Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

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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
THEG_chr19_356747_381026	376694	G G	GCCCCACC others(232): Show GCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCC CTGTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0327 a0002c0002t0001g0327	1	370	0.0027	239	c.-72 others(248): Show c.-725_-724insGCACACAGGGGGAGAGGCTGGGTGGAGGCACGGGGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC ACAGGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTG GGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		669		chr19	TogoVar
THEG_chr19_356747_381026	376794	T T	TCCGTGCC others(232): Show TCCGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCTC CCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCCGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCC AGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	370	0.0027	239	c.-82 others(248): Show c.-825_-824insGGGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGA GGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACGGAGGGGGAGAGGCTGGGTGGGGGCACAGG GGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCA CGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		769		chr19	TogoVar
TRIM46_chr1_155168849_155189970	155188986	G G	GGGGCCGG others(232): Show GGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGC GGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGG CTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTG ACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGG GGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	348	0.0029	239	c.47 others(250): Show c.4796_*4797insGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACC GTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCG AGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTG TCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGC CGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGG AGCCC	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4017		chr1	TogoVar
TRIML1_chr4_188134441_188152743	188151871	A A	AGAGTGGG others(232): Show AGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAG TGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGG GGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGA GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0007	1	228	0.0044	239	c.44 others(250): Show c.4499_*4500insGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGA GAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGGGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAA GGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4129		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151871	A A	AGAGTGGG others(232): Show AGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAG TGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGA GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01258.hp2 HG01517.hp2 others(8): Show HG01175.hp2 HG01258.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG02723.hp2 HG03579.hp1 HG03704.hp2 HG04184.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0033 a0002c0002t0002g0001 a0002c0002t0002g0020 others(3): Show a0001c0001t0001g0033 a0002c0002t0002g0001 a0002c0002t0002g0020 a0002c0002t0002g0130 a0002c0002t0002g0134 a0002c0002t0002g0137	11	228	0.0483	239	c.44 others(250): Show c.4499_*4500insGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGA GAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAA GGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4129		chr4	TogoVar
TWIST2_chr2_238843085_238915534	238870876	A A	ACACCCCA others(232): Show ACACCCCACACACACATCACATACCCCACACACCACACACCCCCACACAC CACACACCCCCACACACCACACACCCCACACACACCACACACCCCACACA CACCACCCCACACACACCACACACACCACACACACCACACACCCCCCACA CACCACACCCCACACACACCACACACCCCACACACACATCACATACCCCA CACACCACACACCCCACACACACCACACACCCCCACACAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	338	0.0030	239	c.35 others(258): Show c.35+22146_*35+22147insCCCACACACACATCACATACCCCACA CACCACACACCCCCACACACCACACACCCCCACACACCACACACCCCACA CACACCACACACCCCACACACACCACCCCACACACACCACACACACCACA CACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCA CACACACATCACATACCCCACACACCACACACCCCACACACACCACACAC CCCCACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871097	C C	CACACACC others(232): Show CACACACCCACACACACCACACACCCCACACACCCCCCACACACCACACC CCCACACCACACCCACACACACACCACACCCACACACACCACACACCCCA CACACACCACACCCACACACACCACACACACACACACACCACACACACAT CACACACCACACACAACCACACACCACACACACACCACACACCCTACACA CCCACACACCCCACACACACCACACCCCACACACACCACA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	338	0.0030	239	c.35 others(258): Show c.35+22364_*35+22365insACACACCCACACACACCACACACCCC ACACACCCCCCACACACCACACCCCCACACCACACCCACACACACACCAC ACCCACACACACCACACACCCCACACACACCACACCCACACACACCACAC ACACACACACACCACACACACATCACACACCACACACAACCACACACCAC ACACACACCACACACCCTACACACCCACACACCCCACACACACCACACCC CACACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UBE2U_chr1_64198623_64272368	64239157	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	330	0.0030	239	c.596 others(256): Show c.596-2494_596-2493insGAAGAAGAAGAAGAAGAAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(232): Show CATATATATATACGTATATATATATACACATATATATATACGTATATATA TATATATGTGTATATATATATATACGTATATATATATGTGTATATATATA TACGTATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATAT GTATATATATATACGTATATATATATGTGTATATATATATACGTATATAT GTATATATATGTGTATATATATATGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	452	0.0022	239	c.802 others(256): Show c.802-2913_802-2912insACACATATATATATACGTATATATATAT ATATGTGTATATATATATATACGTATATATATATGTGTATATATATATAC GTATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGTA TATATATATACGTATATATATATGTGTATATATATATACGTATATATGTA TATATATGTGTATATATATATGTATATATATGTGTATATATATATATACG TATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(232): Show CATATATATATACGTATATATATATACACATATATATATACGTATATATA TATATGTGTATATATATATATACGTATATATATATGTGTATATATATATA CGTATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGT ATATATATATATACGTATATATATATGTGTATATATATATACGTATATAT GTATATATATGTGTATATATATATGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	452	0.0022	239	c.802 others(256): Show c.802-2913_802-2912insACACATATATATATACGTATATATATAT ATGTGTATATATATATATACGTATATATATATGTGTATATATATATACGT ATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGTATA TATATATATACGTATATATATATGTGTATATATATATACGTATATATGTA TATATATGTGTATATATATATGTATATATATGTGTATATATATATATACG TATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(232): Show CATATATATATACGTATATATATATACACATATATATATACGTATATATA TATATGTGTATATATATATATACGTATATATATATGTGTATATATATATA CGTATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGT ATATATATATATACGTATATATATGTGTATATATATATACGTATATATAT GTATATATATGTGTATATATATATGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	452	0.0044	239	c.802 others(256): Show c.802-2913_802-2912insACACATATATATATACGTATATATATAT ATGTGTATATATATATATACGTATATATATATGTGTATATATATATACGT ATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGTATA TATATATATACGTATATATATGTGTATATATATATACGTATATATATGTA TATATATGTGTATATATATATGTATATATATGTGTATATATATATATACG TATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(232): Show CATATATATATACGTATATATATATACACATATATATATACGTATATATA TATATGTGTATATATATATATACGTATATATATGTGTATATATATATACG TATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGTAT ATATATATATACGTATATATATATGTGTATATATATATACGTATATATAT GTATATATATGTGTATATATATATGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	452	0.0022	239	c.802 others(256): Show c.802-2913_802-2912insACACATATATATATACGTATATATATAT ATGTGTATATATATATATACGTATATATATGTGTATATATATATACGTAT ATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGTATATA TATATATACGTATATATATATGTGTATATATATATACGTATATATATGTA TATATATGTGTATATATATATGTATATATATGTGTATATATATATATACG TATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109106907	A A	ATATATAT others(232): Show ATATATATATACACATATATATATACGTATATATATATATGTGTATATAT ATATATACGTATATATATATGTGTGTATATATATACGTATATATATGTGT ATATATATATGTTTTTTTTTGAGATAGATATATGTATATATATATATACG TATATATATATGTGTATATATATATACGTATATATGTATATATATGTGTA TATATATATGTATATATATGTGTATATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	452	0.0022	239	c.802 others(256): Show c.802-2913_802-2912insACACATATATATATACGTATATATATAT ATGTGTATATATATATATACGTATATATATATGTGTGTATATATATACGT ATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGTATA TATATATATACGTATATATATATGTGTATATATATATACGTATATATGTA TATATATGTGTATATATATATGTATATATATGTGTATATATATATATACG TGTATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP15_chr12_62255404_62421389	62320775	C C	CAAAACTA others(232): Show CAAAACTACTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	348	0.0029	239	c.476 others(254): Show c.476-681_476-680insTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAACTAC	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX2_chrX_8164944_8176267	8169616	C C	CCTCTTCC others(232): Show CCTCTTCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	115	0.0087	239	c.41 others(248): Show c.415_*416insTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGG GGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAA GAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		327		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532759	T T	TCCTCCCT others(232): Show TCCTCCCTCCCTCCCCACACACCACCTCTCCCTCCCTCCCTCCCTCCCCA CACACCTCTTCCTCCCTCCCTCCCCACACACCACCGCTTCCTCCCTCCCT CCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCC TCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0022 a0022	a0022c0022 a0022c0022	a0022c0022t0003 a0022c0022t0003	a0022c0022t0003g0031 a0022c0022t0003g0031	1	74	0.0135	239	c.98 others(248): Show c.985_*986insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGG AGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		858		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6532973	C C	CCCTCCCT others(232): Show CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCC CTCCCTCCCCACACACCTCCTCTTCCCCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0003 a0015c0016t0003	a0015c0016t0003g0030 a0015c0016t0003g0030	1	74	0.0135	239	c.77 others(248): Show c.771_*772insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		644		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11604262	A A	ATGAATTC others(232): Show ATGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATC CTCCACAGCTCTGTGAATTCCATCTTCCAAAGCCCCCCACGCCCCCGCCC ACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCA CGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCC AAAGCACCCCCACGCCCACCCCCCACCCCCAATCCTCCAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0091 a0001c0001t0001g0108 a0001c0001t0001g0109 others(1): Show a0001c0001t0001g0091 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0006g0090	4	388	0.0103	239	c.83- others(254): Show c.83-2241_83-2240insGTGGAGGATTGGGGGTGGGGGGTGGGCGTG GGGGTGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGG GGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAG GATTGGGGGTGGGCGGGGGCGTGGGGGGCTTTGGAAGATGGAATTCACAG AGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGA TGGAATTCA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11604262	A A	ATGAATTC others(232): Show ATGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATC CTCCACAGCTCTGTGAATTCCATCTTCCAAAGCCCCCCACGCCCCCGCCC ACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCA CGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCC AAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0228 a0001c0005t0003g0228	1	388	0.0026	239	c.83- others(254): Show c.83-2241_83-2240insGTGTAGGATTGGGGGTGGGGGGTGGGCGTG GGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGG GGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAG GATTGGGGGTGGGCGGGGGCGTGGGGGGCTTTGGAAGATGGAATTCACAG AGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGA TGGAATTCA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VSTM2L_chr20_37898127_37950350	37914404	G G	GTGTGGGG others(232): Show GTGTGGGGGGAGTGTGTGTATATATATATGTGTGTGTATGTAAGTATATG TGTATGTGTGTTTATGTGTATGTGGGTGTATCTGTGTATGTGTGTATATA TGTGTGTAGGGGTGTAGGTGTGTGTACGTGTGTGGGGGGGAGTATTTGGG TGTGTATGTGTGTGTATGTGGTGTGTATATGTGGGGGGAGTGGGTGTGTG TGCGTATGTGTGCGTATGTGTATGTACGTGTGTGCATGTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01361.hp2 others(37): Show HG01109.hp1 HG01167.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0002c0002t0001 a0002c0002t0012 a0003c0003t0001 a0003c0003t0006 a0003c0003t0008 a0005c0004t0009	a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0244 others(36): Show a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0003g0061 a0001c0001t0004g0074 a0001c0001t0004g0251 a0001c0001t0004g0306 a0001c0001t0008g0302 a0001c0001t0010g0243 a0001c0001t0012g0024 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0012g0241 a0003c0003t0001g0276 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0311 a0003c0003t0006g0280 a0003c0003t0008g0277 a0005c0004t0009g0064	40	344	0.1163	239	c.121 others(258): Show c.121+10939_121+10940insGGGAGTGTGTGTATATATATATGTGT GTGTATGTAAGTATATGTGTATGTGTGTTTATGTGTATGTGGGTGTATCT GTGTATGTGTGTATATATGTGTGTAGGGGTGTAGGTGTGTGTACGTGTGT GGGGGGGAGTATTTGGGTGTGTATGTGTGTGTATGTGGTGTGTATATGTG GGGGGAGTGGGTGTGTGTGCGTATGTGTGCGTATGTGTATGTACGTGTGT GCATGTCTGTGGG	VSTM2L	ENSG00000132821.12	transcript	ENST00000373461.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
