Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
THBS2_chr6_169210785_169258846	169242800	T T	TTCCCACC others(493): Show TTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCT TCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTT CCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTC CCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCC CACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCC ACATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCA CCTTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCA CATTCTCACCTTCCCACCTTTCCACCTTCCCACCACTCCTACCTTCCCAC CTTCCCACATTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCT TCCCACCGCTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCATCA C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0320 a0001c0005t0005g0320	1	396	0.0025	500	c.695 others(515): Show c.695-843_695-842insGTGATGGGAAGGTGGGAGCAGTGGGAAGGT GGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAATGTGGGAAGGTGGGAAGGTAGGAGTGGTGGGAAGGTGG AAAGGTGGGAAGGTGAGAATGTGGGAGCGGTGGGAAGGTAGGAAGGTAGG AGTGGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGG AATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGA AGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAA GGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGG TGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGG TGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTG GGAGCAGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	377471	T T	TGTGCCCC others(493): Show TGTGCCCCACCCAGCCTCTACCCCCCCGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCCACCCAGC CTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCA GCCTCTCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCCGTGCCC CCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	370	0.0027	500	c.-15 others(511): Show c.-1502_-1501insGGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGAG GCACGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGAGAGGCTGGGT GGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGC TGGGTGGGGCACGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGTAG AGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1446		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747874	C C	CTGGGGTA others(493): Show CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0078 a0001c0001t0111g0078	1	314	0.0032	500	c.189 others(515): Show c.189-452_189-451insTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474314	A A	AGTGAGGA others(493): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0086 a0002c0003t0006g0086	1	382	0.0026	500	c.728 others(515): Show c.728-819_728-818insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTGG others(493): Show GGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACC AGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGG TTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCA GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGG GAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA19065.hp1 NA18998.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	2	466	0.0043	500	c.47 others(511): Show c.4712_*4713insGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTG ACCCTTGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCC TGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCCAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTGG others(493): Show GGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACC AGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGG TTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCA GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGG GAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0036 a0002c0002t0006g0036	2	466	0.0043	500	c.47 others(511): Show c.4712_*4713insGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTG ACCCTTGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCC TGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCCAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTGG others(493): Show GGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACC AGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGG TTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCA GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGG GAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0163 a0002c0002t0004g0163	1	466	0.0022	500	c.47 others(511): Show c.4712_*4713insGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTG ACCCTTGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCC TGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCCAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TPO_chr2_1408463_1548673	1490199	C C	CAGTGTAA others(493): Show CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAGACACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAA T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0003 a0008c0016t0003	a0008c0016t0003g0020 a0008c0016t0003g0020	1	130	0.0077	500	c.176 others(519): Show c.1768+2269_1768+2270insCGCCACGAGGGTCCCGCACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGA GACACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(493): Show TTCCCCCTTCCTCCCTCCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCC CCTTCCTCCCTCCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTC CTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGT CCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCC TCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCC TTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCT TCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTT C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	334	0.0030	500	c.657 others(515): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCCTTCCTCCCTCCC CCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCCTTCCTCCCTCCCCCTTC CTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCT CCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(493): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCT CTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCC CCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCT TCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTT C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	334	0.0030	500	c.657 others(515): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCC CCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(493): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCT TCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTT C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	334	0.0030	500	c.657 others(515): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(493): Show TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	338	0.0030	500	c.246 others(519): Show c.246-36120_246-36119insTCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTTCCTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7678930	T T	TATAAATA others(493): Show TATAAATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATA G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0217 a0001c0001t0029g0217	1	250	0.0040	500	c.82+ others(515): Show c.82+5482_82+5483insTATATTTATATATTTAGTTTATAAATATAT ATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAAT ATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAAT ACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTAT AAATACATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5B_chr10_71207570_71307864	71296762	C C	CATATTCC others(493): Show CATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCA CATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCGGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0014 a0002c0005t0014	a0002c0005t0014g0045 a0002c0005t0014g0045	1	368	0.0027	500	c.249 others(515): Show c.2490+90_2490+91insTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC ATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCGGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(493): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGAAGGAGGGAGGGGAGGGAGGGAG AAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGGGAGGGAGGGAGAAAGAG AGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGGAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGGAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAG GAAGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGGAGGAAG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0022 a0001c0001t0014g0022	1	167	0.0060	500	c.53 others(511): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCCTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCC TCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTT TCTCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTC CCTTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCT TCCCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCC TCCCTCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
VCX2_chrX_8164944_8176267	8169164	T T	TCTTCCTC others(493): Show TCTTCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTCCCTCCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTC CTCCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCCCCCTCCCTCCC TCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCTCCCCACAC ACCTCCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTATTCCT CCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCC ACACACCACCTCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCC TCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACAC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0012 a0012	a0012c0032 a0012c0032	a0012c0032t0001 a0012c0032t0001	a0012c0032t0001g0040 a0012c0032t0001g0040	1	115	0.0087	500	c.86 others(509): Show c.867_*868insTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG GGAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGG AGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGAAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		779		chrX	TogoVar
VCX_chrX_7838171_7849143	7844441	A A	AGGAAGAG others(493): Show AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGCGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGCGCGG AAGAGGTGTGTGGGGCGGGAGGAAGAGGTGTGTGGGGAGGGAGGGCGGGA GGCGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGCGAGGAAGAGGTG TGTGGGGAGGGAGGGCGGCCGAGGAATAGGTGGTGTGTGGGGAGGGAGGG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	341	0.0029	500	c.42 others(509): Show c.425_*426insGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG GGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG CGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGCGCGGAAGAGGTGTGTGGGGCGGGAGGAAGAGGTGTGTGGGG AGGGAGGGCGGGAGGCGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG CGAGGAAGAGGTGTGTGGGGAGGGAGGGCGGCCGAGGAATAGGTGGTGTG TGGGGAGGGAGGGC	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		299		chrX	TogoVar
VPS53_chr17_503668_719839	619666	G G	GTGTACCA others(493): Show GTGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC ATGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GCGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC ATGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC ATGCACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GTGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC ATGCACCACCATGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GTGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC ATGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GCACACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 NA18747.hp1 others(7): Show HG02135.hp2 HG02602.hp1 NA18747.hp1 NA18955.hp2 NA18960.hp2 NA18994.hp2 NA19000.hp2 NA19010.