCCTTCAACATGCTAGATCCTTCAACATGC TAGATCCCTCAACATGCTAGATCCTTCAAATGCCAGATCCCTCAACATAC TAGATCCTTCAACATGCTAATGCTAGATCATTCAGCATGCTAGATCCCTA AACACACTAGATCTCTCCACATGCTAGACCCTCAACATGCTAGATCCTTC AAAATGCTAGGTCCTTCAACATGCTAGATCCCTCAGCATGCTAGATCCCT CAACACACTAGATCTCTCAATATGCTAGATCCCTCAACAAGCTAGATCCT GCAGTATGCTAGATCTCTCAACATGCTAGATCTTTCAGCATGCAAGATCC CTCAACACGCTAGACCCTTAACACTCTAGATCCTTCAACATGCTAGATCC CTCAACATGCTAGAACTCTCAACACGCTAGATCCCTCAACATGCTAGATC CTTCAGCATGCTAGATCCCTCAACATGCTAGATCTTTCAGCATGCTAGAT CCCTCAACATGCTAGATCCCTTAACATGCTAGATCCCTCAACACATTAGA TCTCTCAACACGCTAGATCCCTTAACGTGCTAGATCCTTCAACATTCTAG ATCCTTCAACATTCTAGATCCCTCAGCATGCTAGATCCTTCAACCTGCTA GATCCCTCAACCTGCTAGATCCCTCAACATGCTAGATCTTTCAGCATGCT AGATCTTTCAGCATGCTAGTGCTACAACCTTCAGCATGCCAGATCCCTCA ACATGCTAGATCCTTCAGCATGCTAGATCTCTCAACTTGCTAGATCTTTC GGCATGCTAGATCCCTCAACACGCTAGACCCTTAACACACTAGATCCTTC AACATGCTAGATCCCTCAACACACTAGATCCTTCAGCATCCTAGATCCCT CAACATGCTAGATCCTTCAGCACGCTAGATCCCTCAACACACTAGATCTC TCAACATGCTAGATCCCTCAACGTGCTTGATCTCTCAACACACTAGAACC CTCAACATGCTAGATCCTTCAGCATGCTAGATCCTTCAGCATGCTAGATC TCTCGACATGCTAGATCCCTTAACATGCTAGATCCTTCAGCATGCTAGAT CCCTCAACACACTAGATCCTTCAGCATTCTAGATCCTTCA	FAM163B	ENSG00000196990.10	transcript	ENST00000673969.1	protein_coding	1/2			chr9	TogoVar
FAM163B_chr9_133572081_133614389	133588612	C C	CTGAAGGA others(2011): Show CTGAAGGATCTAGAATGCTGAAGGATCTAGTGTGTTGAGGGATCTAGCAT GCTGAAGGATCTAGCATGTTAAGGGATCTAGCATGTCGAGAGATCTAGCA TGCTGAAGGATCTAGCATGCTGAAGGATCTAGCATGTTGAGGGTTCTAGT GTGTTGAGAGATCAAGCACGTTGAGGGATCTAGCATGTTGAGAGATCTAG TGTGTTGAGGGATCTAGCGTGCTGAAGGATCTAGCATGTTGAGGGATCTA GGATGCTGAAGGATCTAGTGTGTTGAGGGATCTAGCATGTTGAAGGATCT AGTGTGTTAAGGGTCTAGCGTGTTGAGGGATCTAGCATGCCGAAAGATCT AGCAAGTTGAGAGATCTAGCATGCTGAAGGATCTAGCATGTTGAGGGATC TGGCATGCTGAAGGTTGTAGCACTAGCATGCTGAAAGATCTAGCATGCTG AAAGATCTAGCATGTTGAGGGATCTAGCAGGTTGAGGGATCTAGCAGGTT GAAGGATCTAGCATGCTGAGGGATCTGGCATGTTGAAGGATCTAGAATGT TGAAGGATCTAGCACGTTAAGGGATCTAGCGTGTTGAGAGATCTAATGTG TTGAGGGATCTAGCATGTTAAGGGATCTAGCATGTTGAGGGATCTAGCAT GCTGAAAGATCTAGCATGTTGAGGGATCTAGCATGCTGAAGGATCTAGCA TGTTGAGGGATCTAGCGTGTTGAGAGTTCTAGCATGTTGAGGGATCTAGC ATGTTGAAGGATCTAGAGTGTTAAGGGTCTAGCGTGTTGAGGGATCTTGC ATGCTGAAAGATCTAGCATGTTGAGAGATCTAGCATACTGCAGGATCTAG CTTGTTGAGGGATCTAGCATATTGAGAGATCTAGTGTGTTGAGGGATCTA GCATGCTGAGGGATCTAGCATGTTGAAGGACCTAGCATTTTGAAGGATCT AGCATGTTGAGGGTCTAGCATGTGGAGAGATCTAGTGTGTTTAGGGATCT AGCATGCTGAATGATCTAGCATTAGCATGTTGAAGGATCTAGTATGTTGA GGGATCTGGCATTTGAAGGATCTAGCATGTTGAGGGATCTAGCATGTTGA AGGATCTAGCATGTTGAAGGATCCAGCACTAGCATGCTGAAAGATTTAGA AGGTTGAAGGATGTAGCATGCTGAGGGATCTAGTGTGCTGAAGGATCTAG CATGTTGAAAGATCTAGCATGTTGAAGGATCTAGCATGTTGAGGGTCTAG CATGTGGGGAGATCTAGCGTGTTTAGGGATCTAGCATGTTGACAGATCTA GCATGTTGAAGGATCTAGCATGTTGAGGGATCTAGCAGGTTGAAGGATCG AGCATGCTGAGGGATCTAGCATGTTGATGGATCTAGCATACGGAAGGATC TAGTATGTTGAGGGATCTAGCATGTTGAGAGATCTAGTGTGTTGAGGGAT GTAGCATGCTGAAGGATCTAGCATGTTGAAGGATCTAGCATATTGAGAGA TCTAGCATGTTGAGGGATCTAGGATGCTGAAGGATCTAGTGTGTTGAGGG ATCTAGCATGTTGAAGGATCTAGGGTGTTAAGGGTCTAGCAGGTTGAGGG ATCTTGCATGCTGAAAGATCTAGCATGTTGAGAGATCTAGCATGCTGCAG GATCTAGCTTTTTGAGGGATCTAGCATGTTGAGAGATCTAGTGTGTTGAT GGATCTAGCATGTTGAGGGATCTAGCATGTTGAGAGATCTAGCGTGTTGA GGGATCTAGCATGCCGAAGGATCTAACATGTTGAGAGATCTAACGTGTTA AGGGATCTAGCATGCCGAAGGATCTAGCATGTTGAGGGATCTAGCATGTT GAGAGATCTAGTGTGTTGAGGGGTCTAGGATGCTGAAGGATCTAGCATGC TGAGATATCTAGCATGTTGAGAGATCTAGCGTGTTGAGGGATCTAGCATC CTGAGGGATCTAGCATGTCGATGGATCTAGCATGTTGAAGGATCTAGTGT GTTGAGGGATCTAGCATGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00741.hp2 others(46): Show HG00140.hp1 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01243.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02602.hp2 HG02647.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03516.hp2 NA18522.hp2 NA18944.hp2 NA18950.hp1 NA18964.hp2 NA18977.hp1 NA19009.hp1 NA19064.hp1 NA19081.hp1 NA19240.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030 a0001c0006t0003 a0001c0011t0003	a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0003g0021 others(33): Show a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0051 a0001c0001t0003g0061 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0092 a0001c0001t0003g0102 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0122 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0287 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0295 a0001c0001t0007g0001 a0001c0001t0007g0276 a0001c0001t0007g0278 a0001c0001t0007g0286 a0001c0001t0007g0289 a0001c0001t0018g0056 a0001c0001t0022g0079 a0001c0001t0030g0297 a0001c0006t0003g0288 a0001c0011t0003g0296	49	382	0.1283	2018	c.-23 others(2035): Show c.-23-8367_-23-8366insACATGCTAGATCCCTCAACACACTAGAT CCTTCAACATGCTAGATCCATCGACATGCTAGATCCCTCAGGATGCTAGA TCCCTCAACACGCTAGATCTCTCAACATGCTAGATATCTCAGCATGCTAG ATCCTTCAGCATCCTAGACCCCTCAACACACTAGATCTCTCAACATGCTA GATCCCTCAACATGCTAGATCCTTCGGCATGCTAGATCCCTTAACACGTT AGATCTCTCAACATGTTAGATCCTTCGGCATGCTAGATCCCTCAACACGC TAGATCTCTCAACATGCTAGATCCCTCAACATGCTAGATCCATCAACACA CTAGATCTCTCAACATGCTAGATCCCTCAAAAAGCTAGATCCTGCAGCAT GCTAGATCTCTCAACATGCTAGATCTTTCAGCATGCAAGATCCCTCAACC TGCTAGACCCTTAACACCCTAGATCCTTCAACATGCTAGATCCCTCAACA CACTAGATCCTTCAGCATCCTAGATCCCTCAACATGCTAGATCTCTCAAT ATGCTAGATCCTTCAACATGCTAGATCCTTCAGCATGCTACATCCCTCAA CACACTAGATCTCTCAACATGCTAGATCCCTCAACATACTAGATCCTTCC GTATGCTAGATCCATCAACATGCTAGATCCCTCAGCATGCTCGATCCTTC AACCTGCTAGATCCCTCAACATGCTAGATCCTTCAACATGCTAGATCTGT CAACATGCTAGATCCCTAAACACGCTAGATCTCCCCACATGCTAGACCCT CAACATGCTAGATCCTTCAACATGCTAGATCTTTCAACATGCTAGATCCT TCAGCACACTAGATCCCTCAGCATGCTACATCCTTCAACCTTCTAAATCT TTCAGCATGCTAGTGCTGGATCCTTCAACATGCTAGATCCTTCAACATGC TAGATCCCTCAACATGCTAGATCCTTCAAATGCCAGATCCCTCAACATAC TAGATCCTTCAACATGCTAATGCTAGATCATTCAGCATGCTAGATCCCTA AACACACTAGATCTCTCCACATGCTAGACCCTCAACATGCTAGATCCTTC AAAATGCTAGGTCCTTCAACATGCTAGATCCCTCAGCATGCTAGATCCCT CAACACACTAGATCTCTCAATATGCTAGATCCCTCAACAAGCTAGATCCT GCAGTATGCTAGATCTCTCAACATGCTAGATCTTTCAGCATGCAAGATCC CTCAACACGCTAGACCCTTAACACTCTAGATCCTTCAACATGCTAGATCC CTCAACATGCTAGAACTCTCAACACGCTAGATCCCTCAACATGCTAGATC CTTCAGCATGCTAGATCCCTCAACATGCTAGATCTTTCAGCATGCTAGAT CCCTCAACATGCTAGATCCCTTAACATGCTAGATCCCTCAACACATTAGA TCTCTCAACACGCTAGATCCCTTAACGTGCTAGATCCTTCAACATTCTAG ATCCTTCAACATGCCAGATCCCTCAGCATGCTAGATCCTTCAACCTGCTA GATCCCTCAACCTGCTAGATCCCTCAACATGCTAGATCTTTCAGCATGCT AGATCTTTCAGCATGCTAGTGCTACAACCTTCAGCATGCCAGATCCCTCA ACATGCTAGATCCTTCAGCATGCTAGATCTCTCAACTTGCTAGATCTTTC GGCATGCTAGATCCCTCAACACGCTAGACCCTTAACACACTAGATCCTTC AACATGCTAGATCCCTCAACACACTAGATCCTTCAGCATCCTAGATCCCT CAACATGCTAGATCCTTCAGCACGCTAGATCCCTCAACACACTAGATCTC TCAACATGCTAGATCCCTCAACGTGCTTGATCTCTCAACACACTAGAACC CTCAACATGCTAGATCCTTCAGCATGCTAGATCCTTCAGCATGCTAGATC TCTCGACATGCTAGATCCCTTAACATGCTAGATCCTTCAGCATGCTAGAT CCCTCAACACACTAGATCCTTCAGCATTCTAGATCCTTCA	FAM163B	ENSG00000196990.10	transcript	ENST00000673969.1	protein_coding	1/2			chr9	TogoVar
FAM163B_chr9_133572081_133614389	133588612	C C	CTGAAGGA others(2011): Show CTGAAGGATCTAGAATGCTGAAGGATCTAGTGTGTTGAGGGATCTAGCAT GCTGAAGGATCTAGCATGTTAAGGGATCTAGCATGTCGAGAGATCTAGCA TGCTGAAGGATCTAGCATGCTGAAGGATCTAGCATGTTGAGGGTTCTAGT GTGTTGAGAGATCAAGCACGTTGAGGGATCTAGCATGTTGAGAGATCTAG TGTGTTGAGGGATCTAGCGTGCTGAAGGATCTAGCATGTTGAGGGATCTA GGATGCTGAAGGATCTAGTGTGTTGAGGGATCTAGCATGTTGAAGGATCT AGTGTGTTAAGGGTCTAGCGTGTTGAGGGATCTAGCATGCCGAAAGATCT AGCAAGTTGAGAGATCTAGCATGCTGAAGGATCTAGCATGTTGAGGGATC TGGCATGCTGAAGGTTGTAGCACTAGCATGCTGAAAGATCTAGCATGCTG AAAGATCTAGCATGTTGAGGGATCTAGCAGGTTGAGGGATCTAGCAGGTT GAAGGATCTAGCATGCTGAGGGATCTGGCATGTTGAAGGATCTAGAATGT TGAAGGATCTAGCACGTTAAGGGATCTAGCGTGTTGAGAGATCTAATGTG TTGAGGGATCTAGCATGTTAAGGGATCTAGCATGTTGAGGGATCTAGCAT GTTGAGAGATCTAGCATGTTGAGGGATCTAGCATGCTGAAGGATCTAGCA TGTTGAGGGATCTAGCGTGTTGAGAGTTCTAGCATGTTGAGGGATCTAGC ATGTTGAAGGATCTAGAGTGTTAAGGGTCTAGCGTGTTGAGGGATCTTGC ATGCTGAAAGATCTAGCATGTTGAGAGATCTAGCATACTGCAGGATCTAG CTTGTTGAGGGATCTAGCATATTGAGAGATCTAGTGTGTTGAGGGATCTA GCATGCTGAGGGATCTAGCATGTTGAAGGACCTAGCATTTTGAAGGATCT AGCATGTTGAGGGTCTAGCATGTGGAGAGATCTAGTGTGTTTAGGGATCT AGCATGCTGAATGATCTAGCATTAGCATGTTGAAGGATCTAGTATGTTGA GGGATCTGGCATTTGAAGGATCTAGCATGTTGAGGGATCTAGCATGTTGA AGGATCTAGCATGTTGAAGGATCCAGCACTAGCATGCTGAAAGATTTAGA AGGTTGAAGGATGTAGCATGCTGAGGGATCTAGTGTGCTGAAGGATCTAG CATGTTGAAAGATCTAGCATGTTGAAGGATCTAGCATGTTGAGGGTCTAG CATGTGGGGAGATCTAGCGTGTTTAGGGATCTAGCATGTTGACAGATCTA GCATGTTGAAGGATCTAGCATGTTGAGGGATCTAGCAGGTTGAAGGATCG AGCATGCTGAGGGATCTAGCATGTTGATGGATCTAGCATACGGAAGGATC TAGTATGTTGAGGGATCTAGCATGTTGAGAGATCTAGTGTGTTGAGGGAT GTAGCATGCTGAAGGATCTAGCATGTTGAAGGATCTAGCATATTGAGAGA TCTAGCATGTTGAGGGATCTAGGATGCTGAAGGATCTAGTGTGTTGAGGG ATCTAGCATGTTGAAGGATCTAGGGTGTTAAGGGTCTAGCAGGTTGAGGG ATCTTGCATGCTGAAAGATCTAGCATGTTGAGAGATCTAGCATGCTGCAG GATCTAGCTTTTTGAGGGATCTAGCATGTTGAGAGATCTAGTGTGTTGAT GGATCTAGCATGTTGAGGGATCTAGCATGTTGAGAGATCTAGCGTGTTGA GGGATCTAGCATGCCGAAGGATCTAACATGTTGAGAGATCTAACGTGTTA AGGGATCTAGCATGCCGAAGGATCTAGCATGTTGAGGGATCTAGCATGTT GAGAGATCTAGTGTGTTGAGGGGTCTAGGATGCTGAAGGATCTAGCATGC TGAGATATCTAGCATGTTGAGAGATCTAGCGTGTTGAGGGATCTAGCATC CTGAGGGATCTAGCATGTCGATGGATCTAGCATGTTGAAGGATCTAGTGT GTTGAGGGATCTAGCATGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	382	0.0026	2018	c.-23 others(2035): Show c.-23-8367_-23-8366insACATGCTAGATCCCTCAACACACTAGAT CCTTCAACATGCTAGATCCATCGACATGCTAGATCCCTCAGGATGCTAGA TCCCTCAACACGCTAGATCTCTCAACATGCTAGATATCTCAGCATGCTAG ATCCTTCAGCATCCTAGACCCCTCAACACACTAGATCTCTCAACATGCTA GATCCCTCAACATGCTAGATCCTTCGGCATGCTAGATCCCTTAACACGTT AGATCTCTCAACATGTTAGATCCTTCGGCATGCTAGATCCCTCAACACGC TAGATCTCTCAACATGCTAGATCCCTCAACATGCTAGATCCATCAACACA CTAGATCTCTCAACATGCTAGATCCCTCAAAAAGCTAGATCCTGCAGCAT GCTAGATCTCTCAACATGCTAGATCTTTCAGCATGCAAGATCCCTCAACC TGCTAGACCCTTAACACCCTAGATCCTTCAACATGCTAGATCCCTCAACA CACTAGATCCTTCAGCATCCTAGATCCCTCAACATGCTAGATCTCTCAAT ATGCTAGATCCTTCAACATGCTAGATCCTTCAGCATGCTACATCCCTCAA CACACTAGATCTCTCAACATGCTAGATCCCTCAACATACTAGATCCTTCC GTATGCTAGATCCATCAACATGCTAGATCCCTCAGCATGCTCGATCCTTC AACCTGCTAGATCCCTCAACATGCTAGATCCTTCAACATGCTAGATCTGT CAACATGCTAGATCCCTAAACACGCTAGATCTCCCCACATGCTAGACCCT CAACATGCTAGATCCTTCAACATGCTAGATCTTTCAACATGCTAGATCCT TCAGCACACTAGATCCCTCAGCATGCTACATCCTTCAACCTTCTAAATCT TTCAGCATGCTAGTGCTGGATCCTTCAACATGCTAGATCCTTCAACATGC TAGATCCCTCAACATGCTAGATCCTTCAAATGCCAGATCCCTCAACATAC TAGATCCTTCAACATGCTAATGCTAGATCATTCAGCATGCTAGATCCCTA AACACACTAGATCTCTCCACATGCTAGACCCTCAACATGCTAGATCCTTC AAAATGCTAGGTCCTTCAACATGCTAGATCCCTCAGCATGCTAGATCCCT CAACACACTAGATCTCTCAATATGCTAGATCCCTCAACAAGCTAGATCCT GCAGTATGCTAGATCTCTCAACATGCTAGATCTTTCAGCATGCAAGATCC CTCAACACGCTAGACCCTTAACACTCTAGATCCTTCAACATGCTAGATCC CTCAACATGCTAGAACTCTCAACACGCTAGATCCCTCAACATGCTAGATC CTTCAGCATGCTAGATCCCTCAACATGCTAGATCTCTCAACATGCTAGAT CCCTCAACATGCTAGATCCCTTAACATGCTAGATCCCTCAACACATTAGA TCTCTCAACACGCTAGATCCCTTAACGTGCTAGATCCTTCAACATTCTAG ATCCTTCAACATGCCAGATCCCTCAGCATGCTAGATCCTTCAACCTGCTA GATCCCTCAACCTGCTAGATCCCTCAACATGCTAGATCTTTCAGCATGCT AGATCTTTCAGCATGCTAGTGCTACAACCTTCAGCATGCCAGATCCCTCA ACATGCTAGATCCTTCAGCATGCTAGATCTCTCAACTTGCTAGATCTTTC GGCATGCTAGATCCCTCAACACGCTAGACCCTTAACACACTAGATCCTTC AACATGCTAGATCCCTCAACACACTAGATCCTTCAGCATCCTAGATCCCT CAACATGCTAGATCCTTCAGCACGCTAGATCCCTCAACACACTAGATCTC TCAACATGCTAGATCCCTCAACGTGCTTGATCTCTCAACACACTAGAACC CTCAACATGCTAGATCCTTCAGCATGCTAGATCCTTCAGCATGCTAGATC TCTCGACATGCTAGATCCCTTAACATGCTAGATCCTTCAGCATGCTAGAT CCCTCAACACACTAGATCCTTCAGCATTCTAGATCCTTCA	FAM163B	ENSG00000196990.10	transcript	ENST00000673969.1	protein_coding	1/2			chr9	TogoVar
FOXRED1_chr11_126264154_126283126	126276308	T T	TGTGTGTG others(2011): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTGTATGGGGTTGG GGAGGGTGTGTGTGTGTGGTGTGTGTGTATGTATGGGTTGGGGAGAGTGT GTATGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGG GTTGGGGAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAGGGGGTGTG TGTGTGGTGTGTGTGTACGGTTGGGGAAAGTGTATGTGTGTGTGTGTGTG TGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGGTTGGGGAGAG TGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGGTGTG TGTGTAGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTG TGTATGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGGAGGGTGTGTG TGTGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTGTATGGGG TTGGGGAGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTGAGGAGGGTGT GTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGGGTTAGGGAGG GTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGT GTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGGGGTTGGGGAGGGGGT GTGTGTGTGTTTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGTATGGG GTTGGGGAGGGAGGGTGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTG TGTGTAGGGGGTTGGGGAGGGTGTGTGTGTGTGGGTATAGGGTTGGGAAG GGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTT GGGGATGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGT ATGGGGTTGGGGAGGGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGT GTGTGTGTGTGTGTGGACGGGGTTGGGGAGGGTTGCCGGCCATGCTGTTC CTGCAGTTCATAACTGCATTAGGGGTGTGTGTGTGTGCTGGGTTGGGTAG TGTATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCATGTGTATGGG GTTGGGGAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGGAAAGTGTATG TGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGT ATGTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGG TTGGGGAGGGTGTGTGTGTGTGTGCTGGGTTGGGGAGAGTGTATGTGGGG GGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGGGGTTGGGGAG GGTGTGTGTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGTGTGTGTATGG GGTTGGGGAGGTGTGTGTATGTATGTATGGGGTTGGGGAAGGTGTGTGTA TGGTGTGTGTGTGTATGGGATTGGGGAGGGGGTGTGTGTGTGTGTGTATG GGGTCAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGG TGTGGACAGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGG TGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGG AGGGTGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGGGGGTGGGA GGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTTG GGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGG GGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGGGAGGTGGACG GGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGTTGGGGAGGGT GTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGCGGG GTAGACAGGGTTGGGGAGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0169 a0002c0002t0002g0169	1	390	0.0026	2018	c.972 others(2031): Show c.972-79_972-78insTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTGT ATGGGGTTGGGGAGGGTGTGTGTGTGTGGTGTGTGTGTATGTATGGGTTG GGGAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTG TGTGTATGGGGTTGGGGAGAGTGTGTATGTGTGTGTGTATGGGGTTGGGG AGGGGGTGTGTGTGTGGTGTGTGTGTACGGTTGGGGAAAGTGTATGTGTG TGTGTGTGTGTGTATGGGGTTGGGGAAGGTGTGTGTGTGTGTGTATGGGG TTGGGGAGAGTGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGT GTGTGGTGTGTGTGTAGGGTTGGGGAGGGTGTGTGTGTGTATGGGGTTGG GGAGGGTGTGTGTATGGGGTTGAGGAGGGTGTGTGTGTATGGGGTCGGGG AGGGTGTGTGTGTGTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGT GTGTATGGGGTTGGGGAGAGTGGGGGTGTGTGTGTGTGTATGTGGGGTTG AGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGTGTGTGTGGG GTTAGGGAGGGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTATGGGGT TGGGGAGGGTGTGTATGTGTGTATGGGGTTGGGGAGGGTGTGTGGGGTTG GGGAGGGGGTGTGTGTGTGTTTATGGGGTTGGGGAGGGTGTGTGTGTGTG TGTGTATGGGGTTGGGGAGGGAGGGTGGGTGTGTGTGTGTGTATGGGGTT GGGGAGGGTGTGTGTAGGGGGTTGGGGAGGGTGTGTGTGTGTGGGTATAG GGTTGGGAAGGGTGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGT GTATGGGGTTGGGGATGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGT GTGTGTGTGTATGGGGTTGGGGAGGGGGTGTGTGTGTGTATGGGGTTGGG GAGGGTGTGTGTGTGTGTGTGTGTGGACGGGGTTGGGGAGGGTTGCCGGC CATGCTGTTCCTGCAGTTCATAACTGCATTAGGGGTGTGTGTGTGTGCTG GGTTGGGTAGTGTATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCA TGTGTATGGGGTTGGGGAGGGGGTGTGTGTGTGTGTGTGCTGGGTTGGGG AAAGTGTATGTGGGGGGGTTGGGGAGGGGGTGTGTGTGTGTGCTGGGTTG GGGAGAGTGTATGTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCAT GTGTATGGGGTTGGGGAGGGTGTGTGTGTGTGTGCTGGGTTGGGGAGAGT GTATGTGGGGGGGTTGGGGAGGGTGTGTGTGTGTGTGTGCATGTGTATGG GGTTGGGGAGGGTGTGTGTGTGTGTGGGGACGGGGTTGGGGTGGGTGTGT GTGTGTATGGGGTTGGGGAGGTGTGTGTATGTATGTATGGGGTTGGGGAA GGTGTGTGTATGGTGTGTGTGTGTATGGGATTGGGGAGGGGGTGTGTGTG TGTGTGTATGGGGTCAGGGAGGGTGTGTGTGTGGGGACAGGGTTGGGGAG GGTGTGTGGGTGTGGACAGGGTTGGGGAGGGTGTGTGTGTGTGTATGGGG TTGGGGAGGGTGTGTGTGTGTATGGGGTTGGGGAGGGTGTGTGTGTGTAT GGGGTTGGGGAGGGTGTGTGTGTGTGGGGACAGGGTTGGGGAGGGTGTGT GGGGGTGGGAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTG GACGGGGTTGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAG GGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTGG GAGGTGGACGGGGTTGGGGAGGGTGTGTGGGGGTCGGGGGTGGACGGGGT TGGGGAGGGTGTGTGGGGGTGGGGGTGGACGGGGTTGGGGAGGGTGTGTG GGGGTGCGGGGTAGACAGGGTTGGGGAGGGTGTGTG	FOXRED1	ENSG00000110074.12	transcript	ENST00000263578.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
MOGAT2_chr11_75712838_75737953	75731453	A A	ACTCTGGC others(2011): Show ACTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCTCTGCGAGCCTCC TGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAGGGCTGGAGGAGA ATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCACTCAAACATTATA AAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTTTTATTCCTCTGA CCTTGAGTGACAGAACAAAAGAAGCCACCAGCTCCAGTCCCTTCTCCTAC AAGACTCGTCATCTTGCACCCTGGATGTCCCAGGTCCTCCCTCTCCATGC TGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACCCTAGGTAGCTTC AAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGCCAGAGGCACACAGAA ACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCTATATGACTGTGG GCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCCCACTGATTCTGA GTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATAAGGTGCCTCTTA CTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAAAAAAGGGGGCTC CATAAATTCCAGTTCAACAAATGAGAGAATTATATTTTAGCATGCTTCTC TTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCCTTACCCTTGACC CCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAGAAGTTGAATGAG ACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTGATGCATCAACCC TAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGAAGCGGGGGTCAA TTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGAAACCAGATGTGA GATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAGAGGGGAAAGACG GGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGTTAAGGCCGTGCA TCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCAGGGTTTGTGACT CTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTGCCAGGAGGAGAT CACACCCATAACCACAACACGGGGCACTTAGAGAAGTGTACATTTGGGTT TCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCCTGGGCAAGCCAC ATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATACTATAGTATCCA CCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTATTCCATGTCCTT TGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAGGTGACAAAGTTG CCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTAGGCAGTATGATA TAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTTTAGAAAAGGGAG GGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTGACAAGTGGGCAA GACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAATAACGGCCCATA GTAATTACCTACTGCTATACAATGAACCACTTCAAAACTTAATGACTGGC CGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTGGGGGGCCAAGGTG GGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGAAACACGGTG AAACCCCGTCTCTACAAAAAGAGAAATACATACAAAAATTAGGCGGGTAT GGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGACTAAGGTGAGAGGA TTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCGAGATTGCGCCACT GTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTCAAAAACAACAACA ACAACAACAACAACAACAACCACCACAACTTAATGGTTGAAGAGCATGAG GATTTATTACTTCTCACAATTCTGTGGATTTTCTGGGTGGTTCTTCTTGG GTCTTGCAGCTGCATCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0030 a0002c0005t0030	a0002c0005t0030g0211 a0002c0005t0030g0211	1	418	0.0024	2018	c.16 others(2027): Show c.168_*169insTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCT CTGCGAGCCTCCTGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAG GGCTGGAGGAGAATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCAC TCAAACATTATAAAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTT TTATTCCTCTGACCTTGAGTGACAGAACAAAAGAAGCCACCAGCTCCAGT CCCTTCTCCTACAAGACTCGTCATCTTGCACCCTGGATGTCCCAGGTCCT CCCTCTCCATGCTGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACC CTAGGTAGCTTCAAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGCCAG AGGCACACAGAAACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCT ATATGACTGTGGGCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCC CACTGATTCTGAGTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATA AGGTGCCTCTTACTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAA AAAAGGGGGCTCCATAAATTCCAGTTCAACAAATGAGAGAATTATATTTT AGCATGCTTCTCTTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCC TTACCCTTGACCCCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAG AAGTTGAATGAGACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTG ATGCATCAACCCTAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGA AGCGGGGGTCAATTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGA AACCAGATGTGAGATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAG AGGGGAAAGACGGGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGT TAAGGCCGTGCATCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCA GGGTTTGTGACTCTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTG CCAGGAGGAGATCACACCCATAACCACAACACGGGGCACTTAGAGAAGTG TACATTTGGGTTTCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCC TGGGCAAGCCACATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATA CTATAGTATCCACCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTA TTCCATGTCCTTTGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAG GTGACAAAGTTGCCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTA GGCAGTATGATATAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTT TAGAAAAGGGAGGGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTG ACAAGTGGGCAAGACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAA TAACGGCCCATAGTAATTACCTACTGCTATACAATGAACCACTTCAAAAC TTAATGACTGGCCGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTGG GGGGCCAAGGTGGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCTG GGAAACACGGTGAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAAA TTAGGCGGGTATGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGACT AAGGTGAGAGGATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCGA GATTGCGCCACTGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTCA AAAACAACAACAACAACAACAACAACAACAACCACCACAACTTAATGGTT GAAGAGCATGAGGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGGT GGTTCTTCTTGGGTCTTGCAGCTGCATCCAGC	MOGAT2	ENSG00000166391.15	transcript	ENST00000198801.10	protein_coding	6/6	169	INFO_REALIGN_3_PRIME	chr11	TogoVar
PCCA_chr13_100084093_100535435	100451904	C C	CCTCTCTC others(2011): Show CCTCTCTCCTCTTCCTCTCCTCTCTCTCCTCTTCCTCTCCTCTCTCTCCT CTTCCTCTCCTCTCTCCTCTTCCTCTCCTCTCTCTCTCTCTCCTCTTCCT CTCTCTCTTCTTCCTCTCTCTGCTCTTCCTCTCCTCTCTCCTCTTCCTCT CCTCTCTCTCTTCTCTCCTCTCTTCTTCCTCTCTCTCTCCTCTCTGTCTC TCCTCTTCCTCTCGTCTCTCTCTTCTCTCCTCTTCTTCCTCTCTCTCCTC TTCCTCTCTCTCTTCTTCCTCTGTCTTCTCTTCCTCTCCTCTCTGTCTCT CTCCTCTTCCCCTCTTTCTCCTCTTCCCCTCTCTCTCTCCTCTTCCCCTC TCTCTCCTCTTGCCCCCCTCTCTCCTCTTCCTCTCTCCTTTTCCTCTCTC TCTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCCTTTTCCTCTCT CTCTCTCCTATTCCTCTCTCTCTCTCCTCTCTCCTCTTCCTCTCTCTCTC TCCTCTTCCTCTCTCTCTCTCCTCTTCCTCTCTCTCCCTCCTCTTCCTCT CTCTCCCTCCTCTTCCTCTCTCCCTCCTCTTCCTCTCTCTCTCCTCTTCC TCTCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCCTCT TCCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCCTC TTCCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCCTCTCTCTC TCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCCTCTTCCTCTCTCT CTCTCCCCTTCCTCTCTTTCTCTCCCCTTCCTCTCTCTCTCCTCTTCCTC CCTGTCTCCTCTTCCTCCCTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCT CTCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCCTCTCTGTCTCCTCCT TTTCCTCTCTGTCTCTTCCTCTCTCTGTCTCCTCTTCTGTCTCCTCCTCT CTCTGTCTCCTCCTCTCTCTGTCTCCTCCTCTCTCTGTCTCCTCCTCTCT CTGTCTCCTCTTCCTCTCTGTCTTCTTCCTCTCTCTCTCTTCTTCCACTC TCTCTTCTTCCTCTCTCTCTCCTTTCTCTCTTTCCTCTTCCTCTCTCCTC TCCCTCTCTCTCTCCTCTCCCTCTCCCTCTCTCTCTCCTCTCCCTCTCCC TCTCTCTCTCCTCTCCCTCTCCCTCTCTCTCTCCTCTCCCCCTCCCTCTC TCTCTCCTCTCCCCCTCCCTCTCTCTCTCCTCTCCCCCTCCCTCTCTCTC TCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTC TCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCC CTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTC TCCTCTCCCCCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTC TCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCT CTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTC TCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTTTCTCCTC TCCCTCTCTCTCCTCTCCCTCTCTCTCTCCTCTCCCTCTCTCCTCTCCCT CTCTCTTCTCCCTCTCTCTCCTCTCCCTCTCTCTCTCCTCTCCCTCTCTC TCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCC TCTCCCTCTCTCTCCTCTCCCTCTCTCTCTCCTCTCCCTCTCTCCTCTCC CTCTCTCTCTTCTCCCTCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTC TCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCT CCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCT CCCTCTCTCTCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	174	0.0058	2018	c.189 others(2037): Show c.1899+2610_1899+2611insTCCTCTCCTCTCTCTCCTCTTCCTCT CCTCTCTCTCCTCTTCCTCTCCTCTCTCCTCTTCCTCTCCTCTCTCTCTC TCTCCTCTTCCTCTCTCTCTTCTTCCTCTCTCTGCTCTTCCTCTCCTCTC TCCTCTTCCTCTCCTCTCTCTCTTCTCTCCTCTCTTCTTCCTCTCTCTCT CCTCTCTGTCTCTCCTCTTCCTCTCGTCTCTCTCTTCTCTCCTCTTCTTC CTCTCTCTCCTCTTCCTCTCTCTCTTCTTCCTCTGTCTTCTCTTCCTCTC CTCTCTGTCTCTCTCCTCTTCCCCTCTTTCTCCTCTTCCCCTCTCTCTCT CCTCTTCCCCTCTCTCTCCTCTTGCCCCCCTCTCTCCTCTTCCTCTCTCC TTTTCCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTC CTTTTCCTCTCTCTCTCTCCTATTCCTCTCTCTCTCTCCTCTCTCCTCTT CCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCCTCTCTCTCCC TCCTCTTCCTCTCTCTCCCTCCTCTTCCTCTCTCCCTCCTCTTCCTCTCT CTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCCTC TCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCCTCTTC CTCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCTCCTC TTCCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCCT CTTCCTCTCTCTCTCTCCCCTTCCTCTCTTTCTCTCCCCTTCCTCTCTCT CTCCTCTTCCTCCCTGTCTCCTCTTCCTCCCTCTCTCCTCTTCCTCTCTC TCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCTCTCCTCTTCCTCT CTGTCTCCTCCTTTTCCTCTCTGTCTCTTCCTCTCTCTGTCTCCTCTTCT GTCTCCTCCTCTCTCTGTCTCCTCCTCTCTCTGTCTCCTCCTCTCTCTGT CTCCTCCTCTCTCTGTCTCCTCTTCCTCTCTGTCTTCTTCCTCTCTCTCT CTTCTTCCACTCTCTCTTCTTCCTCTCTCTCTCCTTTCTCTCTTTCCTCT TCCTCTCTCCTCTCCCTCTCTCTCTCCTCTCCCTCTCCCTCTCTCTCTCC TCTCCCTCTCCCTCTCTCTCTCCTCTCCCTCTCCCTCTCTCTCTCCTCTC CCCCTCCCTCTCTCTCTCCTCTCCCCCTCCCTCTCTCTCTCCTCTCCCCC TCCCTCTCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCC CCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTC TCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCC TCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCTCTCTCTCCTCTCC CTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTC TCTCCTCTCCCTCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCC TCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCC CCCTTTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCTCCTCTCCCTC TCTCCTCTCCCTCTCTCTTCTCCCTCTCTCTCCTCTCCCTCTCTCTCTCC TCTCCCTCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCT CCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCTCCTCTCCC TCTCTCCTCTCCCTCTCTCTCTTCTCCCTCTCTCTCTCCTCTCCCTCTCT CTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCT CTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCC TCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
