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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Select column to sort.

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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
SAMD11_chr1_918923_949574	934959	C C	CAGGGGGG others(727): Show CAGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACTGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACTGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCAGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACTGGTGGGCGGGGGAGGC GGCTGCGTTACTGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGGCGGCTCCGTT ACAGGGGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGAGGCGGCTCCGTTACAGGTGTGCAGGGGAGGCGGCTCCGTTACAG GTGGGCGGGGGAGGCGGCTGTGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0308 a0001c0009t0010g0308	1	434	0.0023	734	c.843 others(749): Show c.843-813_843-812insAGGGGGGGGCGGCTCCGTTACAGGTGGGCA GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACTG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACTGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGGCGGCTCCGTTACAGGTG GGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACTGGTGGGCGGGGGAGGCGGCTGCGTTACTGGTGGGCGGGGGGGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGGGGGCGGCTCCGTTACAGGGGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGTGCAGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGTGTTACAGGTG GGCG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(727): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGG CCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0142 a0001c0003t0002g0142	1	370	0.0027	734	c.284 others(753): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(727): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03239.hp1 NA18998.hp2 HG00735.hp1 HG03239.hp1 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0121 a0001c0003t0002g0132 a0001c0003t0002g0178 a0001c0003t0002g0121 a0001c0003t0002g0132 a0001c0003t0002g0178	3	370	0.0081	734	c.284 others(753): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(727): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0158 a0001c0003t0002g0158	1	370	0.0027	734	c.284 others(753): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(727): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGG GGGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0134 a0001c0003t0002g0134	1	370	0.0027	734	c.284 others(753): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SHC2_chr19_411589_466033	433044	T T	TAGATGGC others(727): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATGGCGC TTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCGGGGCAGATA GATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCG GGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGA GGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGA GAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGATCGTGA GTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATT GTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGA GTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0100 a0001c0003t0002g0100	1	212	0.0047	734	c.111 others(753): Show c.1110+1664_1110+1665insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCT CTCACTCACAATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCT AACTCTCACTCACGATCTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGC CCCGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCAT CTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGA AGCGCCATCTATCTGCCCCGCCTCCTCTATCTCTCACTCACGATCTCACT CACGATGAAGCGCCATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTATCTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCCTCCTCTAT CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCT CTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCC GGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT ATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAG CGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SKI_chr1_2223319_2315213	2282419	T T	TGCCCGAG others(727): Show TGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGA CAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGG TGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGA GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	330	0.0030	734	c.970 others(753): Show c.970-20538_970-20537insTGGAGATCTTCAGAGAGAGGACGCCC GAGAAGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGATGCCCGAGAAGA CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGG TGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTGGAGATCTTC AGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCC CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGTG GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGA TGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA GGCGGTGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGCAG others(727): Show GGAGGCAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGAG GGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGCG AGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAG GCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGG AGGGAGGGTGGGAAGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAG GGAGGGAGGGTGGGAGGGAAGGAGAGGGAGGGAGGGTGGGAGGGAGGGAG AGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGG AGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAG GCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAG GGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAG GGAGGCAGGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAG GCAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGG AGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAG AGGGAGGGAGACGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAG GGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0017 a0002c0008t0002g0017	1	132	0.0076	734	c.227 others(753): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCTGCG TCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCGTC TCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTGCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTC CCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCCC TCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCTTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCTTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCCTC CCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCC TCCCTCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTC CCTGCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGCAG others(727): Show GGAGGCAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGAG GGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGCG AGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAG GCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGG AGGGAGGGTGGGAAGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAG GGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAG AGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGG AGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAG GCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAG GGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAG GGAGGCAGGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAG GCAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGG AGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAG AGGGAGGGAGACGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAG GGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02027.hp1 HG02135.hp2 others(9): Show HG02015.hp1 HG02027.hp1 HG02135.hp2 HG03927.hp1 HG04115.hp1 NA18970.hp1 NA18974.hp1 NA18989.hp1 NA19012.hp1 NA19043.hp2 NA19060.hp2 NA19066.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0006 a0001c0014 a0001c0054 others(5): Show a0001c0006 a0001c0014 a0001c0054 a0001c0058 a0002c0008 a0002c0021 a0002c0030 a0013c0063	a0001c0006t0002 a0001c0006t0009 a0001c0014t0009 others(7): Show a0001c0006t0002 a0001c0006t0009 a0001c0014t0009 a0001c0054t0002 a0001c0058t0009 a0002c0008t0002 a0002c0021t0002 a0002c0021t0026 a0002c0030t0002 a0013c0063t0002	a0001c0006t0002g0039 a0001c0006t0002g0043 a0001c0006t0009g0113 others(9): Show a0001c0006t0002g0039 a0001c0006t0002g0043 a0001c0006t0009g0113 a0001c0014t0009g0112 a0001c0054t0002g0044 a0001c0058t0009g0097 a0002c0008t0002g0020 a0002c0008t0002g0023 a0002c0021t0002g0059 a0002c0021t0026g0055 a0002c0030t0002g0033 a0013c0063t0002g0036	12	132	0.0909	734	c.227 others(753): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCTGCG TCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCGTC TCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTGCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTC CCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCCC TCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCTTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCCTC CCTCTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCC TCCCTCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTC CCTGCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(727): Show ATATATATATAAATATATATAAAAATATATAAAAATATATATAAATATAT ATAAATATATATAAATATATAAATATATATAAATATATATAAATATATAT AAATATATATATAAATATATAAATATATATAAATATATATATAAATATAT AAAAATATATATAAATATATATAAATATATATAAATATATATATAAATAT ATATAAATATATATATAAATATATAAAAATATATATAAATATATATAAAT ATATATATAAATATATATAAATATATATAAATATATATATAAATATATAT AAATATATATAAATATATATAAATATATATAAATATATATAAATGTATAT ATAAATATATATATAAATATATATAAATATATATAACTATATATATAAAT ATATATATAACTATATATAAATATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATAAATATATATATAAATATATATATAAAT ATATATAAATATATATATAAATATATATAAATATATATAAATATATAAAA AATATATATAAATATATAAATATATAAAAAATATATATAAATATATATAA ATATATATAAATATATATATAAATATATAAAAAAATATATATATATAAAA ATATATATAAATATATAAAAATATATTTATATATATAAATATATTTATAT ATAAATATAAATATATATAAATATATAAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	186	0.0054	734	c.-50 others(745): Show c.-5060_-5059insTATATATATAAATATATATAAAAATATATAAAAA TATATATAAATATATATAAATATATATAAATATATAAATATATATAAATA TATATAAATATATATAAATATATATATAAATATATAAATATATATAAATA TATATATAAATATATAAAAATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATAAAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATAAATGTATATATAAATATATATATAAATATATATAAATATATATA ACTATATATATAAATATATATATAACTATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATAAAAAATATATATAAATATATAAATATATAAAAAATATA TATAAATATATATAAATATATATAAATATATATATAAATATATAAAAAAA TATATATATATAAAAATATATATAAATATATAAAAATATATTTATATATA TAAATATATTTATATATAAATATAAATATATATAAATATATAAATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SRXN1_chr20_641615_658200	642200	G G	GGGGGGCC others(727): Show GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	422	0.0024	734	c.65 others(745): Show c.6513_*6514insAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCC CCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGG CAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGC AACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4414		chr20	TogoVar