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 others(5): Show a0001c0005t0010 a0001c0005t0019 a0001c0005t0020 a0001c0005t0042 a0001c0005t0044 a0001c0005t0045 a0001c0005t0046 a0001c0005t0080	a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 others(7): Show a0001c0005t0010g0008 a0001c0005t0019g0006 a0001c0005t0019g0007 a0001c0005t0020g0005 a0001c0005t0020g0010 a0001c0005t0042g0044 a0001c0005t0044g0096 a0001c0005t0045g0009 a0001c0005t0046g0011 a0001c0005t0080g0092	10	232	0.0431	500	c.111 others(519): Show c.1116+3866_1116+3867insTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGTGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCATGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGTGTGGTGGTACA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(493): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp1 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0208 a0001c0002t0003g0209	2	326	0.0061	500	c.483 others(515): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR87_chr19_37879823_37911594	37881089	A A	AATATATA others(493): Show AATATATATATATTATATATATATATATAATATATATAATATATATATAA TATATATTATATATATTATATATATTATATATATTATATATATATTATAT ATATATTATATATATAATATATATAATATATATATAATATATATTATATA TATAATATATATATATTATATATATAATATATATATTTAATATATATATT ATATATATAATATATATTATATATATAATATATATATTTAATATATATTA TATATATAATATATATATTATATATATAATATATATTTAATATATATATT ATATATATAATATATATATTATATATATATAATATATATATTTAATATAT ATATTATATATATAATATATATATTTAATATATAATATATATATAATATA TATATTATATATATAATATATATATAATATATATATTATATATATAATAT ATATATAATATATATATTATATATATAATATATATATTATATATATATTA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0035 a0003c0004t0001g0035	1	330	0.0030	500	c.38 others(511): Show c.3842_*3843insATAATATATATATAATATATATATTATATATATA ATATATATATTATATATATATTATATATATAATATATATATTATATATAT ATTATATATATAATATATATATTATATATATATTATATATTAAATATATA TATTATATATATAATATATATATTAAATATATATATTATATATATATAAT ATATATATTATATATATAATATATATATTAAATATATATTATATATATAA TATATATATTATATATATAATATATATTAAATATATATATTATATATATA ATATATATTATATATATAATATATATATTAAATATATATATTATATATAT AATATATATATATTATATATATAATATATATTATATATATATTATATATA TTATATATATAATATATATATAATATATATATAATATATATAATATATAT AATATATATAATATATATTATATATATATTATATATATTATATATATATA TATAATATATATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3733		chr19	TogoVar
ZDHHC20_chr13_21367571_21464303	21448229	C C	CGGGAGGG others(493): Show CGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCATCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGCCCGCCCCTACTGGGAAGTGAGGAGCC CCTCAGCCCGGCCAGCCACCCCGTCCAGGAGGGAGATGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCGGGCAGCCGCCCTGT CCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTC T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0018 a0005c0008t0018	a0005c0008t0018g0005 a0005c0008t0018g0005	1	302	0.0033	500	c.118 others(519): Show c.118+10824_118+10825insAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGCCCGGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCT GGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCATCTCCCTCCTG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCG GGCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCACCTCCCTCCCGGACAGCACGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGG GGGCTGACCCCCCACCTCCCTCCC	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	1/12			chr13	TogoVar
ZFPM2_chr8_105313438_105809539	105380898	A A	AACATATA others(493): Show AACATATAATATATATGTTATATATATTATAATATATATAACATATAATA TATATGTTATATATATTATAATATATATAACATATAATATATATGTTATA TATATTATAATATATATAACATATAATATATATGTTATATATATTATAAT ATATATAACATATAATATATATGTTATATATATTATAATATATATAACAT ATAATATATATGTTATATATATTATAATATATATAACATATAATATATAT GTTATATATATTATAATATATATAACATATAATATATATGTTATATATAT TATAATATATATAACATATAATATATATGTTATATATATTATAATATATA TAACATATAATATATATGTTATATATATTATAATATATATAACATATAAT ATATATGTTATATATATTATAATATATATAATATATAATATATATGTTAT ATATATTATAATATATATAATATATAATATATATGTTATATATATTATAA T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	92	0.0109	500	c.41- others(517): Show c.41-38245_41-38244insCATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATATAATATATATGTTATATATATTATAATATATATAACATATAATATA TATGTTATATATATTATAATATATATAACATATAATATATATGTTATATA TATTATAATATATATAACATATAATATATATGTTATATATATTATAATAT ATATAACATATAATATATATGTTATATATATTATAATATATATAACATAT AATATATATGTTATATATATTATAATATATATAACATATAATATATATGT TATATATATTATAATATATATAACATATAATATATATGTTATATATATTA TAATATATATAACATATAATATATATGTTATATATATTATAATATATATA ATATATAATATATATGTTATATATATTATAATATATATAATATATAATAT ATATGTTATATATATTATAATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF674_chrX_46492725_46550421	46497278	G G	GCCATTTA others(493): Show GCCATTTACCAATTAGTATATTCCTTGTGGGGAAAAGTAGCTTGGTCTAT TGGACTCGTCTCTCTTCACTCCTCTTGTCACCAGGATCTTTCCATTCAGG TCCCATTGTCTTAGCTCAGGGCTCCCTCAGGTACTATCAGCCAGCTGCAG TCTCTTGCTACATGGGCTTCTTCAATATGACTGCTTACTTCATCAAACCA GCAAGGAAAATCTCTCCAGTCTGCTAAGAGTCTTATATAACATAATGTAG TCATGGGAGTGACATCCCATCACCTTTGCCCATAGTCTATTGGCTAGCAG CAGTCTCAGTTTGCCCACCTTCAGGGAAGGGATCATATAGGGCATTAATC ATTGGGGGTCATCTAGGGTTTCTGCCTTAACTGCTAACAGAAGGACAGGG ACAAGAGGGAGTACAAGCATTCAGCAGCACTCACAAATATCACAGTGAAA AGAGCTTTCTTCGGAAGTTCATTTTGTCTCATTACTTGAACACTTAAGCA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0019 a0003c0003t0019g0019	1	287	0.0035	500	c.25 others(511): Show c.2564_*2565insATGCTTAAGTGTTCAAGTAATGAGACAAAATGAA CTTCCGAAGAAAGCTCTTTTCACTGTGATATTTGTGAGTGCTGCTGAATG CTTGTACTCCCTCTTGTCCCTGTCCTTCTGTTAGCAGTTAAGGCAGAAAC CCTAGATGACCCCCAATGATTAATGCCCTATATGATCCCTTCCCTGAAGG TGGGCAAACTGAGACTGCTGCTAGCCAATAGACTATGGGCAAAGGTGATG GGATGTCACTCCCATGACTACATTATGTTATATAAGACTCTTAGCAGACT GGAGAGATTTTCCTTGCTGGTTTGATGAAGTAAGCAGTCATATTGAAGAA GCCCATGTAGCAAGAGACTGCAGCTGGCTGATAGTACCTGAGGGAGCCCT GAGCTAAGACAATGGGACCTGAATGGAAAGATCCTGGTGACAAGAGGAGT GAAGAGAGACGAGTCCAATAGACCAAGCTACTTTTCCCCACAAGGAATAT ACTAATTGGTAAATGG	ZNF674	ENSG00000251192.8	transcript	ENST00000683375.1	protein_coding		446		chrX	TogoVar