YEATS2_chr3_183692797_183817624	183715278	T T	TAGGAAAT others(2011): Show TAGGAAATTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTT TTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCA TGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTC TCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTC CCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTG CCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCAT TTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGG TAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGC AGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACGG CAACCATCCGATTTCCCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTC CACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGCTGGGCA CACCTCCCAGACGGGGTGGCGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCCCACCTCCTGGGCGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGTCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACCGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTC CCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTCACCTCC CTCCCGGACGGGGTGGCTGCCGGGCGGAGATGCTCCTCACTTCCCAGATG GGGTGGCTGCTGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGC CGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAGG GTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTC CCAGACGGGGTCTCGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGGG CGGTGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAG AGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTCCT CACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTCCCAG ACTGGGCGGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGCC AGGCAGAGACACTCCTCACTTCCCAGACGGGGTGGCGGCTGGGCAGAGGC TGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGG TTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGA GCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCG AGGTTGGCGGATCACTCGCAGTTAGGGGCTGGAGACCGGCCCGGCCAACA CAGCGAAACCCCGTCTCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGCC TGCAATCGCAGGCACTGGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGG TTGCAGTGAGCTGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATG AGAGGGAGACCGTGGGGAGACGGAGACGGAGACGGAGACGGAGACGGAGA CGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0011 a0011	a0011c0030 a0011c0030	a0011c0030t0002 a0011c0030t0002	a0011c0030t0002g0061 a0011c0030t0002g0061	1	310	0.0032	2018	c.100 others(2031): Show c.100+32_100+33insTTTTTTTTTTTTTTTTTTTTTTAATTTATTTT TTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTC ATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGT CTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGT CCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCT GCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCA TTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGG GTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTG CAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCCACACAGACACG GCAACCATCCGATTTCCCAATCTTTTCCCCACCTTTCCCGCCTTTCTATT CCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGCTGGGC ACACCTCCCAGACGGGGTGGCGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCCCACCTCCTGGGCGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGTCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACCGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGACCCCCCACCT CCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTCACCTC CCTCCCGGACGGGGTGGCTGCCGGGCGGAGATGCTCCTCACTTCCCAGAT GGGGTGGCTGCTGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTG CCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGTGGTTGCCAGGCAGAG GGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCT CCCAGACGGGGTCTCGGCCGGGCAGAGGCGCTCCTCACATCCCAGATGGG GCGGTGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCA GAGACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGGCGCTCC TCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTCCCA GACTGGGCGGCCGGGCAGAGGGGCTCCTCACATCCCAGACGATGGGCGGC CAGGCAGAGACACTCCTCACTTCCCAGACGGGGTGGCGGCTGGGCAGAGG CTGCAATCTCGGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAG GTTGTAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTG AGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCC GAGGTTGGCGGATCACTCGCAGTTAGGGGCTGGAGACCGGCCCGGCCAAC ACAGCGAAACCCCGTCTCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGC CTGCAATCGCAGGCACTGGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAG GTTGCAGTGAGCTGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCAT GAGAGGGAGACCGTGGGGAGACGGAGACGGAGACGGAGACGGAGACGGAG ACGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGGAAATTATTTCTTT	YEATS2	ENSG00000163872.16	transcript	ENST00000305135.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(2012): Show GTACTATATATATTTTATATATAGTATGTACTATATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACATTGTATATACTATA TATATATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTT ATGTATAGTATGTACTATATATATTTTATACATAGTATATACATTGTATA TACTATATATATTTTATACATAGTATATATACTGTATATACTATATATAT TTTATACATAGTATATATACTGTATATACTATATATATTTTATACATAGT ATATATACTGTATATACTATATATATTTTATACATAGTATATATACTGTA TATACTATATATATTTTATACATAGTATATATACTGTATATACTATATAT ATTTTATACATAGTATATACTGTATATACTATATATATTTTATACATAGT ATATACTGTATATACTATATATATTTTATACATAGTATATATACTGTATA TACTATATATATTTTATACATAGTATATATACTGTATATACTATATATAT TTTATACATAGTATATATACTGTATATACTATATATATTTTATACATAGT ATATATACTGTATATACTATATATATTTTATACATAGTATATATACTGTA TATACTATATATATTTTATACATAGTATATATACTGTATATACTATATAT ATTTTATACATAGTATATATACTGTATATACTATATATATTTTATACATA GTATATATACTGTATATACTATATATATTTTATACATAGTATATATACTG TATATACTATATATATTTTATACATAGTATATATACTGTATATACTATAT ATATTTTATACATAGTATATATACTGTATATACTATATATATTTTATACA TAGTATATATACTGTATATACTATATATATTTTATACATAGTATATATAC TGTATATACTATATATATTTTATACATAGTATATATACTGTATATACTAT ATATATTTTATACATAGTATATATACTGTATATACTATATATATTTTATA CATAGTATATATACTGTATATACTATATATATTTTATACATAGTATATAT ACTGTATATACTATATATATTTTATACATAGTATATATACTGTATATACT ATATATATTTTATACATAGTATATATACTGTATATACTATATATATTTTA TACATAGTATATATACTGTATATACTATATATATTTTATACATAGTATAT ATACTGTATATACTATATATATTTTATACATAGTATATATACTGTATATA CTATATATATTTTATACATAGTATATATACTGTATATACTATATATATTT TATACATAGTATATATACTGTATATACTATATATATTTTATACATAGTAT ATATACTGTATATACTATATATATTTTATACATAGTATATATACTGTATA TACTATATATATTTTATACATAGTATATATACTGTATATACTATATATAT TTTATACATAGTATATATACTGTATATACTATATATATTTTATACATAGT ATATATACTGTATATACTATATATATTTTATATATAGTATATATACTGTA TATACTATATATATTTTATATATAGTATATATACTGTATATACTATATAT ATTTTATATATAGTATATATACTGTATATACTATATATATTTTATATATA GTATATATACTGTATATACTATATATATTTTATATATAGTATATATACTG TATATACTATATATATTTTATATATAGTATATATACTGTATATACTATAT ATATTTTATATATAGTATATATACTGTATATACTATATATATTTTATATA TAGTATATATACTGTATATACTATATATATTTTATATATAGTATATATAC TGTATATACTATATATATTTTATATATAGTATATATACTGTATATACTAT ATATATTTTATATATAGTATATATACTGTATATACTATATATATTTTATA TATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0033 a0001c0001t0019g0033	1	182	0.0055	2019	c.505 others(2038): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATATATAAAATATATATAGTATATACAGTATAT ATACTATATATAAAATATATATAGTATATACAGTATATATACTATATATA AAATATATATAGTATATACAGTATATATACTATATATAAAATATATATAG TATATACAGTATATATACTATATATAAAATATATATAGTATATACAGTAT ATATACTATATATAAAATATATATAGTATATACAGTATATATACTATATA TAAAATATATATAGTATATACAGTATATATACTATATATAAAATATATAT AGTATATACAGTATATATACTATATATAAAATATATATAGTATATACAGT ATATATACTATATATAAAATATATATAGTATATACAGTATATATACTATG TATAAAATATATATAGTATATACAGTATATATACTATGTATAAAATATAT ATAGTATATACAGTATATATACTATGTATAAAATATATATAGTATATACA GTATATATACTATGTATAAAATATATATAGTATATACAGTATATATACTA TGTATAAAATATATATAGTATATACAGTATATATACTATGTATAAAATAT ATATAGTATATACAGTATATATACTATGTATAAAATATATATAGTATATA CAGTATATATACTATGTATAAAATATATATAGTATATACAGTATATATAC TATGTATAAAATATATATAGTATATACAGTATATATACTATGTATAAAAT ATATATAGTATATACAGTATATATACTATGTATAAAATATATATAGTATA TACAGTATATATACTATGTATAAAATATATATAGTATATACAGTATATAT ACTATGTATAAAATATATATAGTATATACAGTATATATACTATGTATAAA ATATATATAGTATATACAGTATATATACTATGTATAAAATATATATAGTA TATACAGTATATATACTATGTATAAAATATATATAGTATATACAGTATAT ATACTATGTATAAAATATATATAGTATATACAGTATATATACTATGTATA AAATATATATAGTATATACAGTATATATACTATGTATAAAATATATATAG TATATACAGTATATATACTATGTATAAAATATATATAGTATATACAGTAT ATATACTATGTATAAAATATATATAGTATATACAGTATATATACTATGTA TAAAATATATATAGTATATACAGTATATATACTATGTATAAAATATATAT AGTATATACAGTATATATACTATGTATAAAATATATATAGTATATACAGT ATATATACTATGTATAAAATATATATAGTATATACAGTATATATACTATG TATAAAATATATATAGTATATACAGTATATATACTATGTATAAAATATAT ATAGTATATACAGTATATATACTATGTATAAAATATATATAGTATATACA GTATATATACTATGTATAAAATATATATAGTATATACAGTATATACTATG TATAAAATATATATAGTATATACAGTATATACTATGTATAAAATATATAT AGTATATACAGTATATATACTATGTATAAAATATATATAGTATATACAGT ATATATACTATGTATAAAATATATATAGTATATACAGTATATATACTATG TATAAAATATATATAGTATATACAGTATATATACTATGTATAAAATATAT ATAGTATATACAGTATATATACTATGTATAAAATATATATAGTATATACA ATGTATATACTATGTATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATATAGT ATATACAATGTACATACTATATATAAAATATATATAGTACATACTATATA TAAAATATATATAGTACATACTATATATAAAATATATATAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(2012): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCTGTCCAGGCCCC GACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCC TGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGA GCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGT CCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCC CCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGC GTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGC CTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCC AGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0023 a0003c0006t0001g0023	1	391	0.0026	2019	c.36 others(2030): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTG GCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC TCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGC AGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTC CTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAG AGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGC CTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCC AGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCG TCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAG CCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CLPTM1L_chr5_1312752_1350099	1333054	G G	GGATGAGG others(2012): Show GGATGAGGATAAGGGGGGACTACTGTATACACACCAGATAAGGGGGGACT ACTGTATACACACCGGATGAGGATAAGGGGAGACTACTGTATACACACGG GATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGA CTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACAC ACGGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAA GGGGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTA TACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAG GATAAGGGGAGACTACTGTATACACACGGGATGAGGATGAGGGACTATTG TATACACACCAGATGAGGATAAGGGGGACTACTGTATACACACCGGATGA GGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACT ACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAGATACACGG GATGAGGATAAGGGGGGACTACTGTATACACACACGGGATGAGGATAAGG GGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATA CACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGA TAAGGGGGGACTAATGTATACACACCAGATGAGGATAAGGGGGGACTACT GTATACACACCGGATGAGGATAAGGGGGGACTACTGTAGACACACGGGAT GAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGA CTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACAC CAGATGAGGATAAGGGGGGACTACTGTACACACACGGGATGAGGATAAGG GGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATA CACACCGGATGAGGATAAGGGGGGACTACTGTAGACACACGGGATGAGGA TAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACT GTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACACCAGAT GAGGATAAGGGGGGACTACTGTACACACACGGGATGAGGATAAGGGGGGA CTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAGACACAC GGGATGAGGATAAGGGGGGACTACTGTATACACACACGGGATGAGGATAA GGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGGGACTATTGTA TACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAG GATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGACTAC TGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACACCAGA TGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGA CTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACAC CGGATGAGGATAAGGGGGGACTACTGTAGACACACGGGATGAGGATAAGG GGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATA CACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGA TAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACT GTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACATTGGAT GAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGAC TACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACACC AGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGG GGACTACTGTATACACACCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG01496.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0024 a0001c0001t0001g0025	2	370	0.0054	2019	c.892 others(2036): Show c.892-1172_892-1171insTGGTGTGTATACAGTAGTCCCCCTTATC CTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTA TACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCT TATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATG TGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATC TGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCCCGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCTT ATCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGT GTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTG GTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAG TCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTC ATCCCGTGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTCT ACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCT TATCCTCATCCCGTGTGTGTACAGTAGTCCCCCCTTATCCTCATCTGGTG TGTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCC CCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATC CCGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCCCGTGTGTGTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCT TATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTG TGTCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCTGGTGTGTATACATTAGTCCCCCCTTATCCTCATC TGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGT AGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCC TCATCCCGTGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTAT CTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGG TGTGTATACAGTAGTCCCCCTTATCCTCATCTGGTGTGTATACAATAGTC CCTCATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATCCG GTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAG TCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCCCCTTATCCTC ATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCT TATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGT ATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
DLEC1_chr3_38034208_38129025	38084579	G G	GGGGGGTG others(2012): Show GGGGGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTG GTGGTGGTAGTAGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTAGT AGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAGTAG TGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGTGGT GGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGG TAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTAGTA GTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGT AGTGGTAGTAGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGG TAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTA GTGGTGGTGGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGT AGTAGTAGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGG TAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTGGTGGTG GTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTAGTGGTGGT GGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAG TGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTA GTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGT AGTGGTGGTGGTAGTAGTGGTAGTGGTAGTAGTGGTGGTGGTAGTAGTGG TGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTGGTA GTAGTGGTAATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGT AGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTGGTAGTAGTGGTGGTGG TGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTA GTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGT AGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGG TAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTGGTA GTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGT AGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTAG TGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTG GTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGT AGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAG TAGTGGTAGTAGTAGTGGTAGTAGTAGTGGTGGTAGTGGTGGTGGTGGTA GTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGT GGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGG TGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTAGTAGTAGTGGTGGTG GTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTGGT GGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAG TAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTA ATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGT AGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAG TGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAATAGTAGTGGTG GTGGTAGTAGTAGTAGTGGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0252 a0009c0017t0001g0252	1	298	0.0034	2019	c.126 others(2036): Show c.1261+352_1261+353insGGTAGTAGTAGTAGTGGTAGTAGTAGTA GTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGT AGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTAGTAGTAG TAGTGGTTGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTA GTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTGGTGGT GGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAG TGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTA GTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGT AGTAGTGGTAGTAGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAG TGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTA GTAGTGGTGGTGGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGT GGTAGTAGTAGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGG TGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTGGTG GTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTAGTGGT GGTGGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAG TAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTG GTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGT AGTAGTGGTGGTGGTAGTAGTGGTAGTGGTAGTAGTGGTGGTGGTAGTAG TGGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTGGTGGTG GTAGTAGTGGTAATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGT AGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTGGTAGTAGTGGTGG TGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTA GTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGT AGTAGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGG TGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTG GTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTGGTAGT AGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAG TAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTG GTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGT AGTAGTGGTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGG TAGTAGTGGTAGTAGTAGTGGTAGTAGTAGTGGTGGTAGTGGTGGTGGTG GTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGT AGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAG TGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTAGTAGTAGTGGTG GTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGT GGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAG TAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTG GTAATAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGT GGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAG TAGTGGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAATAGTAGTG GTGGTGGTAGTAGTAGTAGTGGTGGGGGTGGTAGTAGTAGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
GALR1_chr18_77244848_77282900	77252905	C C	CCATCACC others(2012): Show CCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCATCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCATCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0328 a0001c0004t0004g0328	1	366	0.0027	2019	c.666 others(2036): Show c.666+1693_666+1694insTCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCATCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCAC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCACCATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
MOGAT2_chr11_75712838_75737953	75731453	A A	ACTCTGGC others(2012): Show ACTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCTCTGCAAGCCTCC TGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAGGGCTGGAGGAGA ATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCACTCAAACATTATA AAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTTTTATTCCTCTGA CCTTGAGTGACAGCACAAAAGAAGCCACCAGCTCCAGTCCCTTCTCCTAC AAGACTCGTCTTCTTGCACCCTGGATGTCCCAGGTCCTCCCTCTCCATGC TGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACCCTAGGTAGCTTC AAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGCCAGAGGCACACAGAA ACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCTATATGACTGTGG GCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCCCACTGATTCTGA GTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATAAGGCGCCTCTTA CTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAAAAAAGGGGGCTC CATAAATGCCAGTTCAACAAATGAGAGAATTATATTTTAGCATGCTTCTC TTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCCTTACCCTTGACC CCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAGAAGTTGAATGAG ACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTGATGCATCAACCC TAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGAAGCGGGGGTCAA TTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGAAACCAGATGTGA GATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAGAGGGGAAAGACG GGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGTTAAGGCCGTGCA TCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCAGGGTTTGTGACT CTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTGCCAGGAGGAGAT CACACCCACAACCACAACACGGGGCACTTAGAGAAGTGTACATTTGGGTT TCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCCTGGGCAAGCCAC ATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATACTATAGTATCCA CCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTATTCCATGTCCTT TGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAGGTGACAAAGTTG CCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTAGGCAGTATGATA TAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTTTAGAAAAGGGAG GGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTGACAAGTGGGCAA GACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAATAACGGCCCATA GTAATTACCTACTGCTATACAATGAACCACTTCAAAACTTAATGACTGGC CGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTGGGGGGCCAAGGT GGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGAAACACGGT GAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAAATTAGGCGGGTA TGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGACTAAGGTGAGAGG ATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCGAGATTGCGCCAC TGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTCAAAAACAACAAC AACAACAACAACAACAACAACCACCACAACTTAATGGTTGAAGAGCATGA GGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGGTGGTTCTTCTTG GGTCTTGCAGCTGCATCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0023 a0005c0007t0023	a0005c0007t0023g0072 a0005c0007t0023g0072	1	418	0.0024	2019	c.16 others(2028): Show c.168_*169insTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCT CTGCAAGCCTCCTGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAG GGCTGGAGGAGAATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCAC TCAAACATTATAAAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTT TTATTCCTCTGACCTTGAGTGACAGCACAAAAGAAGCCACCAGCTCCAGT CCCTTCTCCTACAAGACTCGTCTTCTTGCACCCTGGATGTCCCAGGTCCT CCCTCTCCATGCTGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACC CTAGGTAGCTTCAAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGCCAG AGGCACACAGAAACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCT ATATGACTGTGGGCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCC CACTGATTCTGAGTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATA AGGCGCCTCTTACTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAA AAAAGGGGGCTCCATAAATGCCAGTTCAACAAATGAGAGAATTATATTTT AGCATGCTTCTCTTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCC TTACCCTTGACCCCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAG AAGTTGAATGAGACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTG ATGCATCAACCCTAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGA AGCGGGGGTCAATTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGA AACCAGATGTGAGATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAG AGGGGAAAGACGGGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGT TAAGGCCGTGCATCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCA GGGTTTGTGACTCTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTG CCAGGAGGAGATCACACCCACAACCACAACACGGGGCACTTAGAGAAGTG TACATTTGGGTTTCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCC TGGGCAAGCCACATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATA CTATAGTATCCACCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTA TTCCATGTCCTTTGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAG GTGACAAAGTTGCCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTA GGCAGTATGATATAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTT TAGAAAAGGGAGGGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTG ACAAGTGGGCAAGACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAA TAACGGCCCATAGTAATTACCTACTGCTATACAATGAACCACTTCAAAAC TTAATGACTGGCCGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTG GGGGGCCAAGGTGGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCT GGGAAACACGGTGAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAA ATTAGGCGGGTATGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGAC TAAGGTGAGAGGATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCG AGATTGCGCCACTGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTC AAAAACAACAACAACAACAACAACAACAACAACCACCACAACTTAATGGT TGAAGAGCATGAGGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGG TGGTTCTTCTTGGGTCTTGCAGCTGCATCCAGC	MOGAT2	ENSG00000166391.15	transcript	ENST00000198801.10	protein_coding	6/6	169	INFO_REALIGN_3_PRIME	chr11	TogoVar
