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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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
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(700): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCACCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTC CCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCC TTTCCCTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0071 a0002c0002t0025g0071	1	150	0.0067	707	c.77- others(724): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCACCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCC TCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT TCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCAT CCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCC TCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(700): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCACCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTC CCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCC TTTCCCTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0053 a0002c0002t0027g0053	1	158	0.0063	707	c.22+ others(724): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCACCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCC TCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT TCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCAT CCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCC TCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGK3_chr8_66707781_66867022	66772140	G G	GGCTGGAG others(700): Show GGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTGCCA GGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGG CGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGG TTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCCTGGGA ACTCTAGTAAATAGTTTTAAATTGCCAGGGTGTGGTGGCTCATGCCTGTA ATCCGAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATCAGGAG TTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAAAAATA CAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTGCAGTG AGCCAAGATTGCACCACTGCACTCAAGCCTGAGTGACAGAGCAAGACTCT GTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTAGTT TTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCTCTG TCACCCAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp2 HG02486.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0003 a0001c0002t0002g0004	2	142	0.0141	707	c.-12 others(728): Show c.-121-21461_-121-21460insCATGATCTCGGCTCACTGCAAGCT CCGCCTGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTG GGGCCTGGGAACTCTAGTAAATAGTTTTAAATTGCCAGGGTGTGGTGGCT CATGCCTGTAATCCGAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTG AGATCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCT GCTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGA GGTTGCAGTGAGCCAAGATTGCACCACTGCACTCAAGCCTGAGTGACAGA GCAAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTA AAGTTTAGTTTTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGC TTTCCCTCTGTCACCCATGCTGGAGTGCAGTGG	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66772140	G G	GGCTGGAG others(700): Show GGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTGCCA GGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGG CGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGG TTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCCTGGGA ACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCTCATGCCTGTA ATCCGAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATCAGGAG TTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAAAAATA CAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTGCAGTG AGCCAAGATTGCACCACTGCACTCAAGCCTGAGTGACAGAGCAAGACTCT GTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTAGTT TTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCTCTG TCACCCAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01884.hp1 others(37): Show HG01070.hp2 HG01071.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp2 HG02258.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG04199.hp1 NA18522.hp2 NA18946.hp2 NA18952.hp1 NA18957.hp1 NA18982.hp1 NA18988.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp2 NA19004.hp1 NA19012.hp2 NA19043.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(2): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007	a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0026 others(37): Show a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0003g0013 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0060 a0001c0002t0003g0067 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0005g0061 a0001c0002t0005g0062 a0001c0002t0005g0064 a0001c0002t0005g0065 a0001c0002t0007g0023	40	142	0.2817	707	c.-12 others(728): Show c.-121-21461_-121-21460insCATGATCTCGGCTCACTGCAAGCT CCGCCTGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTG GGGCCTGGGAACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCT CATGCCTGTAATCCGAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTG AGATCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCT GCTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGA GGTTGCAGTGAGCCAAGATTGCACCACTGCACTCAAGCCTGAGTGACAGA GCAAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTA AAGTTTAGTTTTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGC TTTCCCTCTGTCACCCATGCTGGAGTGCAGTGG	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66772144	G G	GGAGTGCA others(700): Show GGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTGCCAGGTT CACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCC CGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGC CTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGTGCCCGGC CTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCCTGGGAACTC TAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCTCATGCCTGTAATCC AAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATCAGGAGTTTG AGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAAAAATACAAA AATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCC AAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCT CAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTAGTTTTAG AGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCTCTGTCAC CCATGCTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	142	0.0070	707	c.-12 others(728): Show c.-121-21461_-121-21460insCATGATCTCGGCTCACTGCAAGCT CCGCCTGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAG CCACCGTGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTG GGGCCTGGGAACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCT CATGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTG AGATCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCT GCTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGA GGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGA GCAAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTA AAGTTTAGTTTTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGC TTTCCCTCTGTCACCCATGCTAGAGTGCAGTGG	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66772144	G G	GGAGTGCA others(700): Show GGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTGCCAGGTT CACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCC CGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCCTGGGAACTC TAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCTCATGCCTGTAATCC AAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATCAGGAGTTTG AGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAAAAATACAAA AATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCC AAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCT CAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTAGTTTTAG AGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCTCTGTCAC CCATGCTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00741.hp1 others(64): Show HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02818.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18946.hp1 NA18952.hp2 NA18957.hp2 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0102 a0001c0001t0009g0107 a0001c0001t0010g0068 a0001c0002t0002g0036 a0001c0003t0001g0078	67	142	0.4718	707	c.-12 others(728): Show c.