ZNF674_chrX_46492725_46550421	46497278	G G	GCCATTTA others(493): Show GCCATTTACCAATTAGTATATTCCTTGTGGGGAAAAGTAGCTTGGTCTAT TGGACTCGTCTCTCTTCACTCCTCTTGTCACCAGGATCTTTCCATTCAGG TCCCATTGTCTTAGCTCAGGGCTCCCTCAGGTACTATCAGCCAGCTGCAG TCTCTTGCTACATGGGCTTCTTCAATATGACTGCTTACTTCATCAAACCA GCAAGGAAAATCTCTCCAGTCTGCTAAGAGTCTTATATAACATAATGTAG TCATGGGAGTGACATCCCATCACCTTTGCCCATAGTCTATTGGCTAGCAG CAGTCTCAGTTTGCCCACCTTCAGGGAAGGGATTATATAGGGCATTAATC ATTGGGGGTCATCTAGGGTTTCTGCCTTAACTGCTAACAGAAGGACAGGG ACAAGAGGGAGTACAAGCATTCAGCAGCACTCACAAATATCACAGTGAAA AGAGCTTTCTTCGGAAGTTCATTTTGTCTCATTACTTGAACACTTAAGCA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02109.hp2 HG02451.hp1 others(10): Show HG00738.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02818.hp1 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0004c0004	a0001c0001t0003 a0001c0001t0010 a0002c0002t0004 others(3): Show a0001c0001t0003 a0001c0001t0010 a0002c0002t0004 a0002c0006t0004 a0003c0003t0012 a0004c0004t0010	a0001c0001t0003g0044 a0001c0001t0010g0015 a0001c0001t0010g0016 others(10): Show a0001c0001t0003g0044 a0001c0001t0010g0015 a0001c0001t0010g0016 a0002c0002t0004g0168 a0002c0002t0004g0169 a0002c0002t0004g0170 a0002c0002t0004g0171 a0002c0002t0004g0172 a0002c0002t0004g0273 a0002c0006t0004g0272 a0003c0003t0012g0017 a0003c0003t0012g0018 a0004c0004t0010g0014	13	287	0.0453	500	c.25 others(511): Show c.2564_*2565insATGCTTAAGTGTTCAAGTAATGAGACAAAATGAA CTTCCGAAGAAAGCTCTTTTCACTGTGATATTTGTGAGTGCTGCTGAATG CTTGTACTCCCTCTTGTCCCTGTCCTTCTGTTAGCAGTTAAGGCAGAAAC CCTAGATGACCCCCAATGATTAATGCCCTATATAATCCCTTCCCTGAAGG TGGGCAAACTGAGACTGCTGCTAGCCAATAGACTATGGGCAAAGGTGATG GGATGTCACTCCCATGACTACATTATGTTATATAAGACTCTTAGCAGACT GGAGAGATTTTCCTTGCTGGTTTGATGAAGTAAGCAGTCATATTGAAGAA GCCCATGTAGCAAGAGACTGCAGCTGGCTGATAGTACCTGAGGGAGCCCT GAGCTAAGACAATGGGACCTGAATGGAAAGATCCTGGTGACAAGAGGAGT GAAGAGAGACGAGTCCAATAGACCAAGCTACTTTTCCCCACAAGGAATAT ACTAATTGGTAAATGG	ZNF674	ENSG00000251192.8	transcript	ENST00000683375.1	protein_coding		446		chrX	TogoVar
ABR_chr17_998519_1184981	1173303	T T	TCCACCCC others(494): Show TCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTC CACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCA CCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACC CAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCGC CCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCC CACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCA ACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCAT CACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCATCACCTCA GC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0247 a0001c0001t0045g0247	1	337	0.0030	501	c.61+ others(516): Show c.61+6363_61+6364insGCTGAGGTGATGGGGGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGAC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGA CTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACT GAGGTGATGTGTGGGGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(494): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGG GAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAG GGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0114 a0004c0008t0001g0114	1	228	0.0044	501	c.259 others(522): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCC TCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCC CTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1326897	C C	CCAGCGCC others(494): Show CCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCA CGGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCCCAGCGCCTC CCCACGGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCG CCTCCCCACTGCCCAGCGCCTCACTGCACAGCGCCTCCCCACTGCCCAGC GCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCC CAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCAC TGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCACCTCC CCACGGCACAGCGCCTCCCCACGGCCCAGCGCCTCCCCACTGCACAGCGC CTCCCCACTGCCCAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCA GCGCCTCCCCACTGCCCAGCGCCTCCCCACTGCCCAGCGCCTCCCCACGG CA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	106	0.0094	501	c.107 others(522): Show c.1077+36130_1077+36131insTGCCGTGGGGAGGCGCTGGGCAGT GGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTG CCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGTGCAGTGGGGAGGCGC TGGGCCGTGGGGAGGCGCTGTGCCGTGGGGAGGTGCTGTGCCGTGGGGAG GCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCCGTGG GGAGGCGCTGGGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCA GTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTG TGCAGTGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCT GTGCCGTGGGGAGGCGCTGTGCCGTGGGGAGGCGCTGGGCCGTGGGGAGG CGCTGGGCCGTGGGGAGGCGCTGGGCCGTGGGGAGGCGCTGTGCCGTGGG GAGGCGCTGGGCCGTGGGGAGGCGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(494): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAC ATATAATATATATTCTCATATATATTATATATACTCATATATATAATATA TATTCTCATATATATATATTATATATTCTCATATATATAATATATATATT CTCATATATAATATATATTCTCATATATATAATATATACTCATATATTAT ATATATTCTCATATATTATATATATACTCATATATAATGTATATATTCTA ATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATATAA TATATATTCTCATATATGACATATTATATATATTCTCATATATATTATAT ATTCTCATATATAATATATATTCTCATATAATATATTATATATTCTCATA TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18960.hp2 NA18962.hp1 others(5): Show HG02027.hp2 NA18960.hp2 NA18962.hp1 NA18970.hp2 NA18983.hp2 NA19010.hp1 NA19056.