MOGAT2_chr11_75712838_75737953	75731453	A A	ACTCTGGC others(2012): Show ACTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCTCTGCGAGCCTCC TGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAGGGCTGGAGGAGA ATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCACTCAAACATTATA AAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTTTTATTCCTCTGA CCTTGAGTGACAGAACAAAAGAAGCCACCAGCTCCAGTCCCTTCTCCTAC AAGACTCGTCATCTTGCACCCTGGATGTCCCAGGTCCTCCCTCTCCATGC TGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACCCTAGGTAGCTTC AAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGCCAGAGGCACACAGAA ACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCTATATGACTGTGG GCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCCCACTGATTCTGA GTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATAAGGTGCCTCTTA CTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAAAAAAGGGGGCTC CATAAATTCCAGTTCAACAAATGAGAGAATTATATTTTAGCATGCTTCTC TTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCCTTACCCTTGACC CCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAGAAGTTGAATGAG ACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTGATGCATCAACCC TAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGAAGCGGGGGTCAA TTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGAAACCAGATGTGA GATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAGAGGGGAAAGACG GGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGTTAAGGCCGTGCA TCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCAGGGTTTGTGACT CTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTGCCAGGAGGAGAT CACACCCATAACCACAACACGGGGCACTTAGAGAAGTGTACATTTGGGTT TCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCCTGGGCAAGCCAC ATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATACTATAGTATCCA CCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTATTCCATGTCCTT TGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAGGTGACAAAGTTG CCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTAGGCAGTATGATA TAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTTTAGAAAAGGGAG GGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTGACAAGTGGGCAA GACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAATAACGGCCCATA GTAATTACCTACTGCTATACAATGAACCACTTCAAAACTTAATGACTGGC CGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTGGGGGGCCAAGGT GGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGAAACACGGT GAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAAATTAGGCGGGTA TGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGACTAAGGTGAGAGG ATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCGAGATTGCGCCAC TGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTCAAAAACAACAAC AACAACAACAACAACAACAACAACCACAACTTAATGGTTGAAGAGCATGA GGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGGTGGTTCTTCTTG GGTCTTGCAGCTGCATCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 NA19087.hp1 HG03540.hp2 NA19087.hp1	a0002 a0007 a0002 a0007	a0002c0005 a0007c0011 a0002c0005 a0007c0011	a0002c0005t0031 a0007c0011t0029 a0002c0005t0031 a0007c0011t0029	a0002c0005t0031g0058 a0007c0011t0029g0126 a0002c0005t0031g0058 a0007c0011t0029g0126	2	418	0.0048	2019	c.16 others(2028): Show c.168_*169insTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCT CTGCGAGCCTCCTGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAG GGCTGGAGGAGAATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCAC TCAAACATTATAAAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTT TTATTCCTCTGACCTTGAGTGACAGAACAAAAGAAGCCACCAGCTCCAGT CCCTTCTCCTACAAGACTCGTCATCTTGCACCCTGGATGTCCCAGGTCCT CCCTCTCCATGCTGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACC CTAGGTAGCTTCAAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGCCAG AGGCACACAGAAACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCT ATATGACTGTGGGCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCC CACTGATTCTGAGTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATA AGGTGCCTCTTACTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAA AAAAGGGGGCTCCATAAATTCCAGTTCAACAAATGAGAGAATTATATTTT AGCATGCTTCTCTTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCC TTACCCTTGACCCCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAG AAGTTGAATGAGACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTG ATGCATCAACCCTAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGA AGCGGGGGTCAATTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGA AACCAGATGTGAGATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAG AGGGGAAAGACGGGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGT TAAGGCCGTGCATCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCA GGGTTTGTGACTCTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTG CCAGGAGGAGATCACACCCATAACCACAACACGGGGCACTTAGAGAAGTG TACATTTGGGTTTCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCC TGGGCAAGCCACATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATA CTATAGTATCCACCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTA TTCCATGTCCTTTGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAG GTGACAAAGTTGCCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTA GGCAGTATGATATAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTT TAGAAAAGGGAGGGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTG ACAAGTGGGCAAGACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAA TAACGGCCCATAGTAATTACCTACTGCTATACAATGAACCACTTCAAAAC TTAATGACTGGCCGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTG GGGGGCCAAGGTGGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCT GGGAAACACGGTGAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAA ATTAGGCGGGTATGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGAC TAAGGTGAGAGGATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCG AGATTGCGCCACTGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTC AAAAACAACAACAACAACAACAACAACAACAACAACCACAACTTAATGGT TGAAGAGCATGAGGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGG TGGTTCTTCTTGGGTCTTGCAGCTGCATCCAGC	MOGAT2	ENSG00000166391.15	transcript	ENST00000198801.10	protein_coding	6/6	169	INFO_REALIGN_3_PRIME	chr11	TogoVar
MOGAT2_chr11_75712838_75737953	75731453	A A	ACTCTGGC others(2012): Show ACTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCTCTGCGAGCCTCC TGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAGGGCTGGAGGAGA ATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCACTCAAACATTATA AAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTTTTATTCCTCTGA CCTTGAGTGACAGAACAAAAGAAGCCACCAGCTCCAGTCCCTTCTCCTAC AAGACTCGTCATCTTGCACCCTGGATGTCCCAGGTCCTCCCTCTCCATGC TGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACCCTAGGTAGCTTC AAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGCCAGAGGCACACAGAA ACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCTATATGACTGTGG GCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCCCACTGATTCTGA GTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATAAGGTGCCTCTTA CTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAAAAAAGGGGGCTC CATAAATTCCAGTTCAACAAATGAGAGAATTATATTTTAGCATGCTTCTC TTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCCTTACCCTTGACC CCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAGAAGTTGAATGAG ACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTGATGCATCAACCC TAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGAAGCGGGGGTCAA TTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGAAACCAGATGTGA GATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAGAGGGGAAAGACG GGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGTTAAGGCCGTGCA TCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCAGGGTTTGTGACT CTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTGCCAGGAGGAGAT CACACCCATAACCACAACACGGGGCACTTAGAGAAGTGTACATTTGGGTT TCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCCTGGGCAAGCCAC ATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATACTATAGTATCCA CCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTATTCCATGTCCTT TGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAGGTGACAAAGTTG CCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTAGGCAGTATGATA TAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTTTAGAAAAGGGAG GGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTGACAAGTGGGCAA GACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAATAACGGCCCATA GTAATTACCTACTGCTATACAATGAACCACTTCAAAACTTAATGACTGGC CGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTGGGGGGCCAAGGT GGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGAAACACGGT GAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAAATTAGGCGGGTA TGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGACTAAGGTGAGAGG ATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCGAGATTGCGCCAC TGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTCAAAAACAACAAC AACAACAACAACAACAACAACCACCACAACTTAATGGTTGAAGAGCATGA GGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGGTGGTTCTTCTTG GGTCTTGCAGCTGCATCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp1 NA18947.hp1 NA18951.hp1 others(5): Show NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18964.hp1 NA18970.hp2 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0001c0006 a0002c0005	a0001c0006t0004 a0002c0005t0004 a0002c0005t0032 a0001c0006t0004 a0002c0005t0004 a0002c0005t0032	a0001c0006t0004g0113 a0001c0006t0004g0114 a0002c0005t0004g0027 others(3): Show a0001c0006t0004g0113 a0001c0006t0004g0114 a0002c0005t0004g0027 a0002c0005t0004g0058 a0002c0005t0004g0222 a0002c0005t0032g0228	8	418	0.0191	2019	c.16 others(2028): Show c.168_*169insTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCT CTGCGAGCCTCCTGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAG GGCTGGAGGAGAATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCAC TCAAACATTATAAAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTT TTATTCCTCTGACCTTGAGTGACAGAACAAAAGAAGCCACCAGCTCCAGT CCCTTCTCCTACAAGACTCGTCATCTTGCACCCTGGATGTCCCAGGTCCT CCCTCTCCATGCTGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACC CTAGGTAGCTTCAAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGCCAG AGGCACACAGAAACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCT ATATGACTGTGGGCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCC CACTGATTCTGAGTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATA AGGTGCCTCTTACTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAA AAAAGGGGGCTCCATAAATTCCAGTTCAACAAATGAGAGAATTATATTTT AGCATGCTTCTCTTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCC TTACCCTTGACCCCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAG AAGTTGAATGAGACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTG ATGCATCAACCCTAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGA AGCGGGGGTCAATTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGA AACCAGATGTGAGATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAG AGGGGAAAGACGGGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGT TAAGGCCGTGCATCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCA GGGTTTGTGACTCTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTG CCAGGAGGAGATCACACCCATAACCACAACACGGGGCACTTAGAGAAGTG TACATTTGGGTTTCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCC TGGGCAAGCCACATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATA CTATAGTATCCACCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTA TTCCATGTCCTTTGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAG GTGACAAAGTTGCCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTA GGCAGTATGATATAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTT TAGAAAAGGGAGGGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTG ACAAGTGGGCAAGACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAA TAACGGCCCATAGTAATTACCTACTGCTATACAATGAACCACTTCAAAAC TTAATGACTGGCCGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTG GGGGGCCAAGGTGGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCT GGGAAACACGGTGAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAA ATTAGGCGGGTATGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGAC TAAGGTGAGAGGATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCG AGATTGCGCCACTGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTC AAAAACAACAACAACAACAACAACAACAACAACCACCACAACTTAATGGT TGAAGAGCATGAGGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGG TGGTTCTTCTTGGGTCTTGCAGCTGCATCCAGC	MOGAT2	ENSG00000166391.15	transcript	ENST00000198801.10	protein_coding	6/6	169	INFO_REALIGN_3_PRIME	chr11	TogoVar
MOGAT2_chr11_75712838_75737953	75731453	A A	ACTCTGGC others(2012): Show ACTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCTCTGCGAGCCTCC TGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAGGGCTGGAGGAGA ATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCACTCAAACATTATA AAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTTTTATTCCTCTGA CCTTGAGTGACAGCACAAAAGAAGCCACCAGCTCCAGTCCCTTCTCCTAC AAGACTCGTCATCTTGCACCCTGGATGTCCCAGGTCCTCCCTCTCCATGC TGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACCCTAGGTAGCTTC AAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGACAGAGGCACACAGAA ACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCTATATGACTGTGG GCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCCCACTGATTCTGA GTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATAAGGCGCCTCTTA CTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAAAAAAGGGGGCTC CATAAATGCCAGTTCAACAAATGAGAGAATTATATTTTAGCATGCTTCTC TTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCCTTACCCTTGACC CCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAGAAGTTGAATGAG ACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTGATGCATCAACCC TAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGAAGCGGGGGTCAA TTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGAAACCAGATGTGA GATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAGAGGGGAAAGACG GGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGTTAAGGCCGTGCA TCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCAGGGTTTGTGACT CTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTGCCAGGAGGAGAT CACACCCATAACCACAACACGGGGCACTTAGAGAAGTGTACATTTGGGTT TCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCCTGGGCAAGCCAC ATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATACTATAGTATCCA CCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTATTCCATGTCCTT TGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAGGTGACAAAGTTG CCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTAGGCAGTATGATA TAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTTTAGAAAAGGGAG GGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTGACAAGTGGGCAA GACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAATAACGGCCCATA GTAATTACCTACTGCTATACAATGAACCACTTCAAAACTTAATGACTGGC CGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTGGGGGGCCAAGGT GGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGAAACACGGT GAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAAATTAGGCGGGTA TGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGACTAAGGTGAGAGG ATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCGAGATTGCGCCAC TGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTCAAAAACAACAAC AACAACAACAACAACAACAACAACCACAACTTAATGGTTGAAGAGCATGA GGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGGTGGTTCTTCTTG GGTCTTGCAGCTGCATCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG02615.hp2 others(8): Show HG01243.hp2 HG02572.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0012 a0002c0002 a0002c0017 others(1): Show a0001c0012 a0002c0002 a0002c0017 a0003c0003	a0001c0012t0002 a0002c0002t0002 a0002c0017t0002 others(1): Show a0001c0012t0002 a0002c0002t0002 a0002c0017t0002 a0003c0003t0002	a0001c0012t0002g0083 a0002c0002t0002g0007 a0002c0002t0002g0174 others(3): Show a0001c0012t0002g0083 a0002c0002t0002g0007 a0002c0002t0002g0174 a0002c0002t0002g0188 a0002c0017t0002g0007 a0003c0003t0002g0170	11	418	0.0263	2019	c.16 others(2028): Show c.168_*169insTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCT CTGCGAGCCTCCTGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAG GGCTGGAGGAGAATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCAC TCAAACATTATAAAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTT TTATTCCTCTGACCTTGAGTGACAGCACAAAAGAAGCCACCAGCTCCAGT CCCTTCTCCTACAAGACTCGTCATCTTGCACCCTGGATGTCCCAGGTCCT CCCTCTCCATGCTGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACC CTAGGTAGCTTCAAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGACAG AGGCACACAGAAACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCT ATATGACTGTGGGCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCC CACTGATTCTGAGTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATA AGGCGCCTCTTACTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAA AAAAGGGGGCTCCATAAATGCCAGTTCAACAAATGAGAGAATTATATTTT AGCATGCTTCTCTTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCC TTACCCTTGACCCCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAG AAGTTGAATGAGACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTG ATGCATCAACCCTAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGA AGCGGGGGTCAATTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGA AACCAGATGTGAGATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAG AGGGGAAAGACGGGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGT TAAGGCCGTGCATCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCA GGGTTTGTGACTCTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTG CCAGGAGGAGATCACACCCATAACCACAACACGGGGCACTTAGAGAAGTG TACATTTGGGTTTCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCC TGGGCAAGCCACATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATA CTATAGTATCCACCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTA TTCCATGTCCTTTGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAG GTGACAAAGTTGCCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTA GGCAGTATGATATAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTT TAGAAAAGGGAGGGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTG ACAAGTGGGCAAGACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAA TAACGGCCCATAGTAATTACCTACTGCTATACAATGAACCACTTCAAAAC TTAATGACTGGCCGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTG GGGGGCCAAGGTGGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCT GGGAAACACGGTGAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAA ATTAGGCGGGTATGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGAC TAAGGTGAGAGGATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCG AGATTGCGCCACTGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTC AAAAACAACAACAACAACAACAACAACAACAACAACCACAACTTAATGGT TGAAGAGCATGAGGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGG TGGTTCTTCTTGGGTCTTGCAGCTGCATCCAGC	MOGAT2	ENSG00000166391.15	transcript	ENST00000198801.10	protein_coding	6/6	169	INFO_REALIGN_3_PRIME	chr11	TogoVar
MOGAT2_chr11_75712838_75737953	75731453	A A	ACTCTGGC others(2012): Show ACTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCTCTGCGAGCCTCC TGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAGGGCTGGAGGAGA ATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCACTCAAACATTATA AAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTTTTATTCCTCTGA CCTTGAGTGACAGCACAAAAGAAGCCACCAGCTCCAGTCCCTTCTCCTAC AAGACTCGTCATCTTGCACCCTGGATGTCCCAGGTCCTCCCTCTCCATGC TGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACCCTAGGTAGCTTC AAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGACAGAGGCACACAGAA ACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCTATATGACTGTGG GCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCCCACTGATTCTGA GTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATAAGGCGCCTCTTA CTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAAAAAAGGGGGCTC CATAAATGCCAGTTCAACAAATGAGAGAATTATATTTTAGCATGCTTCTC TTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCCTTACCCTTGACC CCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAGAAGTTGAATGAG ACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTGATGCATCAACCC TAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGAAGCGGGGGTCAA TTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGAAACCAGATGTGA GATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAGAGGGGAAAGACG GGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGTTAAGGCCGTGCA TCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCAGGGTTTGTGACT CTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTGCCAGGAGGAGAT CACACCCATAACCACAACACGGGGCACTTAGAGAAGTGTACATTTGGGTT TCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCCTGGGCAAGCCAC ATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATACTATAGTATCCA CCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTATTCCATGTCCTT TGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAGGTGACAAAGTTG CCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTAGGCAGTATGATA TAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTTTAGAAAAGGGAG GGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTGACAAGTGGGCAA GACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAATAACGGCCCCTA GTAATTACCTACTGCTATACAATGAACCACTTCAAAACTTAATGACTGGC CGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTGGGGGGCCAAGGT GGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGAAACACGGT GAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAAATTAGGCGGGTA TGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGACTAAGGTGAGAGG ATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCGAGATTGCGCCAC TGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTCAAAAACAACAAC AACAACAACAACAACAACAACAACCACAACTTAATGGTTGAAGAGCATGA GGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGGTGGTTCTTCTTG GGTCTTGCAGCTGCATCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0027 a0008c0019t0027	a0008c0019t0027g0007 a0008c0019t0027g0007	1	418	0.0024	2019	c.16 others(2028): Show c.168_*169insTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCT CTGCGAGCCTCCTGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAG GGCTGGAGGAGAATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCAC TCAAACATTATAAAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTT TTATTCCTCTGACCTTGAGTGACAGCACAAAAGAAGCCACCAGCTCCAGT CCCTTCTCCTACAAGACTCGTCATCTTGCACCCTGGATGTCCCAGGTCCT CCCTCTCCATGCTGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACC CTAGGTAGCTTCAAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGACAG AGGCACACAGAAACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCT ATATGACTGTGGGCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCC CACTGATTCTGAGTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATA AGGCGCCTCTTACTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAA AAAAGGGGGCTCCATAAATGCCAGTTCAACAAATGAGAGAATTATATTTT AGCATGCTTCTCTTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCC TTACCCTTGACCCCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAG AAGTTGAATGAGACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTG ATGCATCAACCCTAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGA AGCGGGGGTCAATTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGA AACCAGATGTGAGATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAG AGGGGAAAGACGGGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGT TAAGGCCGTGCATCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCA GGGTTTGTGACTCTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTG CCAGGAGGAGATCACACCCATAACCACAACACGGGGCACTTAGAGAAGTG TACATTTGGGTTTCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCC TGGGCAAGCCACATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATA CTATAGTATCCACCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTA TTCCATGTCCTTTGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAG GTGACAAAGTTGCCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTA GGCAGTATGATATAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTT TAGAAAAGGGAGGGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTG ACAAGTGGGCAAGACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAA TAACGGCCCCTAGTAATTACCTACTGCTATACAATGAACCACTTCAAAAC TTAATGACTGGCCGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTG GGGGGCCAAGGTGGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCT GGGAAACACGGTGAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAA ATTAGGCGGGTATGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGAC TAAGGTGAGAGGATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCG AGATTGCGCCACTGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTC AAAAACAACAACAACAACAACAACAACAACAACAACCACAACTTAATGGT TGAAGAGCATGAGGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGG TGGTTCTTCTTGGGTCTTGCAGCTGCATCCAGC	MOGAT2	ENSG00000166391.15	transcript	ENST00000198801.10	protein_coding	6/6	169	INFO_REALIGN_3_PRIME	chr11	TogoVar