-121-21461_-121-21460insCATGATCTCGGCTCACTGCAAGCT CCGCCTGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTG GGGCCTGGGAACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCT CATGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTG AGATCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCT GCTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGA GGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGA GCAAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTA AAGTTTAGTTTTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGC TTTCCCTCTGTCACCCATGCTAGAGTGCAGTGG	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66772144	G G	GGAGTGCA others(700): Show GGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTGCCAGGTT CACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCC CGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCCTGGGAACTC TAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCTCATGCCTGTAATCC AAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATCAGGAGTTTG AGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAAAAATACAAA AATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCC AAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCT CAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTAGTTTTAG CGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCTCTGTCAC CCATGCTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	142	0.0070	707	c.-12 others(728): Show c.-121-21461_-121-21460insCATGATCTCGGCTCACTGCAAGCT CCGCCTGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTG GGGCCTGGGAACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCT CATGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTG AGATCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCT GCTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGA GGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGA GCAAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTA AAGTTTAGTTTTAGCGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGC TTTCCCTCTGTCACCCATGCTAGAGTGCAGTGG	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGK3_chr8_66707781_66867022	66772144	G G	GGAGTGCA others(700): Show GGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTGCCAGGTT CACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCC CGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTGGGGCCTGGGAACTC TAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCTCATGCCTGTAATCC AAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTGAGATCAGGAGTTTG AGATCAGCCTGGCCAACATGGTGAAACCTCACCTCTGCTAAAAATACAAA AATTAGCCAGGCGTGGTAGTGCACTCCTGTAATTCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCC AAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCT CAAAAAACAAACAAACAAACAAACAAAAAAAGTTTAAAGTTTAGTTTTAG AGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGCTTTCCCTCTGTCAC CCATGCTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01261.hp1 HG02523.hp1 others(4): Show HG01175.hp2 HG01261.hp1 HG02523.hp1 HG03669.hp1 HG03688.hp2 NA18982.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0071 a0001c0001t0001g0074 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0122	7	142	0.0493	707	c.-12 others(728): Show c.-121-21461_-121-21460insCATGATCTCGGCTCACTGCAAGCT CCGCCTGCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTG GGATTACAGGCGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGT AGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCT CGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCAAGATATTGAAAATTTTTATTCCTGGTTGGTTG GGGCCTGGGAACTCTAGTAAATAGTTTTAAATTGCCTGGGTGTGGTGGCT CATGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGCCAGCAAATCACTTG AGATCAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCTCACCTCT GCTAAAAATACAAAAATTAGCCAGGCGTGGTAGTGCACTCCTGTAATTCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAGCCTGGGAGGTGGA GGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGAGTGACAGA GCAAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAAGTTTA AAGTTTAGTTTTAGAGATAAATATTCTTTTTTGTTTGTTTTGAGACAGGC TTTCCCTCTGTCACCCATGCTAGAGTGCAGTGG	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(700): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGAGAAG AGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGG GGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGA GGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGA GGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGG AGGAGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 NA18522.hp2 others(1): Show HG01891.hp1 HG02572.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0043 a0001c0001t0003g0028 a0001c0001t0003g0234 a0001c0001t0001g0043 a0001c0001t0003g0028 a0001c0001t0003g0234	4	350	0.0114	707	c.624 others(722): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC TTCTCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCC TCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCT TCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTC CTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCT TTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCT CCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCAC CTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTT TTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCT CCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTC CTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(700): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGAAGGGGAAGGGGGAGGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGGAAGGGGGA AGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGGGGAGGAGGGAGG GGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGG TGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	707	c.12 others(718): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTCCCCTCCCCCTCC CTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCTCCCTCCTCC CCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCCTCCCCCTTCCCCTT CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTC CTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTC CCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCT CCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTC ACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCT CCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCC CTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCC TCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
STOML3_chr13_38960925_38995831	38988216	G G	GATATTTT others(700): Show GATATTTTATATAAAATATATTATATTTTATATAAAATATATGATATTTT ATATCATATATTTTATATAAAATATATGATATTTTATATCATATATTTTA TATAAAATATATGATATTTTATATCATATATTTTATATAAAATATATGAT ATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCATATA TTTTATATCATATATTTTATATAAAATATATGATATTTTATATCATATAT TTTATATAAAATATATGATATTTTATATCATATATTTTATATAAAATATA TGATATTTTATATCATATATTTTATATAAAATATATGATATTTTATATCA TATATTTTATATATAATATATGATATTATATATAAAATATATTATATTTT ATATAAAATATATTATATTTTATATAAAATATCATATATTTTATATAAAA TATATTATATTTTATATAAAATATATTGTATTTTATATAAAATATATTAT ATTTTATATCATATATTTTATATAAAATATATTATATTTTATATCATATA TTTTATATAAAATATATTATATTTTATATCATATATTTTATATAAAATAT ATTATATTTTATATCATATATTTTATATAAAATATATTATATTTTATATC ATATATTTTATATATAATATATTATATTTTATATCATATATTTTATATAT AATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	396	0.0025	707	c.52+ others(722): Show c.52+2453_52+2454insAATATATTATATATAAAATATATGATATAA AATATAATATATTATATATAAAATATATGATATAAAATATAATATATTTT ATATAAAATATATGATATAAAATATAATATATTTTATATAAAATATATGA TATAAAATATAATATATTTTATATAAAATATATGATATAAAATATAATAT ATTTTATATAAAATATATGATATAAAATATAATATATTTTATATAAAATA CAATATATTTTATATAAAATATAATATATTTTATATAAAATATATGATAT TTTATATAAAATATAATATATTTTATATAAAATATAATATATTTTATATA TAATATCATATATTATATATAAAATATATGATATAAAATATCATATATTT TATATAAAATATATGATATAAAATATCATATATTTTATATAAAATATATG ATATAAAATATCATATATTTTATATAAAATATATGATATAAAATATCATA TATTTTATATAAAATATATGATATAAAATATATGATATAAAATATCATAT ATTTTATATAAAATATATGATATAAAATATCATATATTTTATATAAAATA TATGATATAAAATATCATATATTTTATATAAAATATATGATATAAAATAT CATATATTTTATATAAAATATATGATATAAAATATCATATATTTTATATA AAATATAATATATTTTATATAAAATAT	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SULT2B1_chr19_48547172_48604423	48583017	C C	CGTGCGTG others(700): Show CGTGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATCA CCTGAGCCTAGAAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCATAACA CTCCAGCCTGGGGAAGAGTAAGACCTTGACTCAGAAAACAAAACAAAACA AAACAAAACAAAACAAAACAGCCGGGCATGGTGGCATGTACCTGGAATCC CAGCTACTCAGGAGGTTGAGGCTCAATCATCACTTGACCCCGGGAGGTGG AGGTTGCAGTGAGCCGAGATTGCACCACTGAACTGCAGCCTGGATGACAG AGCGAGAGTATGTCTCAGAGAGAGAGAAAGAGAGAGAGAGAAAGAGAGAG AGAGAAAGAATTATTTGCACACATTACGTGGCTATTATTTAGAAAATAAC ATGTGGCCAGGTGCAGTGGCTCATACCTATAATCCCAACACTTTGGGAGG CCGAAGTGGGAGGATTGCTTGAGCCCAGGATTTCAAGACCAGCCTGGGCA ACATAGCGAGACCCTGTCTCTGTTAAAAAAAAATTTTTTTGTAAGAAAAA AAACAGAATAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAACACTTC GGGAGGCTGAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCC TGACTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAGTTAGCTGG GCGTGGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG06807.hp2 HG01891.hp2 HG02451.