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0086 a0001c0001t0003 a0001c0001t0015 a0001c0001t0086	a0001c0001t0003g0000 a0001c0001t0015g0000 a0001c0001t0086g0000 a0001c0001t0003g0000 a0001c0001t0015g0000 a0001c0001t0086g0000	8	416	0.0192	501	c.10 others(514): Show c.10504_*10505insTATATGAGAATATATAATATATTATATGAGAA TATATATTATATATGAGAATATATAATATATATGAGAATATATATAATAT GTCATATATGAGAATATATATTATATATGAGAATATATATTATATAAATG AGAAAATATATATTATATATTAGAATATATACATTATATATGAGTATATA TATAATATATGAGAATATATATAATATATGAGTATATATTATATATATGA GAATATATATTATATATGAGAATATATATATTATATATATGAGAATATAT AATATATATATATGAGAATATATATTATATATATGAGTATATATAATATA TATGAGAATATATATTATATGTATATAATATATATGAGAATATATATTAT ATGTATATAATATATATAATATATAATATATAATATATAATATATAATAT ATACATATATACATATAATATATAAACATATAATATATAATATATACATG TAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ARFRP1_chr20_63693647_63712976	63693729	A A	ACCACCTC others(494): Show ACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCTC CACCACCTCCACCACCACCCCTCCACCACCACCACCACCACCACCTTCAC CACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCA CCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCTCCACCACCTCCACCACCACCACCACCTCCAC CACCACCACCACCTCCACCTCCACCACCACCACCCACCTCCTCCACCACC TCCACCTCCACCACCTCCACCACCACCACCACCACCACCACCACCTCCAC CACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCA CCTCCACCACCTCCACCTCCACCACCTCCACCACCACACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCTCCACCCACCACCTCCAA CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0014 a0001c0003t0004g0014	1	296	0.0034	501	c.67 others(512): Show c.6713_*6714insAGTTGGAGGTGGTGGGTGGAGGTGGTGGTGGTGG TGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGTGGTGGTGGAGGTGGTGG AGGTGGAGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTG GTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGT GGAGGTGGTGGAGGTGGAGGTGGTGGAGGAGGTGGGTGGTGGTGGTGGAG GTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGA GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGG TGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTG GTGGTGGAGGTGGTGGTGGTGAAGGTGGTGGTGGTGGTGGTGGTGGAGGG GTGGTGGTGGAGGTGGTGGAGGTGGAGGTGGTGGAGGTGGAGGTGGTGGT GGTGGAGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4917		chr20	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(494): Show ACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC TCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp2 HG00741.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	2	410	0.0049	501	c.-22 others(518): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCN4_chr8_133186039_133236690	133214085	T T	TTATACAT others(494): Show TTATACATACACTATATAGTAGTTATATATACTACATATACACTATATAT AGTAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTA TATATACACTATATATAGTAGTTATATATACTATATATACACTATATATA GTAGTTATATATACTATATATACACTATATATAGTTTATATATACTATAT ATAAACTATATATAGTAGTTATATATACTACTATATATACTACTATATAT AGTATATACTATATATACACTATATATAGTAGTTATATATACTACTATAT ATACTACTATATATAGTATATACTGTATATACACTATATATAGCATATAT ACTATATATACACTATATATAGTAGTTATATATACTATATATACACTATA CATACACTATATATAGTTTATATATACTATATATAGTAGTTATATATACT ATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGTT TA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0078 a0001c0001t0009g0079 a0001c0001t0009g0078 a0001c0001t0009g0079	2	396	0.0051	501	c.349 others(516): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT TTATATATACTATATATAAACTATATATAGTAGTTATATATACTACTATA TATACTACTATATATAGTATATACTATATATACACTATATATAGTAGTTA TATATACTACTATATATACTACTATATATAGTATATACTGTATATACACT ATATATAGCATATATACTATATATACACTATATATAGTAGTTATATATAC TATATATACACTATACATACACTATATATAGTTTATATATACTATATATA GTAGTTATATATACTATATATACTATATATAGTAGTTATATATACTATAT ATACTATATATAGTTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(494): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCCTTCCCCCTCTTCCTACTGCC CCTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCG TCTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCAC TCCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTC TCCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTC TCCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCTCCCTCTT CC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0081 a0001c0001t0008g0081	1	194	0.0052	501	c.75- others(518): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCC TTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCC CTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCT CCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCA CTCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCT CTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCC CTCCCCACTCCCTCCCTCTTCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(494): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTC CCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCC TCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCT CCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCC TCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTT CTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCT CC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0044 a0001c0001t0030g0044	1	270	0.0037	501	c.162 others(522): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCCTCCCCCTCTTCCTCCC CCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCC TCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTC TTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCC CCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCC TCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTC CTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCC CTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCT TCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036063	A A	AGTGTGTG others(494): Show AGTGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGAGTGTG TGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTGTGCGTATG GGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGGAGAGTGTG TGTGTATGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTATGAG TGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTA TGGATGTGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATG GGTGTGTGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGT GTATGGGAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGT GTATGGGAGTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGT GAGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGA GT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 NA18906.hp2 HG02145.hp2 HG02922.hp1 NA18906.hp2	a0006 a0007 a0006 a0007	a0006c0008 a0006c0042 a0007c0035 a0006c0008 a0006c0042 a0007c0035	a0006c0008t0002 a0006c0042t0002 a0007c0035t0002 a0006c0008t0002 a0006c0042t0002 