MOGAT2_chr11_75712838_75737953	75731453	A A	ACTCTGGC others(2012): Show ACTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCTCTGCGAGCCTCC TGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAGGGCTGGAGGAGA ATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCACTCAAACATTATA AAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTTTTATTCCTCTGA CCTTGAGTGACAGCACAAAAGAAGCCACCAGCTCCAGTCCCTTCTCCTAC AAGACTCGTCTTCTTGCACCCTGGATGTCCCAGGTCCTCCCTCTCCATGC TGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACCCTAGGTAGCTTC AAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGCCAGAGGCACACAGAA ACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCTATATGACTGTGG GCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCCCACTGATTCTGA GTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATAAGGCGCCTCTTA CTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAAAAAAGGGGGCTC CATAAATTCCAGTTCAACAAATGAGAGAATTATATTTTAGCATGCTTCTC TTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCCTTACCCTTGACC CCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAGAAGTTGAATGAG ACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTGATGCATCAACCC TAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGAAGCGGGGGTCAA TTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGAAACCAGATGTGA GATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAGAGGGGAAAGACG GGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGTTAAGGCCGTGCA TCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCAGGGTTTGTGACT CTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTGCCAGGAGGAGAT CACACCCATAACCACAACACGGGGCACTTAGAGAAGTGTACATTTGGGTT TCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCCTGGGCAAGCCAC ATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATACTATAGTATCCA CCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTATTCCATGTCCTT TGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAGGTGACAAAGTTG CCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTAGGCAGTATGATA TAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTTTAGAAAAGGGAG GGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTGACAAGTGGGCAA GACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAATAACGGCCCATA GTAATTACCTACTGCTATACAATGAACCACTTCAAAACTTAATGACTGGC CGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTGGGGGGCCAAGGT GGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCTGGGAAACACGGT GAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAAATTAGGCGGGTA TGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGACTAAGGTGAGAGG ATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCGAGATTGCGCCAC TGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTCAAAAACAACAAC AACAACAACAACAACAACAACAACCACAACTTAATGGTTGAAGAGCATGA GGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGGTGGTTCTTCTTG GGTCTTGCAGCTGCATCCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02723.hp2 others(5): Show HG02145.hp1 HG02572.hp2 HG02723.hp2 HG02976.hp2 HG03041.hp2 HG03831.hp1 HG04115.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0030 a0001c0001t0003g0070 a0001c0001t0003g0085 others(4): Show a0001c0001t0003g0030 a0001c0001t0003g0070 a0001c0001t0003g0085 a0001c0001t0003g0119 a0001c0001t0003g0121 a0002c0002t0003g0171 a0002c0002t0003g0210	8	418	0.0191	2019	c.16 others(2028): Show c.168_*169insTCTGGCACTGCAATCTGCACTCCTGCTGCAAGACCT CTGCGAGCCTCCTGCTCCTTGGCTTCTGTCTGCTCATCAGTGGAATGGAG GGCTGGAGGAGAATGGTTTCTGAGGTCTCTGTTCTCTATTGTAATGTCAC TCAAACATTATAAAAGGAAATGCAGGGAAAAAAAGAGAACAGCAAGGTTT TTATTCCTCTGACCTTGAGTGACAGCACAAAAGAAGCCACCAGCTCCAGT CCCTTCTCCTACAAGACTCGTCTTCTTGCACCCTGGATGTCCCAGGTCCT CCCTCTCCATGCTGGAGAGGAGGGGTGGCCAGTAAACCCCTGCACTCACC CTAGGTAGCTTCAAGCTTCTGGGTTCTCTGGGTGATGGAGCGGCAGCCAG AGGCACACAGAAACTGGGTAGGGAGGACTGTGCTCTGTTACCGACTGGCT ATATGACTGTGGGCAGGCCTCTTTCCTCTCCTTCTGAGCCTCAGTTTTCC CACTGATTCTGAGTCTCAGCTCTGGCATTACATAGGCTGAGAACTCCATA AGGCGCCTCTTACTCACCCTTTGTAACTTCAGCCCCTGACCTTGCCACAA AAAAGGGGGCTCCATAAATTCCAGTTCAACAAATGAGAGAATTATATTTT AGCATGCTTCTCTTTCTTTCTACCCCCAACCAAGAGGGCTAGTCAAAGCC TTACCCTTGACCCCCCAGCCTGGCCCTGGGGCCTTATATCACCTTCCCAG AAGTTGAATGAGACTGAGCCAGAGAAGACCATGCTGGTCGCTTCTTCCTG ATGCATCAACCCTAAGCTTACCACCTCTGGCCCCATTCTGTTGGGAAAGA AGCGGGGGTCAATTTGTTAAGACACAGGGCAGGCCAGCACAGATAATGGA AACCAGATGTGAGATGTGTGCATGTGTCTGCAGGGGTGTTGGGAGTGCAG AGGGGAAAGACGGGGACAGACACCCTGACCAGAGTTCTAGATTCCTGGGT TAAGGCCGTGCATCAGTAGGGAGGGAACAGAGGGTGGGTGGGTTGGACCA GGGTTTGTGACTCTCCCTCACCCTCTAGTGGGGAAACAGACCCTTCCCTG CCAGGAGGAGATCACACCCATAACCACAACACGGGGCACTTAGAGAAGTG TACATTTGGGTTTCAATCCTGGCTCTGGCTCTGCCCCTTTTCAGTGATCC TGGGCAAGCCACATCTCCAAACCTCGATTTTGTCATTTGAGAAATAAATA CTATAGTATCCACCTTCAGTGTTGTGAACAGTTCATGAGATAACAAGCTA TTCCATGTCCTTTGTGGCATGATGTGCAGTATGTGTGAATTAGAAGCCAG GTGACAAAGTTGCCCAGTGTCTCATGAAAGTGCCTCTTATTATCCTATTA GGCAGTATGATATAAGGGTCACAAGAGGAGCAGGAAGAAGCAGTGGAGTT TAGAAAAGGGAGGGATGATTTACAGCCGAGGGGAGGACTTGGAGGAGGTG ACAAGTGGGCAAGACCTTGAAGGAAGGGGGAGATTTGCAAAGAAGATAAA TAACGGCCCATAGTAATTACCTACTGCTATACAATGAACCACTTCAAAAC TTAATGACTGGCCGGGCATGGTGGCTCATATCTGTAATCCCAGCACTTTG GGGGGCCAAGGTGGGTGGATCGCTTGAGCTCAAGAGTTTGAGACCAGCCT GGGAAACACGGTGAAACCCCGTCTCTACAAAAAGAGAAATACATACAAAA ATTAGGCGGGTATGGTGGCTTGTGCCTGTAGTCCCAGATACTTAGAGGAC TAAGGTGAGAGGATTATTTGAGCCCAAGTTGCGGAGGTTGCAGTGACCCG AGATTGCGCCACTGTACTCCAGCCTGGGCAACAGAATGAAACCCTGTCTC AAAAACAACAACAACAACAACAACAACAACAACAACCACAACTTAATGGT TGAAGAGCATGAGGATTTATTACTTCTCACAATTCTGTGGATTTTCTGGG TGGTTCTTCTTGGGTCTTGCAGCTGCATCCAGC	MOGAT2	ENSG00000166391.15	transcript	ENST00000198801.10	protein_coding	6/6	169	INFO_REALIGN_3_PRIME	chr11	TogoVar
PDGFA_chr7_492258_524846	494554	G G	GAATCCGT others(2012): Show GAATCCGTGAGGGGGATGGAGGGGATCCGTGAGGGGACGGGGGATCTGTG AGGGGACGGGGGATCCGTGAGGGGGACGGGGGATCTGTGAGGGGACGGGG GATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGACGGGGGATCTGTGAG GGGACGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGACGGG GGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGACGGGGGATCTGT GAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGG GATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGG GGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCTGT GAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGG GATGGAGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGG GGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCC GTGAGGGGATGGGGGATCTGTGAGGGGGACGGGGGATCCGTGAGGGGACG GGGGATCTGTGAGGGGGACGGGGGATCCGTGAGGGGACGGGGGATCTGTG AGGGGGATGGAGGGGATCTGTGAGGGGGACGGGGGATCTGTGAGGGGGAT GGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGA TCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTG AGGGGGATGGAGGGGATCCGTGAGGGGATGGGGGATCTGTGAGGGGGACG GGGGATCCGTGAGGGGACGGGGGATCTGTGAGGGGGACGGGGGATCCGTG AGGGGACGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGACG GGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGAT CTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGACGGGGGATCCGTGAGG GGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGA GGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCC GTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGG GATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGG GGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCT GTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGG GATGGAGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGAGG GGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGATCTGT GAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGG GATGGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGG ATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGT GAGGGGGATGGGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGGA TGGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGAGGGG ATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGATGGAGGGGATCCGTGA GGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGGGGGATG GAGGGGATCTGTGAGGGGGATGGGGGATCTGTGAGGGGGATGGAGGGGAT CTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCCGTGAGG GGGATGGAGGGGATCTGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATG GGGGATCCGTGAGGGGGATGGAGGGGATCTGTGAGGGGGATGGGGGATCT GTGAGGGGGATGGAGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	302	0.0033	2019	c.40 others(2030): Show c.4009_*4010insATCCCCTCCATCCCCCTCACAGATCCCCCATCCC CCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCATCCCCCTCACAG ATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCC CATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCC CCTCACAGATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACGG ATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCTC CATCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCC TCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGAT CCCCTCCATCCCCCTCACGGATCCCCCATCCCCCTCACAGATCCCCTCCA TCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCTC ACAGATCCCCTCCATCCCCCTCACGGATCCCCCATCCCCCTCACAGATCC CCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCA TCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTC ACGGATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCC CCTCCATCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCTCCATC CCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCATCCCCCTCAC AGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCC CCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCATCCC CCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCAC AGATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCC CGTCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCC CCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCGTCCCCCTCACAG ATCCCCTCCATCCCCCTCACAGATCCCCCGTCCCCTCACGGATCCCCCGT CCCCCTCACAGATCCCCCGTCCCCTCACGGATCCCCCGTCCCCCTCACAG ATCCCCCATCCCCTCACGGATCCCCTCCATCCCCCTCACAGATCCCCTCC ATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATCCCCCT CACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGA TCCCCCGTCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCGT CCCCTCACGGATCCCCCGTCCCCCTCACAGATCCCCCGTCCCCTCACGGA TCCCCCGTCCCCCTCACAGATCCCCCATCCCCTCACGGATCCCCTCCATC CCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTC ACAGATCCCCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCC CCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCATC CCCCTCACAGATCCCCTCCATCCCCCTCACGGATCCCCCATCCCCCTCAC AGATCCCCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCC CCTCCATCCCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCGTC CCCCTCACAGATCCCCTCCATCCCCCTCACAGATCCCCCGTCCCCCTCAC AGATCCCCTCCATCCCCCTCACAGATCCCCCGTCCCCTCACAGATCCCCC GTCCCCCTCACAGATCCCCCATCCCCCTCACAGATCCCCCGTCCCCTCAC AGATCCCCCGTCCCCCTCACGGATCCCCCGTCCCCTCACAGATCCCCCGT CCCCTCACGGATCCCCTCCATCCCCCTCACGGATT	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding		2703		chr7	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(2012): Show AGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGG TGGGGAGGGGAGGAAAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGG AGGAAAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAAAAGGG TGGGGAGGGGAGGAAAAGGGTGGGGAGGGGAGGAAAAGGGTGGGGAGGGG AGGAGAAGGGTGGGGAGGGGAGGAAAAGGGTGGGGAGGGGGGGAGAAGGG TGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAAAAGGGTGGGGAGGGGG GGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAAAAGGGTG GGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGG AGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGG GAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGAGAAG GGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGG AGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTG GGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGA GAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGG AGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAG GGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGG GGAGGAGAAGGGTGGGGAGCGGGGGAGAAGTGTGGGGAGGGGAGGAAAAG GGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGG GGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTG GGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGG AGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGG GAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAA GTGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGG GGGGAGAAGGGTGGGGAGGGGGGGAGAAGTGTGGGGAGGGGGGGAGAAGG GTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAAAAGGGTGGGGAGGG GGGAGAAGTGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGG TGGGGAGGGGGAGAAGGGTGGGGAGGGAGGAGAAGGGTGGGGAGGGGGGA GAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGA GGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAG GGTGGGGAGGGGGGAGAAGGGTGGGGAGGGAGGAGAAGGGTGGGGAGGGG AGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGT GGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGG GAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGAGGAGAAGGGTGGG GAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAA AAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGG AGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAA GGGTGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGG GGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGGAGAAGGGT GGGGAGGGGAGGAGAAGTGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGG GGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGAGAAGGGTGGG GAAGGGGGAGAAGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	126	0.0079	2019	c.-28 others(2038): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCT CCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCTCCCCTCCCCACCCTT CTCCCCCCCTCCCCACACTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCC CCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCACCCTTCTCC CCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCAC CCTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTTTCCTC CCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACC CTTCTCCTCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCT CCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTT CTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTC CCCACCCTTCTCCTCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTC CCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCA CCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCC CTCCCCACCCTTCTCCTCCCTCCCCACCCTTCTCCCCCTCCCCACCCTTC TCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCCCCCTCC CCACCCTTTTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCT CCCCCCCTCCCCACACTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCC CACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCC CCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACC CTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCC TCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCT TCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCTC CCCACACTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTTTC CTCCCCTCCCCACACTTCTCCCCCGCTCCCCACCCTTCTCCTCCCCTCCC CACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTC CCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCAC CCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCC CTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCT TCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTC CCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTC CCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACC CTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCC TCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCT TTTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCT CCCCACCCTTTTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTC TCCCCCCCTCCCCACCCTTTTCCTCCCCTCCCCACCCTTCTCCTCCCCTC CCCACCCTTTTCCTCCCCTCCCCACCCTTTTCCTCCCCTCCCCACCCTTT TCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTTTCCTCCCCTC CCCACCCTTCTCCTCCCCTCCCCACCCTTTTCCTCCCCTCCCCACCCTTC TCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
CELSR1_chr22_46356174_46542620	46469974	A A	AGGGAGGA others(2013): Show AGGGAGGAGGAGGGGAGGGAGGGAGGATGAGGGGAGGGAGGGAGGAGGAG GGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGAGGACGGGAGGGAGGGA GGAGGAGGAGGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGAGGAGGG GAGGGAGGAGAGGGGAGGGAGGGAGGATGAGGGGAGGGAGGGAGGAGGAG GGGAGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGGAGGAAGAGGGGA AGGAGGGAGGAGGAGGGGAGGGAGGGAGGAGGAGGGGAGGGAGGAGAGGG GAGGGAGGGAGGAGGAGGGGAGGGAGGAGAGGGGAGGGAGGGAGGATGAG GGGAGGGAGGGAGGAGGGGAGGGAGGGAGGGAGGAGGAGGGGAGGGAGGG AGGGAGGATGAGGGGAGGGAGGGAAGGAGGATGAGGGGAGGGAGGGAAGG AGGATGAGGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGGAGGAGGAG GGGAGGGAGGGATGGAGGAGGAGGAGGGGAAGGAGGGAGGAGGAGGGGAG GGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGGAGGGAGGATGAGGGGAG GGAGGGAGGAGGAGGGAGGGAGGGAGGAAGAGGGGAGGGAGGGAGGGAGG AGGAGGGGAGGGAGGAGGAGGGGAGGGAGGGAGGAGGAGGGGAGGGAGGG AGGGAGGAGGAGGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGGAGGA GGAGGGGAGGGAGGGAGGAGAAGGGGAGGGAGGAGGGAGGAGGAGGGGAG GGAGGATGAGGGGAGGGAGGGAGGATGAGGGGAGGGAGGGAGGGAGGATG AGGGGAGGAAGGGAGGAGGAGGGGAGGGAGGAGGGAGGAGGAGGGGAGGG AGGATGAGGGGAGGGAGGGAGGGAGGATGAGGGGAGGGAGGGAGGGAGGA TGAGGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGGGGAGAAGGAGGGGAG GGAGGATGAGGGGAGGGAGGGAGGGAGGATGAGGGGAGGGAGGGAGGAGG AGGGGAGGGAGGAGGGAGAAGGAGGGGAGGGAGGATGAGGGGAGGGAGGG AAGGAGGATGAGGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGGAGGA GGAGGGGAGGGAGGGATGGAGGAGGAGGAGGGGATGGAGGAGGAGGAGGG GAGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGGGGAGGGGAGGGAGG GAGGGGGATGGGAGGGAGGGAGGGAGGAGGGAGGGGAGGGAGGGAGGAGG AGAGGAGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGAGAGGGGAGGG AGGGAGGGAGGATGAGGGGAGGGAGGGAGGATGAGGGGAAGGAGGGAGGA GGAGGGGAGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGGAGGAGGAG GGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGGAGGAGGGGAGGGAGGG AGGGAGGGAGGAGGGGAGGGAGGGAAGGAGGATGAGGGGAGGGAGGGAAG GAGGATGAGGGGAGGGAGGGAGGATGAGGGGAGGGAGGGAGGATGAGGGG AGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGAGGAGGGGAGGGAGGG AGGAGGAGGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGAGGAGGGGA AGGAGGGAGGAGGAGGGGAGGGAGGAGGAGGGGAGGGAGGGAGGGAGGAG GAGGGGAGGGAGGGAGGATGAGGGGAGGGAGGGAGGAGGAGGAGAAGGAG GGAGGAGGAGGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGAGGACGAGGG GAGGGAGGGAGGATGAGGGGAGGGAGGGAGGAGGAGGGGAAGGAGGGAGG AGGAGGGGAAGGAGGGAGGAGGAGGGGAGAGAGGGAGGGAGGAGGAGGGG AGAGAGGGAGGGAGGAGGAGGGAGGGAGGGAGGAGGAGGGGAGGGAGGGG GGAGGAGGAGGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0002 a0017c0020t0002	a0017c0020t0002g0020 a0017c0020t0002g0020	1	104	0.0096	2020	c.354 others(2039): Show c.3545-5630_3545-5629insCCCTCCCTCCCCTCCTCCTCCCCCCT CCCTCCCCTCCTCCTCCCTCCCTCCCTCCTCCTCCCTCCCTCTCTCCCCT CCTCCTCCCTCCCTCTCTCCCCTCCTCCTCCCTCCTTCCCCTCCTCCTCC CTCCTTCCCCTCCTCCTCCCTCCCTCCCCTCATCCTCCCTCCCTCCCCTC GTCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTCCTCCTCCCTCCT TCTCCTCCTCCTCCCTCCCTCCCCTCATCCTCCCTCCCTCCCCTCCTCCT CCCTCCCTCCCTCCCCTCCTCCTCCCTCCCCTCCTCCTCCCTCCTTCCCC TCCTCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTCCTCCTCCCTC CCTCCCCTCCTCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCTCCCCT CATCCTCCCTCCCTCCCCTCATCCTCCCTCCCTCCCCTCATCCTCCTTCC CTCCCTCCCCTCATCCTCCTTCCCTCCCTCCCCTCCTCCCTCCCTCCCTC CCTCCCCTCCTCCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTCCT CCTCCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCTCCCCTCCTCCTC CCTCCTTCCCCTCATCCTCCCTCCCTCCCCTCATCCTCCCTCCCTCCCTC CCCTCTCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCTCCTCTCCTCC TCCCTCCCTCCCCTCCCTCCTCCCTCCCTCCCTCCCATCCCCCTCCCTCC CTCCCCTCCCCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCTCCCCTC CTCCTCCTCCATCCCCTCCTCCTCCTCCATCCCTCCCTCCCCTCCTCCTC CCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTCATCCTCCTTCCCTC CCTCCCCTCATCCTCCCTCCCCTCCTTCTCCCTCCTCCCTCCCCTCCTCC TCCCTCCCTCCCCTCATCCTCCCTCCCTCCCTCCCCTCATCCTCCCTCCC CTCCTTCTCCCCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTCATCCTC CCTCCCTCCCTCCCCTCATCCTCCCTCCCTCCCTCCCCTCATCCTCCCTC CCCTCCTCCTCCCTCCTCCCTCCCCTCCTCCTCCCTTCCTCCCCTCATCC TCCCTCCCTCCCTCCCCTCATCCTCCCTCCCTCCCCTCATCCTCCCTCCC CTCCTCCTCCCTCCTCCCTCCCCTTCTCCTCCCTCCCTCCCCTCCTCCTC CCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTC CCTCCCCTCCTCCTCCCTCCCTCCCCTCCTCCTCCCTCCCCTCCTCCTCC CTCCCTCCCTCCCCTCTTCCTCCCTCCCTCCCTCCTCCTCCCTCCCTCCC CTCATCCTCCCTCCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCTCCC CTCCTCCTCCCTCCTTCCCCTCCTCCTCCTCCATCCCTCCCTCCCCTCCT CCTCCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTCATCCTCCTTC CCTCCCTCCCCTCATCCTCCTTCCCTCCCTCCCCTCATCCTCCCTCCCTC CCTCCCCTCCTCCTCCCTCCCTCCCTCCCCTCCTCCCTCCCTCCCCTCAT CCTCCCTCCCTCCCCTCTCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTC TCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTCCTCCTCCCTCCTTCCCC TCTTCCTCCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCTCCCCTCCT CCTCCCTCCCTCCCCTCATCCTCCCTCCCTCCCCTCTCCTCCCTCCCCTC CTCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTCCTCCTCCTCCCT CCCTCCCGTCCTCCTCCCTCCCTCCCCTCCTCCTCCCTCCCTCCCCTCCT CCTCCCTCCCTCCCCTCATCCTCCCTCCCTCCCCTCCTCCTCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2013): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAACCTC TGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGG GATTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAG AGACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTA AGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAG CCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCACTC TCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCCT CCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGC CAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCAC CCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTAC AGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAG GGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGAT CCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTG CACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATA CGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAG GTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCT GGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT GGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCA ACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTA GCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTT TTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGG GCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGG AGTCCGAGTCGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGG CCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGG TGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGG CAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATC ATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAA AAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAA TCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGG AGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTC TCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAA CCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAG CTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTA GCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGC CTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0104 a0003c0009t0002g0104	1	159	0.0063	2020	c.