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0066 a0001c0001t0001g0367 a0001c0001t0001g0031 a0001c0001t0001g0066 a0001c0001t0001g0367	3	376	0.0080	707	c.215 others(724): Show c.215-4208_215-4207insGTGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGTGGGAGAATCACCTGAGCCTAGAAGGTTGAGGCTGCAGTGAGCC ATGATTGTGCCATAACACTCCAGCCTGGGGAAGAGTAAGACCTTGACTCA GAAAACAAAACAAAACAAAACAAAACAAAACAAAACAGCCGGGCATGGTG GCATGTACCTGGAATCCCAGCTACTCAGGAGGTTGAGGCTCAATCATCAC TTGACCCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGAAC TGCAGCCTGGATGACAGAGCGAGAGTATGTCTCAGAGAGAGAGAAAGAGA GAGAGAGAAAGAGAGAGAGAGAAAGAATTATTTGCACACATTACGTGGCT ATTATTTAGAAAATAACATGTGGCCAGGTGCAGTGGCTCATACCTATAAT CCCAACACTTTGGGAGGCCGAAGTGGGAGGATTGCTTGAGCCCAGGATTT CAAGACCAGCCTGGGCAACATAGCGAGACCCTGTCTCTGTTAAAAAAAAA TTTTTTTGTAAGAAAAAAAACAGAATAGGCCAGGCGCAGTGGCTCATGCC TGTAATCCCAACACTTCGGGAGGCTGAGGCAGGCAGATCACCTGAGGTCA GGAGTTTGAGACCAGCCTGACTAACATGGAGAAACCCCATCTCTACTAAA AATACAAAGTTAGCTGGGCGTGGTGGTGC	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
TCF25_chr16_89868592_89916379	89908710	C C	CCTCCCTC others(700): Show CCTCCCTCCTCCCAGCTCCCACCTCCCTCCTCCCACCTCCCAGTTCCCGC CTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGC TCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCT CCCGGCTTCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTC CTGCCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCC CATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCC AGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTA GTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCTC CTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCC TCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCT CCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTC CCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCC CAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCC AGCTCCCAGCTCCCACCTTCCAGCTCCCAGCTCCCAGCTCCCGCCTCCCG CCTCCCAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	300	0.0033	707	c.179 others(726): Show c.1799+1393_1799+1394insTCCTCCCAGCTCCCACCTCCCTCCTC CCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCC AGCTCCCACCTAGCAGCTCCCGGCTTCTGGCTCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCTGCCTCCCTCCTCCCACCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCC AGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCA CCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCAC CTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACC TCCTTCCTCGCAGTTCCCAGCTCCCAGCTCCCACCTTCCAGCTCCCAGCT CCCAGCTCCCGCCTCCCGCCTCCCAGCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TOR4A_chr9_137272726_137287641	137286007	T T	TATGTTGG others(700): Show TATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCTTCCTGC CTCATCTTCCCAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGCCT AATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTATGTTGGCCAGA CTGGTCTTGAACTCCTGACCTCAGGTGATCTTCCTGCCTCATCTTCCCAG TGTTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTAATTTTTGTATTT TTTAGTAGAGACGGGGTTTCACTGTATGTTGGCCAGACTGGTCTTGAACT CCTGACCTCAGGTGATCTTCGCACCTCAGCTTCCCAGTGTTGGGATTACA GGCGTGAGCCACTGTGCCTGGCTGTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGTTGCCCAGGCTAGAGTGAAGCGATCTTGGCTCACT GCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGA GTAACTGGGACTACAGGCAACTGCCACCACGCCCGGCTAATTTTTGTATT TTTAGTAGAGAGGGGGTTTCGCCATCTTGACCAGGCTGGTCTCGAATACT TCTGACCTCGTTATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACA GGCGTGAGCCACCGTGCCCGGTCAATTTTTGTATTTTTAGTAGAGACAGG GTTTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0018 a0002c0008t0018	a0002c0008t0018g0001 a0002c0008t0018g0001	1	408	0.0025	707	c.60 others(718): Show c.6046_*6047insATGTTGGCCAGACTGGTCTTGAACTCCTGACCTC AGGTGATCTTCCTGCCTCATCTTCCCAGTGTTGGGATTACAGGCGTGAGC CACTGCACCTGGCCTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCAC TGTATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCTTCCT GCCTCATCTTCCCAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGGC CTAATTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTATGTTGGCCA GACTGGTCTTGAACTCCTGACCTCAGGTGATCTTCGCACCTCAGCTTCCC AGTGTTGGGATTACAGGCGTGAGCCACTGTGCCTGGCTGTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGTTGCCCAGGCTAGAGTGAAG CGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCT GCCTCAGCCTCCTGAGTAACTGGGACTACAGGCAACTGCCACCACGCCCG GCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTCGCCATCTTGACCAGG CTGGTCTCGAATACTTCTGACCTCGTTATCCACCCACCTCGGCCTCCCAA AGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCGGTCAATTTTTGTATT TTTAGTAGAGACAGGGTTTCACC	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3367		chr9	TogoVar
TP73_chr1_3647516_3741201	3694751	G G	GCCCTGCA others(700): Show GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCC ATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCC CCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAAT CCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCC TCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCC TGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCAT GCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0060 a0001c0005t0060	a0001c0005t0060g0178 a0001c0005t0060g0178	1	358	0.0028	707	c.186 others(726): Show c.186+11573_186+11574insCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCAGCCCCTTCCTCCCGCAATCCCACCCATGCA GCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCT CCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCC ATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCAGCC CCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAAT CCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCC TCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCC TGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCA TGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCC TCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCC AGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCA GCCTCAGCCCCCTCCTCCCACAATCCCACCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(700): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCA ATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCC ATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCC CCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATC CCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCC CACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCAT GCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	358	0.0028	707	c.186 others(726): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCC CACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTC AGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTG CAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATG CAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCCT CCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA CCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAA TCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(700): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCA ATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCC ATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCC CCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATC CCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCC CACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCAT GCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(59): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02698.hp2 HG03017.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18948.hp1 NA18968.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18995.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19081.