Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(657): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AAAGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTCGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC CGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACA GGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAA AATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGAC CAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTA GCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp2 HG01169.hp2 others(38): Show HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0005	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 others(36): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0007g0089 a0001c0002t0005g0100 a0001c0002t0005g0101	41	290	0.1414	664	c.233 others(681): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAACAAAAAACAAAAAAACTTGTATTTCTTTTTTATTTTTATTT TTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGC GATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(657): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AAAGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTTGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTAGTAAGGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC CGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACA GGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAA AATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGAC CAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTA GCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	290	0.0035	664	c.233 others(681): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCCTTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCAAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAACAAAAAACAAAAAAACTTGTATTTCTTTTTTATTTTTATTT TTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGC GATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(657): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AAAGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTTGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC CGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACA GGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAA AATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGAC CAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTA GCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01109.hp1 others(44): Show HG00544.hp2 HG00609.hp1 HG01109.hp1 HG01243.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG06807.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18963.hp1 NA18969.hp2 NA19000.hp1 NA19003.hp2 NA19012.hp2 NA19057.hp1 NA19065.hp1 NA19070.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19087.hp1 NA19090.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(44): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0006g0086 a0001c0004t0001g0032 a0002c0003t0001g0023	47	290	0.1621	664	c.233 others(681): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCAAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAACAAAAAACAAAAAAACTTGTATTTCTTTTTTATTTTTATTT TTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGC GATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(657): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AACGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTCGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC CGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACA GGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAA AATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGAC CAGCCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTA GCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(179): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0008g0160 a0001c0001t0009g0157 a0001c0001t0010g0171 a0001c0001t0011g0133	194	290	0.6690	664	c.233 others(681): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAACAAAAAACAAAAAAACTTGTATTTCGTTTTTATTTTTATTT TTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGC GATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48499782	T T	TGAACCTG others(657): Show TGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACGATTGCACT CCAGTCTAGATGCCAGAGCAAGACTCTGTCTCAAAAAAAATAAAAATAAA AACGAAATACAAGTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAGAGTCT CTTGCTCTGTCACCCAGCCAGGAGTGCAATGGTGCAATCTCGGCTCACTG CAATCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGGTTACAGAAACCCACCACCACGTCCGGCTAGTTTTTTGTGTT TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCC CGACCTCAGGTGATCTGCCTGCCTGGACCTCCCAAAGTGCTGGCATTACA GGCATGAGCCACCGCGCCCGGTTTTTAAATGTTTTTAAAGACATTTGTAA AATATAAAAATGCCAGGCTGGGTGCTATGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGTCGAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGAC CAGGCTGGCCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTA GCCGGGCGTAGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	290	0.0035	664	c.233 others(681): Show c.233+1354_233+1355insCAGCGATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACAGGCGTGCGCCACTACGCCCGGCTAATTTTGTATTT TTAGTAGAGACGGGGTTTCTCCATGTTGGCCAGCCTGGTCTTGAACTCCC GACCTCAGGTGATCTGCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCATAGCACCCAGCCTGGCATTTTTATATTTTACAAATGTCTT TAAAAACATTTAAAAACCGGGCGCGGTGGCTCATGCCTGTAATGCCAGCA CTTTGGGAGGTCCAGGCAGGCAGATCACCTGAGGTCGGGAGTTCAAGACC AGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAACACAAAAAACT AGCCGGACGTGGTGGTGGGTTTCTGTAACCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTGGAACCCGGGAGGCGGAGATTGCAGTGAGCCGAGA TTGCACCATTGCACTCCTGGCTGGGTGACAGAGCAAGAGACTCTGTCTCA AAAAAAAAACAAAAAACAAAAAAACTTGTATTTCGTTTTTATTTTTATTT TTTTTGAGACAGAGTCTTGCTCTGGCATCTAGACTGGAGTGCAATCGTGC GATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTC	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SLAIN1_chr13_77692687_77769229	77703950	A A	AAATATAT others(657): Show AAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAATAT ATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGT TTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATAT ATATACATATGTTTTATATGTGTATATATACACATATAAAATATATATAC ATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTA TATGTATATATATACATATAAAATATATATACATATAAAATATATATGTT TTATATGTATATATACATATAAAATATATATACATATGTTTTATATGTAT ATATATACATATAAAACATATATACATATGTTTTATATGTGTATATATAC ATAGAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	300	0.0033	664	c.626 others(681): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTGTATATATACACATATAAAATATAT ATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATATGTTTT ATATGTATATATACATATAAAATATATATACATATGTTTTATATGTATAT ATATACATATAAAACATATATACATATGTTTTATATGTGTATATATACAT AGAAAATATATATAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(657): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAGGAGGGGGGAGGAGGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAGA GGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0111 a0002c0003t0001g0111	1	350	0.0029	664	c.624 others(679): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTCTCTCCTCCT CCCCTCCTCCTCTCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCT CCTCTCCTCCTCCCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCCT CCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTT CTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTT CTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCC CCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCC CTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCC TCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCC CTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCT CCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(657): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGGAGGAGGAGGAAG TGAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAG AGAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAG GGGGGAGGGAGAGGAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAAGA GGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0113 a0002c0003t0001g0113	1	350	0.0029	664	c.624 others(679): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTCCTCTCCCTCCCCCCTCTTCTCTCCTCCT CCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTCTCTCCTCCTCCCCTCC TCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCTCCTCCTCCCCTCCTTT CTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCTCCTCCTTTC TCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCC CCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCC CTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCC TCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCC CTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCT CCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(657): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGG AAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGG AGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGG AGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGA GGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	350	0.0029	664	c.624 others(679): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCT TTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCT TTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCT CCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCT CCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCC CCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCT CCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTC CTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(657): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATACATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATAGTATATATTATATATTGTATATATAATATATATAGTATATATTA TATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	156	0.0064	664	c.176 others(681): Show c.176-5096_176-5095insTATATATACAATATATAATATATACTAT ATATATTATATATACAATATATAATATATACTATATATATTATATATACA ATATATAATATATACAATATATATATTATATATACAATATATAATATATA CAATATATATATTATATATACAATATATAATATATACAATATATATATTA TATATACAATATATAATATATACAATATATATATTATATATACAATATAT AATATATACAATATATATATTATATATACAATATATAATATATACAATAT ATATATTATATATACAATATATAATATATACAATATATATTATATATACA ATATATAATATATACAATATATATATTATATATACAATATATAATATATA CAATATATATATTATATATACAATATATAATATATACAATATATATATTA TATATACAATATATAATATATACAATATATATATTATATATACAATATAT AATATATACAATATATATATTATATATACAATGTATAATATATACAATAT ATAATATATACTATATATATTATATACAATATATAATATATACTATATAT ATTATATACAATATATAATATATACTATATATATTATATATACAATATAA AATATATATAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(657): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG AAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGG AGGGAGGGGAGAGGGGAGGGGGGAGGGGAGAGGGGAGAGGAGGGGGAGGG GGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	664	c.12 others(675): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCC TCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCC CCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCT CCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCTTCCCCTCCCCTCC CCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCC TCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCT CTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCTCT CCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCT CCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCT CCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCT TCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(657): Show TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	112	0.0089	664	c.62+ others(679): Show c.62+9766_62+9767insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128187	C C	CCCCCATC others(657): Show CCCCCATCCTCCCTCCACCCCACCCATCCCCCCATCCTCCCTCCACCCCA CCCATCCTCTCCTCCGCCCAACCCATCCCCCCTCCCCTCACCCATCCCTC ATCCCCCCTCCACCCCACACATCCCCCATCCTCCCTCCACCCCACCCATC CCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACC CATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCC CACCCATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCC ACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCA TCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTC CGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCA TCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCC TCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCA CCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCC ATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCAT CCTCCCTCCACCCCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	112	0.0089	664	c.142 others(685): Show c.1425+16587_1425+16588insCATCCTCCCTCCACCCCACCCATC CCCCCATCCTCCCTCCACCCCACCCATCCTCTCCTCCGCCCAACCCATCC CCCCTCCCCTCACCCATCCCTCATCCCCCCTCCACCCCACACATCCCCCA TCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCC CCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCC ATCCCCCATCCTCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCC ACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCAC CCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCC CTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCAC CCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCC CTCCGCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCTCCGCCC CACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCC CCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCC CTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	376905	G G	GCCCCACC others(657): Show GCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCC CGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCC CCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTTAGTGCCCCCACCCAGCCTCTCCCCC TGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	370	0.0027	664	c.-93 others(673): Show c.-936_-935insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGG CACTAAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGC ACGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGG GGCACAGGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		880		chr19	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTGT others(657): Show CCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCC CCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTG TGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0075 a0001c0001t0032g0075	1	370	0.0027	664	c.-13 others(675): Show c.-1313_-1312insAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACACAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1257		chr19	TogoVar