-90 others(2035): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTCTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCC AGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTCTCACTGCAACCTCTG CCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGGGA TTAGAGGCGCTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGAG ACGGGGTTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAAG TGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCC ACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTT GCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCACTCTC ACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCCTCC TGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCA AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCC AGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAG GCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGG TTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCC ACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCA CCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACG TGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGT TTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGG CTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGG CTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAAC CTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGC TGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTT AGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGC AGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAG TCCGAGTCGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGGCC AACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTG TAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCAT GCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAA AAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAATC TGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGAG ATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCTC TCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACC TCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGCT GGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTAGC AGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCCT CAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2013): Show CGGCCTCCCAAAGTGCTGGGCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCC AGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTCTG CCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCAAGTCACTGGGA TTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGAG ACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAAG TGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCC ACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCA GTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCA CTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAG CCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATT TTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCAGG TTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGGCA CCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTT CACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCACC TGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCACCC AGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGTGT AAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTTTC ATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGCTC AGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGC TCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACC TCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCT GGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTA GTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCA GAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGT CCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCA ACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGT AGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATG CCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAA AAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAA TCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGG AGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTC TCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAA CCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAG CTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTA GCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGC CTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp1 HG02922.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0002g0061 a0001c0001t0001g0060 a0001c0001t0002g0061	2	159	0.0126	2020	c.-90 others(2035): Show c.-90-160_-90-159insCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCC AGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTCTG CCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCAAGTCACTGGGA TTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGAG ACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAAG TGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCC ACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCA GTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCA CTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAG CCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATT TTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCAGG TTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGGCA CCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTT CACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCACC TGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCACCC AGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGTGT AAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTTTC ATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGCTC AGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGC TCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACC TCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCT GGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTA GTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCA GAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGT CCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCA ACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGT AGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATG CCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAA AAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAA TCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGG AGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTC TCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAA CCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAG CTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTA GCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGC CTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2013): Show CGGCCTCCCAAAGTGCTGGGCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTC TGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGG GATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAG AGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTA AGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAG CCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATC CAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCT CACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTC AGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCA TTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCA GGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGG CACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGT TTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCA CCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCAC CCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGT GTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTT TCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGC TCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGC TCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACC TCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCT GGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTA GTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCA GAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGT CCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCA ACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGT AGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATG CCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAA AAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAA TCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGG AGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTC TCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAA CCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAG CTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTA GCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGC CTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	159	0.0063	2020	c.-90 others(2035): Show c.-90-160_-90-159insCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTC TGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGG GATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAG AGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTA AGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAG CCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATC CAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCT CACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTC AGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCA TTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCA GGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGG CACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGT TTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCA CCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCAC CCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGT GTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTT TCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGC TCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGC TCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACC TCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCT GGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTTA GTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATG AGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGCA GAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGT CCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCA ACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGT AGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATG CCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAA AAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAA TCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGG AGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTC TCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAA CCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAG CTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTA GCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGC CTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DEAF1_chr11_639233_700222	642854	A A	ACAGGCGG others(2013): Show ACAGGCGGGGTGAGGGGCAGGTGGGGTGAGGGCCAGGCGGGGTGAGGGTC AGAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGG ACAGGCGGGCTGAGGGTCACAGGAAGAGCCAGGCGGGCTGAGGGTCAGAG GAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGG TCACAGGAAGAGCCAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGC TGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACAG GCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAG GGACAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGCTGAGGGTCAG AGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGCTGAG GGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGG GCTGAGGGTCACAGGAAGAGCCAGGCGGGCTGAGGGTCAGAGGAAGGGAC AGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGA AGAGCCAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGCTGAGGGTC AGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGCTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGC GGGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGACACAGGAAGGG ACAGGCGGGCTGAGGGTCACAGGAAGAGCCAGGCGGGCTGAGGGTCAGAG GAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGG TGAGGGACACAGGAAGGGACAGGCGGGGTGAGGGACACAGGAAGGGACAG GCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAG GGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAG AGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGACAGGCGGGCTGAG GGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGG GGTGAGGGTCACAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGAC AGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGA AGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGAC ACAGGAAGGGACAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGGTG AGGGTCAGAGGAAGGGACAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGC GGGGTGAGGGACACAGGAAGGGACAGGCGGGCTGAGGGTCAGAGGAAGGG CCAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGTGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGCTGAGGGTCAGAGGAAGGGACAGGCGGGG TGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGACAG GCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAG GGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACAC AGGAAGGGCCAGGCGGGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAG GGTCACAGGAAGGGACAGGCGGGATAATGGTCAGAGGAAGGGCCAGGCGG GGTGAGGGTCAGAGGAAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	345	0.0029	2020	c.16 others(2031): Show c.1695_*1696insGCCCTTCCTCTGACCCTCACCCCGCCTGGCCCTT CCTCTGACCATTATCCCGCCTGTCCCTTCCTGTGACCCTCACCCCGCCTG TCCCTTCCTCTGACCCTCAGCCCGCCTGGCCCTTCCTGTGTCCCTCACCC CGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTGTGACCC TCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTC TGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCC TTCCTCTGACCCTCAGCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCC TGGCCCTTCCTCTGACCCTCACCCCACCTGGCCCTTCCTCTGACCCTCAC CCCGCCTGTCCCTTCCTGTGTCCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGTCCCTTCCTGTGTCCCTCACCCCGCCTGGCCCTTCC TCTGACCCTCAGCCCGCCTGTCCCTTCCTCTGACCCTCACCCCGCCTGTC CCTTCCTGTGTCCCTCACCCCGCCTGTCCCTTCCTGTGTCCCTCACCCCG CCTGTCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTGTGACCCTC ACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTCTG ACCCTCACCCCGCCTGTCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTT CCTCTGACCCTCACCCCGCCTGTCCCTTCCTCTGACCCTCAGCCCGCCTG TCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCC CGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTGTGACCC TCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTG TGTCCCTCACCCCGCCTGTCCCTTCCTGTGTCCCTCACCCCGCCTGTCCC TTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCC TGTCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTCTGACCCTCAG CCCGCCTGGCTCTTCCTGTGACCCTCAGCCCGCCTGTCCCTTCCTGTGTC CCTCACCCCGCCTGTCCCTTCCTCTGACCCTCAGCCCGCCTGTCCCTTCC TGTGTCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTGTC CCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTCTGACCCTCAGCCCG CCTGTCCCTTCCTCTGACCCTCACCCCGCCTGGCTCTTCCTGTGACCCTC ACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTCTG ACCCTCAGCCCGCCTGGCTCTTCCTGTGACCCTCAGCCCGCCTGTCCCTT CCTGTGTCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTG TCCCTTCCTGTGTCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCC CGCCTGGCCCTTCCTGTGACCCTCAGCCCGCCTGTCCCTTCCTGTGTCCC TCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTGTCCCTTCCTC TGACCCTCACCCCGCCTGTCCCTTCCTCTGACCCTCAGCCCGCCTGTCCC TTCCTCTGACCCTCACCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCC TGGCCCTTCCTCTGACCCTCACCCCGCCTGTCCCTTCCTCTGACCCTCAG CCCGCCTGGCTCTTCCTGTGACCCTCAGCCCGCCTGTCCCTTCCTGTGTC CCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTGTCCCTTCC TGTGTCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGC CCTTCCTGTGACCCTCAGCCCGCCTGGCCCTTCCTCTGACCCTCACCCCG CCTGGCCCTCACCCCACCTGCCCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1378		chr11	TogoVar
DNAH10_chr12_123757301_123940714	123911541	C C	CTGTCCTG others(2013): Show CTGTCCTGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCCA GGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGA CTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTC CTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGG GGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGGT CTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGT CCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGG GGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG GTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTGTC CTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAG GGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTC TGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTCCTGGGGGAGTCTGT CCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGG GGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGG AGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTCTG TCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCT GGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGGGGAGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGCG TCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTC TGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCC TGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGG GGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGT CTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGT CCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG GGGGGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGTTCTGTCCTGGGGGGG TCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGT CCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTC CTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCT GGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGG GGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTC TGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTCCTGGGGGGGGGTCTG TCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCC TGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGGTCTGTCCTGGGGGGCCTGTCCTGGGGGGGGGTCTGTCCTGGGGGA GGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGAGTC TGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCC TGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGG GGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGT TTGTCCTGGGAGGGGTCTGTCCTGGGGGTTCTGTCCTGGGGGTTCTGTCC TGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGGTCTGTCCTGGG GGGGGTCTGTCCTGGGGGGTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0049 a0001c0003t0002g0049	1	170	0.0059	2020	c.101 others(2039): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGG GGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCC TGGGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGG GGGGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTC TGTCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTC CTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGG GGGTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGG GTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGT CCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGG GGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGT CTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGGGTCTGT CCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCC TGGGGGGTCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTT GTCCTGGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTC CTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGAGGGGTCTGTCCTGGGGGTT CTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCC TGGGAGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGG GGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG TCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTC TGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTCC TGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGG GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGCCTGTCCTGGGGGGGGG TCTGTCCTGGGGGAGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCT GTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTG GGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGAGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGT CTGTCCTGGGGGGTTTGTCCTGGGAGGGGTCTGTCCTGGGGGTTCTGTCC TGGGGGTTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGG GGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRD4_chr11_632269_645706	642854	A A	ACAGGCGG others(2013): Show ACAGGCGGGGTGAGGGGCAGGTGGGGTGAGGGCCAGGCGGGGTGAGGGTC AGAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGG ACAGGCGGGCTGAGGGTCACAGGAAGAGCCAGGCGGGCTGAGGGTCAGAG GAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGG TCACAGGAAGAGCCAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGC TGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACAG GCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAG GGACAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGCTGAGGGTCAG AGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGCTGAG GGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGG GCTGAGGGTCACAGGAAGAGCCAGGCGGGCTGAGGGTCAGAGGAAGGGAC AGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGA AGAGCCAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGCTGAGGGTC AGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGCTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGC GGGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGACACAGGAAGGG ACAGGCGGGCTGAGGGTCACAGGAAGAGCCAGGCGGGCTGAGGGTCAGAG GAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGG TGAGGGACACAGGAAGGGACAGGCGGGGTGAGGGACACAGGAAGGGACAG GCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAG GGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAG AGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGACAGGCGGGCTGAG GGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGG GGTGAGGGTCACAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGAC AGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGA AGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGAC ACAGGAAGGGACAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGGTG AGGGTCAGAGGAAGGGACAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGC GGGGTGAGGGACACAGGAAGGGACAGGCGGGCTGAGGGTCAGAGGAAGGG CCAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGTGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGCTGAGGGTCAGAGGAAGGGACAGGCGGGG TGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGACAG GCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAG GGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACAC AGGAAGGGCCAGGCGGGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAG GGTCACAGGAAGGGACAGGCGGGATAATGGTCAGAGGAAGGGCCAGGCGG GGTGAGGGTCAGAGGAAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0014 a0005c0005t0001g0014	1	421	0.0024	2020	c.22 others(2031): Show c.2251_*2252insCAGGCGGGGTGAGGGGCAGGTGGGGTGAGGGCCA GGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAA GGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACA CAGGAAGGGACAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGA GGGACACAGGAAGGGACAGGCGGGCTGAGGGTCACAGGAAGAGCCAGGCG GGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGC CAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGGTCAGAGG AAGGGACAGGCGGGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGT CAGAGGAAGGGACAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGT GAGGGACACAGGAAGGGACAGGCGGGCTGAGGGTCACAGGAAGGGCCAGG CGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGG GACAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACA GGAAGGGACAGGCGGGCTGAGGGTCACAGGAAGAGCCAGGCGGGCTGAGG GTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGG GTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGGTCAGAGGAAGGGACA GGCGGGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAA GGGACAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACA CAGGAAGGGACAGGCGGGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGA GGGACACAGGAAGGGACAGGCGGGCTGAGGGTCACAGGAAGAGCCAGGCG GGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGA CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGG AAGGGACAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGGTGAGGGA CACAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGT GAGGGTCACAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGG GACAGGCGGGCTGAGGGTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGA GGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGACAGGCGGGGTGAGG GTCAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGG GTGAGGGTCACAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACA GGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGGTGAGGGACACAGGAA GGGACAGGCGGGGTGAGGGTCAGAGGAAGGGACAGGCGGGCTGAGGGTCA GAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGCGGGCTGA GGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACACAGGAAGGGACAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGTGGGGTGAGGGTCAGAGGAAGGGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGCTGAGGGTCAGAGG AAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGT CAGAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGT GAGGGTCACAGGAAGGGACAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGACACAGGAAGGGCCAGGCGGGCTGAGGGTCAGAGGAAGG GACAGGCGGGGTGAGGGTCACAGGAAGGGACAGGCGGGATAATGGTCAGA GGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGC	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding		2149		chr11	TogoVar
KIF25_chr6_167992671_168050091	167997496	A A	ATCTGCAG others(2013): Show ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCT GCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAG ATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGA TGGGGTCGGGGGAATCTGCAGAGATGGGGGTGGGGGAATCTGCAGAGGTG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGG GTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGG GGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGGTGGG GGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGG GAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGG AATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0342 a0003c0004t0005g0342	1	375	0.0027	2020	c.-19 others(2031): Show c.-1973_-1972insTCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTG GGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCG GGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTG CAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGTGGGG GAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAAT CTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCA GAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCA GAGATGGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAG AGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAG AGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		174		chr6	TogoVar