TECTA_chr11_121096243_121196490	121186127	T T	TAATGAGT others(727): Show TAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTCAATGCTCAATGCTTAATGAATGAGTAGGGA AAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTT AATGAATGAGTAGGGAAAGCAGATGTTCAATGCTGAATGAATGAGTAGGG AAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAA TGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAG TAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATG TTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGC AGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTCAATGCTTAATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01175.hp1 others(1): Show HG00642.hp2 HG00741.hp2 HG01175.hp1 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0002 a0003c0004t0002 a0001c0005t0002 a0003c0004t0002	a0001c0005t0002g0099 a0003c0004t0002g0007 a0003c0004t0002g0082 a0001c0005t0002g0099 a0003c0004t0002g0007 a0003c0004t0002g0082	4	348	0.0115	734	c.600 others(753): Show c.6000-1645_6000-1644insGTGCTTAATGAATGAGTAGGGAAAGC AGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTT AATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAA TGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTGAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGT TCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAA TGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTCA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1272663	G G	GCCATCCA others(727): Show GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCACCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACAACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATC CACAGTCACCACATCAGGCCCCACGACCACCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTACGACC GCCATCCACAGTCACCACATCAGACCCCACGACCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	392	0.0026	734	c.228 others(751): Show c.2287-384_2287-383insTGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGCCTGATGTGGT GACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCG GTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747471	G G	GCTGGGGT others(727): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0230 a0002c0002t0038g0230	1	314	0.0032	734	c.189 others(749): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747471	G G	GCTGGGGT others(727): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0191 a0002c0002t0007g0191	1	314	0.0032	734	c.189 others(749): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747490	G G	GTCTGGGG others(727): Show GTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp1 HG00738.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0236 a0002c0002t0001g0237	2	314	0.0064	734	c.189 others(749): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747490	G G	GTCTGGGG others(727): Show GTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0038 a0002c0002t0013g0038	1	314	0.0032	734	c.189 others(749): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747510	G G	GTCTGGGG others(727): Show GTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGG TAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0039 a0002c0002t0013g0039	1	314	0.0032	734	c.189 others(749): Show c.189-816_189-815insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM163_chr2_134450759_134724000	134608643	A A	AAGGACAG others(727): Show AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAG AACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTA CTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAG ACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGG TGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGA GAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTTTGCTGGTGAA AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCAAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACC CCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGA AAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCC CGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAA AAGGACAGACCCCGAGAACTGTACTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	222	0.0045	734	c.323 others(753): Show c.323-56553_323-56552insCCTTTTCACCAGTACAGTTCTCGGGG TCTGTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTG TCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCAC AGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCT TTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTT CTTGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTC ACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTTTTCACCAGCAAAGTTCTCGGGGTCTGTCCTCCTTTTCACCA GCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTG TCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGT TCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCT TTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTC GGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACC AGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(727): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACCACC ACACACACCACACACACAACACCACACACCACACACACACCACCACACAC CACCACACACCACACACACCACCACACACACACCACCACACACACACCAC ACACCACACACACATACACCACCACACACCACCACACACACCACACACAC AACACACACCACCACACACCACACACACCACCACACACACCACCACACAC ACACCACACACCATACACACACTACCACACACCACCACACACCACCACAC ACACACCACACACACAGCACCACACACACACCACCACACACAACACACAC CACACACACCACCACACACATACCACCACACACACCACCACACACATACA CACCACACCACCACCACATACATACACACCACACACCACCACACACATAC ACACCACACACCACCACACACATACACACCACACACACTACCACCGCATA CATACACACCACACACGCCACCACATACATACCACACACACATACACACC ACCCACACACCACCACACACACCACCACCACACACATACACACCACACAC ACCACCACACACACACCACCACATACATACACACCACACACATACCACCA CACACACACCATCACGCACACCACCACATACACACACCACAGACATACCA CCACACACATACCATCACACACCACTACGCACACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0039 a0001c0005t0039	a0001c0005t0039g0025 a0001c0005t0039g0025	1	244	0.0041	734	c.537 others(751): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGT GTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTG TGGTGGTGTGTGTGGTGTGTATGTGTGTGGTGGTGGTGTGTGTGGTGGTG TGTGGGTGGTGTGTATGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGT GTGTATGTATGCGGTGGTAGTGTGTGTGGTGTGTATGTGTGTGGTGGTGT GTGGTGTGTATGTGTGTGGTGGTGTGTGGTGTGTATGTATGTGGTGGTGG TGTGGTGTGTATGTGTGTGGTGGTGTGTGTGGTGGTATGTGTGTGGTGGT GTGTGTGGTGTGTGTTGTGTGTGGTGGTGTGTGTGTGGTGCTGTGTGTGT GGTGTGTGTGTGGTGGTGTGTGGTGGTGTGTGGTAGTGTGTGTATGGTGT GTGGTGTGTGTGTGGTGGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGT GTGTGTTGTGTGTGTGGTGTGTGTGGTGGTGTGTGGTGGTGTATGTGTGT GTGGTGTGTGGTGTGTGTGTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTG TGTGGTGGTGTGTGGTGGTGTGTGTGTGGTGTGTGGTGTTGTGTGTGTGG TGTGTGTGGTGGTGTGTGTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGT GTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TP53AIP1_chr11_128930370_128947871	128930541	T T	TGGGGGTT others(727): Show TGGGGGTTAGGAAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCTAGGGT TAGGGAGGCCGGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGGTTAGGG AGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCAGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCAGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAG GGTTAGGGAGGCCAGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGG TTAGGGAGGCCAGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCAGGGGTTAGGGAGG CCAGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCAGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0143 a0001c0001t0018g0143	1	466	0.0022	734	c.50 others(745): Show c.5049_*5050insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCC TAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCTG GCCTCCCTAACCCCTGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCTGGCCTCCCTA ACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCTGGCCTCCCTAAC CCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCCTAACCCTGGCCTCCCTAACCCTGGCCTCCCTAACCCCAGCCTCC CTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAA CCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCCTGGCC TCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCCCGGCCTCCCT AACCCTAGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCTAACC CCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTTCCTAACCCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4828		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(727): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TATACTATATCATCATATGATATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0068 a0006c0008t0068	a0006c0008t0068g0109 a0006c0008t0068g0109	1	174	0.0058	734	c.41- others(751): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATATACTATATCATCATATGATATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTLL8_chr22_50013575_50063298	50029009	A A	ATCCTGAA others(727): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCC CACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACAC ACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGAC CCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACCCTC GTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATC ACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	224	0.0045	734	c.225 others(753): Show c.2251+1420_2251+1421insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGT GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGAC GGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTG TGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029267	A A	ATCCTGAA others(727): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACAC CGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCATCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACACTC GTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCGTAAAGA CCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAG ACCCCACACACACTCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0090 a0003c0003t0001g0090	1	224	0.0045	734	c.225 others(753): Show c.2251+1162_2251+1163insCGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGT GTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG TGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTC TTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTG ATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGT CTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACG AGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGT GTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGT CTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(727): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATTATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATAATATA TATTATTATATATAATTATATATAATAATATATATTATATTATTATATAT AATAATATATAATAATATATATTATATTATTATATATAATTATATATAAT AATATAAATATATTATTATATATTATTATATATAATAATATAAATATATT ATTATATATTATTATATATAATAATATAATATATATTATATATTATTATA TATAATAATATAATATATATTATATAATTATATATAATAATATAATATAT ATTATATATTATTATATATAATAATATAATATATATTATTATATATTATT ATATATAATAATATAATATATATTATTATATATAATAATATAATATATAT TATTATATATAATAATATAATATATATTATTATATATAATAATATAATAT ATATTATTATATATTATTATATATAATAATATAATATATATTATTATATA TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03490.hp2 HG00639.