VSTM2L_chr20_37898127_37950350	37914404	G G	GTGTGGGG others(232): Show GTGTGGGGGGAGTGTGTGTATATATATATGTGTGTGTATGTAAGTATATG TGTATGTGTGTTTATGTGTATGTGGGTGTATCTGTGTATGTGTGTGTATA TGTGTGTAGGGGTGTAGGTGTGTGTACGTGTGTGGGGGGGAGTATTTGGG TGTGTATGTGTGTGTATGTGGTGTGTATATGTGGGGGGAGTGGGTGTGTG TGCGTATGTGTGCGTATGTGTATGTACGTGTGTGCATGTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0275 a0003c0003t0004g0275	1	344	0.0029	239	c.121 others(258): Show c.121+10939_121+10940insGGGAGTGTGTGTATATATATATGTGT GTGTATGTAAGTATATGTGTATGTGTGTTTATGTGTATGTGGGTGTATCT GTGTATGTGTGTGTATATGTGTGTAGGGGTGTAGGTGTGTGTACGTGTGT GGGGGGGAGTATTTGGGTGTGTATGTGTGTGTATGTGGTGTGTATATGTG GGGGGAGTGGGTGTGTGTGCGTATGTGTGCGTATGTGTATGTACGTGTGT GCATGTCTGTGGG	VSTM2L	ENSG00000132821.12	transcript	ENST00000373461.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDPCP_chr2_63114559_63593477	63575467	G G	GCAGTATA others(232): Show GCAGTATATACAGTGTATACACTGTATATACTGTATATACTGTGTATACA GTGTATACACTGTATATACAGTATATACAGTGTATACACTGTATATACAG TATATACTGTATATACACTGTATATACAGTATATACAGTATATACACTGT ATATACAGTATATACAGTATATACACTGTATATACAGTATATACAGTATA TACAGTATATACAGTGTATATATAGTATATACAGTATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	216	0.0046	239	c.75+ others(256): Show c.75+12729_75+12730insTATATACTGTATATACTATATATACACT GTATATACTGTATATACTGTATATACTGTATATACAGTGTATATACTGTA TATACTGTATATACAGTGTATATACTGTATATACTGTATATACAGTGTAT ATACAGTATATACTGTATATACAGTGTATACACTGTATATACTGTATATA CAGTGTATACACTGTATACACAGTATATACAGTATATACAGTGTATACAC TGTATATACTG	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR87_chr19_37879823_37911594	37881027	T T	TATATATA others(232): Show TATATATAATATATATATAATATATATATAATATATATTATATATATATA ATATATATAATATATATATATTATATATATATAATATATATAATATATAT ATTATATATATATAATATATATATTATATATATATATAATATATATAATA TATATATATTATATATATTATATATATATTATATATATAATATATATATT TAATATATATATTATATATATAATATATATTTAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0019 a0013c0014t0001g0019	1	330	0.0030	239	c.39 others(250): Show c.3904_*3905insTATATATTAAATATATATTATATATATAATATAT ATATTAAATATATATATTATATATATAATATATATATAATATATATAATA TATATATATTATATATATTATATATATATATAATATATATATTATATATA TATAATATATATATTATATATATTATATATATATAATATATATATATTAT ATATATTATATATATATAATATATATTATATATATATTATATATATATTA TATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3795		chr19	TogoVar
XRCC2_chr7_152639776_152681141	152674705	T T	TATATATA others(232): Show TATATATAAAAATATATTTATATAATATATTTTTAAATATATATTATATA TATTTTTAAATATATATTATATATAATATATATTTAAAAATATATTATAT AAATATATTTTAAAATATGTATTATATATAAATATATTTTTAAATATATA TTATATATAAATATATTTTTAAATATATATTATATATAAATATATTTTTA AATATATATTATATATAAATATATTTTTAAATATATATTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01358.hp2 others(7): Show HG01081.hp2 HG01106.hp1 HG01358.hp2 HG01361.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03654.hp2 HG04204.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0059 a0002c0002t0065 a0002c0002t0008 a0002c0002t0059 a0002c0002t0065	a0002c0002t0008g0306 a0002c0002t0008g0307 a0002c0002t0008g0309 others(7): Show a0002c0002t0008g0306 a0002c0002t0008g0307 a0002c0002t0008g0309 a0002c0002t0008g0310 a0002c0002t0008g0311 a0002c0002t0008g0312 a0002c0002t0008g0313 a0002c0002t0008g0314 a0002c0002t0059g0305 a0002c0002t0065g0308	10	394	0.0254	239	c.39+ others(254): Show c.39+1335_39+1336insTAATATATATTTAAAAATATATTTATATAT AATATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATAT TTATATATAATATATATTTAAAAATATATTTATATATAATACATATTTTA AAATATATTTATATAATATATTTTTAAATATATATTATATATAATATATA TTTAAAAATATATATAATATATATTTAAAAATATATTATATAAATATATT TTTATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(232): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTAATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0042 a0001c0003t0001g0042	1	388	0.0026	239	c.