PRR20G_chr3_127278783_127293046	127289915	T T	TATATATA others(2013): Show TATATATATATATATATATATATACATATATATATACATATTTATATATT TTATATATAGTTATATAACTATATATTTTATATATAGTTATATAACTATA TATTTTATATATAGTTATATAACTATATATTTTATATATAGTTATATAAC TATATATTTTATATATAGTTATATAACTATATATTTTATATATAGTTATA TAACTATATATTTTATATATAGTTATATAACTATATATTTTATATATAGT TATATAACTATATATTTTATATATAGTTATATAACTATATATTTTATATA TAGTTATATAACTATATATTTTATATATAGTTATATAACTATATATTTTA TATATAGTTATATAACTATATATTTTATATATAGTTATATAACTATATAT TTTATATATAGTTATATAACTATATATTTTATATATAGTTATATAACTAT ATATTTTATATATAGTTATATAAAATATATTTTATATAGTTATATAAATA TATATTTTATATAGTTATATTAATATATATTTTATATATATTTATATATA TTTTATATATATTTATATACTATATATTTTATATATAGTATATAAATATA TATTTTATATATAGTTATATAAATATATATTTATATATAGTTATATAAAT ATATATTTATATATAGTTATATAAATATATATTTTATATTTATATATATT TTAATATATTTTATATTTATATATATTTTAATATATTATATATTTATATA TAATATATTTTAATATATTATACATTTATATAAAATATATTTCAATATAT TATACATTTATATAAAATATATTTCAATATATTATACATTTATATAAAAT ATATTTCAATATATTATACATTTATATAAAATATATTTCAATATATTATA CATTTATGTAAAATATATTTCAATATATTATATATTTATGTATAGTTTAA TATATTATATATTTATGTATAGTTTAATATATTATATATTTATGTATATT TTAATATATTATATATTTATGTATATTTTAATATATTATATATTTATGTA TATTTTAATATATTATATATTTATGTATAATATATTTTAATATATTATAT ATTTATGTATATTTTAATATATTATATATTTATGTATATTTTAATATATT ATATATTTATGTATAATATATTTTAATATATTATATATTTATGTATATTT TAATATATTATATATTTATGTATATTTTAATATATTATATATTTATGTAT AATATATTTTAATATATTATATATTTATGTGTAATATATTTTAATATATT ATATATTTATGTATAATATATTTTAATATATTATATATTTATGTATTATA TATTAATATATTATATATTTATGTATTATATATTTTAATAGATTATATAT TTATGTATTATATTTAATATATTATATATTTATGTATTATATATTTAAGA TATTATATATTTATGTATTATATATTTTAATATATTATATATTTATGTAT TATATATTTTAATATATTATATATTGTATATATTATATATTTTAATATAT TATATATTGTATATATTATATATTTTAATATATTATATATTGTATATATT ATATATATTTATATATTACATTACTTATACACTATATATATGTGTGTGTG TATGTATATATATATATATACATACACACACACACATATATATAGTGTAT AAGTAATGTAATTCCAGTTAGGCTCTCAATTTGTTTGTTGTTGTTGCTTT TGTTTTTAAAAAAATCAACTTCATTGAGGTACAATTTACACACAGTAAAA TGCATCCATTTGAAGTACCCAATTTGATGAGTTTTGATAAACTTGTAGAC TTGGGTAACCACTCCCACAGTTAAAATACAGAATAATTTCATCACTGGGC CAGCTCCCTTGCGTCCTTTAGCGGTCAGCCCCCTTCCCCTATCCTCTGCC CCAGCAACCACTGATCTGCTTTTTATCTCTACAGATTATTTTTGCTTGTT CTAGGATTTCACATAAATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	432	0.0023	2020	c.-20 others(2031): Show c.-2045_-2044insTCCATTTATGTGAAATCCTAGAACAAGCAAAAAT AATCTGTAGAGATAAAAAGCAGATCAGTGGTTGCTGGGGCAGAGGATAGG GGAAGGGGGCTGACCGCTAAAGGACGCAAGGGAGCTGGCCCAGTGATGAA ATTATTCTGTATTTTAACTGTGGGAGTGGTTACCCAAGTCTACAAGTTTA TCAAAACTCATCAAATTGGGTACTTCAAATGGATGCATTTTACTGTGTGT AAATTGTACCTCAATGAAGTTGATTTTTTTAAAAACAAAAGCAACAACAA CAAACAAATTGAGAGCCTAACTGGAATTACATTACTTATACACTATATAT ATGTGTGTGTGTGTATGTATATATATATATATACATACACACACACATAT ATATAGTGTATAAGTAATGTAATATATAAATATATATAATATATACAATA TATAATATATTAAAATATATAATATATACAATATATAATATATTAAAATA TATAATATATACAATATATAATATATTAAAATATATAATACATAAATATA TAATATATTAAAATATATAATACATAAATATATAATATCTTAAATATATA ATACATAAATATATAATATATTAAATATAATACATAAATATATAATCTAT TAAAATATATAATACATAAATATATAATATATTAATATATAATACATAAA TATATAATATATTAAAATATATTATACATAAATATATAATATATTAAAAT ATATTACACATAAATATATAATATATTAAAATATATTATACATAAATATA TAATATATTAAAATATACATAAATATATAATATATTAAAATATACATAAA TATATAATATATTAAAATATATTATACATAAATATATAATATATTAAAAT ATACATAAATATATAATATATTAAAATATACATAAATATATAATATATTA AAATATATTATACATAAATATATAATATATTAAAATATACATAAATATAT AATATATTAAAATATACATAAATATATAATATATTAAAATATACATAAAT ATATAATATATTAAACTATACATAAATATATAATATATTAAACTATACAT AAATATATAATATATTGAAATATATTTTACATAAATGTATAATATATTGA AATATATTTTATATAAATGTATAATATATTGAAATATATTTTATATAAAT GTATAATATATTGAAATATATTTTATATAAATGTATAATATATTGAAATA TATTTTATATAAATGTATAATATATTAAAATATATTATATATAAATATAT AATATATTAAAATATATATAAATATAAAATATATTAAAATATATATAAAT ATAAAATATATATTTATATAACTATATATAAATATATATTTATATAACTA TATATAAATATATATTTATATAACTATATATAAAATATATATTTATATAC TATATATAAAATATATAGTATATAAATATATATAAAATATATATAAATAT ATATAAAATATATATTAATATAACTATATAAAATATATATTTATATAACT ATATAAAATATATTTTATATAACTATATATAAAATATATAGTTATATAAC TATATATAAAATATATAGTTATATAACTATATATAAAATATATAGTTATA TAACTATATATAAAATATATAGTTATATAACTATATATAAAATATATAGT TATATAACTATATATAAAATATATAGTTATATAACTATATATAAAATATA TAGTTATATAACTATATATAAAATATATAGTTATATAACTATATATAAAA TATATAGTTATATAACTATATATAAAATATATAGTTATATAACTATATAT AAAATATATAGTTATATAACTATATATAAAATATATAGTTATATAACTAT ATATAAAATATATAGTTATATAACTATATATAAAATATATAGTTATATAA CTATATATAAAATATATAGTTATATAACTATATATAAAATATATAAATAT GTATATATATATGTATATATATATATATATATATAT	PRR20G	ENSG00000239620.3	transcript	ENST00000465482.3	protein_coding		1870		chr3	TogoVar
SLC38A10_chr17_81239811_81300307	81249360	G G	GATGAAGG others(2013): Show GATGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAAGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGAAGGGAGAAGGAGGGAGGG AGAAGGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAGAAGGAAGGAGGG AAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGG AGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAA GAGGAGGGAGAAGGAGGGAGGCAAGAGAAGGGAGAAGGAGGGAGAAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGG AGAAGGAGGGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGG AGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAG AAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAG GGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGG AAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAA GAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAG GGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGG AAGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGA AGGGAGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAA GGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGAGGG AGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAG GGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAA GGAGGGAGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGG AGGGAAGAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAA GAGAAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGGAAGAGGAG GGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGG AGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGGAGGAGG AGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAG GGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAA GGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGGCAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAG GGAGGCAAGAGGAGGGAGAAGGAGGGAGGAGGAGGGAGAAGGAGGGAGGG AAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAA GAGGAGGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAGGAGGGAGAAAGA GGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGG GAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAAGGAGAAGGAGGGA GGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGGGAA AAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAA GGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGG AGGGAGGGAAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG03540.hp1 others(1): Show HG01243.hp1 HG01891.hp2 HG03540.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0018 a0001c0002 a0004c0018	a0001c0002t0001 a0004c0018t0001 a0001c0002t0001 a0004c0018t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 others(1): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0004c0018t0001g0007	4	214	0.0187	2020	c.206 others(2039): Show c.2065+2132_2065+2133insTCTCCCTCCTCTTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTTTCCC TCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCCCT CCTTCTCCTTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCC TTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCTTT CTCCCTCCTCTTCCCTCCCTCCTCCCTCCCTCCTTCTCCCTCCTCTTCCC TCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTC CCTCCTTCTCCCTCCTCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCT TCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCT CTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCC TCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTC CTCTTCCCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCT CTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTTCTCTTGCC TCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCTC CTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCTC CCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCC TCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTC CTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTC CCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCT CCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCC TCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTTCTCT TGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTCCCTC CCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCT TCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCC TCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTC CCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCT TCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTCTCCC TCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCT TCCCTCCCTCCTTCTCCCTCCTCCTCCCTCCTTCTCCCTCCTTCTCCCTC CTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCT TCTCCCTCCTTCTCCCTTCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCC TCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTC CTTCTCCCTCCTCCTCCCTCCTTCTCCCTCCTTCTCCCTCCTCTTCCCTC CTTCCTTCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCC TCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCCTTCTCCCTC CCTCCTTCTCCCTTCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCC TCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTC CTTCTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCAT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
ADAMTS12_chr5_33518535_33896990	33827171	A A	ACCACAAC others(2014): Show ACCACAACCTTGACCTCTATCAACTAGGATCAAGTCTTTTAGGAAGGTAG GAGTCAAGGAGGGTCAGTCTTATTTACATTGAAGAAATAGATTAGAAGTT ACAGCAGGAACATTATACTTGTAGCTCAGGAAGATTGTGTTTTCTTTTCA TCCACAGTACTAAAATATAAGACCCCAAATATTTTTCCACTGCATATTTT TCTTTAGCGGTAATCAGGAAAACAGCTCAAGAAATAATAGCTGAGTTCAG GAGTTATACTGAAAAAGCCAGTCTTAGCTTTTCTAGACTTTAGTTTCTTC ATCTGTAAAATGGCTAAATAATAATAGTTTCTACCTATAGGGCTCTTACA AAGATTAAATAGTGGAATCCAATGTTAGCAAACTATGGTCCATGGGCCAA ACCTGGCCCATCTGTAAATAAAGTTCTATGAGAACGGAGTCACGGCCATT TGTTTACGCATTGTCTATGCTGTTTCACCCTGTAGCAGGAGAGTTGGGTA ATTGTGAGAGAGACCACATGGGCCCATAAAGCCTGAAATATTTACTATCT GGCTTTTTACAAAAAAAAAACTCTCCCACCCCTGATACAATCCACATACA TTATTTTGTACAAGTCCTAGTATGTAAACACTTAGCTATTGTTTTCTATT TAGAGTTTTGTATTTTGTGACTTGCGAAAATAAATGTGTGAATTGTAAGG CAATGTAAAGCTGAACAATTGACAATGAAAACTAGATTCTGGCATCAGGT TCTCAGAATATTTGATTTCAAGGAAAAGTTACCCAGACATATAAAATCAT TAAGAACAGAGCTACTTTGACTGGAGCCATGGTGGGGGACCTGGAAAAAT ACTATATCAAACATACACAATTACGTAGGTGCTCCTTAAAACCTAAAGAA ATTAATTGAAAACATAAAATCTAAAGCCTGAATGCCAGAGGGCTTTTTCT TTGTATTTCATGTAACTTTATACTCTCACCTATAAGCCACAAGAGCAAAT AATGGCAATAGCATAAGGTAAGTAATTACTAATATCACACCTTTATACAC TTATTATATAACCACAAAATTTTTTTCTTAAATAATATCATTTCTTGAAT AAGGGAAGTAAACAGATGGATTCTCAAGTCACTCTGTTTTCATGAAGCTT TCCCCTTACCTGATATTTTATACTGCATGCATTTCCAAAAGGAATACTTT GCAGAAAAGAAATATAGCACTTGTTTGGCAACTCTTGAGAATTGACTCAG AAGGCAACCTTGACATCTCAGGCAAGATCTTTCTTCTTTACAGCAAGATG ACGACATTTCTGATCCCAAGCCAAGGTCAGTGCTAGCAGGAGATGATGCA GAAAAAGGCTGGGCATACACAGGGGCAGAAAAACAGCCCCAGGCTAGGAG GACCTGGAAAATGTAACTGAAAAACTATTCTTCAAAGCCAGTTGTGAACA GCAGCAACCCCATCCAGGAAGACTACATGGTTACACTTGGCAGGCTGTGC GGAACAGATGAGGCAGTGTGACACAGTCAAGTCACCCACAAGAACGTGGC ATTTTTGTGGTGTTTGAAACATTTCAGCTAGATAAGCCTAAATTGGCTTC CTTTATAGCAAAACTACCTGCCACTCATTATATTCATGCCAATATCAGGT TCCTCATGGGGCATGCTATGACATATTTACCCCCAGACCAACTCAGGATT TAAAAGGAAGATGAGATATTTATAGGCTAGGAATTCTCTAATGGACACGC TAATGAACAAATAAATGTGAAACCATCTCCTAAAGATCAAGGATACCAGA AAAAAAAAAAAAACTGATCCCTAGGTCAGTGTGATATGCCGACTTCCAAG ATGGCTCCCAAGATTCCAAGCCCTGGAGTAGGCACGACTCCCAGTCATTC AAAGGAACACTAATCTACATGCTGTGTGAAGGGACTGTGCTGATGTAAGT AGGGTTCCAAAACAGTCGACCTTAAAATACGGAGATTATCAGGGTGACCA TGGCCTAATCACAGAGCTCTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG03098.hp1 others(1): Show HG02145.hp1 HG02257.hp1 HG03098.hp1 NA18522.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0011	a0001c0001 a0003c0005 a0004c0007 others(1): Show a0001c0001 a0003c0005 a0004c0007 a0011c0015	a0001c0001t0004 a0003c0005t0007 a0004c0007t0014 others(1): Show a0001c0001t0004 a0003c0005t0007 a0004c0007t0014 a0011c0015t0003	a0001c0001t0004g0080 a0003c0005t0007g0040 a0004c0007t0014g0113 others(1): Show a0001c0001t0004g0080 a0003c0005t0007g0040 a0004c0007t0014g0113 a0011c0015t0003g0041	4	224	0.0179	2021	c.489 others(2040): Show c.489+53947_489+53948insAAAGAGCTCTGTGATTAGGCCATGGT CACCCTGATAATCTCCGTATTTTAAGGTCGACTGTTTTGGAACCCTACTT ACATCAGCACAGTCCCTTCACACAGCATGTAGATTAGTGTTCCTTTGAAT GACTGGGAGTCGTGCCTACTCCAGGGCTTGGAATCTTGGGAGCCATCTTG GAAGTCGGCATATCACACTGACCTAGGGATCAGTTTTTTTTTTTTTTCTG GTATCCTTGATCTTTAGGAGATGGTTTCACATTTATTTGTTCATTAGCGT GTCCATTAGAGAATTCCTAGCCTATAAATATCTCATCTTCCTTTTAAATC CTGAGTTGGTCTGGGGGTAAATATGTCATAGCATGCCCCATGAGGAACCT GATATTGGCATGAATATAATGAGTGGCAGGTAGTTTTGCTATAAAGGAAG CCAATTTAGGCTTATCTAGCTGAAATGTTTCAAACACCACAAAAATGCCA CGTTCTTGTGGGTGACTTGACTGTGTCACACTGCCTCATCTGTTCCGCAC AGCCTGCCAAGTGTAACCATGTAGTCTTCCTGGATGGGGTTGCTGCTGTT CACAACTGGCTTTGAAGAATAGTTTTTCAGTTACATTTTCCAGGTCCTCC TAGCCTGGGGCTGTTTTTCTGCCCCTGTGTATGCCCAGCCTTTTTCTGCA TCATCTCCTGCTAGCACTGACCTTGGCTTGGGATCAGAAATGTCGTCATC TTGCTGTAAAGAAGAAAGATCTTGCCTGAGATGTCAAGGTTGCCTTCTGA GTCAATTCTCAAGAGTTGCCAAACAAGTGCTATATTTCTTTTCTGCAAAG TATTCCTTTTGGAAATGCATGCAGTATAAAATATCAGGTAAGGGGAAAGC TTCATGAAAACAGAGTGACTTGAGAATCCATCTGTTTACTTCCCTTATTC AAGAAATGATATTATTTAAGAAAAAAATTTTGTGGTTATATAATAAGTGT ATAAAGGTGTGATATTAGTAATTACTTACCTTATGCTATTGCCATTATTT GCTCTTGTGGCTTATAGGTGAGAGTATAAAGTTACATGAAATACAAAGAA AAAGCCCTCTGGCATTCAGGCTTTAGATTTTATGTTTTCAATTAATTTCT TTAGGTTTTAAGGAGCACCTACGTAATTGTGTATGTTTGATATAGTATTT TTCCAGGTCCCCCACCATGGCTCCAGTCAAAGTAGCTCTGTTCTTAATGA TTTTATATGTCTGGGTAACTTTTCCTTGAAATCAAATATTCTGAGAACCT GATGCCAGAATCTAGTTTTCATTGTCAATTGTTCAGCTTTACATTGCCTT ACAATTCACACATTTATTTTCGCAAGTCACAAAATACAAAACTCTAAATA GAAAACAATAGCTAAGTGTTTACATACTAGGACTTGTACAAAATAATGTA TGTGGATTGTATCAGGGGTGGGAGAGTTTTTTTTTTGTAAAAAGCCAGAT AGTAAATATTTCAGGCTTTATGGGCCCATGTGGTCTCTCTCACAATTACC CAACTCTCCTGCTACAGGGTGAAACAGCATAGACAATGCGTAAACAAATG GCCGTGACTCCGTTCTCATAGAACTTTATTTACAGATGGGCCAGGTTTGG CCCATGGACCATAGTTTGCTAACATTGGATTCCACTATTTAATCTTTGTA AGAGCCCTATAGGTAGAAACTATTATTATTTAGCCATTTTACAGATGAAG AAACTAAAGTCTAGAAAAGCTAAGACTGGCTTTTTCAGTATAACTCCTGA ACTCAGCTATTATTTCTTGAGCTGTTTTCCTGATTACCGCTAAAGAAAAA TATGCAGTGGAAAAATATTTGGGGTCTTATATTTTAGTACTGTGGATGAA AAGAAAACACAATCTTCCTGAGCTACAAGTATAATGTTCCTGCTGTAACT TCTAATCTATTTCTTCAATGTAAATAAGACTGACCCTCCTTGACTCCTAC CTTCCTAAAAGACTTGATCCTAGTTGATAGAGGTCAAGGTTGTGG	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33827171	A A	ACCACAAC others(2014): Show ACCACAACCTTGACCTCTATCAACTAGGATCAAGTCTTTTAGGAAGGTAG GAGTCAAGGAGGGTCAGTCTTATTTACATTGAAGAAATAGATTAGAAGTT ACAGCAGGAACATTATACTTGTAGCTCAGGAAGATTGTGTTTTCTTTTCA TCCACAGTACTAAAATATAAGACCCCAAATATTTTTCCACTGCATATTTT TCTTTAGCGGTAATCAGGAAAACAGCTCAAGAAATAATAGCTGAGTTCAG GAGTTATACTGAAAAAGCCAGTCTTAGCTTTTCTAGACTTTAGTTTCTTC ATCTGTAAAATGGCTAAATAATAATAGTTTCTACCTATAGGGCTCTTACA AAGATTAAATAGTGGAATCCAATGTTAGCAAACTATGGTCCATGGGCCAA ACCTGGCCCATCTGTAAATAAAGTTCTATGAGAACGGAGTCATGGCCATT TGTTTACGCATTGTCTATGCTGTTTCACCCTGTAGCAGGAGAGTTGGGTA ATTGTGAGAGAGACCACATGGGCCCATAAAGCCTGAAATATTTACTATCT GGCTTTTTACAAAAAAAAAACTCTCCCACCCCTGATACAATCCACATACA TTATTTTGTACAAGTCCTAGTATGTAAACACTTAGCTATTGTTTTCTATT TAGAGTTTTGTATTTTGTGACTTGCGAAAATAAATGTGTGAATTGTAAGG CAATGTAAAGCTGAACAATTGACAATGAAAACTAGATTCTGGCATCAGGT TCTCAGAATATTTGATTTCAAGGAAAAGTTACCCAGACATATAAAATCAT TAAGAACAGAGCTACTTTGACTGGAGCCATGGTGGGGGACCTGGAAAAAT ACTATATCAAACATACACAATTACGTAGGTGCTCCTTAAAACCTAAAGAA ATTAATTGAAAACATAAAATCTAAAGCCTGAATGCCAGAGGGCTTTTTCT TTGTATTTCATGTAACTTTATACTCTCACCTATAAGCCACAAGAGCAAAT AATGGCAATAGCATAAGGTAAGTAATTACTAATATCACACCTTTATACAC TTATTATATAACCACAAAATTTTTTTCTTAAATAATATCATTTCTTGAAT AAGGGAAGTAAACAGATGGATTCTCAAGTCACTCTGTTTTCATGAAGCTT TCCCCTTACCTGATATTTTATACTGCATGCATTTCCAAAAGGAATACTTT GCAGAAAAGAAATATAGCACTTGTTTGGCAACTCTTGAGAATTGACTCAG AAGGCAACCTTGACATCTCAGGCAAGATCTTTCTTCTTTACAGCAAGATG ACGACATTTCTGATCCCAAGCCAAGGTCAGTGCTAGCAGGAGATGATGCA GAAAAAGGCTGGGCATACACAGGGGCAGAAAAACAGCCCCAGGCTAGGAG GACCTGGAAAATGTAACTGAAAAACTATTCTTCAAAGCCAGTTGTGAACA GCAGCAACCCCATCCAGGAAGACTACATGGTTACACTTGGCAGGCTGTGC GGAACAGATGAGGCAGTGTGACACAGTCAAGTCACCCACAAGAACGTGGC ATTTTTGTGGTGTTTGAAACATTTCAGCTAGATAAGCCTAAATTGGCTTC CTTTATAGCAAAACTACCTGCCACTCATTATATTCATGCCAATATCAGGT TCCTCATGGGGCATGCTATGACATATTTACCCCCAGACCAACTCAGGATT TAAAAGGAAGATGAGATATTTATAGGCTAGGAATTCTCTAATGGACACGC TAATGAACAAATAAATGTGAAACCATCTCCTAAAGATCAAGGATACCAGA AAAAAAAAAAAAACTGATCCCTAGGTCAGTGTGATATGCCGACTTCCAAG ATGGCTCCCAAGATTCCAAGCCCTGGAGTAGGCACGACTCCCAGTCATTC AAAGGAACACTAATCTACATGCTGTGTGAAGGGACTGTGCTGATGTAAGT AGGGTTCCAAAACAGTCGACCTTAAAATACGGAGATTATCAGGGTGACCA TGGCCTAATCACAGAGCTCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(51): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp1 HG01981.hp2 HG02165.hp2 HG02293.hp1 HG02615.hp1 HG02683.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG04204.hp1 HG04204.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18970.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18999.hp2 NA19003.hp2 NA19043.hp1 NA19054.hp1 NA19080.hp2 NA19088.hp1 NA20129.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0012 a0013 a0023 a0032	a0001c0001 a0001c0003 a0001c0008 others(16): Show a0001c0001 a0001c0003 a0001c0008 a0001c0024 a0001c0027 a0001c0031 a0001c0036 a0002c0002 a0002c0004 a0002c0009 a0002c0026 a0003c0005 a0005c0006 a0006c0012 a0007c0010 a0012c0021 a0013c0061 a0023c0047 a0032c0042	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0003t0001 a0001c0008t0005 a0001c0024t0001 a0001c0027t0004 a0001c0031t0001 a0001c0036t0004 a0002c0002t0002 a0002c0002t0003 a0002c0004t0002 a0002c0009t0001 a0002c0026t0002 a0003c0005t0006 a0005c0006t0001 a0005c0006t0011 a0005c0006t0016 a0006c0012t0001 a0007c0010t0002 a0012c0021t0012 a0013c0061t0013 a0023c0047t0001 a0032c0042t0003	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0082 others(51): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0001g0210 a0001c0001t0003g0104 a0001c0001t0003g0136 a0001c0001t0003g0180 a0001c0001t0004g0056 a0001c0001t0004g0066 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0009g0161 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0057 a0001c0003t0001g0143 a0001c0008t0005g0031 a0001c0008t0005g0079 a0001c0008t0005g0156 a0001c0024t0001g0050 a0001c0027t0004g0026 a0001c0031t0001g0115 a0001c0036t0004g0012 a0002c0002t0002g0011 a0002c0002t0002g0030 a0002c0002t0002g0048 a0002c0002t0002g0098 a0002c0002t0002g0116 a0002c0002t0002g0154 a0002c0002t0003g0003 a0002c0004t0002g0006 a0002c0004t0002g0016 a0002c0004t0002g0017 a0002c0004t0002g0150 a0002c0004t0002g0171 a0002c0009t0001g0211 a0002c0026t0002g0160 a0003c0005t0006g0134 a0005c0006t0001g0147 a0005c0006t0001g0191 a0005c0006t0011g0018 a0005c0006t0016g0158 a0006c0012t0001g0124 a0007c0010t0002g0122 a0007c0010t0002g0123 a0012c0021t0012g0213 a0013c0061t0013g0223 a0023c0047t0001g0126 a0032c0042t0003g0142	54	224	0.2411	2021	c.489 others(2040): Show c.489+53947_489+53948insAAAGAGCTCTGTGATTAGGCCATGGT CACCCTGATAATCTCCGTATTTTAAGGTCGACTGTTTTGGAACCCTACTT ACATCAGCACAGTCCCTTCACACAGCATGTAGATTAGTGTTCCTTTGAAT GACTGGGAGTCGTGCCTACTCCAGGGCTTGGAATCTTGGGAGCCATCTTG GAAGTCGGCATATCACACTGACCTAGGGATCAGTTTTTTTTTTTTTTCTG GTATCCTTGATCTTTAGGAGATGGTTTCACATTTATTTGTTCATTAGCGT GTCCATTAGAGAATTCCTAGCCTATAAATATCTCATCTTCCTTTTAAATC CTGAGTTGGTCTGGGGGTAAATATGTCATAGCATGCCCCATGAGGAACCT GATATTGGCATGAATATAATGAGTGGCAGGTAGTTTTGCTATAAAGGAAG CCAATTTAGGCTTATCTAGCTGAAATGTTTCAAACACCACAAAAATGCCA CGTTCTTGTGGGTGACTTGACTGTGTCACACTGCCTCATCTGTTCCGCAC AGCCTGCCAAGTGTAACCATGTAGTCTTCCTGGATGGGGTTGCTGCTGTT CACAACTGGCTTTGAAGAATAGTTTTTCAGTTACATTTTCCAGGTCCTCC TAGCCTGGGGCTGTTTTTCTGCCCCTGTGTATGCCCAGCCTTTTTCTGCA TCATCTCCTGCTAGCACTGACCTTGGCTTGGGATCAGAAATGTCGTCATC TTGCTGTAAAGAAGAAAGATCTTGCCTGAGATGTCAAGGTTGCCTTCTGA GTCAATTCTCAAGAGTTGCCAAACAAGTGCTATATTTCTTTTCTGCAAAG TATTCCTTTTGGAAATGCATGCAGTATAAAATATCAGGTAAGGGGAAAGC TTCATGAAAACAGAGTGACTTGAGAATCCATCTGTTTACTTCCCTTATTC AAGAAATGATATTATTTAAGAAAAAAATTTTGTGGTTATATAATAAGTGT ATAAAGGTGTGATATTAGTAATTACTTACCTTATGCTATTGCCATTATTT GCTCTTGTGGCTTATAGGTGAGAGTATAAAGTTACATGAAATACAAAGAA AAAGCCCTCTGGCATTCAGGCTTTAGATTTTATGTTTTCAATTAATTTCT TTAGGTTTTAAGGAGCACCTACGTAATTGTGTATGTTTGATATAGTATTT TTCCAGGTCCCCCACCATGGCTCCAGTCAAAGTAGCTCTGTTCTTAATGA TTTTATATGTCTGGGTAACTTTTCCTTGAAATCAAATATTCTGAGAACCT GATGCCAGAATCTAGTTTTCATTGTCAATTGTTCAGCTTTACATTGCCTT ACAATTCACACATTTATTTTCGCAAGTCACAAAATACAAAACTCTAAATA GAAAACAATAGCTAAGTGTTTACATACTAGGACTTGTACAAAATAATGTA TGTGGATTGTATCAGGGGTGGGAGAGTTTTTTTTTTGTAAAAAGCCAGAT AGTAAATATTTCAGGCTTTATGGGCCCATGTGGTCTCTCTCACAATTACC CAACTCTCCTGCTACAGGGTGAAACAGCATAGACAATGCGTAAACAAATG GCCATGACTCCGTTCTCATAGAACTTTATTTACAGATGGGCCAGGTTTGG CCCATGGACCATAGTTTGCTAACATTGGATTCCACTATTTAATCTTTGTA AGAGCCCTATAGGTAGAAACTATTATTATTTAGCCATTTTACAGATGAAG AAACTAAAGTCTAGAAAAGCTAAGACTGGCTTTTTCAGTATAACTCCTGA ACTCAGCTATTATTTCTTGAGCTGTTTTCCTGATTACCGCTAAAGAAAAA TATGCAGTGGAAAAATATTTGGGGTCTTATATTTTAGTACTGTGGATGAA AAGAAAACACAATCTTCCTGAGCTACAAGTATAATGTTCCTGCTGTAACT TCTAATCTATTTCTTCAATGTAAATAAGACTGACCCTCCTTGACTCCTAC CTTCCTAAAAGACTTGATCCTAGTTGATAGAGGTCAAGGTTGTGG	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33827171	A A	ACCACAAC others(2014): Show ACCACAACCTTGACCTCTATCAACTAGGATCAAGTCTTTTAGGAAGGTAG GAGTCAAGGAGGGTCAGTCTTATTTACATTGAAGAAATAGATTAGAAGTT ACAGCAGGAACATTATACTTGTAGCTCAGGAAGATTGTGTTTTCTTTTCA TCCACAGTACTAAAATATAAGACCCCAAATATTTTTCCACTGCATATTTT TCTTTAGCGGTAATCAGGAAAACAGCTCAAGAAATAATAGCTGAGTTCAG GAGTTATACTGAAAAAGCCAGTCTTAGCTTTTCTAGACTTTAGTTTCTTC ATCTGTAAAATGGCTAAATAATAATAGTTTCTACCTATAGGGCTCTTACA AAGATTAAATAGTGGAATCCAATGTTAGCAAACTATGGTCCATGGGCCAA ACCTGGCCCATCTGTAAATAAAGTTCTATGAGAACGGAGTCATGGCCATT TGTTTACGCATTGTCTATGCTGTTTCACCCTGTAGCAGGAGAGTTGGGTA ATTGTGAGAGAGACCACATGGGCCCATAAAGCCTGAAATATTTACTATCT GGCTTTTTACAAAAAAAAAACTCTCCCACCCCTGATACAATCCACATACA TTATTTTGTACAAGTCCTAGTATGTAAACACTTAGCTATTGTTTTCTATT TAGAGTTTTGTATTTTGTGACTTGCGAAAATAAATGTGTGAATTGTAAGG CAATGTAAAGCTGAACAATTGACAATGAAAACTAGATTCTGGCATCAGGT TCTCAGAATATTTGATTTCAAGGAAAAGTTACCCAGACATATAAAATCAT TAAGAACAGAGCTACTTTGACTGGAGCCATGGTGGGGGACCTGGAAAAAT ACTATATCAAACATACACAATTACGTAGGTGCTCCTTAAAACCTAAAGAA ATTAATTGAAAACATAAAATCTAAAGCCTGAATGCCAGAGGGCTTTTTCT TTGTATTTCATGTAACTTTATACTCTCACCTATAAGCCACAAGAGCAAAT AATGGCAATAGCATAAGGTAAGTAATTACTAATATCACACCTTTATACAC TTATTATATAACCACAAAATTTTTTTCTTAAATAATATCATTTCTTGAAT AAGGGAAGTAAACAGATGGATTCTCAAGTCACTCTGTTTTCATGAAGCTT TCCCCTTACCTGATATTTTATACTGCATGCATTTCCAAAAGGAATACTTT GCAGAAAAGAAATATAGCACTTGTTTGGCAACTCTTGAGAATTGACTCAG AAGGCAACCTTGACATCTCAGGCAAGATCTTTCTTCTTTACAGCAAGATG ACGACATTTCTGATCCCAAGCCAAGGTCAGTGCTAGCAGGAGATGATGCA GAAAAAGGCTGGGCATACACAGGGGCAGAAAAACAGCCCCAGGCTAGGAG GACCTGGAAAATGTAACTGAAAAACTATTCTTCAAAGCCAGTTGTGAACA GCAGCAACCCCATCCAGGAAGACTACATGGTTACACTTGGCAGGCTGTGC GGAACAGATGAGGCAGTGTGACACAGTCAAGTCACCCACAAGAACGTGGC ATTTTTGTGGTGTTTGAAACATTTCAGCTAGATAAGCCTAAATTGGCTTC CTTTATAGCAAAACTACCTGCCACTCATTATATTCATGCCAATATCAGGT TCCTCATGGGGCATGCTATGACATATTTACCCCCAGACCAACTCAGGATT TAAAAGGAAGATGAGATATTTATAGGCTAGGAATTCTCTAATGGACACGC TAATGAACAAATAAATGTGAAACCATCTCCTAAAGATCAAGGATACCAGA AAAAAAAAAAAAACTGATCCCTAGGTCAGTGTGATATGCCGACTTCCAAG ATGGCTCCCAAGATTCCAAGCCCTGGAGTAGGCACGTCTCCCAGTCATTC AAAGGAACACTAATCTACATGCTGTGTGAAGGGACTGTGCTGATGTAAGT AGGGTTCCAAAACAGTCGACCTTAAAATACGGAGATTATCAGGGTGACCA TGGCCTAATCACAGAGCTCTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0108 a0001c0001t0015g0044 a0001c0001t0015g0046 a0001c0001t0003g0108 a0001c0001t0015g0044 a0001c0001t0015g0046	3	224	0.0134	2021	c.489 others(2040): Show c.489+53947_489+53948insAAAGAGCTCTGTGATTAGGCCATGGT CACCCTGATAATCTCCGTATTTTAAGGTCGACTGTTTTGGAACCCTACTT ACATCAGCACAGTCCCTTCACACAGCATGTAGATTAGTGTTCCTTTGAAT GACTGGGAGACGTGCCTACTCCAGGGCTTGGAATCTTGGGAGCCATCTTG GAAGTCGGCATATCACACTGACCTAGGGATCAGTTTTTTTTTTTTTTCTG GTATCCTTGATCTTTAGGAGATGGTTTCACATTTATTTGTTCATTAGCGT GTCCATTAGAGAATTCCTAGCCTATAAATATCTCATCTTCCTTTTAAATC CTGAGTTGGTCTGGGGGTAAATATGTCATAGCATGCCCCATGAGGAACCT GATATTGGCATGAATATAATGAGTGGCAGGTAGTTTTGCTATAAAGGAAG CCAATTTAGGCTTATCTAGCTGAAATGTTTCAAACACCACAAAAATGCCA CGTTCTTGTGGGTGACTTGACTGTGTCACACTGCCTCATCTGTTCCGCAC AGCCTGCCAAGTGTAACCATGTAGTCTTCCTGGATGGGGTTGCTGCTGTT CACAACTGGCTTTGAAGAATAGTTTTTCAGTTACATTTTCCAGGTCCTCC TAGCCTGGGGCTGTTTTTCTGCCCCTGTGTATGCCCAGCCTTTTTCTGCA TCATCTCCTGCTAGCACTGACCTTGGCTTGGGATCAGAAATGTCGTCATC TTGCTGTAAAGAAGAAAGATCTTGCCTGAGATGTCAAGGTTGCCTTCTGA GTCAATTCTCAAGAGTTGCCAAACAAGTGCTATATTTCTTTTCTGCAAAG TATTCCTTTTGGAAATGCATGCAGTATAAAATATCAGGTAAGGGGAAAGC TTCATGAAAACAGAGTGACTTGAGAATCCATCTGTTTACTTCCCTTATTC AAGAAATGATATTATTTAAGAAAAAAATTTTGTGGTTATATAATAAGTGT ATAAAGGTGTGATATTAGTAATTACTTACCTTATGCTATTGCCATTATTT GCTCTTGTGGCTTATAGGTGAGAGTATAAAGTTACATGAAATACAAAGAA AAAGCCCTCTGGCATTCAGGCTTTAGATTTTATGTTTTCAATTAATTTCT TTAGGTTTTAAGGAGCACCTACGTAATTGTGTATGTTTGATATAGTATTT TTCCAGGTCCCCCACCATGGCTCCAGTCAAAGTAGCTCTGTTCTTAATGA TTTTATATGTCTGGGTAACTTTTCCTTGAAATCAAATATTCTGAGAACCT GATGCCAGAATCTAGTTTTCATTGTCAATTGTTCAGCTTTACATTGCCTT ACAATTCACACATTTATTTTCGCAAGTCACAAAATACAAAACTCTAAATA GAAAACAATAGCTAAGTGTTTACATACTAGGACTTGTACAAAATAATGTA TGTGGATTGTATCAGGGGTGGGAGAGTTTTTTTTTTGTAAAAAGCCAGAT AGTAAATATTTCAGGCTTTATGGGCCCATGTGGTCTCTCTCACAATTACC CAACTCTCCTGCTACAGGGTGAAACAGCATAGACAATGCGTAAACAAATG GCCATGACTCCGTTCTCATAGAACTTTATTTACAGATGGGCCAGGTTTGG CCCATGGACCATAGTTTGCTAACATTGGATTCCACTATTTAATCTTTGTA AGAGCCCTATAGGTAGAAACTATTATTATTTAGCCATTTTACAGATGAAG AAACTAAAGTCTAGAAAAGCTAAGACTGGCTTTTTCAGTATAACTCCTGA ACTCAGCTATTATTTCTTGAGCTGTTTTCCTGATTACCGCTAAAGAAAAA TATGCAGTGGAAAAATATTTGGGGTCTTATATTTTAGTACTGTGGATGAA AAGAAAACACAATCTTCCTGAGCTACAAGTATAATGTTCCTGCTGTAACT TCTAATCTATTTCTTCAATGTAAATAAGACTGACCCTCCTTGACTCCTAC CTTCCTAAAAGACTTGATCCTAGTTGATAGAGGTCAAGGTTGTGG	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33827171	A A	ACCACAAC others(2014): Show ACCACAACCTTGACCTCTATCAACTAGGATCAAGTCTTTTAGGAAGGTAG GAGTCAAGGAGGGTCAGTCTTATTTACATTGAAGAAATAGATTAGAAGTT ACAGCAGGAACATTATACTTGTAGCTCAGGAAGATTGTGTTTTCTTTTCA TCCACAGTACTAAAATATAAGACCCCAAATATTTTTCCACTGCATATTTT TCTTTAGCGGTAATCAGGAAAACAGCTCAAGAAATAATAGCTGAGTTCAG GAGTTATACTGAAAAAGCCAGTCTTAGCTTTTCTAGACTTTAGTTTCTTC ATCTGTAAAATGGCTAAATAATAATAGTTTCTACCTATAGGGCTCTTACA AAGATTAAATAGTGGAATCCAATGTTAGCAAACTATGGTCCATGGGCCAA ACCTGGCCCATCTGTAAATAAAGTTCTATGAGAACGGAGTCATGGCCATT TGTTTACGCATTGTCTATGCTGTTTCACCCTGTAGCAGGAGAGTTGGGTA ATTGTGAGAGAGACCACATGGGCCCATAAAGCCTGAAATATTTACTATCT GGCTTTTTACAAAAAAAAAACTCTCCCACCCCTGATACAATCCACATACA