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0190 a0001c0001t0001g0191	2	238	0.0084	734	c.392 others(751): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATATTATATTATTATATATAATAATATATATTATATTAT TATATATAATAATATATAATAATATATATTATATTATTATATATAATAAT ATATAATATATATTATATTATTATATATAATTATATAATATATATTATAT TATTATATATAATAATATATAATATATATTATATTATTATATATAATAAT ATATAATAATATATTTATATTATTATATATAATAATATATAATAATATAT TTATATTATTATATATAATTATATATAATAATATAATATATATTATTATA TATTATTATATATAATAATATAATATATATTATTATATATAATTATATAT AATAATATATATTATATTATTATATATAATTATATATAATAATATAATAT ATATTATTATATATAATTATATATAATAATATATATTATATTATTATATA TAATAATATATAATAATATATATTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZBED6_chr1_203790623_203859124	203839978	G G	GTTTTTAG others(727): Show GTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAAC TCCTCACCTCAGGTGATCTGCCCGCCTCCGGCCTCCCAAAGTGTTGGGAT TATAGGCGTGAGCCACCACCCCTGGCATGTTTTAAGCTTTCCAGAGTACT CTAGGGAATCTATGATTGACATAAATCTGTTCTGTGGAGAAAAAAATTTT AACTTTTTTTTTTTTTTTAAATACAGAGTCTCTCTCTGTGGCCCAGGCTG GAGTACAGTGGTGCAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTC AAGTAATTCTCCTGCCTCAGCCTCCCTAGTAGCTAGAATTACAAGTACAT GCCACCATTCCCGGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTTAC CATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCTGC CTTGGCCTCCCAAAGTGCTGGGATTACAGATGTATGCCAACATGCGCAAC AAACGTGTATTTAACTTGTAAAAAGTTTCTGTTCAACTTTTGATTTTTTA AAATCTTTCTTTTTATTTTTTTGAGATAGAGTCTCACTCTTGTCACCCAG GTTGGAGTCCAGTGGCACGATCTCAGCTCATTGCAACCTCTACCTCCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGC ACCTGCCACCATGCCTGGCTAATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03239.hp1 NA18956.hp1 others(3): Show HG02056.hp1 HG03239.hp1 NA18956.hp1 NA18989.hp1 NA19009.hp2 NA19089.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0364 a0005c0006t0010g0365 a0005c0006t0010g0366 others(3): Show a0005c0006t0010g0364 a0005c0006t0010g0365 a0005c0006t0010g0366 a0005c0006t0010g0367 a0005c0006t0010g0368 a0005c0006t0010g0369	6	384	0.0156	734	c.36 others(753): Show c.3673-284_*3673-283insCGAACTCCTCACCTCAGGTGATCTGC CCGCCTCCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACCC CTGGCATGTTTTAAGCTTTCCAGAGTACTCTAGGGAATCTATGATTGACA TAAATCTGTTCTGTGGAGAAAAAAATTTTAACTTTTTTTTTTTTTTTAAA TACAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTACAGTGGTGCAATCTTG GCTCACTGAAACCTCTGCCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGC CTCCCTAGTAGCTAGAATTACAAGTACATGCCACCATTCCCGGCTAATTT TTGTATTTTTAGTAGAAACGAGGTTTTACCATGTTGGCCAGGCTGGTCTC AAACTCCTGACCTCAGGTTATCCACCTGCCTTGGCCTCCCAAAGTGCTGG GATTACAGATGTATGCCAACATGCGCAACAAACGTGTATTTAACTTGTAA AAAGTTTCTGTTCAACTTTTGATTTTTTAAAATCTTTCTTTTTATTTTTT TGAGATAGAGTCTCACTCTTGTCACCCAGGTTGGAGTCCAGTGGCACGAT CTCAGCTCATTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTCCTGCCT CAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTA ATTTTTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAG GCTGGTCT	ZBED6	ENSG00000257315.4	transcript	ENST00000550078.3	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZC3H11A_chr1_203790623_203859124	203839978	G G	GTTTTTAG others(727): Show GTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAAC TCCTCACCTCAGGTGATCTGCCCGCCTCCGGCCTCCCAAAGTGTTGGGAT TATAGGCGTGAGCCACCACCCCTGGCATGTTTTAAGCTTTCCAGAGTACT CTAGGGAATCTATGATTGACATAAATCTGTTCTGTGGAGAAAAAAATTTT AACTTTTTTTTTTTTTTTAAATACAGAGTCTCTCTCTGTGGCCCAGGCTG GAGTACAGTGGTGCAATCTTGGCTCACTGAAACCTCTGCCTCCCGGGTTC AAGTAATTCTCCTGCCTCAGCCTCCCTAGTAGCTAGAATTACAAGTACAT GCCACCATTCCCGGCTAATTTTTGTATTTTTAGTAGAAACGAGGTTTTAC CATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCCACCTGC CTTGGCCTCCCAAAGTGCTGGGATTACAGATGTATGCCAACATGCGCAAC AAACGTGTATTTAACTTGTAAAAAGTTTCTGTTCAACTTTTGATTTTTTA AAATCTTTCTTTTTATTTTTTTGAGATAGAGTCTCACTCTTGTCACCCAG GTTGGAGTCCAGTGGCACGATCTCAGCTCATTGCAACCTCTACCTCCCAG GTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGC ACCTGCCACCATGCCTGGCTAATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03239.hp1 NA18956.hp1 others(3): Show HG02056.hp1 HG03239.hp1 NA18956.hp1 NA18989.hp1 NA19009.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0009g0307 others(3): Show a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0009g0308 a0001c0001t0009g0309 a0001c0001t0009g0310	6	384	0.0156	734	c.974 others(749): Show c.974-284_974-283insCGAACTCCTCACCTCAGGTGATCTGCCCGC CTCCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACCCCTGG CATGTTTTAAGCTTTCCAGAGTACTCTAGGGAATCTATGATTGACATAAA TCTGTTCTGTGGAGAAAAAAATTTTAACTTTTTTTTTTTTTTTAAATACA GAGTCTCTCTCTGTGGCCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTC ACTGAAACCTCTGCCTCCCGGGTTCAAGTAATTCTCCTGCCTCAGCCTCC CTAGTAGCTAGAATTACAAGTACATGCCACCATTCCCGGCTAATTTTTGT ATTTTTAGTAGAAACGAGGTTTTACCATGTTGGCCAGGCTGGTCTCAAAC TCCTGACCTCAGGTTATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGATGTATGCCAACATGCGCAACAAACGTGTATTTAACTTGTAAAAAG TTTCTGTTCAACTTTTGATTTTTTAAAATCTTTCTTTTTATTTTTTTGAG ATAGAGTCTCACTCTTGTCACCCAGGTTGGAGTCCAGTGGCACGATCTCA GCTCATTGCAACCTCTACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGC CTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTT TTTTTTTTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTG GTCT	ZC3H11A	ENSG00000058673.17	transcript	ENST00000367210.3	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF627_chr19_11592483_11624161	11613151	C C	CCCTTCCT others(727): Show CCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCC CCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCC CTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCC TCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTC CTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCC CTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTCTCCTCCTCCCTCCCCTC CCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCTCCCT CCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCC CTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTC CCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCT CCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCC TTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCT TCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACC TGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	322	0.0031	734	c.4-1 others(747): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTC TCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCT TCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCC CCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCC CCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTT CCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCC CCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCC CT	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3			chr19	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAT others(728): Show ACACCCATACACACACCAGACCCCCACACCCCCACACACAGCCACACCCC CACACCCATACACACACACCCACCCACCCACACCCACACCCACCACACAC ACCCACACCCCCCCCACACACCCACATACCCCCACCACACACCCACACAC CCCCTCACACACACACCCACACCCACCACACACCCCCACCACACACCCAC ATACACCCACACCCCCACCACACACCCCCACATACTAATACACACACACC CACACCCTCCCACCCCCCCACCACACACCAATACACACCCACACACCCCC TCACACACACACCCACACACCCACACACCCACCACACACCCATACATACA CACCCCCACACCCCCTCACACCCTCCCCCCACTCACCCATACACAACCCC CACCACACCCCCACACCCATACACACACACACCCCCACCACACCCATACA CACACACACCCCCACCACACCCATACACACACACCCGTACCCCCTCACAC CCTCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACCCAT ACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCCCCA CCACACACCCATACACACACACCCACACACACACCACACCCATACACACA CATACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCAC ACACCCATACACACCCCAACCCCCCACACACACACC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp1 NA20129.hp2 HG02976.hp1 HG03471.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0047 a0001c0001 a0001c0012 a0001c0047	a0001c0001t0006 a0001c0012t0006 a0001c0047t0006 a0001c0001t0006 a0001c0012t0006 a0001c0047t0006	a0001c0001t0006g0028 a0001c0012t0006g0053 a0001c0047t0006g0120 a0001c0001t0006g0028 a0001c0012t0006g0053 a0001c0047t0006g0120	3	248	0.0121	735	c.387 others(754): Show c.3871-3767_3871-3766insGGTGTGTGTGTGGGGGGTTGGGGTGT GTATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTG TGGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTAT GGGTGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGG GTGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTG TGGGGGGAGGGTGTGAGGGGGTACGGGTGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGTGGGGGTGTGTGTGTGTATGGGTGTGG GGGTGTGGTGGGGGTTGTGTATGGGTGAGTGGGGGGAGGGTGTGAGGGGG TGTGGGGGTGTGTATGTATGGGTGTGTGGTGGGTGTGTGGGTGTGTGGGT GTGTGTGTGAGGGGGTGTGTGGGTGTGTATTGGTGTGTGGTGGGGGGGTG GGAGGGTGTGGGTGTGTGTGTATTAGTATGTGGGGGTGTGTGGTGGGGGT GTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTGT GTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGGGTGTGTGGGGG GGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTGGGTGGGTGTGTGTG TATGGGTGTGGGGGTGTGGCTGTGTGTGGGGGTGTGGGGGTCTGGTGTGT GTATGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ACTN2_chr1_236681499_236769631	236756898	A A	AATAGAGT others(728): Show AATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTT ATAGAGTATATACTGCAGAGTGCCCGCTACCACTGTTAGAACCCTGGTAA TAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACGCTGGTAAT AGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATA GAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTTATAG AGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGA GTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAG TATATACTGCAGAGTGCCTGCTGCCACTGTTAGAACCCTGGTAATAGAGT ATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTA TATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTAT ATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAGAGTATA TACTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATAT ACTGCAGAGTGCCCGCTGCCACTGTTAGAACGCTGGTAATAGAGTATATA CTGCAGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	344	0.0029	735	c.215 others(752): Show c.2155-545_2155-544insGTGGTTATAGAGTATATACTGCAGAGTG CCCGCTACCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGC CCGCTGCCACTGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCC CGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCC GCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCG CTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGC TGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCT GCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTG CCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGC CACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCC ACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCA CTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCAC TGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(728): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGTCAGTCTCCCCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAAG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCTCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTGGGA GGGAGGTGGGGGGTCAGCCCCCCGCCCGGCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG02280.hp2 others(5): Show HG01109.hp2 HG01168.hp2 HG02280.hp2 HG02717.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0005 a0001c0009t0005 a0001c0003t0005 a0001c0009t0005	a0001c0003t0005g0281 a0001c0003t0005g0282 a0001c0003t0005g0285 others(5): Show a0001c0003t0005g0281 a0001c0003t0005g0282 a0001c0003t0005g0285 a0001c0003t0005g0286 a0001c0003t0005g0288 a0001c0003t0005g0290 a0001c0003t0005g0291 a0001c0009t0005g0283	8	340	0.0235	735	c.352 others(752): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGCCGGGCGGGGGGCTGACCCCC CACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGATCCTCAC TTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGGGGAGACTGACCCCCCCCCACCTCCCTCCCAGACGGTG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(728): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGTCAGTCTCCCCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAAG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCTGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGA GGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAG GGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCTCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTGGGA GGGAGGTGGGGGGTCAGCCCCCCGCCCGGCGGGAGGTGAGGGGCGCCTCT GCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0292 a0001c0003t0005g0292	1	340	0.0029	735	c.352 others(752): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCAGGCAGAGGCGCCCCTCACCTCCCGCCGGGCGGGGGGCTGACCCCC CACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGATCCTCAC TTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGGGGAGACTGACCCCCCCCCACCTCCCTCCCAGACGGTG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(728): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGGAAGGGAAGGGAGGAAGGGAAGGGAAGGGAAGGGAGGGAAGTGAAA GGGAAGGGAAAGGGAAGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAA GGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAA GGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGCGAAGGGACG GGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGA AGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGCAGGGGAAGGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGAAGGGA AGGAAACGGAAGGGGAAGGGAAGGGGAGGGGAAGTGAAGGGGTAGCAAAG GGAAAGAAAGGAAAGGGAAAAGGGGAAGAGAGGGAGGGAGGGAGGGAGGA AGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAG AGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	242	0.0041	735	c.927 others(752): Show c.927+4528_927+4529insTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCCTTTTCCCTTTCCT TTCTTTCCCTTTGCTACCCCTTCACTTCCCCTCCCCTTCCCTTCCCCTTC CGTTTCCTTCCCTTCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTCCT TTCCCTTACTTTTCCCCTTCCCCTGCCCTTCCCCTTCCCCTTCCCTTCCC CTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCTTCCCCTT CCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTT CCCCTTCCCGTCCCTTCGCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCT TCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCTTCCCTTT CCCTTCCCTTTCACTTCCCTCCCTTCCCTTCCCTTCCCTTCCTCCCTTCC CTTCCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCC TTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(728): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGAAAGGGAAGGGAA GGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAA GGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAAG GGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAAG GGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAG GGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGGA AGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAGGGGAAGGGG AAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGG AAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGA AAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGA AAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGA AGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAG GGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	242	0.0041	735	c.927 others(752): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTC CCTTCCCCTTCCCTTCCCTTTCCTTCCCCTTCCCTTCCCTTCCCTTCCCC TTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(728): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAG GGGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGG AAGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGA AGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGT AAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGG AAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAA AGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGG AAGGAAGGACGGATGGACGGACAGGACGAAAAAAGAGAGGGGAGGGGAAG AGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	242	0.0041	735	c.927 others(752): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTCGTCCTGTCCGTCCATCCGT CCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTTT CTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTCC TTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTCC TTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTTCC CTTCCCCTTCCCTTTCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTTCCC TTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTTCCTTTT CCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTTCCCCTTCCCTTC CCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTC CCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTC CCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCC CTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCC TTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(728): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGG AAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAGGGAGGGGAGGGAAGGGGAAGGGGA AGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAA GGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGA AGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAG AGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	242	0.0041	735	c.927 others(752): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTCCCCTCCCTTCCCTTCCCCTCTCCT TTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCC TTCCCCTTCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCC TTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTC CCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTC CCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTC CCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTC CCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCC CTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCC TTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARSF_chrX_3036471_3117727	3037056	T T	TTATATAT others(728): Show TTATATATAATATTATATATAATATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATATTATATATAAAA TATATATAATATATATTATATATATTATATATAAAATATATATAATATTA TATATAATATTTTATATATATAATATATATATTATATATAATATATATAT AATATATATAATATATATATTATATATAAAATATATATAATATATATATT ATATATAAAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATATTATATATAAAATATATATAATATATATAATATATATAAAAT ATATATAATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATCATATATATAATATATAT ATTATATATAAAATATATATCATATATATAATATATATATTATATATAAA ATATATATCATATATATAATATATATATTATATATAAAATATATATCATA TATATAATATATATATTATATATAAAATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	193	0.0052	735	c.