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0015 a0001c0022 a0001c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0033 a0001c0001t0040 a0001c0001t0048 a0001c0001t0052 a0001c0001t0054 a0001c0002t0001 a0001c0002t0008 a0001c0002t0025 a0001c0003t0006 a0001c0003t0017 a0001c0006t0011 a0001c0009t0006 a0001c0009t0017 a0001c0015t0006 a0001c0022t0002 a0001c0025t0001	a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0002g0050 others(59): Show a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0111 a0001c0001t0002g0127 a0001c0001t0002g0146 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0002g0207 a0001c0001t0002g0223 a0001c0001t0002g0237 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0287 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0312 a0001c0001t0002g0325 a0001c0001t0002g0345 a0001c0001t0004g0104 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0007g0311 a0001c0001t0007g0343 a0001c0001t0013g0056 a0001c0001t0013g0281 a0001c0001t0013g0321 a0001c0001t0033g0053 a0001c0001t0040g0141 a0001c0001t0048g0327 a0001c0001t0052g0137 a0001c0001t0054g0269 a0001c0002t0001g0058 a0001c0002t0001g0133 a0001c0002t0001g0240 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0317 a0001c0002t0001g0320 a0001c0002t0008g0319 a0001c0002t0025g0277 a0001c0003t0006g0148 a0001c0003t0006g0307 a0001c0003t0017g0180 a0001c0006t0011g0078 a0001c0009t0006g0076 a0001c0009t0017g0265 a0001c0015t0006g0238 a0001c0022t0002g0100 a0001c0025t0001g0059	62	358	0.1732	707	c.186 others(726): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCC CACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTC AGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTG CAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATG CAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCT CCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA CCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAA TCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(700): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCA ATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CTGCAATCCTAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCC ATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCC CCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATC CCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCC CACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCAT GCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCAC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0348 a0001c0001t0007g0348	1	358	0.0028	707	c.186 others(726): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCTGCAATCCTAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCC CACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTC AGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTG CAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATG CAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCT CCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA CCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAA TCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694857	G G	GCCATGCA others(700): Show GCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCTCTCCTCCCGCA ATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTC CTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCC ATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCC CCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATC CCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCC CACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCAT GCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCT CCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA GCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCA GCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCAC AATCCCAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0280 a0001c0002t0001g0280	1	358	0.0028	707	c.186 others(726): Show c.186+11695_186+11696insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCTCTCCTC CCGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCC CACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTC AGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTG CAATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATG CAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCT CCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCA CCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAG CCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAA TCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCT CCCACAATCCCACCCATGCAGCCTCAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL8_chr22_50013575_50063298	50028618	G G	GAAGACCC others(700): Show GAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGA CCCCCACACACACTCGTAGAGACCCCCATCACACCGTCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACAC TCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTA AAGACCCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGAC CCCATCACACCATCCTGAAGACCCCCACCATGCCCTCGTAAAGACCCCCA TCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACAC CGTCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAAGAC CCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCCCAC ACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATACCC TCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACATACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0033 a0010c0020t0001g0033	1	224	0.0045	707	c.225 others(726): Show c.2251+1811_2251+1812insTAGGACGGTGTGATGGGGTCTTTACG AGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGT GTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATG GTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATGA CGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGT CTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGGG CATGGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGT GGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGGG TCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGGTCTCTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGAT GGGGGTCTTTACGAGGGTATGTGGGGGTCTT	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(700): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATATATTA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATAATAATAATATATATATATTATTATATATAATTATATATAATAATATA ATATATATTATTATATATAATTATATATAATAATATAAATATATTATTAT ATATTATTATATATAATAATATAATATATATTATATATTATTATATATAA TAATATAATATATATTATATATTATTATATATAATAATATAATATATATT ATTATATATTATTATATATAATAATATAATATATATTATTATATATTATT ATATAATATATATTATTATATATTATTATATATAATAATATAATATATAT TATTATATATAATAATATAATATATATTATTATATATTATTATATATAAT AATATAATATATATTATTATATATAATAATATAATATATATTATTATATA TTATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0012	1	238	0.0042	707	c.392 others(724): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATAATAATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATAATATATAA TATATATTATATTATTATATATAATAATATATAATAATATATTTATATTA TTATATATAATTATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATATATTATTATTATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATAATATATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATAATATATAAT AATATATATTATATTATTATATATAATAATATATAATAATATATATTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TAATATATAATAATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(700): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATAT ATTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTAT TACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATT TTTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTA TACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAA GATACAAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG02055.hp2 others(15): Show HG00544.hp2 HG00639.hp2 HG02055.hp2 HG02257.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0283 a0001c0001t0001g0309 a0001c0001t0001g0357 others(11): Show a0001c0001t0001g0283 a0001c0001t0001g0309 a0001c0001t0001g0357 a0001c0001t0001g0362 a0002c0002t0001g0329 a0002c0002t0005g0002 a0002c0002t0005g0117 a0002c0002t0005g0118 a0002c0002t0005g0120 a0002c0002t0005g0121 a0002c0002t0005g0122 a0002c0002t0005g0123 a0002c0002t0005g0124 a0002c0002t0005g0125	18	432	0.0417	707	c.209 others(724): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAAT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGCATATCTGTTGAT CCAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTAC TAATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTC TTCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTC TTATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGA GATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(700): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAGTCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATAT ATTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTAT TACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATT TTTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTA TACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAA GATACAAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0035 a0001c0001t0022g0035	1	432	0.0023	707	c.209 others(724): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAGT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGCATATCTGTTGAT CCAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTAC TAATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTC TTCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTC TTATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGA GATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(700): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCGTTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAAA ACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAATC GTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAAA AAAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATAT ATTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTAT TACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATT TTTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTA TACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAA GATACAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(25): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01943.hp2 HG01978.hp2 HG02273.