-24 others(256): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTAATCTGTAAAA TTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTAC ATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGA TGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAA TTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTAC ATCTGTAAAAT	ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF34_chr8_144767224_144792317	144767544	A A	ACCCAGCC others(232): Show ACCCAGCCAGAGTCTGAACCTTATAGGCACAAGCCCCTACTCCCAGCAAG AGTCTGAACCTTACAGGCATGAGTCATTGCACCCAGCCAGAGTCTGAACC TTACAGGCATAAGCCCCTACTCCCAGCCAGAGTCTGAAGCTTACAGGCAT CAGTCACTGCACCCAGCCAGAGTCTGAACCTTACAGGCATGAGCACTGCA CCCAGCCAGAGTCTGAACCTTACAGGCATAAGCCCCTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	414	0.0024	239	c.57 others(250): Show c.5721_*5722insAGTAGGGGCTTATGCCTGTAAGGTTCAGACTCTG GCTGGGTGCAGTGCTCATGCCTGTAAGGTTCAGACTCTGGCTGGGTGCAG TGACTGATGCCTGTAAGCTTCAGACTCTGGCTGGGAGTAGGGGCTTATGC CTGTAAGGTTCAGACTCTGGCTGGGTGCAATGACTCATGCCTGTAAGGTT CAGACTCTTGCTGGGAGTAGGGGCTTGTGCCTATAAGGTTCAGACTCTGG CTGGG	ZNF34	ENSG00000196378.13	transcript	ENST00000429371.7	protein_coding		4679		chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370577	C C	CATATAAA others(232): Show CATATAAATCATTATATATCATATACATCATATACATCATATACATCATA TACATCATATATGATATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATATATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATACATATCACATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	350	0.0029	239	c.-38 others(250): Show c.-3895_-3894insATATAAATCATTATATATCATATACATCATATAC ATCATATACATCATATACATCATATATGATATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATATATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATACATATCAC ATATA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3791		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(232): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGATATATATCTCATATATATATCATATATATGATATA TATCTCATATATATATCATATATATGATATATATCTCATATATATATCAT ATATATGATATATATCTCATATATATATCATATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG03139.hp2 HG03453.hp2 HG00639.hp1 HG03139.hp2 HG03453.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0028 a0004c0005t0011 a0001c0001t0028 a0004c0005t0011	a0001c0001t0028g0003 a0004c0005t0011g0162 a0004c0005t0011g0163 a0001c0001t0028g0003 a0004c0005t0011g0162 a0004c0005t0011g0163	3	350	0.0086	239	c.-32 others(250): Show c.-3203_-3202insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGATATATATCTCATATATATATCATATATATGATATATATC TCATATATATATCATATATATGATATATATCTCATATATATATCATATAT ATGAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371269	C C	CATATATA others(232): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGATATATATCTCATATATATATCATATATATGATATA TATCTCATATATATATCATATATATGATATATATCTCATATATATATCAT ATATATGATATATATCTCATATATCTATCATATATATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	350	0.0029	239	c.-32 others(250): Show c.-3203_-3202insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGATATATATCTCATATATATATCATATATATGATATATATC TCATATATATATCATATATATGATATATATCTCATATATCTATCATATAT ATGAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3099		chr10	TogoVar
ACAP3_chr1_1287391_1312930	1290054	T T	TCCCGTGT others(233): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	295	0.0034	240	c.35 others(251): Show c.3509_*3510insGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGG GGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACG GGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGGGCAGAGA CACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2336		chr1	TogoVar
ADAM12_chr10_126007391_126393477	126113565	C C	CGGGCGGA others(233): Show CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCGCG TGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0086 a0002c0006t0011g0086	1	252	0.0040	240	c.604 others(257): Show c.604-3726_604-3725insTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGTAGCT GGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCC	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAC others(233): Show GGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0019 a0003c0041t0019	a0003c0041t0019g0336 a0003c0041t0019g0336	1	354	0.0028	240	c.523 others(259): Show