a0007c0035t0002	a0006c0008t0002g0258 a0006c0042t0002g0294 a0007c0035t0002g0285 a0006c0008t0002g0258 a0006c0042t0002g0294 a0007c0035t0002g0285	3	336	0.0089	501	c.341 others(518): Show c.3418+428_3418+429insACTCACTCCCATACACACACACCCATAC TCACACTCCCATACACACACACTCACTCCCATACACACACACCCATACTC ACACTCCCATACTCACTCCCATACACACACCCATACTCACACTCCCATAC ACACACACCCATACACTCCCATACACACTCCCATACACAACCCATACTCA CACTCACTCCCATACACACACACCCATACACTCCCATACACACACTCACT CCCATACACCCATACACACATCCATACTCACACTCCCATACACACACTCC CATACACACACACCCATACTCACACTCATACACACACTCCCATACACACA CATACCCATACACTCCCATACACACACACTCTCCCATACACACCCATACT CACACTCCCATACTCACACACACCCATACGCACACTCCCACTCACACTCA CTCCCATACACTCCCATAGACACACACACTCCCATACACACACATATACA CACACTCCCATACACACACACAC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL19A1_chr6_69861556_70217468	69920979	T T	TGATATAT others(494): Show TGATATATATCATATATACATATGATATATATCATATATACATATGATAT ATACATGATATATATGATATATATGATACATATGATATATATGATATATA TGATACATATGATATATATGATATATATATGATACAAATGATATATATGA TATATATGATATATATCAGATATATATATCATATATATCATATATATCAT TTGTATCATATATATATCATATATATCATATGTATCATATATATCATATA TATCATGTATATATCATATATATCATATATGTATTCATATATATCATATA TTCATATATAATATATATTCATATATCATATATATTCATATATATCATAT AAATTCATATATCATATATATTCATATATATCATATATATTCATATATAT ATCATATATATTCATATATATCATATATATTCATATATATATCATATATA TTCATATATATCATATATATTCATATATATATCATATATATTCATATATA TA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0018 a0002c0003t0002g0018	1	182	0.0055	501	c.267 others(518): Show c.267-6930_267-6929insGATATATATCATATATACATATGATATA TATCATATATACATATGATATATACATGATATATATGATATATATGATAC ATATGATATATATGATATATATGATACATATGATATATATGATATATATA TGATACAAATGATATATATGATATATATGATATATATCAGATATATATAT CATATATATCATATATATCATTTGTATCATATATATATCATATATATCAT ATGTATCATATATATCATATATATCATGTATATATCATATATATCATATA TGTATTCATATATATCATATATTCATATATAATATATATTCATATATCAT ATATATTCATATATATCATATAAATTCATATATCATATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATCATATATA TTCATATATATATCATATATATTCATATATATCATATATATTCATATATA TATCATATATATTCATATATATA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(494): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGG AA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0002 a0002c0044t0002	a0002c0044t0002g0321 a0002c0044t0002g0321	1	344	0.0029	501	c.85- others(518): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCT TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCC TCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(494): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAG GAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGA GGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA AGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAG GG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	344	0.0029	501	c.85- others(518): Show c.85-12974_85-12973insCCCTTCCTGCCTTTCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTT CCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCT GCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(494): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCA TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC TGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCA TCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0247 a0001c0005t0002g0247	1	348	0.0029	501	c.13 others(512): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCAC CCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCAC CCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCT GTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(494): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	367	0.0027	501	c.-42 others(512): Show c.-4257_-4256insGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(494): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	367	0.0027	501	c.-42 others(512): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(494): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	367	0.0027	501	c.-42 others(512): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DIP2C_chr10_269201_694668	477611	G G	GGGGGGAG others(494): Show GGGGGGAGGCGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGAGGAAGGT GGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGAGGAAGGTGGATGG GGGGAGGCGGGGGGAGGAAGGTGGATGGGGGGAGGCGGGGGGGAGGAAGG TGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGAGGCAGGGGGAG GAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGAGGCGGG GGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGAG GCAGGGGGAGGAAGGTGGATGGGGGAGGCAGGGGGAGGAAGGTGGATGGG GGGAGGCAGGGGGAGGAAGGTGGATGGGGGGAGGAAGGTGGATGGGGGGA GGTGGGGGAAGGAAGGTGGATGGGGAGGAAGGTGGATGGAGGGAGGCGGG GGGAGGAAGGTGGATGGGGGGAGGCGGGGGGAGGAAGGTGGATGGGGGAG GC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0011 a0001c0018t0003g0011	1	88	0.0114	501	c.158 others(518): Show c.158-5063_158-5062insGCCTCCCCCATCCACCTTCCTCCCCCCG CCTCCCCCCATCCACCTTCCTCCCCCCGCCTCCCTCCATCCACCTTCCTC CCCATCCACCTTCCTTCCCCCACCTCCCCCCATCCACCTTCCTCCCCCCA TCCACCTTCCTCCCCCTGCCTCCCCCCATCCACCTTCCTCCCCCTGCCTC CCCCATCCACCTTCCTCCCCCTGCCTCCCCCATCCACCTTCCTCCCCCCG CCTCCCCCCATCCACCTTCCTCCCCCCGCCTCCCCCATCCACCTTCCTCC CCCCGCCTCCCCCCATCCACCTTCCTCCCCCTGCCTCCCCCATCCACCTT CCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCCCCCCGCCTCCCCCCAT CCACCTTCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCCCATCCACCT TCCTCCCCCCGCCTCCCCCCATCCACCTTCCTCCCCATCCACCTTCCTCC CCCCGCCTCCCCCCGCCTCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478176	G G	GAAGAAGG others(494): Show GAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGA GGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGA GAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGA GGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGGGAGGGGAGAAGAAGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGAAGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGG AGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGG AGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGG AGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGG AGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAG AA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	88	0.0114	501	c.158 others(518): Show c.158-5628_158-5627insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC TTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTC CCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTC CCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCTCT CCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCT CCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTT CTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTT CTTCTCCCCTCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	894862	G G	GGGGAGAG others(494): Show GGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCTGGCAGGGGCGGGG TGGGGGGAGTGGAGTGGCGGCTGGCAGGGGCGGGGTGGGGAAAGTGGAGC GGTGGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGGGC GGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCTGGCAGGGG CGGGGTGGGGACAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGC GGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGC AGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCCGG CAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGTTGGCAGGGGCGGGGTGGG GAAAGTGGGGTGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGGTG GCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGCGGG GT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	501	c.19- others(518): Show c.19-13015_19-13014insTGGCAGGGGCGGGGTGGGGGGAGTGGAG TGGCGGCTGGCAGGGGCGGGGTGGGGAAAGTGGAGCGGTGGATGGCAGGG GTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGGGCGGGGTGGGGAGAGC GGAGTGGTGACTGGCAGGGGTAGCGGCTGGCAGGGGCGGGGTGGGGACAG CAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGGCTGG CAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGCGGGGTGGG GAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCCGGCAGGGGCGGGGTGG GGGGAGTGGAGTGGCGGTTGGCAGGGGCGGGGTGGGGAAAGTGGGGTGGT GGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGGGGCGG GGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGCGGGGTGGGAGAGCGGAG TGGTGACTGGCAGGGGTAGCGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EML1_chr14_99788413_99947060	99927969	G G	GTGGTGGT others(494): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATG GTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGT GA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0086	1	288	0.0035	501	c.190 others(520): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GATGGTGGTGGTGGTGGTGGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FLT4_chr5_180596506_180654600	180615442	G G	GCCCACCG others(494): Show GCCCACCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGGCCCG CCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACT GGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCG GAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCA CTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGC CCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGC CGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTG GGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTA GGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGC ACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGG GC	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA20905.hp2 HG03927.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0334 a0002c0003t0006g0335 a0002c0003t0006g0334 a0002c0003t0006g0335	2	388	0.0052	501	c.321 others(518): Show c.3219+924_3219+925insGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCAGCGGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAG GTGACCAGCGGGACCCAGTGCTCCTAAAGGAAGTGGATTTCGGAAGTGGA GAAGGGAGGTGACCAGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTC GGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAG TGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAG AAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGA GGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCGGAAGTGG AGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCG GAAGTGGAGAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCGAAAGGAAGT GGAGAAGGGAGGTGACCGGTGGG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180615442	G G	GCCCACCG others(494): Show GCCCACCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGGCCCG CCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCGGAGCACT GGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTCG GAGCACTGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCA CTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGC CCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGC CGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTG GGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTA GGAGCACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGC ACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGG GC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(99): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG03486.hp1 HG03688.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18960.hp2 NA18961.hp2 NA18967.