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 HG04204.hp2 NA18980.hp1 NA18983.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0019 a0002c0002t0002 a0002c0002t0010 a0002c0002t0019	a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0022 others(19): Show a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0022 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0174 a0002c0002t0002g0183 a0002c0002t0010g0352 a0002c0002t0019g0173	28	432	0.0648	707	c.209 others(724): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCGTTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGCATAGTGGTGGGTACCTGTAATC CCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTTG AGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACAA AAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAGCATATCTGTTGAT CCAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTAC TAATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTC TTCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTC TTATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGA GATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF627_chr19_11592483_11624161	11613146	C C	CCTCCCCT others(700): Show CCTCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCC TCCCCCCCTCCCCTTCCCGACCTCCCTCCCCCGTCCCCTCCCCCTCTTCC TCCCCGTCCCCCCTACCCCTCCCCCTTCCACCTCTCCCCTCCTCCTCTCC TCCTCCCACCCCCTCCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCT CCCCCTTCCTCCTCCCCTTCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCC CTTCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTC CCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCT CCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCTCCTCCTCCCCCTC CCCCTCCTCCCTCCCCCTCCCCCTCCTCCCTCCCCTCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCTTCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTA CCCTCCCCTCTCCTCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCCC CCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCC TCCCCTCCCCATCTTCCTCCCCTCCCCATCTTCCCTCCCTCTACTCCCGT CACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTT CCCCCTCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	322	0.0031	707	c.4-1 others(720): Show c.4-1376_4-1375insCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCC TCTCCTCCTCCCTCCCCCCCTCCCCTTCCCGACCTCCCTCCCCCGTCCCC TCCCCCTCTTCCTCCCCGTCCCCCCTACCCCTCCCCCTTCCACCTCTCCC CTCCTCCTCTCCTCCTCCCACCCCCTCCCCCTCCCCCTTCCCTCCTCCCT CCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTCCCCTCCCCCTTCC TCCTCCCCTTCCCTTCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTC CCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCTC CTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCCTCCTCCCTCCCCTCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCTCTCTTCCTCTCCCCT TCCCCTCCCCTACCCTCCCCTCTCCTCCCCTCCTCTTCCCCTCTCCTCCC CTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCC TCCCCTCCTCCCTCCCCTCCCCATCTTCCTCCCCTCCCCATCTTCCCTCC CTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTC CCCTCTCCCCTTCCCCCTCACTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF787_chr19_56082366_56126295	56105887	G G	GCCGCGCC others(700): Show GCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAG TCACCGCGCATTCCCCGCTCCGCGCCCACGGCAGTCACCGCGCATTCCCC CCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGC AGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCC GCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACG GCAGTCACCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACC GCGCATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCC GCGCCCACGGCAGTCACCGCGCAATCCCCCCTCCGCGCCCACGGCAGTCA CCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATT CCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCA CGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCA TTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCT CCGCGCCCACGGCAGTCACCGCGCATTCCCCCTTCCGCGCCCACGGCAGT CACCGCGCATTCCCCCGCCGCGCCCACGGCAGTCACCGCGCATTCCGCAT TCCCCCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0279 a0001c0001t0006g0279	1	410	0.0024	707	c.-10 others(724): Show c.-10-2661_-10-2660insAGGGGGGAATGCGGAATGCGCGGTGACT GCCGTGGGCGCGGCGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAAGG GGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGAC TGCCGTGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGG CGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATG CGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTG GGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAG GGGGGATTGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTG ACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGG AGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAA TGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCG TGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGG AATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGC CGTGGGCGCGGAGCGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGC GGAATGCGCGGTGACTGCCGTGGGCGCGG	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(701): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATATAAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATA TATCAATATATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATT TTTATATTTATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	306	0.0033	708	c.130 others(727): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATATATTGATATATTTATCTATAAATAT AAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTAT ATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS3_chr4_72275969_72574221	72456223	A A	AGTATGTA others(701): Show AGTATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTAT ATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATTTTAT ATATAGTATGTACTATATATTTTATATATAGTATGTACTATATATATTTT ATATATAGTATGTACTATATATATTTTATATATAGTATGTACATTGTATA TACTATATATATATTTTATGTATAGTATGTACTATATATATTTTATGTAT AGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT CATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	182	0.0055	708	c.505 others(727): Show c.505-41253_505-41252insAGTATATATACTATACATAAAATATA TATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATAC AGTATATATACTATACATAAAATATATATAGTACATACAGTATATATACT ATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAATA TATATAGTACATACAGTATATATACTATACATGAAATATATATAGTACAT ACAGTATATATACTATACATAAAATATATATAGTACATACAGTATATATA CTATACATAAAATATATATAGTACATACAGTATATATACTATACATAAAA TATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTAC ATACAGTATATATACTATACATAAAATATATATAGTACATACTATACATA AAATATATATATAGTATATACAATGTACATACTATACATAAAATATATAT AGTACATACTATACATAAAATATATATATAGTATATACAATGTACATACT ATATATAAAATATATATAGTACATACTATATATAAAATATATATAGTACA TACTATATATAAAATATATAGTACATACTATATATAAAATATATAGTACA TACTATATATAAAATATATAGTACATACTATATATAAAATATATAGAGTA CATACTATATATAAAATATATAGAGTACATAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AP2A2_chr11_920870_1017240	964776	C C	CAAAGGAA others(701): Show CAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGTGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	268	0.0037	708	c.136 others(725): Show c.136+5301_136+5302insGGTGGAAAGCATGGAACGGGCGGGAAAT TAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGG GCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGC ATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAG GTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGTGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGA	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	964867	A A	ATGGAAAG others(701): Show ATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGA AGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATC CCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAG GAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGGCGGG AAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGA ACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGA AAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGT GGAGATGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGA TGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAAT AATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGG TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	268	0.0037	708	c.137 others(725): Show c.137-5126_137-5125insATGGAAAGCATGGAACGGGCGGGAAATT AAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCATGGAACGGG CGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGATGGAAAGCA TGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGA TGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAA GCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCC CAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGG AAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGA AATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAA CGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTGGAGGTGGAA AGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGATGGAAGCGTG GAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATAATCCCAGAT GGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTAAAGGAAATA ATCCCAGATGGAAGCGTGGAGGTGGAAAGCATGGAACGGGCGGGAAATTA AAGGAAATAATCCCAGATGGAAGCGTGGAG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASAP2_chr2_9201812_9410678	9406452	A A	AGTCTTCC others(701): Show AGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGA CCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTC AATGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCT TCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTC AGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTG TGACATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0209 a0001c0002t0003g0209	1	210	0.0048	708	c.31 others(719): Show c.3125_*3126insGTCTTCCTCAGGCCTTCAATGTGTGTCACTGAGT GGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGTGTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGT GTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAATGT GTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGT CTTCCTCAGGCCTTCAATGTGTGTCACTGAGTGGACCTCTGTGACATCTA GTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCACTGAGTGGACCTCTGTGA CATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTGTGTCA CTGAGTGGACCTCTGTGACATCTC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		775		chr2	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(701): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCC CACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGC CGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	410	0.0024	708	c.-22 others(725): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTC GCCTCCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP46_chr10_132803392_132947570	132826457	G G	GGAGCCAT others(701): Show GGAGCCATGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACGGAG CCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGGAGGAGC CGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCTGGAGCCACGGA GACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAG AGCCAGGCAGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAG AGACCAGCCACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCACG GAGCCAGGCAGGAACCAGAGCCACAGAGACCAGCCACGGAGCCAGGCAGG AGCCAGAGCCATGGAGCCAGGCAGGAGCCGGAGCCACAGAGACCAGCCAC GGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCCACGGAGCCAGGCAG GAGCCGGAGCCACAGAGACCAGCCACGGAGCCAGGCAGGGGCCAGAGCCA CGGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACGGAGACCAGCC ACGGAGCCAGGCAGGAGCCGGAGCCGCAGAGACCCACCACAGAGCCAGGC AGGAGTCGGAGCCACGGAGCCAGGCAGGAACTGGAGCCACAGAGACCAGC CACGGAGCCAGGCAGGAGCCAGAGCCACAGAGACCAGCCATGGAGCCAGG CAGGAGCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(64): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp2 HG01496.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19090.hp2 NA20805.hp1	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0007 a0016 a0025 a0030 a0033 a0036 a0042 a0044 a0047 a0052	a0002c0002 a0002c0003 a0002c0023 others(19): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0003c0007 a0003c0012 a0003c0028 a0003c0080 a0004c0019 a0004c0038 a0004c0052 a0007c0008 a0016c0031 a0025c0033 a0030c0066 a0033c0048 a0036c0051 a0042c0053 a0044c0055 a0047c0035 a0052c0067	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(20): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0028t0002 a0003c0080t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0007c0008t0002 a0016c0031t0002 a0025c0033t0001 a0025c0033t0003 a0030c0066t0001 a0033c0048t0001 a0036c0051t0001 a0042c0053t0001 a0044c0055t0001 a0047c0035t0001 a0052c0067t0002	a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 others(62): Show a0002c0002t0001g0126 a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0199 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0003c0007t0002g0056 a0003c0007t0002g0057 a0003c0007t0002g0058 a0003c0007t0002g0059 a0003c0007t0002g0060 a0003c0007t0002g0062 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0028t0002g0002 a0003c0080t0002g0074 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0007c0008t0002g0075 a0016c0031t0002g0072 a0025c0033t0001g0238 a0025c0033t0003g0237 a0030c0066t0001g0231 a0033c0048t0001g0224 a0036c0051t0001g0180 a0042c0053t0001g0191 a0044c0055t0001g0183 a0047c0035t0001g0161 a0052c0067t0002g0013	67	246	0.2724	708	c.711 others(727): Show c.7117+6900_7117+6901insTGGCTCCTGCCTGGCTCCATGGCTGG TCTCTGTGGCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTC CAGTTCCTGCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGG GTCTCTGCGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCT CCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCTGGCCCCTGCC TGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTGCCTGGCTCCGTGGC TGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGG CTCCGGCTCCTGCCTGGCTCCATGGCTCTGGCTCCTGCCTGGCTCCGTGG CTGGTCTCTGTGGCTCTGGTTCCTGCCTGGCTCCGTGGCTGGTCTCTGTG GCTCTGGCTCCTGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCAGTTCCT GCCTGGCTCCGTGGCTCCGACTCCTGCCTGGCTCTGTGGTGGGTCTCTGC GGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCCGTGGCTCCAGCCCC TGCCTGGCTCCGTGGCTGGTCTCTGTGGCTCCGGCTCCTCCCTGGCTCCG TGGCTGGTCTCCGTGGCTCCGGCTCCTGCCTGGCTCCGTGGCTGGTCTCT GTGGCTCTGGCTCCTGCCTGGCTCCATGGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(701): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAG GAGGGGGAGCGGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCAGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGA GGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAG GGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGG GGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGGAG GGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0004	1	168	0.0060	708	c.-26 others(717): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCC TCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCCA GCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCC TCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCC TGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(701): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAG GAGGGGGAGCGGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGG GAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGG AGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGG GGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGAAGAGGAG GGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0017	1	168	0.0060	708	c.-26 others(717): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCT CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCCA GCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCC TCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCC TGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(701): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG AGGAGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCT GGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGGAGCTGGGGAG GGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAG GAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGGAGAAGAGGAG GGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0044 a0001c0001t0009g0044	1	168	0.0060	708	c.