TTATTTTGTACAAGTCCTAGTATGTAAACACTTAGCTATTGTTTTCTATT TAGAGTTTTGTATTTTGTGACTTGTGAAAATAAATGTGTGAATTGTAAGG CAATGTAAAGCTGAACAATTGACAATGAAAACTAGATTCTGGCATCAGGT TCTCAGAATATTTGATTTCAAGGAAAAGTTACCCAGACATATAAAATCAT TAAGAACAGAGCTACTTTGACTGGAGCCATGGTGGGGGACCTGGAAAAAT ACTATATCAAACATACACAATTACGTAGGTGCTCCTTAAAACCTAAAGAA ATTAATTGAAAACATAAAATCTAAAGCCTGAATGCCAGAGGGCTTTTTCT TTGTATTTCATGTAACTTTATACTCTCACCTATAAGCCACAAGAGCAAAT AATGGCAATAGCATAAGGTAAGTAATTACTAATATCACACCTTTATACAC TTATTATATAACCACAAAATTTTTTTCTTAAATAATATCATTTCTTGAAT AAGGGAAGTAAACAGATGGATTCTCAAGTCACTCTGTTTTCATGAAGCTT TCCCCTTACCTGATATTTTATACTGCATGCATTTCCAAAAGGAATACTTT GCAGAAAAGAAATATAGCACTTGTTTGGCAACTCTTGAGAATTGACTCAG AAGGCAACCTTGACATCTCAGGCAAGATCTTTCTTCTTTACAGCAAGATG ACGACATTTCTGATCCCAAGCCAAGGTCAGTGCTAGCAGGAGATGATGCA GAAAAAGGCTGGGCATACACAGGGGCAGAAAAACAGCCCCAGGCTAGGAG GACCTGGAAAATGTAACTGAAAAACTATTCTTCAAAGCCAGTTGTGAACA GCAGCAACCCCATCCAGGAAGACTACATGGTTACACTTGGCAGGCTGTGC GGAACAGATGAGGCAGTGTGACACAGTCAAGTCACCCACAAGAACGTGGC ATTTTTGTGGTGTTTGAAACATTTCAGCTAGATAAGCCTAAATTGGCTTC CTTTATAGCAAAACTACCTGCCACTCATTATATTCATGCCAATATCAGGT TCCTCATGGGGCATGCTATGACATATTTACCCCCAGACCAACTCAGGATT TAAAAGGAAGATGAGATATTTATAGGCTAGGAATTCTCTAATGGACACGC TAATGAACAAATAAATGTGAAACCATCTCCTAAAGATCAAGGATACCAGA AAAAAAAAAAAAACTGATCCCTAGGTCAGTGTGATATGCCGACTTCCAAG ATGGCTCCCAAGATTCCAAGCCCTGGAGTAGGCACGACTCCCAGTCATTC AAAGGAACACTAATCTACATGCTGTGTGAAGGGACTGTGCTGATGTAAGT AGGGTTCCAAAACAGTCGACCTTAAAATACGGAGATTATCAGGGTGACCA TGGCCTAATCACAGAGCTCTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01952.hp1 HG02523.hp2 others(1): Show HG00438.hp1 HG01952.hp1 HG02523.hp2 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0071 a0002c0004t0002g0037	4	224	0.0179	2021	c.489 others(2040): Show c.489+53947_489+53948insAAAGAGCTCTGTGATTAGGCCATGGT CACCCTGATAATCTCCGTATTTTAAGGTCGACTGTTTTGGAACCCTACTT ACATCAGCACAGTCCCTTCACACAGCATGTAGATTAGTGTTCCTTTGAAT GACTGGGAGTCGTGCCTACTCCAGGGCTTGGAATCTTGGGAGCCATCTTG GAAGTCGGCATATCACACTGACCTAGGGATCAGTTTTTTTTTTTTTTCTG GTATCCTTGATCTTTAGGAGATGGTTTCACATTTATTTGTTCATTAGCGT GTCCATTAGAGAATTCCTAGCCTATAAATATCTCATCTTCCTTTTAAATC CTGAGTTGGTCTGGGGGTAAATATGTCATAGCATGCCCCATGAGGAACCT GATATTGGCATGAATATAATGAGTGGCAGGTAGTTTTGCTATAAAGGAAG CCAATTTAGGCTTATCTAGCTGAAATGTTTCAAACACCACAAAAATGCCA CGTTCTTGTGGGTGACTTGACTGTGTCACACTGCCTCATCTGTTCCGCAC AGCCTGCCAAGTGTAACCATGTAGTCTTCCTGGATGGGGTTGCTGCTGTT CACAACTGGCTTTGAAGAATAGTTTTTCAGTTACATTTTCCAGGTCCTCC TAGCCTGGGGCTGTTTTTCTGCCCCTGTGTATGCCCAGCCTTTTTCTGCA TCATCTCCTGCTAGCACTGACCTTGGCTTGGGATCAGAAATGTCGTCATC TTGCTGTAAAGAAGAAAGATCTTGCCTGAGATGTCAAGGTTGCCTTCTGA GTCAATTCTCAAGAGTTGCCAAACAAGTGCTATATTTCTTTTCTGCAAAG TATTCCTTTTGGAAATGCATGCAGTATAAAATATCAGGTAAGGGGAAAGC TTCATGAAAACAGAGTGACTTGAGAATCCATCTGTTTACTTCCCTTATTC AAGAAATGATATTATTTAAGAAAAAAATTTTGTGGTTATATAATAAGTGT ATAAAGGTGTGATATTAGTAATTACTTACCTTATGCTATTGCCATTATTT GCTCTTGTGGCTTATAGGTGAGAGTATAAAGTTACATGAAATACAAAGAA AAAGCCCTCTGGCATTCAGGCTTTAGATTTTATGTTTTCAATTAATTTCT TTAGGTTTTAAGGAGCACCTACGTAATTGTGTATGTTTGATATAGTATTT TTCCAGGTCCCCCACCATGGCTCCAGTCAAAGTAGCTCTGTTCTTAATGA TTTTATATGTCTGGGTAACTTTTCCTTGAAATCAAATATTCTGAGAACCT GATGCCAGAATCTAGTTTTCATTGTCAATTGTTCAGCTTTACATTGCCTT ACAATTCACACATTTATTTTCACAAGTCACAAAATACAAAACTCTAAATA GAAAACAATAGCTAAGTGTTTACATACTAGGACTTGTACAAAATAATGTA TGTGGATTGTATCAGGGGTGGGAGAGTTTTTTTTTTGTAAAAAGCCAGAT AGTAAATATTTCAGGCTTTATGGGCCCATGTGGTCTCTCTCACAATTACC CAACTCTCCTGCTACAGGGTGAAACAGCATAGACAATGCGTAAACAAATG GCCATGACTCCGTTCTCATAGAACTTTATTTACAGATGGGCCAGGTTTGG CCCATGGACCATAGTTTGCTAACATTGGATTCCACTATTTAATCTTTGTA AGAGCCCTATAGGTAGAAACTATTATTATTTAGCCATTTTACAGATGAAG AAACTAAAGTCTAGAAAAGCTAAGACTGGCTTTTTCAGTATAACTCCTGA ACTCAGCTATTATTTCTTGAGCTGTTTTCCTGATTACCGCTAAAGAAAAA TATGCAGTGGAAAAATATTTGGGGTCTTATATTTTAGTACTGTGGATGAA AAGAAAACACAATCTTCCTGAGCTACAAGTATAATGTTCCTGCTGTAACT TCTAATCTATTTCTTCAATGTAAATAAGACTGACCCTCCTTGACTCCTAC CTTCCTAAAAGACTTGATCCTAGTTGATAGAGGTCAAGGTTGTGG	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33827171	A A	ACCACAAC others(2014): Show ACCACAACCTTGACCTCTATCAACTAGGATCAAGTCTTTTAGGAAGGTAG GAGTCAAGGAGGGTCAGTCTTATTTACATTGAAGAAATAGATTAGAAGTT ACAGCAGGAACATTATACTTGTAGCTCAGGAAGATTGTGTTTTCTTTTCA TCCACAGTACTAAAATATAAGACCCCAAATATTTTTCCACTGCATATTTT TCTTTAGCGGTAATCAGGAAAACAGCTCAAGAAATAATAGCTGAGTTCAG GAGTTATACTGAAAAAGCCAGTCTTAGCTTTTCTAGACTTTAGTTTCTTC ATCTGTAAAATGGCTAAATAATAATAGTTTCTACCTATAGGGCTCTTACA AAGATTAAATAGTGGAATCCAATGTTAGCAAACTATGGTCCATGGGCCAA ACCTGGCCCATCTGTAAATAAAGTTCTATGAGAACGGAGTCATGGCCATT TGTTTACGCATTGTCTATGCTGTTTCACCCTGTAGCAGGAGAGTTGGGTA ATTGTGAGAGAGACCACATGGGCCCATAAAGCCTGAAATATTTACTATCT GGCTTTTTACAAAAAAAAACCTCTCCCACCCCTGATACAATCCACATACA TTATTTTGTACAAGTCCTAGTATGTAAACACTTAGCTATTGTTTTCTATT TAGAGTTTTGTATTTTGTGACTTGCGAAAATAAATGTGTGAATTGTAAGG CAATGTAAAGCTGAACAATTGACAATGAAAACTAGATTCTGGCATCAGGT TCTCAGAATATTTGATTTCAAGGAAAAGTTACCCAGACATATAAAATCAT TAAGAACAGAGCTACTTTGACTGGAGCCATGGTGGGGGACCTGGAAAAAT ACTATATCAAACATACACAATTACGTAGGTGCTCCTTAAAACCTAAAGAA ATTAATTGAAAACATAAAATCTAAAGCCTGAATGCCAGAGGGCTTTTTCT TTGTATTTCATGTAACTTTATACTCTCACCTATAAGCCACAAGAGCAAAT AATGGCAATAGCATAAGGTAAGTAATTACTAATATCACACCTTTATACAC TTATTATATAACCACAAAATTTTTTTCTTAAATAATATCATTTCTTGAAT AAGGGAAGTAAACAGATGGATTCTCAAGTCACTCTGTTTTCATGAAGCTT TCCCCTTACCTGATATTTTATACTGCATGCATTTCCAAAAGGAATACTTT GCAGAAAAGAAATATAGCACTTGTTTGGCAACTCTTGAGAATTGACTCAG AAGGCAACCTTGACATCTCAGGCAAGATCTTTCTTCTTTACAGCAAGATG ACGACATTTCTGATCCCAAGCCAAGGTCAGTGCTAGCAGGAGATGATGCA GAAAAAGGCTGGGCATACACAGGGGCAGAAAAACAGCCCCAGGCTAGGAG GACCTGGAAAATGTAACTGAAAAACTATTCTTCAAAGCCAGTTGTGAACA GCAGCAACCCCATCCAGGAAGACTACATGGTTACACTTGGCAGGCTGTGC GGAACAGATGAGGCAGTGTGACACAGTCAAGTCACCCACAAGAACGTGGC ATTTTTGTGGTGTTTGAAACATTTCAGCTAGATAAGCCTAAATTGGCTTC CTTTATAGCAAAACTACCTGCCACTCATTATATTCATGCCAATATCAGGT TCCTCATGGGGCATGCTATGACATATTTACCCCCAGACCAACTCAGGATT TAAAAGGAAGATGAGATATTTATAGGCTAGGAATTCTCTAATGGACACGC TAATGAACAAATAAATGTGAAACCATCTCCTAAAGATCAAGGATACCAGA AAAAAAAAAAAAACTGATCCCTAGGTCAGTGTGATATGCCGACTTCCAAG ATGGCTCCCAAGATTCCAAGCCCTGGAGTAGGCACGTCTCCCAGTCATTC AAAGGAACACTAATCTACATGCTGTGTGAAGGGACTGTGCTGATGTAAGT AGGGTTCCAAAACAGTCGACCTTAAAATACGGAGATTATCAGGGTGACCA TGGCCTAATCACAGAGCTCTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02723.hp1 others(2): Show HG02572.hp2 HG02717.hp1 HG02723.hp1 HG03139.hp1 HG03516.hp1	a0003 a0018 a0019 others(2): Show a0003 a0018 a0019 a0022 a0029	a0003c0043 a0018c0057 a0019c0056 others(2): Show a0003c0043 a0018c0057 a0019c0056 a0022c0051 a0029c0041	a0003c0043t0010 a0018c0057t0022 a0019c0056t0001 others(2): Show a0003c0043t0010 a0018c0057t0022 a0019c0056t0001 a0022c0051t0006 a0029c0041t0001	a0003c0043t0010g0042 a0018c0057t0022g0175 a0019c0056t0001g0173 others(2): Show a0003c0043t0010g0042 a0018c0057t0022g0175 a0019c0056t0001g0173 a0022c0051t0006g0172 a0029c0041t0001g0214	5	224	0.0223	2021	c.489 others(2040): Show c.489+53947_489+53948insAAAGAGCTCTGTGATTAGGCCATGGT CACCCTGATAATCTCCGTATTTTAAGGTCGACTGTTTTGGAACCCTACTT ACATCAGCACAGTCCCTTCACACAGCATGTAGATTAGTGTTCCTTTGAAT GACTGGGAGACGTGCCTACTCCAGGGCTTGGAATCTTGGGAGCCATCTTG GAAGTCGGCATATCACACTGACCTAGGGATCAGTTTTTTTTTTTTTTCTG GTATCCTTGATCTTTAGGAGATGGTTTCACATTTATTTGTTCATTAGCGT GTCCATTAGAGAATTCCTAGCCTATAAATATCTCATCTTCCTTTTAAATC CTGAGTTGGTCTGGGGGTAAATATGTCATAGCATGCCCCATGAGGAACCT GATATTGGCATGAATATAATGAGTGGCAGGTAGTTTTGCTATAAAGGAAG CCAATTTAGGCTTATCTAGCTGAAATGTTTCAAACACCACAAAAATGCCA CGTTCTTGTGGGTGACTTGACTGTGTCACACTGCCTCATCTGTTCCGCAC AGCCTGCCAAGTGTAACCATGTAGTCTTCCTGGATGGGGTTGCTGCTGTT CACAACTGGCTTTGAAGAATAGTTTTTCAGTTACATTTTCCAGGTCCTCC TAGCCTGGGGCTGTTTTTCTGCCCCTGTGTATGCCCAGCCTTTTTCTGCA TCATCTCCTGCTAGCACTGACCTTGGCTTGGGATCAGAAATGTCGTCATC TTGCTGTAAAGAAGAAAGATCTTGCCTGAGATGTCAAGGTTGCCTTCTGA GTCAATTCTCAAGAGTTGCCAAACAAGTGCTATATTTCTTTTCTGCAAAG TATTCCTTTTGGAAATGCATGCAGTATAAAATATCAGGTAAGGGGAAAGC TTCATGAAAACAGAGTGACTTGAGAATCCATCTGTTTACTTCCCTTATTC AAGAAATGATATTATTTAAGAAAAAAATTTTGTGGTTATATAATAAGTGT ATAAAGGTGTGATATTAGTAATTACTTACCTTATGCTATTGCCATTATTT GCTCTTGTGGCTTATAGGTGAGAGTATAAAGTTACATGAAATACAAAGAA AAAGCCCTCTGGCATTCAGGCTTTAGATTTTATGTTTTCAATTAATTTCT TTAGGTTTTAAGGAGCACCTACGTAATTGTGTATGTTTGATATAGTATTT TTCCAGGTCCCCCACCATGGCTCCAGTCAAAGTAGCTCTGTTCTTAATGA TTTTATATGTCTGGGTAACTTTTCCTTGAAATCAAATATTCTGAGAACCT GATGCCAGAATCTAGTTTTCATTGTCAATTGTTCAGCTTTACATTGCCTT ACAATTCACACATTTATTTTCGCAAGTCACAAAATACAAAACTCTAAATA GAAAACAATAGCTAAGTGTTTACATACTAGGACTTGTACAAAATAATGTA TGTGGATTGTATCAGGGGTGGGAGAGGTTTTTTTTTGTAAAAAGCCAGAT AGTAAATATTTCAGGCTTTATGGGCCCATGTGGTCTCTCTCACAATTACC CAACTCTCCTGCTACAGGGTGAAACAGCATAGACAATGCGTAAACAAATG GCCATGACTCCGTTCTCATAGAACTTTATTTACAGATGGGCCAGGTTTGG CCCATGGACCATAGTTTGCTAACATTGGATTCCACTATTTAATCTTTGTA AGAGCCCTATAGGTAGAAACTATTATTATTTAGCCATTTTACAGATGAAG AAACTAAAGTCTAGAAAAGCTAAGACTGGCTTTTTCAGTATAACTCCTGA ACTCAGCTATTATTTCTTGAGCTGTTTTCCTGATTACCGCTAAAGAAAAA TATGCAGTGGAAAAATATTTGGGGTCTTATATTTTAGTACTGTGGATGAA AAGAAAACACAATCTTCCTGAGCTACAAGTATAATGTTCCTGCTGTAACT TCTAATCTATTTCTTCAATGTAAATAAGACTGACCCTCCTTGACTCCTAC CTTCCTAAAAGACTTGATCCTAGTTGATAGAGGTCAAGGTTGTGG	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33827171	A A	ACCACAAC others(2014): Show ACCACAACCTTGACCTCTATCAACTAGGATCAAGTCTTTTAGGAAGGTAG GAGTCAAGGAGGGTCAGTCTTATTTACATTGAAGAAATAGATTAGAAGTT ACAGCAGGAACATTATACTTGTAGCTCAGGAAGATTGTGTTTTCTTTTCA TCCACAGTACTAAAATATAAGACCCCAAATATTTTTCCACTGCATATTTT TCTTTAGCGGTAATCAGGAAAACAGCTCAAGAAATAATAGCTGAGTTCAG GAGTTATACTGAAAAAGCCAGTCTTAGCTTTTCTAGACTTTAGTTTCTTC ATCTGTAAAATGGCTAAATAATAATAGTTTCTACCTATAGGGCTCTTACA AAGATTAAATAGTGGAATCCAATGTTAGCAAACTATGGTCCATGGGCCAA ACCTGGCCCATCTGTAAATAAATTTCTATGAGAACGGAGTCATGGCCATT TGTTTACGCATTGTCTATGCTGTTTCACCCTGTAGCAGGAGAGTTGGGTA ATTGTGAGAGAGACCACATGGGCCCATAAAGCCTGAAATATTTACTATCT GGCTTTTTACAAAAAAAAAACTCTCCCACCCCTGATACAATCCACATACA TTATTTTGTACAAGTCCTAGTATGTAAACACTTAGCTATTGTTTTCTATT TAGAGTTTTGTATTTTGTGACTTGCGAAAATAAATGTGTGAATTGTAAGG CAATGTAAAGCTGAACAATTGACAATGAAAACTAGATTCTGGCATCAGGT TCTCAGAATATTTGATTTCAAGGAAAAGTTACCCAGACATATAAAATCAT TAAGAACAGAGCTACTTTGACTGGAGCCATGGTGGGGGACCTGGAAAAAT ACTATATCAAACATACACAATTACGTAGGTGCTCCTTAAAACCTAAAGAA ATTAATTGAAAACATAAAATCTAAAGCCTGAATGCCAGAGGGCTTTTTCT TTGTATTTCATGTAACTTTATACTCTCACCTATAAGCCACAAGAGCAAAT AATGGCAATAGCATAAGGTAAGTAATTACTAATATCACACCTTTATACAC TTATTATATAACCACAAAATTTTTTTCTTAAATAATATCATTTCTTGAAT AAGGGAAGTAAACAGATGGATTCTCAAGTCACTCTGTTTTCATGAAGCTT TCCCCTTACCTGATATTTTATACTGCATGCATTTCCAAAAGGAATACTTT GCAGAAAAGAAATATAGCACTTGTTTGGCAACTCTTGAGAATTGACTCAG AAGGCAACCTTGACATCTCAGGCAAGATCTTTCTTCTTTACAGCAAGATG ACGACATTTCTGATCCCAAGCCAAGGTCAGTGCTAGCAGGAGATGATGCA GAAAAAGGCTGGGCATACACAGGGGCAGAAAAACAGCCCCAGGCTAGGAG GACCTGGAAAATGTAACTGAAAAACTATTCTTCAAAGCCAGTTGTGAACA GCAGCAACCCCATCCAGGAAGACTACATGGTTACACTTGGCAGGCTGTGC GGAACAGATGAGGCAGTGTGACACAGTCAAGTCACCCACAAGAACGTGGC ATTTTTGTGGTGTTTGAAACATTTCAGCTAGATAAGCCTAAATTGGCTTC CTTTATAGCAAAACTACCTGCCACTCATTATATTCATGCCAATATCAGGT TCCTCATGGGGCATGCTATGACATATTTACCCCCAGACCAACTCAGGATT TAAAAGGAAGATGAGATATTTATAGGCTAGGAATTCTCTAATGGACACGC TAATGAACAAATAAATGTGAAACCATCTCCTAAAGATCAAGGATACCAGA AAAAAAAAAAAAACTGATCCCTAGGTCAGTGTGATATGCCGACTTCCAAG ATGGCTCCCAAGATTCCAAGCCCTGGAGTAGGCACGTCTCCCAGTCATTC AAAGGAACACTAATCTACATGCTGTGTGAAGGGACTGTGCTGATGTAAGT AGGGTTCCAAAACAGTCGACCTTAAAATACGGAGATTATCAGGGTGACCA TGGCCTAATCACAGAGCTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02818.hp2 HG01884.hp2 HG02630.hp2 HG02818.hp2	a0002 a0008 a0028 a0002 a0008 a0028	a0002c0002 a0008c0055 a0028c0030 a0002c0002 a0008c0055 a0028c0030	a0002c0002t0001 a0008c0055t0001 a0028c0030t0012 a0002c0002t0001 a0008c0055t0001 a0028c0030t0012	a0002c0002t0001g0045 a0008c0055t0001g0176 a0028c0030t0012g0200 a0002c0002t0001g0045 a0008c0055t0001g0176 a0028c0030t0012g0200	3	224	0.0134	2021	c.489 others(2040): Show c.489+53947_489+53948insAAAGAGCTCTGTGATTAGGCCATGGT CACCCTGATAATCTCCGTATTTTAAGGTCGACTGTTTTGGAACCCTACTT ACATCAGCACAGTCCCTTCACACAGCATGTAGATTAGTGTTCCTTTGAAT GACTGGGAGACGTGCCTACTCCAGGGCTTGGAATCTTGGGAGCCATCTTG GAAGTCGGCATATCACACTGACCTAGGGATCAGTTTTTTTTTTTTTTCTG GTATCCTTGATCTTTAGGAGATGGTTTCACATTTATTTGTTCATTAGCGT GTCCATTAGAGAATTCCTAGCCTATAAATATCTCATCTTCCTTTTAAATC CTGAGTTGGTCTGGGGGTAAATATGTCATAGCATGCCCCATGAGGAACCT GATATTGGCATGAATATAATGAGTGGCAGGTAGTTTTGCTATAAAGGAAG CCAATTTAGGCTTATCTAGCTGAAATGTTTCAAACACCACAAAAATGCCA CGTTCTTGTGGGTGACTTGACTGTGTCACACTGCCTCATCTGTTCCGCAC AGCCTGCCAAGTGTAACCATGTAGTCTTCCTGGATGGGGTTGCTGCTGTT CACAACTGGCTTTGAAGAATAGTTTTTCAGTTACATTTTCCAGGTCCTCC TAGCCTGGGGCTGTTTTTCTGCCCCTGTGTATGCCCAGCCTTTTTCTGCA TCATCTCCTGCTAGCACTGACCTTGGCTTGGGATCAGAAATGTCGTCATC TTGCTGTAAAGAAGAAAGATCTTGCCTGAGATGTCAAGGTTGCCTTCTGA GTCAATTCTCAAGAGTTGCCAAACAAGTGCTATATTTCTTTTCTGCAAAG TATTCCTTTTGGAAATGCATGCAGTATAAAATATCAGGTAAGGGGAAAGC TTCATGAAAACAGAGTGACTTGAGAATCCATCTGTTTACTTCCCTTATTC AAGAAATGATATTATTTAAGAAAAAAATTTTGTGGTTATATAATAAGTGT ATAAAGGTGTGATATTAGTAATTACTTACCTTATGCTATTGCCATTATTT GCTCTTGTGGCTTATAGGTGAGAGTATAAAGTTACATGAAATACAAAGAA AAAGCCCTCTGGCATTCAGGCTTTAGATTTTATGTTTTCAATTAATTTCT TTAGGTTTTAAGGAGCACCTACGTAATTGTGTATGTTTGATATAGTATTT TTCCAGGTCCCCCACCATGGCTCCAGTCAAAGTAGCTCTGTTCTTAATGA TTTTATATGTCTGGGTAACTTTTCCTTGAAATCAAATATTCTGAGAACCT GATGCCAGAATCTAGTTTTCATTGTCAATTGTTCAGCTTTACATTGCCTT ACAATTCACACATTTATTTTCGCAAGTCACAAAATACAAAACTCTAAATA GAAAACAATAGCTAAGTGTTTACATACTAGGACTTGTACAAAATAATGTA TGTGGATTGTATCAGGGGTGGGAGAGTTTTTTTTTTGTAAAAAGCCAGAT AGTAAATATTTCAGGCTTTATGGGCCCATGTGGTCTCTCTCACAATTACC CAACTCTCCTGCTACAGGGTGAAACAGCATAGACAATGCGTAAACAAATG GCCATGACTCCGTTCTCATAGAAATTTATTTACAGATGGGCCAGGTTTGG CCCATGGACCATAGTTTGCTAACATTGGATTCCACTATTTAATCTTTGTA AGAGCCCTATAGGTAGAAACTATTATTATTTAGCCATTTTACAGATGAAG AAACTAAAGTCTAGAAAAGCTAAGACTGGCTTTTTCAGTATAACTCCTGA ACTCAGCTATTATTTCTTGAGCTGTTTTCCTGATTACCGCTAAAGAAAAA TATGCAGTGGAAAAATATTTGGGGTCTTATATTTTAGTACTGTGGATGAA AAGAAAACACAATCTTCCTGAGCTACAAGTATAATGTTCCTGCTGTAACT TCTAATCTATTTCTTCAATGTAAATAAGACTGACCCTCCTTGACTCCTAC CTTCCTAAAAGACTTGATCCTAGTTGATAGAGGTCAAGGTTGTGG	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33827171	A A	ACCACAAC others(2014): Show ACCACAACCTTGACCTCTATCAACTAGGATCAAGTCTTTTAGGAAGGTAG GAGTCAAGGAGGGTCAGTCTTATTTACATTGAAGAAATAGATTAGAAGTT ACAGCAGGAACATTATACTTGTAGCTCAGGAAGATTGTGTTTTCTTTTCA TCCACAGTACTAAAATATAAGACCCCAAATATTTTTCCACTGCATATTTT TCTTTAGCGGTAATCAGGAAAACAGCTCAAGAAATAATAGCTGAGTTCAG GAGTTATACTGCAAAAGCCAGTCTTAGCTTTTCTAGACTTTAGTTTCTTC ATCTGTAAAATGGCTAAATAATAATAGTTTCTACCTATAGGGCTCTTACA AAGATTAAATAGTGGAATCCAATGTTAGCAAACTATGGTCCATGGGCCAA ACCTGGCCCATCTGTAAATAAAGTTCTATGAGAACGGAGTCATGGCCATT TGTTTACGCATTGTCTATGCTGTTTCACCCTGTAGCAGGAGAGTTGGGTA ATTGTGAGAGAGACCACATGGGCCCATAAAGCCTGAAATATTTACTATCT GGCTTTTTACAAAAAAAAAACTCTCCCACCCCTGATACAATCCACATACA TTATTTTGTACAAGTCCTAGTATGTAAACACTTAGCTATTGTTTTCTATT TAGAGTTTTGTATTTTGTGACTTGCGAAAATAAATGTGTGAATTGTAAGG CAATGTAAAGCTGAACAATTGACAATGAAAACTAGATTCTGGCATCAGGT TCTCAGAATATTTGATTTCAAGGAAAAGTTACCCAGACATATAAAATCAT TAAGAACAGAGCTACTTTGACTGGAGCCATGGTGGGGGACCTGGAAAAAT ACTATATCAAACATACACAATTACGTAGGTGCTCCTTAAAACCTAAAGAA ATTAATTGAAAACATAAAATCTAAAGCCTGAATGCCAGAGGGCTTTTTCT TTGTATTTCATGTAACTTTATACTCTCACCTATAAGCCACAAGAGCAAAT AATGGCAATAGCATAAGGTAAGTAATTACTAATATCACACCTTTATACAC TTATTATATAACCACAAAATTTTTTTCTTAAATAATATCATTTCTTGAAT AAGGGAAGTAAACAGATGGATTCTCAAGTCACTCTGTTTTCATGAAGCTT TCCCCTTACCTGATATTTTATACTGCATGCATTTCCAAAAGGAATACTTT GCAGAAAAGAAATATAGCACTTGTTTGGCAACTCTTGAGAATTGACTCAG AAGGCAACCTTGACATCTCAGGCAAGATCTTTCTTCTTTACAGCAAGATG ACGACATTTCTGATCCCAAGCCAAGGTCAGTGCTAGCAGGAGATGATGCA GAAAAAGACTGGGCATACACAGGGGCAGAAAAACAGCCCCAGGCTAGGAG GACCTGGAAAATGTAACTGAAAAACTATTCTTCAAAGCCAGTTGTGAACA GCAGCAACCCCATCCAGGAAGACTACATGGTTACACTTGGCAGGCTGTGC GGAACAGATGAGGCAGTGTGACACAGTCAAGTCACCCACAAGAACGTGGC ATTTTTGTGGTGTTTGAAACATTTCAGCTAGATAAGCCTAAATTGGCTTC CTTTATAGCAAAACTACCTGCCACTCATTATATTCATGCCAATATCAGGT TCCTCATGGGGCATGCTATGACATATTTACCCCCAGACCAACTCAGGATT TAAAAGGAAGATGAGATATTTATAGGCTAGGAATTCTCTAATGGACACGC TAATGAACAAATAAATGTGAAACCATCTCCTAAAGATCAAGGATACCAGA AAAAAAAAAAAAACTGATCCCTAGGTCAGTGTGATATGCCGACTTCCAAG ATGGCTCCCAAGATTCCAAGCCCTGGAGTAGGCACGACTCCCAGTCATTC AAAGGAACACTAATCTACATGCTGTGTGAAGGGACTGTGCTGATGTAAGT AGGGTTCCAAAACAGTCGACCTTAAAATACGGAGATTATCAGGGTGACCA TGGCCTAATCACAGAGCTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03579.hp2 HG02258.hp2 HG03579.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0052 a0002c0002 a0008c0052	a0002c0002t0002 a0008c0052t0027 a0002c0002t0002 a0008c0052t0027	a0002c0002t0002g0212 a0008c0052t0027g0224 a0002c0002t0002g0212 a0008c0052t0027g0224	2	224	0.0089	2021	c.489 others(2040): Show c.489+53947_489+53948insAAAGAGCTCTGTGATTAGGCCATGGT CACCCTGATAATCTCCGTATTTTAAGGTCGACTGTTTTGGAACCCTACTT ACATCAGCACAGTCCCTTCACACAGCATGTAGATTAGTGTTCCTTTGAAT GACTGGGAGTCGTGCCTACTCCAGGGCTTGGAATCTTGGGAGCCATCTTG GAAGTCGGCATATCACACTGACCTAGGGATCAGTTTTTTTTTTTTTTCTG GTATCCTTGATCTTTAGGAGATGGTTTCACATTTATTTGTTCATTAGCGT GTCCATTAGAGAATTCCTAGCCTATAAATATCTCATCTTCCTTTTAAATC CTGAGTTGGTCTGGGGGTAAATATGTCATAGCATGCCCCATGAGGAACCT GATATTGGCATGAATATAATGAGTGGCAGGTAGTTTTGCTATAAAGGAAG CCAATTTAGGCTTATCTAGCTGAAATGTTTCAAACACCACAAAAATGCCA CGTTCTTGTGGGTGACTTGACTGTGTCACACTGCCTCATCTGTTCCGCAC AGCCTGCCAAGTGTAACCATGTAGTCTTCCTGGATGGGGTTGCTGCTGTT CACAACTGGCTTTGAAGAATAGTTTTTCAGTTACATTTTCCAGGTCCTCC TAGCCTGGGGCTGTTTTTCTGCCCCTGTGTATGCCCAGTCTTTTTCTGCA TCATCTCCTGCTAGCACTGACCTTGGCTTGGGATCAGAAATGTCGTCATC TTGCTGTAAAGAAGAAAGATCTTGCCTGAGATGTCAAGGTTGCCTTCTGA GTCAATTCTCAAGAGTTGCCAAACAAGTGCTATATTTCTTTTCTGCAAAG TATTCCTTTTGGAAATGCATGCAGTATAAAATATCAGGTAAGGGGAAAGC TTCATGAAAACAGAGTGACTTGAGAATCCATCTGTTTACTTCCCTTATTC AAGAAATGATATTATTTAAGAAAAAAATTTTGTGGTTATATAATAAGTGT ATAAAGGTGTGATATTAGTAATTACTTACCTTATGCTATTGCCATTATTT GCTCTTGTGGCTTATAGGTGAGAGTATAAAGTTACATGAAATACAAAGAA AAAGCCCTCTGGCATTCAGGCTTTAGATTTTATGTTTTCAATTAATTTCT TTAGGTTTTAAGGAGCACCTACGTAATTGTGTATGTTTGATATAGTATTT TTCCAGGTCCCCCACCATGGCTCCAGTCAAAGTAGCTCTGTTCTTAATGA TTTTATATGTCTGGGTAACTTTTCCTTGAAATCAAATATTCTGAGAACCT GATGCCAGAATCTAGTTTTCATTGTCAATTGTTCAGCTTTACATTGCCTT ACAATTCACACATTTATTTTCGCAAGTCACAAAATACAAAACTCTAAATA GAAAACAATAGCTAAGTGTTTACATACTAGGACTTGTACAAAATAATGTA TGTGGATTGTATCAGGGGTGGGAGAGTTTTTTTTTTGTAAAAAGCCAGAT AGTAAATATTTCAGGCTTTATGGGCCCATGTGGTCTCTCTCACAATTACC CAACTCTCCTGCTACAGGGTGAAACAGCATAGACAATGCGTAAACAAATG GCCATGACTCCGTTCTCATAGAACTTTATTTACAGATGGGCCAGGTTTGG CCCATGGACCATAGTTTGCTAACATTGGATTCCACTATTTAATCTTTGTA AGAGCCCTATAGGTAGAAACTATTATTATTTAGCCATTTTACAGATGAAG AAACTAAAGTCTAGAAAAGCTAAGACTGGCTTTTGCAGTATAACTCCTGA ACTCAGCTATTATTTCTTGAGCTGTTTTCCTGATTACCGCTAAAGAAAAA TATGCAGTGGAAAAATATTTGGGGTCTTATATTTTAGTACTGTGGATGAA AAGAAAACACAATCTTCCTGAGCTACAAGTATAATGTTCCTGCTGTAACT TCTAATCTATTTCTTCAATGTAAATAAGACTGACCCTCCTTGACTCCTAC CTTCCTAAAAGACTTGATCCTAGTTGATAGAGGTCAAGGTTGTGG	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2014): Show CGGCCTCCCAAAGTGCTGGGATGACGGGCTTGAGCTACTTTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCC AGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTCTG CCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGGGA TTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGAG ACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAAG TGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCC ACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATC CAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCT CACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTC AGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCA TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGC CAAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCAC CCAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTAC AGGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAG GGTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGAT CCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTG CACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATA CGTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAG GTTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCT GGCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTC TCGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGC AACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGT AGCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATT TTTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAGG CATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAG GGCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAG GAGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTG GCCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAG GTGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAG GCAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGAT CATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAGA AAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAA ATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGG GAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCT CTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCA ACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTA GCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTT AGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGG CCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	159	0.0063	2021	c.-90 others(2036): Show c.-90-158_-90-157insGACGGGCTTGAGCTACTTTGCCCGGCCTTT TTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCCAG GCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTCTGCC TCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGGGATT AGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAGAGAC GGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAAGTG ATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCAC TGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCA GTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCA CTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAG CCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCATT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCA AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCC AGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAG GCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGG TTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCC ACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCA CCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACG TGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGT TTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGG CTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAA CCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAG CTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTT TAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATGACAGGCA TGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGG CAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGA GTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGC CAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGT GTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAGAAA AAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAAT CTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGA GATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCT CTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAAC CTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGC TGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTTAG CAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCC TCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGGAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274576	C C	CGGCCTCC others(2014): Show CGGCCTCCCAAAGTGCTGGGCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTC TGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGG GATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAG AGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTA AGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAG CCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCC AGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTC ACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCA GCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCAT TTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCA GGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGG CACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGT TTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCA CCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCAC CCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGT GTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTT TCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGC TCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG CTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAAC CTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGC TGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTT AGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGC AGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAG TCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCC AACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTG TAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCAT GCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAA AAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAA ATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGG GAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCT CTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCA ACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTA GCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTT AGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGG CCTCAGGTGATCCACCAGCCTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA18975.hp1 HG01167.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0111 a0001c0002t0004g0110 a0001c0002t0003g0111 a0001c0002t0004g0110	2	159	0.0126	2021	c.-90 others(2036): Show c.