THEG_chr19_356747_381026	377283	C C	CCCCTCTG others(657): Show CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCC ACCCAGCCTCTCCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGT GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCCGTGCCCCCACCCAGCCTCTCCCCCC CCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGC CTCTCCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0073 a0001c0001t0018g0073	1	370	0.0027	664	c.-13 others(675): Show c.-1314_-1313insAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGGCACGGGG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGG GGGCACGGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTG GGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGA GGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1258		chr19	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(657): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTTTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTTTCTGTCTCTCTCTGTCTCTTTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	256	0.0039	664	c.924 others(681): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACA GAGAGAGACAGAAAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(657): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTCCTCTC CTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCT CCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCTCCTC CTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTC CTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02735.hp1 HG01993.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0295 a0001c0001t0002g0240 a0001c0001t0001g0295 a0001c0001t0002g0240	2	384	0.0052	664	c.424 others(681): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCT TCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTC CCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCT CCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM48_chr11_55257155_55276114	55273400	A A	ATTATATA others(657): Show ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATAAAAATTATATATATTATATATAT AAAAATTATATATATATTATATATATAAAAATTATATATATATTATATAT ATAAAAATTATATATATATTATATATATATAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATATAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATATAATATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	272	0.0037	664	c.29 others(675): Show c.2965_*2966insTTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATAAAAATTAT ATATATTATATATATAAAAATTATATATATATTATATATATAAAAATTAT ATATATATTATATATATAAAAATTATATATATATTATATATATATAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATATAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT AATATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2287		chr11	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(657): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	338	0.0030	664	c.246 others(683): Show c.246-36120_246-36119insTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(657): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTC ATCCACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTG TGTGTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAG AAAGGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACCCT CCAGGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGGAA GGAGGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATT GCCACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGT CTCACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	1	414	0.0024	664	c.-32 others(675): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGC GATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAG CTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGG ATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAG TGCTGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(657): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTC ATCCACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTG TGTGTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAG AAAGGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACCCT CCAGGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGGAA GGAGGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATT GCCACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGT CTCACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(76): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01106.hp2 HG01109.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18940.hp2 NA18950.hp1 NA18952.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18972.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18989.hp1 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19011.hp2 NA19060.hp1 NA19067.hp1 NA19078.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0045 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0055	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0005g0005 a0001c0001t0006g0008 a0001c0001t0006g0058 a0001c0001t0007g0007 a0001c0001t0009g0009 a0001c0001t0011g0012 a0001c0001t0013g0014 a0001c0001t0013g0038 a0001c0001t0014g0013 a0001c0001t0016g0016 a0001c0001t0017g0017 a0001c0001t0025g0024 a0001c0001t0027g0027 a0001c0001t0028g0028 a0001c0001t0029g0026 a0001c0001t0030g0032 a0001c0001t0031g0033 a0001c0001t0035g0049 a0001c0001t0045g0068 a0001c0001t0046g0069 a0001c0001t0049g0072 a0001c0001t0050g0073 a0001c0001t0055g0077	79	414	0.1908	664	c.-32 others(675): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGC GATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAG CTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGG ATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAG TGCTGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
VCX2_chrX_8164944_8176267	8169203	T T	TCCTCCCT others(657): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCC TCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCTCACACACCACCG CTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCA TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCTCCCTCCCCACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCGCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0035 a0002c0001t0001g0035	1	115	0.0087	664	c.82 others(673): Show c.828_*829insGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGATGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGAGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		740		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(657): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19002.hp1 NA18979.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0238 a0001c0001t0001g0168 a0001c0001t0001g0238	2	408	0.0049	664	c.53+ others(679): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
