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
CENPI_chrX_101093204_101171126	101137985	T T	TCTTTCTT others(665): Show TCTTTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTG GAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTG AAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGT GCCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACAGGGTTT CACCATGTTAGCCAGGATGGTCTCAGTCTCCTGACATCATTATCAGACCG CCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGG CTCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTAT GCCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGG TCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAG CTACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGG TTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGT GAGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCG TCATGAACATAAAAACCTCGTAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	282	0.0036	672	c.147 others(691): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTAGACGGAGTC TTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCA ACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATT TTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCAGTCTCC TGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGG CCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAG GCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAG CGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCT TGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACT CCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAA AACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137985	T T	TCTTTCTT others(665): Show TCTTTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTG GAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTG AAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGT GCCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTT CACCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCG CCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGG CTCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTAT GCCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGG TCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAG CTACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGG TTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGT GAGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCA TCATGAACATAAAAACCTCGTAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0270 a0001c0002t0005g0270	1	282	0.0036	672	c.147 others(691): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTAGACGGAGTC TTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCA ACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCC TGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGG CCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAG GCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAG CGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCT TGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACT CCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAA AACCTGTGTCCCCTTATCATCATGAACATAAAAACCTCGTACCTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137985	T T	TCTTTCTT others(665): Show TCTTTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTG GAGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTG AAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGT GCCACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTT CACCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCG CCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGG CTCAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTAT GCCTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGG TCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAG CTACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGG TTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGT GAGATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCG TCATGAACATAAAAACCTCGTAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(96): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18953.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA20905.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0004c0006 a0005c0007 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0002t0005 a0001c0008t0033 a0004c0006t0001 a0005c0007t0001 a0006c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 others(96): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0223 a0001c0001t0003g0157 a0001c0001t0012g0052 a0001c0001t0012g0091 a0001c0001t0013g0033 a0001c0001t0015g0115 a0001c0001t0016g0087 a0001c0001t0018g0002 a0001c0001t0021g0069 a0001c0002t0005g0006 a0001c0002t0005g0010 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0013 a0001c0002t0005g0014 a0001c0002t0005g0015 a0001c0002t0005g0017 a0001c0002t0005g0018 a0001c0008t0033g0021 a0004c0006t0001g0065 a0005c0007t0001g0067 a0006c0005t0001g0113	99	282	0.3511	672	c.147 others(691): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTAGACGGAGTC TTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCA ACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATT TTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCC TGACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGG CCATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAG GCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATG GTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAG CGCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCT TGAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACT CCAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAA AACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137986	C C	CTTTCTTT others(665): Show CTTTCTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGAA GCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTGC CACCACGCCTGGCTAATTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGCC TTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCT CAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATGC CTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTC AGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCT ACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTT GCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGA GATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTC ATGAACATAAAAACCTCGTACCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	282	0.0036	672	c.147 others(691): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTAGACGGAGTCT TGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAA CCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAG CTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTTGGTATTT TTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCT GACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGC GTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGGC CATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAGG CGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGG TGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAGC GCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCTT GAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTC CAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAAA ACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CENPI_chrX_101093204_101171126	101137986	C C	CTTTCTTT others(665): Show CTTTCTTTTTTTTTTTTTTTAGACGGAGTCTTGCTGTGTTGCCAGGCTGG AGTGCAGTGGCGCGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTGA AGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGCGTG CCACCACGCCTGGCTAATTTTTTGGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTAGCCAGGATGGTCTCAATCTCCTGACATCATTATCAGACCGCC TTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCT CAACTTTGTTTTTAAAAAGAGAAAACCGGCCATAGGGCGGTGGCTTATGC CTATAATCCCAGTAATTTGGGAGACCGAGGCGGGTGGATCATTTGAGGTC AGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATTAGCCGGGTGGTAGTAGCGCACACCTGTAATCCCAGCT ACTAAAGAGGATGAAGCCAGAGAATCGCTTGAGCCTAGGAGGCAGAGGTT GCAGTGAGCTGAGATCATGCCACTGCACTCCAGTTTGGGCGATGGAGTGA GATCCTGTCTCAAAAAAATAAAAAGACAAAACCTGTGTCCCCTTATCGTC ATGAACATAAAAACCTCGTACCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01069.hp1 others(11): Show HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG02293.hp2 HG02451.hp2 HG02698.hp1 HG03669.hp2 HG04115.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0004 a0001c0001t0022	a0001c0001t0004g0003 a0001c0001t0004g0121 a0001c0001t0004g0124 others(10): Show a0001c0001t0004g0003 a0001c0001t0004g0121 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0136 a0001c0001t0022g0128	14	282	0.0497	672	c.147 others(691): Show c.1471-2677_1471-2676insCTTTTTTTTTTTTTTTAGACGGAGTC TTGCTGTGTTGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCA ACCTCCGCCTCCCGGGTTGAAGCAATTCTCCTGTCTCAGCCTCCCAAGTA GCTGGGAGTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTGGTATTT TTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCT GACATCATTATCAGACCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGC GTGAGCCACTGCGCCTGGCTCAACTTTGTTTTTAAAAAGAGAAAACCGGC CATAGGGCGGTGGCTTATGCCTATAATCCCAGTAATTTGGGAGACCGAGG CGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGG TGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGGTAGTAGC GCACACCTGTAATCCCAGCTACTAAAGAGGATGAAGCCAGAGAATCGCTT GAGCCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTC CAGTTTGGGCGATGGAGTGAGATCCTGTCTCAAAAAAATAAAAAGACAAA ACCTGTGTCCCCTTATCGTCATGAACATAAAAACCTCGTACCTTTT	CENPI	ENSG00000102384.14	transcript	ENST00000682095.1	protein_coding	15/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(665): Show ACTAATATTTAAGAGATATTAGTTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATACTAGCTGCTA ATATTTAAGAAATACTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTAATAT TTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTAATATTT AAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTAATATTTAA GAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTAATATTTAAGA AATACTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCAGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0024 a0024	a0024c0025 a0024c0025	a0024c0025t0005 a0024c0025t0005	a0024c0025t0005g0182 a0024c0025t0005g0182	1	216	0.0046	672	c.141 others(689): Show c.1411-363_1411-362insGATATTAGTTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATACT AGCTGCTAATATTTAAGAAATACTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCT GCTAATATTTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGC TAATATTTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTA ATATTTAAGAAATACTAGCTGCTAATATTTAAGAAATACTAGCTGCTAAT ATTTAAGAAATACTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCAGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966203	A A	GATATTAG others(665): Show GATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18966.hp1 NA18968.hp1 HG03669.hp1 NA18966.hp1 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0029 a0002c0002 a0001c0029 a0002c0002	a0001c0029t0001 a0002c0002t0001 a0001c0029t0001 a0002c0002t0001	a0001c0029t0001g0083 a0002c0002t0001g0163 a0002c0002t0001g0166 a0001c0029t0001g0083 a0002c0002t0001g0163 a0002c0002t0001g0166	3	216	0.0139	672	c.141 others(689): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63			chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966203	A A	GATATTAG others(665): Show GATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAACTATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	216	0.0046	672	c.141 others(689): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAACTATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63			chrX	TogoVar
CFAP61_chr20_20047532_20365698	20320485	A A	ATTATATA others(665): Show ATTATATATATTATATATGTAATATATATTATATATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATATTATATATG TAATATATATTATATATATTATATATATTATATATGCAATATATATTATA TATTACATATGCAATATATATATTATATATTACATATGTAATATATATTA CATATGTAATATATATTATATATGTAATATATATTACATATATTATATAT GTAATATATAATATATATTATATATGTAATATATAATATATATTATATAT GTAATATATAATATATATTATATATGTAATATATATTATATATATAATAT ATATTATATATGTAATATATAATATATATTATATATGTAATATATATTAT ATATGTAATATATATTATATATGTAATATATAACATATATTATATATGTA ATATATATTATATATGTAATATATAATATATATTATATATGTAATATATA TTATATATATAATATATATTATATATGTAATATATATTATATATATTATA TATGTAATATATATTATATATGTAATATATGTAATATATATTATATATGT AATATATGTAATATATATTATATATGTAATATATGTAATATATATTATAT ATGTAATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0133 a0007c0010t0003g0133	1	236	0.0042	672	c.342 others(693): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATATTATATA TATTATATATGCAATATATATTATATATTACATATGCAATATATATATTA TATATTACATATGTAATATATATTACATATGTAATATATATTATATATGT AATATATATTACATATATTATATATGTAATATATAATATATATTATATAT GTAATATATAATATATATTATATATGTAATATATAATATATATTATATAT GTAATATATATTATATATATAATATATATTATATATGTAATATATAATAT ATATTATATATGTAATATATATTATATATGTAATATATATTATATATGTA ATATATAACATATATTATATATGTAATATATATTATATATGTAATATATA ATATATATTATATATGTAATATATATTATATATATAATATATATTATATA TGTAATATATATTATATATATTATATATGTAATATATATTATATATGTAA TATATGTAATATATATTATATATGTAATATATGTAATATATATTATATAT GTAATATATGTAATATATATTATATATGTAATATATGTAATATATATT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CHMP1A_chr16_89639435_89662708	89647539	A A	AGTGGAGA others(665): Show AGTGGAGAAAAGGCCGCCGACGCGGAGACCCAGCGCGGGGTCAGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTG GAGCAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGCAAAG GCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGCAAAGGCCGCCGA CGTGGAGACCCAGCGCGGGGTCG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	392	0.0026	672	c.253 others(687): Show c.253-209_253-208insCGACCCCGCGCTGGGTCTCCACGTCGGCGG CCTTTGCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTGCT CCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTGCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCAC TGACCCCGCGCTGGGTCTCCGCGTCGGCGGCCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647539	A A	AGTGGAGA others(665): Show AGTGGAGAAAAGGCCGCCGACGCGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGAGACCCAGCGCGGGGTCG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	392	0.0026	672	c.253 others(687): Show c.253-209_253-208insCGACCCCGCGCTGGGTCTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTT CTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCG GCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCAC CGACCCCGCGCTGGGTCTCCGCGTCGGCGGCCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647648	G G	GGACCCAG others(665): Show GGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGT GGAGAAAAGGCGGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03471.hp2 HG02896.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0346 a0001c0001t0001g0201 a0001c0001t0001g0346	2	392	0.0051	672	c.253 others(687): Show c.253-318_253-317insTCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC GCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTC TCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648278	A A	AGACCCAG others(665): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCG GCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGT GGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGTGGGGTCGGTGG AGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGAC GTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGT GGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	392	0.0026	672	c.253 others(687): Show c.253-948_253-947insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCACGTCGGCC GCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGA CCCCACGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGG CCGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTT TCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC ACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTC TCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	428	0.0023	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	428	0.0023	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02071.hp2 NA18948.hp2 others(2): Show HG00642.hp2 HG02071.hp2 NA18948.hp2 NA19066.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0148 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0187	5	428	0.0117	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	428	0.0023	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA19010.hp2 NA18997.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0217 a0001c0001t0001g0081 a0001c0001t0001g0217	2	428	0.0047	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	428	0.0023	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	428	0.0023	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	428	0.0023	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	428	0.0023	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG01070.hp2 others(21): Show HG00099.hp2 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01175.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02809.hp1 HG03017.hp1 HG04228.hp2 HG06807.hp2 NA18950.hp1 NA18999.hp1 NA19007.hp1 NA19054.hp2 NA19067.hp1 NA20805.hp2	a0001 a0003 a0039 a0001 a0003 a0039	a0001c0001 a0001c0024 a0003c0003 others(2): Show a0001c0001 a0001c0024 a0003c0003 a0003c0028 a0039c0060	a0001c0001t0001 a0001c0001t0008 a0001c0024t0001 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0024t0001 a0003c0003t0001 a0003c0028t0001 a0039c0060t0001	a0001c0001t0001g0003 a0001c0001t0001g0100 a0001c0001t0001g0137 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0100 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0008g0097 a0001c0024t0001g0003 a0003c0003t0001g0016 a0003c0028t0001g0064 a0039c0060t0001g0003	24	428	0.0561	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	428	0.0023	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02074.hp2 HG00741.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0165 a0001c0001t0001g0140 a0001c0001t0001g0165	2	428	0.0047	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCC CCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCC GCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(665): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19085.hp1 NA18975.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0219 a0001c0001t0001g0222	2	428	0.0047	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795610	C C	CCCCCGGC others(665): Show CCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCGCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCCGTGCCC GCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCC CCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAA CCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCC CCCCGCGCTGCCCGTGTGGCTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0174 a0001c0009t0001g0174	1	428	0.0023	672	c.217 others(687): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCG CCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGTCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(665): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGA TAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATA GACTGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGG CCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACC GTGGTTACAGTGTGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTT ACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTAC AGCGTGTGGATAGGCCGTGGTCACAGCGTGTGGATAGGCCGTGGTCACAG CGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCG TGGATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0227 a0001c0015t0001g0227	1	372	0.0027	672	c.180 others(691): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTG GTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGT TACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACTGTGGTTA CAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACA GTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGTTGCAGT GTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGCGTGT GGATAGGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGG ATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTGGAT AGGCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGG GCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGC CGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385410	T T	TGTGGATA others(665): Show TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATA GGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGA CTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACT GTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGT GGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGG TTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCTGTGGTT ACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTCAC AGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGGCCGTGGTCACAG CGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCG TGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCG TGGATAGGCCGTGGTTACAGTGC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0201 a0001c0025t0001g0201	1	372	0.0027	672	c.180 others(691): Show c.180+27866_180+27867insGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGACCG TGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGT TACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTA CAGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACA GTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGT GTGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGT GTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGT GGATAGGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGG ATAGGCCGTGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGAT GGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGG GCCGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGC CGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385530	C C	CGTGGATA others(665): Show CGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCG TGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTACAGTGCGTG GATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGA TAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTGTGTGGATA GGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCC GTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGCTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0362 a0001c0005t0001g0362	1	372	0.0027	672	c.180 others(691): Show c.180+27986_180+27987insACCGTGGTTACAGTGCGTGGATAGGC CGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTG TGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTG GTTACAGTGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGT TACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTG CAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACA GCGTGTGGATAGGCCGTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGC GTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGT GTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGT GGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGG ATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGAT AGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAG ACCGTGGCTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGC CGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(665): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCC GGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCG GGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG GGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGG GGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0067 a0001c0007t0002g0067	1	412	0.0024	672	c.630 others(687): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCG GCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGC GGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG GGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGG GGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGG GAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(665): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGC TGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGG CGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCG GGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG GGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0128 a0001c0007t0002g0128	1	412	0.0024	672	c.630 others(687): Show c.630+179_630+180insGGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCT GGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGC GGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGG GGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGG GGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGG GAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(665): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGT ATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTAT GTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGT ATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTAT ATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATAC TACATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	448	0.0022	672	c.51+ others(687): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA CTATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGT ATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTAT ATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGT AGTATACATACTATATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CTDP1_chr18_79674803_79759503	79752598	G G	GTAAGGAA others(665): Show GTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAA AGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGT GGCACCCGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGG CTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTAT GCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGC TCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGG AAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTA GTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACC GGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTT ATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCCGCTGGTTATGCAGAG GCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAA GGAAAGCCTAGTGGCACCCGCTGGTTATGCAGAGGCTCCTAAGGAAAGCC TAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCA CCGGCTGGTTATGCAGAGGCTCC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0047 a0001c0003t0001g0047	1	378	0.0027	672	c.274 others(691): Show c.2748-1013_2748-1012insCTAAGGAAAGCCTAGTGGCACCGGCT GGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCCGCTGGTTATGC AGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTC GTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAA AGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGT GGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGG CTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTAT GCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGC TCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGG AAAGCCTAGTGGCACCCGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTA GTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACC CGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTT ATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAG GCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CXorf51B_chrX_146804771_146815411	146812146	C C	CATGTGTA others(665): Show CATGTGTATATATGTATATACACATATATACACATGTGTATATATGTATA TACACATATATATGTGTACACATATATATATGTATACATATATATATGTA TATATATGTATATATATATATATGTACACATATATATATGTGTACACACA TATATGTGTGTATATACATATATACACATATATGTACACATATATGTGTG TATATACATATATACACACATATATGTACACATATATGTGTGTATATACA TACATACACATATATGTACACATATATGTGTGTATATACATATATACACA TATATGTACACATATATGTGTGTATATACATATATACACATATATGTACA CATATACGTGTGTATATACATATATACACATATATGTACACATATATGTG TGTATATACATATATACACATATATGTACACATATATGTGTGTATATACG TATATACACATATGTACACATATATGTGTGTATATACGTATATACACATG TGTATATACGTATATACACATATATGTGTACATATATGTGTGTATATATG TGTGTATATGCATATATGTGTACATACATATATACACATGTGTATATATG TATATACACATATATATATGTATACATATATATATGTGTACACATATATA TGTGTATATACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	272	0.0037	672	c.18 others(683): Show c.1838_*1839insATGTGTATATATGTATATACACATATATACACAT GTGTATATATGTATATACACATATATATGTGTACACATATATATATGTAT ACATATATATATGTATATATATGTATATATATATATATGTACACATATAT ATATGTGTACACACATATATGTGTGTATATACATATATACACATATATGT ACACATATATGTGTGTATATACATATATACACACATATATGTACACATAT ATGTGTGTATATACATACATACACATATATGTACACATATATGTGTGTAT ATACATATATACACATATATGTACACATATATGTGTGTATATACATATAT ACACATATATGTACACATATACGTGTGTATATACATATATACACATATAT GTACACATATATGTGTGTATATACATATATACACATATATGTACACATAT ATGTGTGTATATACGTATATACACATATGTACACATATATGTGTGTATAT ACGTATATACACATGTGTATATACGTATATACACATATATGTGTACATAT ATGTGTGTATATATGTGTGTATATGCATATATGTGTACATACATATATAC ACATGTGTATATATGTATATACACATATATATATGTATACATATATATAT GTGTACACATATATATGTGTATATACATATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1736		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(665): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGG AAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGG GAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAG GGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0129 a0001c0001t0036g0129	1	216	0.0046	672	c.923 others(691): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCT TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCC CTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCC CCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCC CTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(665): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGA AGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGG GAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAG GGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	216	0.0046	672	c.923 others(691): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCC CCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCC CTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(665): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGG TGAGGGTCAGAGGAAGGGGCAGGTGGGGTGAGGGGCACAGGAAGGGCCAG GCGGGATAATGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACAGGCGGGG TGAGGGGCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0178 a0001c0003t0001g0178	1	345	0.0029	672	c.17 others(683): Show c.1711_*1712insCCCCTCACCCCGCCTGCCCCTCACCCCGCCTGTC CCTCACCCCGCCTGGCCCTTCCTCTGACCATTATCCCGCCTGGCCCTTCC TGTGCCCCTCACCCCACCTGCCCCTTCCTCTGACCCTCACCCCGCCTGGC CCTTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCAC CCCGCCTGGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAC CCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGCCTGGCCCTTCC TGTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGCCTGGC TCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCG CCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DRD4_chr11_632269_645706	642838	C C	CCAGGCGG others(665): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGG TGAGGGTCAGAGGAAGGGGCAGGTGGGGTGAGGGGCACAGGAAGGGCCAG GCGGGATAATGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACAGGCGGGG TGAGGGGCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	421	0.0024	672	c.22 others(683): Show c.2235_*2236insCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGG AAGAGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGT CACAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGG CGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGG CAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGG AAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGGCAGGTGGGGTGAGGGG CACAGGAAGGGCCAGGCGGGATAATGGTCAGAGGAAGGGCCAGGCGGGGT GAGGGACAGGCGGGGTGAGGGGCAGGCGGGGTGAGGGG	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding		2133		chr11	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(665): Show GGGGGAAGAGAGTGGGAAGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGG GGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAGG AAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGA GGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGGG GAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGG GGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGT GAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGA GAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTG TGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGG GAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAG GGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAG GAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAG GAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0005	1	294	0.0034	672	c.-38 others(683): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGAGGAGGGAGGGGA GGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGG GAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGA GGGAGGGGAGATGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGA AGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGG TGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGG GAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGA GGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAG GAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGG GAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGG TGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAG GAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGT AAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282324	G G	GGGGGAAG others(665): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGG AGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGG GGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAG GGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTG TGAAGGGAGGAGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGA GAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTG TGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGG GAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAG GGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAG GAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAG GAAGGAAGGGAGGGGGTATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0089 a0001c0001t0010g0089	1	294	0.0034	672	c.