c.523-13463_523-13462insACAGGGACAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAP1_chr7_892900_959680	906655	G G	GGAGAAAG others(233): Show GGAGAAAGGGAAAGGAGAAAGGAGAAGGAGAAAGGAGAAAGGAGAAAGGA GAAAGGAGAAAGGGAAAGGGGAAAGAAAGGGAAAGGGAAGGAAAGGAGAA AGGAGAAAGGAGGAAAGGGAGAAAGGGAAAGGGGGAAGGGGAATGGGGAA GGGGAAAGGGGAAAGGGGAAAGGGGAAAGGAGAAGGAAGGGAAAGGTGAA AGGAGAAAGGGAAGGTGAAAGGAGGAAAGGAGAAAGGGAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	14	0.0714	240	c.389 others(257): Show c.389-1484_389-1483insTTTCCCTTTCTCCTTTCCTCCTTTCACC TTCCCTTTCTCCTTTCACCTTTCCCTTCCTTCTCCTTTCCCCTTTCCCCT TTCCCCTTTCCCCTTCCCCATTCCCCTTCCCCCTTTCCCTTTCTCCCTTT CCTCCTTTCTCCTTTCTCCTTTCCTTCCCTTTCCCTTTCTTTCCCCTTTC CCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTCTCCTTTCTCC TTTCCCTTTCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1237880	C C	CCCTCCCG others(233): Show CCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGTCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTCACTCCCCTCTGTCTCCCGGTGTTCACTCCCCTCTGTCTCCCG GTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0047 a0002c0002t0008g0047	1	106	0.0094	240	c.136 others(259): Show c.1362-4036_1362-4035insCAGAGGGGAGTAAACACCGGGAGGGA GGGGGGAGTAAACACCGGGAGACAGAGGGGAGTGAACACCGGGAGACAGA GGGGAGTGAACACCGGGAGGGAGAGGGGAGTAAACACCGGGAGGCAGAGG GGAGTGAACACCGGGAGACAGAGGGGAGTGAACACCGGGAGGGAGAGGGG AGTAAACACCGGGAGGGAGAGGGGAGTGAACACCGGGAGGGAGGGGGGAG TGAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(233): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0079 a0002c0002t0008g0079	1	218	0.0046	240	c.32- others(253): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AFF2_chrX_148495617_149005663	148581072	C C	CACACATA others(233): Show CACACATATATACACATATGTGTATATATGTATATATACACATATATACA CATATGTGTATATGTATATGTACACATATATACACATATGTGTATATGTA TATGTACACATATATACACATATGTGTATATGTATATGTACACATATATA CACATATGTGTATATGTATATGTACACATATATACACATATGTGTATATG TATATGTACACATATATACACATATGTGTATATGTATATGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18989.hp1 HG00673.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0086 a0001c0001t0085 a0001c0001t0086	a0001c0001t0085g0167 a0001c0001t0086g0031 a0001c0001t0085g0167 a0001c0001t0086g0031	2	169	0.0118	240	c.48- others(257): Show c.48-70914_48-70913insCATATGTGTATATATGTATATATACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CATATATACACATATGTGTATATGTATATGTACACATATATACACATATG TGTATATGTATATGTACACATATATACACATATGTGTATATGTATATGTA CACATATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(233): Show TACACATATGTGTATATGTATATATACACATATATACACATATGTGTATA TGTATATGTACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA CATATACACATATGTGTATATGTATATGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0052 a0001c0001t0081g0052	1	169	0.0059	240	c.48- others(257): Show c.48-70914_48-70913insCATATGTGTATATGTATATATACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACACATATACACATATGTGTATATGTATATGTACA CACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(233): Show TACACATATGTGTATATGTATATATACACATATATACACATATGTGTATA TGTATATGTACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01192.hp1 HG01433.hp1 others(46): Show HG00621.hp1 HG01192.hp1 HG01433.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02602.hp1 HG03017.hp1 HG03654.hp1 HG03688.hp1 HG04204.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19070.hp1 NA19079.hp1 NA19082.hp1 NA19088.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0009 a0003c0008 others(1): Show a0001c0001 a0002c0009 a0003c0008 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0036 a0001c0001t0051 a0001c0001t0055 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0074 a0001c0001t0096 a0001c0001t0104 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0002c0009t0103 a0003c0008t0045 a0004c0006t0012	a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0039 others(46): Show a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0002g0029 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0003g0042 a0001c0001t0003g0086 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0004g0100 a0001c0001t0007g0048 a0001c0001t0008g0051 a0001c0001t0008g0073 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0013g0072 a0001c0001t0014g0055 a0001c0001t0014g0058 a0001c0001t0015g0032 a0001c0001t0015g0060 a0001c0001t0017g0040 a0001c0001t0024g0091 