YBEY_chr21_46281342_46302751	46292638	A A	AACTCTAG others(657): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTG GAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	404	0.0025	664	c.339 others(681): Show c.339+1305_339+1306insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCTGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292989	G G	GAGTCAGC others(657): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGACAGCCACACAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGACA GCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	404	0.0025	664	c.339 others(681): Show c.339+1527_339+1528insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGACAG CCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGAGACAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293066	A A	ACAGCCAC others(657): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCC GGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 HG02559.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0133 a0001c0001t0001g0134	2	404	0.0050	664	c.339 others(681): Show c.339+1611_339+1612insACAAGTTAAACTCTAGATTAAATTCCTC CTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAATCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGT GGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGGGA others(657): Show AGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	404	0.0025	664	c.340 others(681): Show c.340-1471_340-1470insGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294687	A A	AGTGGGGA others(657): Show AGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	404	0.0025	664	c.340 others(681): Show c.340-1471_340-1470insGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCATGCCCGGGACTCGGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(657): Show GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAGTCAGCCACA CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCC CGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	404	0.0025	664	c.340 others(681): Show c.340-1461_340-1460insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCT GGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294693	G G	GTCAGCCA others(657): Show GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCTGGAGTCAGCCACA CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCC CGGGACTCGGTGGAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	404	0.0025	664	c.340 others(681): Show c.340-1461_340-1460insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCT GGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCATGCCCGGGACTCGGTGGAATCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(657): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGG GAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGG AGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAG GGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGG GAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAG AAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	290	0.0035	664	c.205 others(683): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCC TCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTC CCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCC CTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCT CCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCTCCC CTTCCCTCCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCC CTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCAC TCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTT CCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(658): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCC CTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT TCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCC TCCTTCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTC CTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCC CTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0097 a0004c0019t0097	a0004c0019t0097g0055 a0004c0019t0097g0055	1	262	0.0038	665	c.106 others(684): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGAAGGGAGGG AGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAG GAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAA GGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGA AAAGACAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGA AGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAA GGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGG GAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(658): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0001 a0001c0010t0001g0001	1	391	0.0026	665	c.36 others(676): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(658): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGCGTACGGGGCAGGTGAGT AGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGT AGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGT GAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0013 a0009c0016t0013	a0009c0016t0013g0246 a0009c0016t0013g0246	1	338	0.0030	665	c.300 others(682): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGCG TACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(658): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGG CTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGG TTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCACTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01884.hp2 others(2): Show HG01167.hp2 HG01169.hp2 HG01884.hp2 HG02257.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0017 a0001c0001t0022	a0001c0001t0002g0080 a0001c0001t0005g0157 a0001c0001t0009g0134 others(2): Show a0001c0001t0002g0080 a0001c0001t0005g0157 a0001c0001t0009g0134 a0001c0001t0017g0312 a0001c0001t0022g0309	5	324	0.0154	665	c.110 others(682): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGC CCAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATC CCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(658): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCGCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAAT TTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGC TCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACC TCCACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCT GGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTATTTTTAGTG GAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTT GTGATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0152 a0003c0005t0001g0152	1	406	0.0025	665	c.156 others(680): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCGCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTTT TTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACC CAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCC CAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACA GGCGCCTGCCACCACGCCCGGCTAATTTTTTATTTTTAGTGGAGACAGGG TTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCAC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CKAP2_chr13_52450478_52481627	52460703	C C	CGGCCTCC others(658): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT GTTTACACTGTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGAT GGCTCACACTTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCA CCTCAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGT CTCTATTAAAAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAA TCCCAGCTACTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAG GCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAATTTGCTTAGGACAAA TTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGC TCTGTCACCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACC TCCACCTCCCAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCT GGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTG GAGACAGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTT GTGATCCACCTGCCTT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	406	0.0025	665	c.156 others(680): Show c.156-168_156-167insGTGAGCCACCGCGCCCGGCCTGTTTACACT GTTAAAAATAATTAAAAGTTTTGCTTAGGGCTGGGCGTGATGGCTCACAC TTGTAATCACAGCACTTTGGGAGGCCAGTGTAGGCAGATCACCTCAGGTC AGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTATTAA AAATACAAAAATTAGCTGGGTGAGGTGGCGTGTGCCTGTAATCCCAGCTA CTCAGGAGGCTGAGGCAGGAAACTCTCTTGAAACCCGGGAGGCAGAGGTT GCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGA GACTCCATCTCAAAAAAAAAAAAAAATTTGCTTAGGACAAATTTCTTTTT TTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACC CAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCC CAGGTTCAAGGAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACA GGCGCCTGCCACCACGCCTGGCTAATTTTTTATTTTTAGTGGAGACAGGG TTTCACCATCTTGGCCAGGCTGGTCTCGAACTTCTGACCTTGTGATCCAC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CTDP1_chr18_79674803_79759503	79691483	A A	AGCTCCCA others(658): Show AGCTCCCAGGGTGGACTCGGTGTGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGG GGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACG GCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTG GACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGG GGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCAGG GTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGG ACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGG GTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGG ACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGG GTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGAGGAGTGGACG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	378	0.0027	665	c.315 others(682): Show c.315-3723_315-3722insTGTGGGGAGGAGTGGACGGCTCCCAGGG TGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGT GGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGA CGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGG TGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGT GGGGGAGGAGTGGACAGCTCCCTGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGT GGACGGCTCCCAGGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCA GGGTGGACTCGGGGTGGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG GGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(658): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGTGGAGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAA GGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGG AGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGGAGA CAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0073 a0001c0001t0011g0073	1	216	0.0046	665	c.923 others(684): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCTCCACTCCCCTCCCCCTCCCCTCCCCC TTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCC TCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTC CCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCC TCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619252	C C	CTGCTCCC others(658): Show CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC TCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	250	0.0040	665	c.-10 others(684): Show c.-107+5533_-107+5534insTGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC TCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619485	C C	CTGCCCCC others(658): Show CTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCC CTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCTCCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	250	0.0040	665	c.-10 others(684): Show c.-107+5795_-107+5796insATGCCCCCCCGCTCCCCTCCCTGCAG CTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXD3_chr9_137301896_137428162	137355435	T T	TGGAGGAA others(658): Show TGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGA AGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAA GGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGATGGAGGAAGGAGGACGGAGAAGGAGGATGGAGGAAGGAGGAAGGA GGATGGAGGAAGGGAGGATGGAGGAAGGAGGATGGAGGAAGGAGGAAGGA GGAAGGGAGGAAGGAGGATGGAGGAAGGGAGGAAGGAGGATGGAGGAAGG AGGAAGGAGGACGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGATGG AGGAAGGAGAAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGA GAAAGGAGGAAGGAGGACGGAGGAAGGAGGAAGGGAGGAAGGAGGATGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGG AAGGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0024 a0024	a0024c0017 a0024c0017	a0024c0017t0001 a0024c0017t0001	a0024c0017t0001g0007 a0024c0017t0001g0007	1	82	0.0122	665	c.758 others(680): Show c.758-663_758-662insTTCCTCCTTCCTCCTTCCTCCTTTCTCCTT CCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCC TCCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTT CTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCC TCCTTCCTCCTTTCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCCTTCC TCCATCCTCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCATCCT CCTTCCTCCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCC TCCATCCTCCTTCCTCCATCCTCCCTTCCTCCATCCTCCTTCCTCCTTCC TCCATCCTCCTTCTCCGTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTCCTCC ATCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCC TTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
F10_chr13_113117799_113154529	113151632	C C	CCCTGAGG others(658): Show CCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGA GAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTC CGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGA GCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCT GAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGC AGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAG TGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAG GTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGG GAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCAC GGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAG AGAACAGAGGTGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	412	0.0024	665	c.21 others(676): Show c.2115_*2116insCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGG GGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGA TGGGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGA CCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGA GAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTC CGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGA GCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCT GAGAGTGAGGGAGAGAGAACAGAGGTGAGAA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2104		chr13	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(658): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18972.hp1 NA18986.hp2 others(2): Show HG02040.hp1 NA18972.hp1 NA18986.hp2 NA18991.hp1 NA19056.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 others(2): Show a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0007c0008t0001g0297	5	334	0.0150	665	c.-10 others(684): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXQ1_chr6_1307098_1319758	1317227	C C	CTCCCCCC others(658): Show CTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCC CACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCAC CCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCT CCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCC CCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCC CAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCC GCCCACCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCTCCCCCCGCCCAC TTCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCC GCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCGCCTCCC CCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCC TACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCC CCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCTACCCCTCCCC CCGCCCACTTCTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG02723.hp1 HG02486.hp2 HG02717.hp2 HG02723.