-26 others(717): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCCTCCACTGCTC CCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTC CTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCCTCCTCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCC CTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCT CCTCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC CTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCC TGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(701): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAAATATATATAATTTTATATATATAATTTTATAT ATAAATATATATAATTATATATTTATATATAAATATATATAATTATATAT TTATATATAAATATATATAATTTTATATATAATATATATAATTTTATATA TTATATATAAATATATATATAATTTATATATAAATATATAAAATTATATA TAAATATATATAATTTATATATAAATATATATAATTATATATAAATATGT ATAATTTTATATATATAAATAGATATAATTTTATATATTTATTTATATAA ATTTTATATATTTATATAAATAAATATATATTTATATATAAAAATTTATA TACAAATATATATAAATATATACAAATATATATATAAATTTATATAAATA TATATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG03209.hp1 others(3): Show HG01243.hp1 HG02559.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp1 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0005c0012	a0001c0001t0008 a0001c0005t0001 a0001c0006t0002 others(2): Show a0001c0001t0008 a0001c0005t0001 a0001c0006t0002 a0001c0006t0004 a0005c0012t0009	a0001c0001t0008g0053 a0001c0005t0001g0090 a0001c0006t0002g0051 others(3): Show a0001c0001t0008g0053 a0001c0005t0001g0090 a0001c0006t0002g0051 a0001c0006t0002g0060 a0001c0006t0004g0004 a0005c0012t0009g0093	6	116	0.0517	708	c.56- others(725): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAAATATATATAAT TTTATATATATAATTTTATATATAAATATATATAATTATATATTTATATA TAAATATATATAATTATATATTTATATATAAATATATATAATTTTATATA TAATATATATAATTTTATATATTATATATAAATATATATATAATTTATAT ATAAATATATAAAATTATATATAAATATATATAATTTATATATAAATATA TATAATTATATATAAATATGTATAATTTTATATATATAAATAGATATAAT TTTATATATTTATTTATATAAATTTTATATATTTATATAAATAAATATAT ATTTATATATAAAAATTTATATACAAATATATATAAATATATACAAATAT ATATATAAATTTATATAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(701): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0003 a0001c0075t0003	a0001c0075t0003g0079 a0001c0075t0003g0079	1	344	0.0029	708	c.85- others(725): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(701): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGATAATGGTC AGAGGAAGGGCCAGGCGGGGTGAGGGACAGGCGGGGTGAGGGGCAGGCGG GGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0194 a0001c0003t0001g0194	1	345	0.0029	708	c.17 others(719): Show c.1711_*1712insCCCCTCACCCCGCCTGCCCCTCACCCCGCCTGTC CCTCACCCCGCCTGGCCCTTCCTCTGACCATTATCCCGCCTGCCCCTCAC CCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGCCCCTCACCCCGCC TGGCCCTTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGACCC TCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCC CGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTG CCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCCTT CCTCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCGCCTG CCCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTT CCTCTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTG GCCCTTCCTGTGACCCTCAGCCCGCCTGGCCCTTCCTGTGACCCTCACCC CGCCTGGCCCTTCCTGTGACCCTCAGCCCGCCTGGCTCTTCCTGTGACCC TCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCTCTTCCTG TGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCC TTCCTGTGACCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCCC others(701): Show CCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC GCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC GCACCCCCACCCCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCTCACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCAC CCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	320	0.0031	708	c.39 others(719): Show c.3990_*3991insAGGGTGGGGGTGAGGGTGGGGGTGCGGGTGCGGG TGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG CGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGG TGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGCGGGTGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DOCK8_chr9_209865_470255	400963	C C	CTCCACCA others(701): Show CTCCACCACCACCACCACCACCACCACCTCCACCACCACCACCACCTCCA CCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCC ACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTC CACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCACC TCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTT CACCATCACCACCTCCACCACCTCCACCATCACCACCACCACCTTCTCCA CCACCACCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACC ATCACCACCACCTCCACCACCACCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCA CCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCTCCACCACC AGCACTTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACCTC CACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCA CCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCC AATATCACT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0004 a0004	a0004c0042 a0004c0042	a0004c0042t0002 a0004c0042t0002	a0004c0042t0002g0197 a0004c0042t0002g0197	1	256	0.0039	708	c.323 others(727): Show c.3234+1704_3234+1705insTCCACCACCACCACCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCA CCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCAGC ACTTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACCTCCAC CATCACCACCACCACCTTCTCCACCACCACCACCACCAGCACTTCCACCA TCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACC ACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCACCTCCAC CATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCT CCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTC ACCATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCAC CACCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATA TTATCACCTTTCCTATCACCTCCAATATCACT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634538	C C	CCCTTTCC others(701): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTT TCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	250	0.0040	708	c.105 others(725): Show c.105-1370_105-1369insCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DRD4_chr11_632269_645706	642838	C C	CCAGGCGG others(701): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGATAATGGTC AGAGGAAGGGCCAGGCGGGGTGAGGGACAGGCGGGGTGAGGGGCAGGCGG GGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	421	0.0024	708	c.22 others(719): Show c.2235_*2236insCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGG AAGAGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGT CACAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGG CGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGG CAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCG GGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGA GGGGCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCA GGCGGGATAATGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGACAGGCGGG GTGAGGGGCAGGCGGGGTGAGGGG	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding		2133		chr11	TogoVar