a0001c0001t0024g0093 a0001c0001t0036g0139 a0001c0001t0051g0069 a0001c0001t0055g0025 a0001c0001t0059g0014 a0001c0001t0063g0053 a0001c0001t0064g0084 a0001c0001t0065g0056 a0001c0001t0067g0057 a0001c0001t0068g0169 a0001c0001t0074g0033 a0001c0001t0096g0146 a0001c0001t0104g0049 a0001c0001t0114g0079 a0001c0001t0115g0080 a0001c0001t0116g0075 a0001c0001t0119g0061 a0001c0001t0120g0035 a0001c0001t0121g0046 a0001c0001t0122g0092 a0001c0001t0123g0090 a0002c0009t0103g0050 a0003c0008t0045g0010 a0004c0006t0012g0011	49	169	0.2899	240	c.48- others(257): Show c.48-70914_48-70913insCATATGTGTATATGTATATATACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(233): Show TACACATATGTGTATATGTATATATACACATATATACACATATGTGTATA TGTATATGTACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTGTATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0012 a0001c0001t0042g0012	1	169	0.0059	240	c.48- others(257): Show c.48-70914_48-70913insCATATGTGTATATGTATATATACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TGTATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(233): Show TACACATATGTGTATATGTATATGTACACATATATACACATATGTGTATA TGTATATGTACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0103 a0001c0001t0021g0103	1	169	0.0059	240	c.48- others(257): Show c.48-70914_48-70913insCATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGRN_chr1_1015120_1061116	1049124	G G	GGGGGGCC others(233): Show GGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAG CTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGG AGGGGACGGGGGGGGGGAGGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGG AGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGGGGG GGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0062 a0002c0062	a0002c0062t0011 a0002c0062t0011	a0002c0062t0011g0174 a0002c0062t0011g0174	1	210	0.0048	240	c.429 others(255): Show c.4298+69_4298+70insGCCGGGGCAGCTCAGGTGGGTGGGGTGGGG ACGGGGGCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAG CTCAGGTGGGCGGGGAGGGGACGGGGGGGGGGAGGGGGGGGCCGGGGCAG CTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGG AGGGGACGGGGGGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGT GGGGACGGGG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	24/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1049124	G G	GGGGGGCC others(233): Show GGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAG CTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGG AGGGGACGGGGGGGGGGGAGGGGGGGGCCGGGGCAGCTCAGGTGGGCGGG GAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGGGG GGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp2 HG02970.hp1 HG03139.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0186 a0002c0005t0004g0188 a0002c0005t0004g0186 a0002c0005t0004g0188	2	210	0.0095	240	c.429 others(255): Show c.4298+69_4298+70insGCCGGGGCAGCTCAGGTGGGTGGGGTGGGG ACGGGGGCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAG CTCAGGTGGGCGGGGAGGGGACGGGGGGGGGGGAGGGGGGGGCCGGGGCA GCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGG GAGGGGACGGGGGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGT GGGGACGGGG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	24/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AHCYL1_chr1_109979765_110028742	110005957	C C	CTTTTTTT others(233): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	350	0.0029	240	c.121 others(257): Show c.121-3074_121-3073insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTT	AHCYL1	ENSG00000168710.18	transcript	ENST00000369799.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK3_chr9_4704556_4746202	4735254	T T	TATACATA others(233): Show TATACATATATAAATATATATATACATATATAAATATATATATACATATA TAAATATATATATACATATATAAATATATATACATATATAAATATATATA TACATATATAAATATATATACATATATAAATATATATATACATATATAAA TATATATACATATATAAATATATATATACATATATAAATATATATACATA TATAAATATATATACATATATAAATATATATACATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0262 a0001c0001t0005g0262	1	462	0.0022	240	c.151 others(257): Show c.151+5682_151+5683insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATATTTAT ATATGTATATATATTTATATATGTATATATATATTTATATATGTATATAT ATTTATATATGTATATATATATTTATATATGTATATATATTTATATATGT ATATATATATTTATATATGTATATATATATTTATATATGTATATATATAT TTATATATGTAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK5_chr1_77277019_77564966	77367738	G G	GTTATATG others(233): Show GTTATATGTTATATATATGTTATATATATGTTATATATAATATATGTTAT ATATGTTATATATGTTATATATTATATATAATATATGTTATATATTATAT ATAATATATGTTATATATTATATATAATATATGTTATATATTATATATAA TATATGTTATATATTATATATAATATATGTTATATATTATATATAACATA TGTTATATATTATATATAACATATGTTATATATATTATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01981.hp1 HG04204.hp1 HG01928.hp2 HG01981.