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	3	406	0.0074	665	c.33 others(676): Show c.3311_*3312insTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCA GCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACC CCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCC ACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCC CGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCTCCCCCCCAGCCTACC CCTCCCCCCGCCCACTTCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCG CCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCT CTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCC CGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTC CCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCC AGCCTACCCCTCCCCCCGCCCACTTCTCCCG	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2470		chr6	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(658): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATGT AGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGA TTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCACC ACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTT GGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGCCTC CTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCTC AATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTGG CTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCACC TCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTATAA TCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	408	0.0025	665	c.80 others(676): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTC ACCAGGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCT CCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTA CAGGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATC CGCCCGCCTCGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAG TAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATACA GGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGA GGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAA GGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGT GGCGCATGCCTATAATCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(658): Show AGTCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCT CAGCAGTCCCCATGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCACG GTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGTCCC CACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGGGTCTCAGCCG TCCCCACGGTCCCAGCCGTCCCCACCGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCATGGTCTCAGCAGTCCCCACGGTCTCAGGAGTCCCCACGGT CTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACCGTCTCAGGAGTCCCCA CCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCATGGTCTCAACCGTC TCCACGGTCTCAGGAGTCCCCACGGTCTCAGTCATCCCCACGGTCCCAGC CGTCCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCACGGTCTC AGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATCCCCACGG TCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGAAGTCCCC ACGGTCTCAGCCGTCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGCCGT CCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	433	0.0023	665	c.-20 others(676): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCTGAGACCGTGGGG GCTCCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTTCTGAGACCGT GGGGACGGCTGAGACCATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGACGGCTGGGACCGTGGGGATG ACTGAGACCGTGGGGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGG GACTCCTGAGACCGTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGG TGGGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAG ACCGTGGGGACTGCTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGC TGAGACGGTGGGGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGA TGGCTGAGACCCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTG GGGACGGCTGAGACCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGAC CGTGGGGACTCCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCTG AGACCATGGGGATAGCTGAGACTGTGGGGAC	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1974		chr16	TogoVar
INPP5A_chr10_132532787_132788480	132719526	G G	GTCTTGCG others(658): Show GTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCCGGGCACCTTAGACAGC TGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTGGGCACCTTAGACGG CTGTCTTGCAGGTTCTGTGGTACCTGGGTTCTGTCTGGGCGCCTTAGACG GCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTTTCTGGGTGCCTTAGAC GGCTGTCTTGTGGGTTCTGTGGTGCCTGGGTTCTGTCTGGGCACCTTAGA CGACTGTCTTCAGGGTTCTGTGGTACCTCGGTTCTGTCTGGGCGCCTTAG ACGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTGGGCACCTTA GACGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTTTCTGGGGGCACC TTAGATAGCTGTCTTCAGGGTTCTGTGGTGCCTGGGTTCTGTCTGGGCGC CTTAGACGGCTGTCTTGTGGGTTCTGTGGTACCTGGGTTCTGTCTGGGCG CCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCCGGGC ACCTTAGACAGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTGGG CACCTTAGACGGCTGTCTTGTGGGTTCTGTGGCACCTGGGTTCTGTCTGG GCACCTTAGACGGCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02280.hp2 others(5): Show HG01069.hp1 HG01071.hp2 HG02280.hp2 HG02886.hp1 HG03195.hp2 HG03209.hp2 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0012 others(1): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0012 a0001c0004t0021	a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0013 others(5): Show a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0013 a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0032 a0001c0004t0012g0166 a0001c0004t0021g0146	8	204	0.0392	665	c.648 others(682): Show c.648-7277_648-7276insACCTGGGTTCTGTCCGGGCACCTTAGAC AGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTGGGCACCTTAGA CGGCTGTCTTGCAGGTTCTGTGGTACCTGGGTTCTGTCTGGGCGCCTTAG ACGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTTTCTGGGTGCCTTA GACGGCTGTCTTGTGGGTTCTGTGGTGCCTGGGTTCTGTCTGGGCACCTT AGACGACTGTCTTCAGGGTTCTGTGGTACCTCGGTTCTGTCTGGGCGCCT TAGACGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCTGGGCACC TTAGACGGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTTTCTGGGGGC ACCTTAGATAGCTGTCTTCAGGGTTCTGTGGTGCCTGGGTTCTGTCTGGG CGCCTTAGACGGCTGTCTTGTGGGTTCTGTGGTACCTGGGTTCTGTCTGG GCGCCTTAGACGGCTGTCTTGCGGGTTCTGTGGTACCTGGGTTCTGTCCG GGCACCTTAGACAGCTGTCTTCAGGGTTCTGTGGTACCTGGGTTCTGTCT GGGCACCTTAGACGGCTGTCTTGTGGGTTCTGTGGCACCTGGGTTCTGTC TGGGCACCTTAGACGGCTCTCTTGCGGGTTCTGTGGT	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775011	G G	GGAGGGGC others(658): Show GGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGGAGAGAGGG GCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGA GGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGG GGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGAGG AGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGA GGGACGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGGCAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0137 a0001c0001t0007g0137	1	204	0.0049	665	c.978 others(682): Show c.978-2641_978-2640insGGGCAGGGAGGAGGGACGGAGGAGAGAG GGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGAGAG GAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAG GGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACGGA GGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGGCAGGGAG GAGGGACGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAG GCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)