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0007 a0009 a0012 a0023 a0025 a0030 a0031	a0001c0001 a0001c0006 a0001c0013 others(11): Show a0001c0001 a0001c0006 a0001c0013 a0001c0052 a0002c0003 a0004c0007 a0005c0018 a0007c0010 a0009c0024 a0012c0017 a0023c0036 a0025c0037 a0030c0050 a0031c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0006t0001 a0001c0013t0001 a0001c0052t0001 a0002c0003t0001 a0002c0003t0019 a0004c0007t0001 a0005c0018t0011 a0007c0010t0001 a0009c0024t0001 a0012c0017t0001 a0023c0036t0001 a0025c0037t0001 a0030c0050t0001 a0031c0053t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0024 others(94): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0293 a0001c0001t0001g0309 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0330 a0001c0001t0001g0356 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0107 a0001c0001t0002g0290 a0001c0001t0003g0050 a0001c0001t0003g0338 a0001c0001t0004g0078 a0001c0001t0004g0087 a0001c0001t0004g0119 a0001c0001t0004g0131 a0001c0001t0004g0142 a0001c0001t0005g0079 a0001c0001t0012g0005 a0001c0001t0012g0357 a0001c0001t0012g0358 a0001c0001t0015g0332 a0001c0001t0020g0361 a0001c0001t0024g0105 a0001c0001t0027g0231 a0001c0006t0001g0154 a0001c0006t0001g0157 a0001c0006t0001g0282 a0001c0013t0001g0146 a0001c0013t0001g0150 a0001c0013t0001g0151 a0001c0052t0001g0153 a0002c0003t0001g0003 a0002c0003t0001g0164 a0002c0003t0001g0243 a0002c0003t0019g0186 a0002c0003t0019g0250 a0004c0007t0001g0010 a0004c0007t0001g0015 a0004c0007t0001g0017 a0004c0007t0001g0185 a0004c0007t0001g0210 a0004c0007t0001g0212 a0005c0018t0011g0041 a0007c0010t0001g0245 a0009c0024t0001g0004 a0012c0017t0001g0328 a0012c0017t0001g0329 a0023c0036t0001g0110 a0025c0037t0001g0249 a0030c0050t0001g0112 a0031c0053t0001g0380	102	388	0.2629	501	c.321 others(518): Show c.3219+924_3219+925insGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAG GTGACCAGCGGGACCCAGTGCTCCTAAAGGAAGTGGATTTCGGAAGTGGA GAAGGGAGGTGACCAGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTC GGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAAAAGGAAG TGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAG AAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGA GGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCGGAAGTGG AGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGATTTCG GAAGTGGAGAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCGAAAGGAAGT GGAGAAGGGAGGTGACCGGTGGG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(494): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGA GGAGGAGAAGAAAGAGGAGGAGGAAGATGAGGAGGAGGAGGAAGATGGGG AGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGG AGGGGGAGTGGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGA GGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAGTGGGGGGAGGAGGAGA AGAAAGAGGAGGAGGAAGATGAGGAGGAGGAGGAAGATGGGGAGGAGGAG GGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAG TGGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGG AGGAAGATGGGGAGGAGGAGGGGGAGTGGGGGGAGGAGGAGAAGAAAGAG GAGGAGGAAGATGGGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATG GA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	2	143	0.0140	501	c.590 others(518): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACT CCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCTCC TCTTTCTTCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCCCCCACTCC CCCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCCATCTTCCTCCTCCT CCTCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACTCCCCCTCC TCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTT CTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCCCCCACTCCCCCTCCTC CTCCCCCCCACTCCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCATCT TCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCC CCCCACTCCCCCTCCTCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GET4_chr7_871554_901436	893268	C C	CGGTGGTG others(494): Show CGGTGGTGTGTGCAGGTGAGTGTTGGGCGCGGGCGCGGTGGTGTGTGCAG GTGAGTGTTGGGCGCGGGCGTGGTGGTGGTTGCAGGTGAGTGTTGGGTGT GGGCGTGGTGTGTGCAGGTGAGTGTTGGGCGTGGGCGCGGTGGTGTGTGC AGGTGAGTGTTGGGTGCAGGCATGGTTGCAGGTGAGTGTTGGGCGCGGGC GCGGTGGTTTGTGCAGGTGAGTGTTGGGTGCGGGCATGGTGGTTGCAGGT GAGTGTTGGGTGTAGGCGTGGTGGTGTGTGCAGGTGAGTGTTGGGTGCAG GCATGGTTGCAGGTGAGTGTTGGGCGCGGGCGCGGTGGTTTGTGCAGGTG AGTGTTGGGTGCGGGCATGGTGGTTGCAGGTGAGTGTTGGGTGTAGGCGT GGTGTGTGCAGGTGAGTGTTGGGTGTAGGCGTGGTGGTGTTTGCAGGTGA GTGTTGGGCGCGGGCGCGGTGGTGTGTGCAGGTGAGTGTTGGGCGTGGGC GT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0057 a0001c0001t0001g0058	2	384	0.0052	501	c.747 others(516): Show c.747-178_747-177insTGCAGGCATGGTTGCAGGTGAGTGTTGGGC GCGGGCGCGGTGGTTTGTGCAGGTGAGTGTTGGGTGCGGGCATGGTGGTT GCAGGTGAGTGTTGGGTGTAGGCGTGGTGTGTGCAGGTGAGTGTTGGGTG TAGGCGTGGTGGTGTTTGCAGGTGAGTGTTGGGCGCGGGCGCGGTGGTGT GTGCAGGTGAGTGTTGGGCGTGGGCGTGGTGGTGTGTGCAGGTGAGTGTT GGGCGCGGGCGCGGTGGTGTGTGCAGGTGAGTGTTGGGCGCGGGCGTGGT GGTGGTTGCAGGTGAGTGTTGGGTGTGGGCGTGGTGTGTGCAGGTGAGTG TTGGGCGTGGGCGCGGTGGTGTGTGCAGGTGAGTGTTGGGTGCAGGCATG GTTGCAGGTGAGTGTTGGGCGCGGGCGCGGTGGTTTGTGCAGGTGAGTGT TGGGTGCGGGCATGGTGGTTGCAGGTGAGTGTTGGGTGTAGGCGTGGTGG TGTGTGCAGGTGAGTGTTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLIS2_chr16_4311067_4344595	4344389	T T	TGAGAGGA others(494): Show TGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGTGAGAGGAGGGG GTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTCTGAGAGGA GGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGA GGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGT GAGAGGAGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTC TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGGG ACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGA GGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAG AGGAGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGT GAGAGGAGGGGGTTCCGTGAGAGGAGGTGACTGTGTGAGAGGAGGGGGTT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0112 a0001c0004t0001g0112	1	395	0.0025	501	c.68 others(512): Show c.6865_*6866insGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCT GTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTCTGAGAGGAGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGA GGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAG AGGAGGGGACTGTGTGAGAGGAGGGGTTCCGTGAGAGGAGGGGACTGTGT GAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTT CCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGG GGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGG AGGGGGTTCCGTGAGAGGAGGGACTGTGTGAGAGGAGGGGGTTCTGTGAG AGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAGGTGACTGTG TGAGAGGAGGGGGTTCC	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4795		chr16	TogoVar

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