-38 others(683): Show c.-3845_-3844insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGA GGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTG AAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGAGGGGAGGAGGGTGTGAAGGGA GGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAG GAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGG GAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGG TGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAG GAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGT AAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3548		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1282407	G G	GGGAGGAA others(665): Show GGGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAG GAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTG TGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGA GGGTGTGAAGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGA GGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGG AGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGT GTAAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAATGGGGAAGAG AGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGGAAGGAAG GAGGGAGGGGAGAAGGGTGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	294	0.0034	672	c.-37 others(683): Show c.-3762_-3761insGGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGA AGGTGTGAAGGGAAGGAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGA GGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGA GGGAGGGAGGGAGGAGGGTGTGAAGGAGGAGGGGGGAGGGTGTGAAGGGA AGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAA GGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGA GGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGG GAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGG GAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGG AAAGGGGAGGAAGGTGTAAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGT ATTAATGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTAT GAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAA	EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding		3465		chr19	TogoVar
EML1_chr14_99788413_99947060	99928107	G G	GTGATGGT others(665): Show GTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGATGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	288	0.0035	672	c.190 others(691): Show c.1909+7232_1909+7233insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGATGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928140	G G	GTGGTGAT others(665): Show GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0059 a0001c0004t0003g0059	1	288	0.0035	672	c.190 others(691): Show c.1909+7268_1909+7269insATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTG GTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGAGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD3_chr9_137301896_137428162	137355671	G G	GGAGAAAG others(665): Show GGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGATGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAG GGAGGATGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGGAGGATGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGATGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGATGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGA TGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGAAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGAAGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	82	0.0122	672	c.757 others(687): Show c.757+596_757+597insTTCCTCCTTCCTCTTCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCTTTCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCC TTCCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCC TTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCATCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC2_chr6_480154_698139	601892	A A	ACACACAT others(665): Show ACACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACATTCTCACACCAAGAA CACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGT GCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCAC ACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTC ACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAA CACCCCGTGTGCGAATCCACATTCTCACACCAAGAACACCCCGTGTGCGA ATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACAC ATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACAC CAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACC CCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGA ATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACAC ATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	272	0.0037	672	c.743 others(689): Show c.743-2668_743-2667insTGGATTCGCACACGGGGTGTTCTTGGTG TGAGAATGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTG TGGATTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCA CACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGT TCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTG TGGATTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCA CACGGGGTGTTCTTGGTGTGAGAATGTGGATTCGCACACGGGGTGTTCTT GGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAA TGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGA TTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACG GGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTT GGTGTGAGAATGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATG TGTGTGGATTCGCAGACGGGGTGTTCTTGGTGTGAGAATGTGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FAM174C_chr19_1270530_1284228	1282324	G G	GGGGGAAG others(665): Show GGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGG GGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAG GAAGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGG AGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGG GGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAG GGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTG TGAAGGGAGGAGGAGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGA GAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTG TGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGG GAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAG GGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAG GAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAG GAAGGAAGGGAGGGGGTATTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	672	c.35 others(683): Show c.3547_*3548insGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGG AGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAAG GGAGGAAGGAGAGAGGAAGGAGGAGGGAGGGGAAGGTGTGAAGGGAAGGA GGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTGTG AAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGG GTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGAGGGGAGGAGGGTGTGAAGGGA GGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAG GAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGAGG GAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGG TGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGGAG GAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGGAG GGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGTGT AAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAAT	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3097		chr19	TogoVar
FAM174C_chr19_1270530_1284228	1282407	G G	GGGAGGAA others(665): Show GGGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGGGAAG GAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAAGGTG TGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGA GGGTGTGAAGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG GAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGAGGA GGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAG GGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTGAAGGG AGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAGGGAGG AGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGGAAAGGGGAGGAAGGT GTAAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAATGGGGAAGAG AGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGGAAGGAAG GAGGGAGGGGAGAAGGGTGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	254	0.0039	672	c.36 others(683): Show c.3630_*3631insGGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGA AGGTGTGAAGGGAAGGAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGA GGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGA GGGAGGGAGGGAGGAGGGTGTGAAGGAGGAGGGGGGAGGGTGTGAAGGGA AGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGG AGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAA GGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGA GGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGG GAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGA GGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGG GAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAGGAGGGAGGGGAGGATTGG AAAGGGGAGGAAGGTGTAAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGT ATTAATGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTAT GAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAA	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3180		chr19	TogoVar
FOXQ1_chr6_1307098_1319758	1317225	C C	CCCTCCCC others(665): Show CCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCC CCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCC CACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCCTCCCCCCGCCCACCCC CCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCC GCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCC CCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCACCCCCCCAGCCTAC CCCTCCCCCCGCCCACCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCTCC CCCCGCCCAGCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACC CATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCACCCATCCC TCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCCCG CCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCC CCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAG CCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCC CCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02895.hp2 others(4): Show HG02451.hp2 HG02572.hp2 HG02895.hp2 HG02922.hp1 HG03041.hp2 HG03139.hp2 NA20129.hp1	a0002 a0002	a0002c0005 a0002c0027 a0002c0005 a0002c0027	a0002c0005t0006 a0002c0027t0020 a0002c0005t0006 a0002c0027t0020	a0002c0005t0006g0000 a0002c0027t0020g0000 a0002c0005t0006g0000 a0002c0027t0020g0000	7	406	0.0172	672	c.33 others(683): Show c.3309_*3310insCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTC CAGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACCCCTCCTCCCGCCCCCCTCCAGCCTACCCCCT CCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGC CCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCAC CCCCTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCC ACCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCTCCCCC CCAGCCTACCCCTCCCCCCGCCCAGCCCTCCTCCCGCCCCCCTCCAGCCT ACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCT CCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCG CCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCC CTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCC TCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCC CAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2468		chr6	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(665): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACA CATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATC CCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACC CCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCC CTCCCTCCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(27): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01258.hp1 HG01346.hp2 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02293.hp1 HG03492.hp2 HG03927.hp1 HG03927.hp2 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18995.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0040 others(27): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0006t0001g0088	30	143	0.2098	672	c.35 others(683): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGG GGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGG GAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCGTGGGGGGA GGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGG GGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGG GGATGTGTCCCGAGGAGGGAGGGGGGATGTGTTCCCTGGAGGGAGGGGGG ATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGAT GTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGT GTCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGT CCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3231		chr13	TogoVar

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Search Results (Total: 10000 hits)