EXOC2_chr6_480154_698139	601974	A A	ACACATTC others(701): Show ACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTCTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGT GTGCGAATC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18992.hp2 NA18962.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0099 a0001c0002t0003g0043 a0001c0002t0001g0099 a0001c0002t0003g0043	2	272	0.0074	708	c.743 others(725): Show c.743-2750_743-2749insGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTG TGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCAGACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTG GATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCAGACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATT CGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGG GTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGG TGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATG TGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGGATTCG CACACGGGGTGTTCTTGGTGTGAGAATGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FERMT1_chr20_6069845_6128030	6125413	C C	CTGTCCTA others(701): Show CTGTCCTAGGCTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTT TTATTATTTTTTTATTTTTATTTATTTATTTATTTATTTTTTTTATTATA CTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACA GTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTT CAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTG CGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAA AGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTAT ATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTG GTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGC ATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGT AATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAA TTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAAC AGTGTAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0019 a0001c0016t0019	a0001c0016t0019g0187 a0001c0016t0019g0187	1	368	0.0027	708	c.-26 others(719): Show c.-2659_-2658insTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTAT AAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACT ATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAG ACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCC ATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGA AACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCA TATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGA GGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTG CAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAATAAATAAATAA ATAAATAAAAATAAAAAAATAATAAAAAAATAAAACCCCCTAAAAAAAAA AAAAAAAAAAAAAAGCCTAGGACA	FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding		2384		chr20	TogoVar
GRM4_chr6_34013643_34151087	34073265	C C	CCCCACAC others(701): Show CCCCACACACAGACTCACACATCACCACACAGATACACAACACACACACA TATCACACAGATACAGACCACACACACACACACAATCACCACATAGATAC ACACCACACACACACACACACATCACCACATAGATACACACCACACACAC ATCACCATACAGATACACACCACACACACATCTCCACACATTACCATACA AATATACGCCACCCACACACACCCACACATCACCACACAGATACACACCA CAGACACATAATCACCACACACCAGACACACACATCACCACACAGATACA CACCACACACACCCCCATACATCACCACACAGATACACACCACGCACCAC ACAGATACACACCACACACACCCACACATCACCACACACATACCACACAC ACACACAATCACCACACACCACCACACAGGTACAAACCCACAAATCACCA CGCAGATACACACCCCACACAGACACATGCACACACATCACCACACACAC ACCACACACACACATTGCCACACAGACACACACCCACATCACCACACAGC TACATACCACACACACACACCACCACACATCACCACACAGATGCACAACA CACACCCACACATCACCACACAGACACACACACACACATCATCAGATACA CACCACATGCACGTCACCACACAGATACCACACACACGTCATCGGATACA CACCACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01884.hp1 HG02027.hp1 others(17): Show HG00408.hp1 HG01884.hp1 HG02027.hp1 HG02071.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03225.hp1 HG03516.hp2 NA18990.hp1 NA18995.hp1 NA19054.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0012	a0001c0002t0001 a0001c0002t0006 a0001c0002t0018 others(4): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0018 a0001c0003t0004 a0001c0005t0005 a0001c0006t0011 a0001c0012t0001	a0001c0002t0001g0014 a0001c0002t0001g0080 a0001c0002t0001g0098 others(16): Show a0001c0002t0001g0014 a0001c0002t0001g0080 a0001c0002t0001g0098 a0001c0002t0001g0144 a0001c0002t0001g0182 a0001c0002t0006g0120 a0001c0002t0006g0123 a0001c0002t0006g0186 a0001c0002t0006g0192 a0001c0002t0006g0220 a0001c0002t0006g0253 a0001c0002t0018g0265 a0001c0002t0018g0266 a0001c0003t0004g0094 a0001c0005t0005g0002 a0001c0005t0005g0174 a0001c0005t0005g0275 a0001c0006t0011g0130 a0001c0012t0001g0015	20	282	0.0709	708	c.737 others(727): Show c.737-11238_737-11237insTGTGTGGTGTGTATCCGATGACGTGT GTGTGGTATCTGTGTGGTGACGTGCATGTGGTGTGTATCTGATGATGTGT GTGTGTGTGTCTGTGTGGTGATGTGTGGGTGTGTGTTGTGCATCTGTGTG GTGATGTGTGGTGGTGTGTGTGTGTGGTATGTAGCTGTGTGGTGATGTGG GTGTGTGTCTGTGTGGCAATGTGTGTGTGTGGTGTGTGTGTGGTGATGTG TGTGCATGTGTCTGTGTGGGGTGTGTATCTGCGTGGTGATTTGTGGGTTT GTACCTGTGTGGTGGTGTGTGGTGATTGTGTGTGTGTGTGGTATGTGTGT GGTGATGTGTGGGTGTGTGTGGTGTGTATCTGTGTGGTGCGTGGTGTGTA TCTGTGTGGTGATGTATGGGGGTGTGTGTGGTGTGTATCTGTGTGGTGAT GTGTGTGTCTGGTGTGTGGTGATTATGTGTCTGTGGTGTGTATCTGTGTG GTGATGTGTGGGTGTGTGTGGGTGGCGTATATTTGTATGGTAATGTGTGG AGATGTGTGTGTGGTGTGTATCTGTATGGTGATGTGTGTGTGGTGTGTAT CTATGTGGTGATGTGTGTGTGTGTGTGTGGTGTGTATCTATGTGGTGATT GTGTGTGTGTGTGTGGTCTGTATCTGTGTGATATGTGTGTGTGTTGTGTA TCTGTGTGGTGATGTGTGAGTCTGTGTGTGGG	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GTPBP6_chrX_299759_323796	323556	G G	GTGTGTGT others(701): Show GTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTG GGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGG TGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTC TCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGG CGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGC CCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGA CGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTC CTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCG TCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCA TAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTG TGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTC CGTCTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAGGTGGTGAGC TCAGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0001 a0008c0009t0001g0001	1	155	0.0065	708	c.-47 others(719): Show c.-4770_-4769insTGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGAC GGCTACACACACACACACACACACACACACACGTCCCTGAGCTCACCACC TGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGA GCCCAGGAGATTGACGGCTACACACACACACACACACACACACACACACA CGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACA GGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACAC ACACACACACACACACACACAAACGTCCCTGAGCTCACCACCTGGGGACG CCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGA GACTGACGGCTACACACACACACACACACACACACACACACACACAAACG TCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGG GCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACAC ACACACACACACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCAT CTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTA CACACACACACACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4761		chrX	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(701): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTATA TTTTATTATATTTTATTTTATATTTTATTTTATATTTTATTTTATATTTT ATTTTATATTTTATTTTATATTTTATTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0132 a0003c0003t0001g0132	1	394	0.0025	708	c.41- others(723): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAATAAAATATAAAATAAAATATAAAATAAAATATAAAATAAAATATAA AATAAAATATAAAATAAAATATAATAAAATATAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(701): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCATCACCACCACCATCACCATCATCACCATCATCACCGCCACCA CCACCACCACCATCACCATCATCACCACCACCACCATCACCACCACCACC ACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATC ACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCAC CATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCATCACCG CCACCACCACCACCACCATCACCACCACAACCACCACCACCACCACCATC ACCACCACTACCACCACCACCACCACCATCACCACCACCACTACCATCAT CACCACCAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	314	0.0032	708	c.-25 others(725): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCATCACCACCACCATCACCATCATCACC ATCATCACCGCCACCACCACCACCACCATCACCATCATCACCACCACCAC CATCACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCATCATCACCGCCACCACCACCACCACCATCACCATCATCA CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCATCATCACCGCCACCACCACCACCACCATCACCACCACAACCAC CACCACCACCACCATCACCACCACTACCACCACCACCACCACCATCACCA CCACCACTACCATCATCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(701): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCATCACCACCACCATCACCATCATCACCATCATCACCGCCACCA CCACCACCACCATCACCATCATCACCACCGCCACCATCACCACCACCACC ACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATC ACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCAC CATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCATCACCG CCACCACCACCACCACCATCACCACCACAACCACCACCACCACCACCATC ACCACCACTACCACCACCACCACCACCATCACCACCACCACTACCATCAT CACCACCAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	314	0.0032	708	c.-25 others(725): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCATCACCACCACCATCACCATCATCACC ATCATCACCGCCACCACCACCACCACCATCACCATCATCACCACCGCCAC CATCACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCATCATCACCGCCACCACCACCACCACCATCACCATCATCA CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCATCATCACCGCCACCACCACCACCACCATCACCACCACAACCAC CACCACCACCACCATCACCACCACTACCACCACCACCACCACCATCACCA CCACCACTACCATCATCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 8931 hits)