-90-160_-90-159insCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCAC CCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCTC TGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGG GATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTAG AGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTA AGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAG CCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCC AGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTC ACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCA GCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTCAT TTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACCCA GGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGG CACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGT TTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCA CCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGCAC CCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATACGT GTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTT TCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTGGC TCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCG CTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCAAC CTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGC TGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTTTT AGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAGGCAT GAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGGGC AGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAG TCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCC AACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTG TAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCAT GCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAAAA AAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGAA ATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAGG GAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCT CTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCA ACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTA GCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTTT AGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGG CCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1274593	G G	GGGCTGAC others(2014): Show GGGCTGACGGGCTTGAGCTACTGTGCCCGGCCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAG TGGTGCGATCTCAGCTCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAA ATGATTCTCCTGCCTCAGGCTCTCGAGTCACTGGGATTAGAGGCACTCAC CACCACGCCCAGCTAATTTTTCTATTTTTAGTAGAGACGGGGCTTCACCA TCTTGGCCAGGCTGTTCTTGAACTTCTGACCTTAAGTGATCCACCTGCCT CGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACTGTGCCCGGACT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCA CCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGCTCACTCTCACTGCAACC TCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAGCCTCCTGAGTCACT GGGATTACAGGCATGGACCACCACACGCAGCTCATTTTTTTTTTTTTTTT TTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCCAAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAACCTCCGTCACCCAGGTTCAAGAGATTCT CCTGCCTCAACCTCCCGAGTAGCTGAGATTACAGGCACCTGCCACCGCGC CCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCC AGGCTGTTCTCGAACTCCTGGCCTCAAGTGATCCACCTGCCTCGGCCTCC CAAAGTGCTGGGATGACAGGCATGAGCCACTGCACCCGGCCGCTTTTATA CATTTTAGGGATATATGAGACATCAATCAATACGTGTAAGATATGCATTG ATGATGTCCGGTAAGTCCCTAAGTGACAAAAGGTTTCATTCGAGTCCTTG ATCAGTTTTCCACAGAATACACAGTTTAGCCTGGCTCAGTAAATCTGCAT TTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGC TGGAGTGCAGTCATGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGT TCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTAGCTGGGACTACAGGCTC CCACCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAAAGACGGGGTT TCACCCTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCC ATCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACCGCGCCCA GCCCTAAATCTGCATTTTTACATGAACAATAGGGCAGAGGAGCTGGGCAC GGTGGCTCACCCCTGTAATTCCAGCTCTTCAGGAGTCCGAGTCGGGTGGA TCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGGAACCC CCGTCTCTACTGAAAGTACAAAAATTAGCCAGGTGTAGTGTGGTGGTGGG TGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAA TCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTGCACTCCAG CCTGGGCAACAGAGCGAAACTCTTATATAAAAAAAAAAAAAAAAAAAAAA AAAGGTAGGGGAGAGGAAACAATCAGACTTTGAAATCTGTTTGTCCTTTG TCTCCAACGATTTCCTTGTGGCCAGATTGTGAGGGAGATATGTAGTTCTT TTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAGG CTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCAGA TTCAAGCAATTCTACTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCA TGCACTACCATGCCCAACTAATTTTTGTATTTTTAGCAGAGAAAGGGTTT CTCCACGTTGGCCAGGCTGGTGTCAAACTCCTGGCCTCAGGTGATCCACC AGCCTTGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	159	0.0063	2021	c.-90 others(2036): Show c.-90-160_-90-159insCTGACGGGCTTGAGCTACTGTGCCCGGCCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATCCAGTCTTGCTCTGTCA CCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTCTCACTGCAACCT CTGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGGCTCTCGAGTCACTG GGATTAGAGGCACTCACCACCACGCCCAGCTAATTTTTCTATTTTTAGTA GAGACGGGGCTTCACCATCTTGGCCAGGCTGTTCTTGAACTTCTGACCTT AAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCGTGA GCCACTGTGCCCGGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAT CCAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTCGGC TCACTCTCACTGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCT CAGCCTCCTGAGTCACTGGGATTACAGGCATGGACCACCACACGCAGCTC ATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTAGCC AAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGTCACC CAGGTTCAAGAGATTCTCCTGCCTCAACCTCCCGAGTAGCTGAGATTACA GGCACCTGCCACCGCGCCCGGCTAATTTTTGTATTTTCAGTAGAGACAGG GTTTCACCATGTTGGCCAGGCTGTTCTCGAACTCCTGGCCTCAAGTGATC CACCTGCCTCGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCACTGC ACCCGGCCGCTTTTATACATTTTAGGGATATATGAGACATCAATCAATAC GTGTAAGATATGCATTGATGATGTCCGGTAAGTCCCTAAGTGACAAAAGG TTTCATTCGAGTCCTTGATCAGTTTTCCACAGAATACACAGTTTAGCCTG GCTCAGTAAATCTGCATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCT CGCTCTGTTGCCCAGGCTGGAGTGCAGTCATGCGATCTTGGCTCACTGCA ACCTCCGCCTCCTGGGTTCAAGCTATTCTCCTGCCGCAGCCTCCTGAGTA GCTGGGACTACAGGCTCCCACCACCATGCCCAGCTAATTTTTTTGTATTT TTAGTAAAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCTGCCCATCTTGGCCTCCCAAAGTGCTGGGATGACAGGC ATGAGCCACCGCGCCCAGCCCTAAATCTGCATTTTTACATGAACAATAGG GCAGAGGAGCTGGGCACGGTGGCTCACCCCTGTAATTCCAGCTCTTCAGG AGTCCGAGTCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGG CCAACATAGTGGAACCCCCGTCTCTACTGAAAGTACAAAAATTAGCCAGG TGTAGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGG CAGGAGAATCGCTTAAATCTCCCAGGCGGAGGTTGCAGTGAGTGGAGATC ATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAAACTCTTATATAAAAA AAAAAAAAAAAAAAAAAAAAGGTAGGGGAGAGGAAACAATCAGACTTTGA AATCTGTTTGTCCTTTGTCTCCAACGATTTCCTTGTGGCCAGATTGTGAG GGAGATATGTAGTTCTTTTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTC TCTCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGC AACCTCCGCCTCCCAGATTCAAGCAATTCTACTGCCTCAGCCTCCAGAGT AGCTGGGATTACAGGCATGCACTACCATGCCCAACTAATTTTTGTATTTT TAGCAGAGAAAGGGTTTCTCCACGTTGGCCAGGCTGGTGTCAAACTCCTG GCCTCAGGTGATCCACCAGCCTTGGCCTCCCAAAGTGCTGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK2_chr3_196734857_196837647	196811204	T T	TTCCCTCC others(2014): Show TTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCC TTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCCTCCCTTCCT TCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCCTTCCCTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCTT CCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTCCCTCCCTTCCCTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTTCCTTCCCTACCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0017 a0001c0001t0022g0017	1	178	0.0056	2021	c.773 others(2036): Show c.773+554_773+555insCTCCCTTCCTTCCCTTCCCTACCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTTCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCTTCCCTACCCTCCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCC CTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTACCCT CCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCTTCCC TTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCC TTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCT TCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTT CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCC TTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAM16_chr16_4335251_4356321	4344647	A A	AGGGGACT others(2014): Show AGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGTGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAG GGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGA GGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTG TGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGT TCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGATTGTGTGAGAGAAGGGGGTTCTGTGAGAG GAGGGGACTGTGTGAGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGA GGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGT GAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTT CTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GGTTCTCTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTCTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAG GGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGA GGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGT GAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTT CTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GACTGTGTGAGAGGAGGGGGTTCTCTGAGAGGAGGGGACTGTGTGAGAAG AGGGGGTTCTCTGAGAGGAGGGGGTTCCGTGAGAGGACGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTTC CGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGG GTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGA GGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCG TGAGAGGAGGGGATTGTGTGAGGGGGGGGGGTTCCGTGAGAGGAGGGGGT TCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGGGGGG GGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAGG AGGGGATTGTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGGTT CCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGGG GACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGATTGTGTGAGGGG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	367	0.0027	2021	c.4-1 others(2034): Show c.4-1357_4-1356insCCCCTCACACAATCCCCTCCTCTCACGGAACC CCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTC ACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCC TCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCT CCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACC CCCTCCTCTCACACAGTCCCCTTCTCTCACACAATCCCCTCCTCTCACAG AACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCCCCCTCA CACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCCT CTCACGGAACCCCCCCCCCTCACACAATCCCCTCCTCTCACGGAACCCCC TCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAAC CCCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCACA CAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTC TCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCT CCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACC CCGTCCTCTCACGGAACCCCCTCCTCTCAGAGAACCCCCTCTTCTCACAC AGTCCCCTCCTCTCAGAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTC ACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCC TCTCACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCC CTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAA CCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCAC ACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTC TCAGAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCT CCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATC CCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAG AACCCCCTCCTCTCACAGAACCCCCTCCTCTCAGAGAACCCCCTCCTCTC ACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCC TCTCACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCC CTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACACAA TCCCCTCCTCTCACGGAACCCCCTCTCACACAGTCCCCTCCTCTCACAGA ACCCCCTTCTCTCACACAATCCCCTCCTCTCACAGAACCCCCTCCTCTCA CAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCT CTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCC TCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAAT CCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCTCACAGAA CCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCAC GGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTC TCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCT CCTCTCACACAGTCACCTCCTCTCACGGAACCCCCTCCTCTCACAGAACC CCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344746	T T	TGTGAGAG others(2014): Show TGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGATTGTGTGAGAGGAGGGG GTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGA GGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGGGGTTCCGTGAGAGG AGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGA TTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAG GGGATTGTGTGAGAGAAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGA GGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGACTGTGTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTG TGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTCTGAGAGGAGG GGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTG AGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTC TGTGAGAGGAGGGGGTTCTCTGAGAGGAGGGGGTTCTGTGAGAGGAGGGG GTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGA GGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTG TGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGAC TGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGG GGGTTCTCTGAGAGGAGGGGACTGTGTGAGAAGAGGGGGTTCTCTGAGAG GAGGGGGTTCCGTGAGAGGACGGGGTTCTGTGAGAGGAGGGGGTTCCGTG AGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTC CGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGGGGGTT CCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGAGG AGGGGGTTCTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGA GAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCC GTGAGAGGAGGGGATTGTGTGAGGGGGGGGGGTTCCGTGAGAGGAGGGGG TTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGATTGTGTGAGGGGGG GGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCTGTGAGAG GAGGGGATTGTGTGAGAGAAGGGGACTGTGTGAGAGGAGGGGGTTCCGTG AGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTC TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGGAGGGGGT TCCGTGAGAGGAGGGGATTGTGTGAGAGGAGGGGGTTCTGTGAGAGAAGG GGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAG GAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTG AGAGGAGGGGATTGTGTGAGGGGGGGGGTTCCGTGAGAGGAGGGGGTTCC GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGA TTGTGTGAGAGGGGGGGGTTCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01515.hp1 HG01517.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0210 a0001c0001t0001g0047 a0001c0001t0001g0210	3	367	0.0082	2021	c.4-1 others(2034): Show c.4-1456_4-1455insGGAACCCCCCCCTCTCACACAATCCCCTCCTC TCACGGAACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCT CCTCTCACGGAACCCCCCCCCTCACACAATCCCCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGA ACCCCCTCCTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTTCTCTCA CAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTC CTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACCC CCTCCTCTCACACAGTCCCCTTCTCTCACACAATCCCCTCCTCTCACAGA ACCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCCCCCTCAC ACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTCCTC TCACGGAACCCCCCCCCCTCACACAATCCCCTCCTCTCACGGAACCCCCT CCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACGGAACC CCCTCCTCTCACACAGTCCCCTTCTCTCACAGAACCCCCTCCTCTCACAC AATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTC ACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCT CACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACGGAACCCCCTC CTCTCACGGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCC CCTCCTCTCACAGAACCCCGTCCTCTCACGGAACCCCCTCCTCTCAGAGA ACCCCCTCTTCTCACACAGTCCCCTCCTCTCAGAGAACCCCCTCCTCTCA CACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCT CTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATCCCC TCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGT CCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATCCCCTCCTCTCACG GAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCAGAGAACCCCCTCCTCTCACAGAACCCCCTC CTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCC CCTCCTCTCACACAATCCCCTCCTCTCACAGAACCCCCTCCTCTCACACA GTCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCA GAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCT CTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATCCCC TCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGT CCCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCTCACACAG TCCCCTCCTCTCACAGAACCCCCTTCTCTCACACAATCCCCTCCTCTCAC AGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAATCCCCTCCTC TCACGGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACCCCCT CCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCTCTCACAGAACC CCCTCCTCTCACACAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACGG AACCCCCTCTCACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACA CAATCCCCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCT CACACAATCCCCTCCTCTCACACAATCCCCTCCTCTCAC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(2014): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGCGG GGTGTGGGGATGCACTGAGTCTGGGGGGAGGGTGGGGTGTGGGGATGCAC TGAGTCTGGGGGGAGGGTGGGGTGTGGGGATGCACTGAGTCTGGGGGGAG GGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGTGGGGTGTGGGGA TGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGG GGGAGGGTGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGTGGGGTGT GGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGGAGGGTGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGG GGTGTGGGGATGCACTGAGTCTGGGGGGAGGGTGGGGTGTGGGGATGCAC TGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGC ACTGAGTCTGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGAG GGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGAT GCACTGAGTCTGGGGGGGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGG AGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGG ATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGG GGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGG GGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTG GGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGT GGGGATGCACTGAGTCTGGGGGAGGGGGGGGGCGTGGGGATGCACTGAGT CTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGG GTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTG AGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCAC TGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGC ACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGATG GGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGGTGTGGGGA TGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGG ATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGCGTGGG GATGCACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGG GGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGG GATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTG GGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGT GGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	282	0.0036	2021	c.299 others(2036): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCAGACTC AGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACGCC CCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGAC TCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACA CCCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCA GACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCC ACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCC CAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCC CCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCC CCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCAT CCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCC TCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTG CATCCCCACGCCCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCAGACTCA GTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCC CCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACT CAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCGCCCCCCCCCAGACTCAGTGCATCCCCAC ACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCA GACTCAGTGCATCCCCACGCCCCGCCCTCCCCCAGACTCAGTGCATCCCC ACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCC CAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCC CCACACCCCACCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTC CCCCCAGACTCAGTGCATCCCCACACCCCACCCTCCCCCCAGACTCAGTG CATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCA CCCTCCCCCCAGACTCAGTGCATCCCCACACCCCACCCTCCCCCCAGACT CAGTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACA CCCCACCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCC AGACTCAGTGCATCCCCACACCCCACCCTCCCCCCAGACTCAGTGCATCC CCACACCCCACCCTCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTC CCCCAGACTCAGTGCATCCCCACGCCCCCCCCTCCCCCAGACTCAGTGCA TCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGCCC ATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTG CATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCGC CCATCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAG TGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCATGCCCC GCCCTCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88731928	C C	CGGGGTGT others(2014): Show CGGGGTGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATGGGGATG CACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGA GGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGA TGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGG GAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGG GATGCACTGAGTCTGGGGGGATGGGCGGGGCGTGGGGATGCACTGAGTCT GGGGGAGGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGTGT GGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGAGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGC ACTGAGTCTGGGGATGGGTGGGGTGTGGGGATGCACTGAGTCTGGGGGAG GGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGTGTGGGGATGC ACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCA CTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGG GGGGGGTGTGGGGATGCACTGAGTCTGGGGGGGGGGGTGTGGGGATGCAC TGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGG GGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGAGGGGGTGTGGGGATG CACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG AGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGGGGGGGGGTGTGGGG ATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGG GAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGAGGGGGTGTGGG GATGCACTGAGTCTGGGGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGG GGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGAGGGGGTGTGG GGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTG GGGGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGT GGGGATGCACTGAGTCTGGGGGGAGGGGGGGTGTGGGGATGCACTGAGTC TGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGGT GTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAG TCTGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGGGGGGTGTGGGG ATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGG GGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGAT GCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG AGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGAGGGGGGTGTGGG GATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGG GGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGA TGCACTGAGTCTGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0019 a0019	a0019c0152 a0019c0152	a0019c0152t0001 a0019c0152t0001	a0019c0152t0001g0154 a0019c0152t0001g0154	1	282	0.0036	2021	c.299 others(2036): Show c.2992-19_2992-18insCCCCTCCCCCAGACTCAGTGCATCCCCACA CCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCAGACTC AGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACC CCCCTCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCAC ACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCCCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCAGACTCAGTG CATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCC CCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCAGACTCAGTGC ATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCC CATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGT GCATCCCCACACCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCCCCCAGACTCA GTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCC CCTCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCCCCAGACTC AGTGCATCCCCACACCCCCCCCCCCCCCAGACTCAGTGCATCCCCACACC CCCTCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGAC TCAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACAC CCCCCCCCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGA CTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCA CACCCCCTCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCC AGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCC CCACACCCCCCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCC AGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCC CACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCCA GACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCC ACACCCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCA GACTCAGTGCATCCCCACACCCCACCCATCCCCAGACTCAGTGCATCCCC ACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCC AGACTCAGTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCC CCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCT CCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCTCCCCAGACTCAGTG CATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCC CCTCCCCCAGACTCAGTGCATCCCCACGCCCCCCCCTCCCCCAGACTCAG TGCATCCCCACGCCCCGCCCATCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACA CCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCA TGCCCCGCCCTCTCCCCAGACTCAGTGCATCCCCACACCCC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar

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