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0035 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0035	3	284	0.0106	240	c.891 others(259): Show c.891+27185_891+27186insATGTTATATATATGTTATATATAATA TATGTTATATATGTTATATATGTTATATATTATATATAATATATGTTATA TATTATATATAATATATGTTATATATTATATATAATATATGTTATATATT ATATATAATATATGTTATATATTATATATAATATATGTTATATATTATAT ATAACATATGTTATATATTATATATAACATATGTTATATATATTATATAT TATATGTTATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367738	G G	GTTATATG others(233): Show GTTATATGTTATATATATGTTATATATATGTTATATATAATATATGTTAT ATATGTTATATATGTTATATATTATATATAATATATGTTATATATTATAT ATAATATATGTTATATATTATATATAATATATGTTATATATTATATATAA TATATGTTATATATTATATATAATATATGTTATATATTATATATAATATA TGTTATATATTATATATAACATATGTTATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG06807.hp2 HG02602.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0015 a0002c0002t0002 a0002c0002t0015	a0002c0002t0002g0054 a0002c0002t0015g0110 a0002c0002t0002g0054 a0002c0002t0015g0110	2	284	0.0070	240	c.891 others(259): Show c.891+27185_891+27186insATGTTATATATATGTTATATATAATA TATGTTATATATGTTATATATGTTATATATTATATATAATATATGTTATA TATTATATATAATATATGTTATATATTATATATAATATATGTTATATATT ATATATAATATATGTTATATATTATATATAATATATGTTATATATTATAT ATAATATATGTTATATATTATATATAACATATGTTATATATATTATATAT TATATGTTATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(233): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGG GGGAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGGGG GGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0022 a0001c0001t0006g0022	1	356	0.0028	240	c.667 others(255): Show c.667-817_667-816insTCTCCCCTCCCCCCCTCCCTTCTCTCTCCC CTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCTT CCCCCTCTCCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCCCCC CTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCC CCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCTCTCC CCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATA others(233): Show TATATATATAGAATATATATTTATATATATAGAATATATATATAGAATAT ATATTTATATATATAGAATATATATATAAATATATATTTATATATATAGA ATATATATATAGAATATATATTTATATATATAGAATATATATATAGAATA TATATTTATATATATAGAATATATATATAGAATATATATTTATATATATA GAATATATATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp2 HG02559.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0255 a0001c0001t0004g0256	2	288	0.0069	240	c.70- others(257): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTTATATATATATTCTA TATATATAAATATATATTCTATATATATATTCTATATATATAAATATATA TTCTATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(233): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCATATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02647.hp2 others(8): Show HG01891.hp2 HG02145.hp1 HG02647.hp2 HG02922.hp1 HG03540.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0028	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0031 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0207 a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0012g0301 a0001c0001t0028g0113	11	352	0.0313	240	c.723 others(257): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TATGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ANKRD29_chr18_23593926_23667911	23615974	C C	CTATGTAT others(233): Show CTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGT ATGCATACTCTACACATACCGTATGTACGTATGCATACTCTACACATACC GTATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTC TACACATACCGTATGTATGTATGCATACTCTACACATACCG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	352	0.0028	240	c.723 others(257): Show c.723+1757_723+1758insCGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATACGGTATGTGTAGAGTATGCATACGTACATACGGTATGT GTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA TACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATG CATACATACATA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar

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