-46 others(746): Show c.-4636_-4635insTATATATAATATTATATATAATATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATATTATAT ATATTATATATAAAATATATATAATATATATTATATATATTATATATAAA ATATATATAATATTATATATAATATTTTATATATATAATATATATATTAT ATATAATATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TAATATATATAAAATATATATAATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATCAT ATATATAATATATATATTATATATAAAATATATATCATATATATAATATA TATATTATATATAAAATATATATCATATATATAATATATATATTATATAT AAAATATATATCATATATATAATATATATATTATATATAAAATATATATC A	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4414		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037056	T T	TTATATAT others(728): Show TTATATATAATATTATATATAATATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATATTATATATAAAA TATATATAATATATATTATATATATTATATATAAAATATATATAATATTA TATATAATATTTTATATATATAATATATATATTATATATAATATATATAT AATATATATAATATATATATTATATATAAAATATATATAATATATATATT ATATATAAAATATATATAATATATATAATATATATATTATATATAAAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATATTATATATAAAATATATATAATATATATAA TATATATATTATATATAAAATATATATAATATATATAATATATATAAAAT ATATATAATATATATAATATATATATTATATATAAAATATATATCATATA TATAATATATATATTATATATAAAATATATATCATATATATAATATATAT ATTATATATAAAATATATATCATATATATAATATATATATTATATATAAA ATATATATCATATATATAATATATATATTATATATAAAATATATATCATA TATATAATATATATATTATATATAAAATATATATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0221 a0001c0002t0002g0221	1	248	0.0040	735	c.36 others(746): Show c.3671_*3672insTATATATAATATTATATATAATATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATATTATAT ATATTATATATAAAATATATATAATATATATTATATATATTATATATAAA ATATATATAATATTATATATAATATTTTATATATATAATATATATATTAT ATATAATATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATATTATATATAAAATATATATAATATATATAATATATAT ATTATATATAAAATATATATAATATATATATTATATATAAAATATATATA ATATATATAATATATATATTATATATAAAATATATATAATATATATATTA TATATAAAATATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATAATATATATATTATATATAAAATATATATAATATATA TAATATATATAAAATATATATAATATATATAATATATATATTATATATAA AATATATATCATATATATAATATATATATTATATATAAAATATATATCAT ATATATAATATATATATTATATATAAAATATATATCATATATATAATATA TATATTATATATAAAATATATATCATATATATAATATATATATTATATAT AAAATATATATCATATATATAATATATATATTATATATAAAATATATATC A	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2946		chrX	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(728): Show CTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTTATTTATTT ATTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCAT CCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTT GGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAAT AAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTG GGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCT AGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTT ACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCC AGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	358	0.0028	735	c.599 others(750): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAATAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAAA AAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(728): Show CTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTTATTTATTT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCAT CCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTT GGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAAT AAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTG GGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCT AGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTT ACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCC AGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	358	0.0028	735	c.599 others(750): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAAA AAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(728): Show CTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTTATTTATTT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCAT CCATGTCCCTACAAAGGACACGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTT GGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAAT AAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTG GGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCT AGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTT ACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCC AGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01358.hp2 others(2): Show HG00280.hp2 HG00639.hp1 HG01358.hp2 HG02300.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0341 a0001c0001t0001g0343 others(2): Show a0001c0001t0001g0322 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345	5	358	0.0140	735	c.599 others(750): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCGTGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAAA AAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
AUH_chr9_91208823_91366918	91296197	C C	CTTTTTTT others(728): Show CTTTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTTATTTATTT TTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCAT CCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTT GGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAAT AAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTG GGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCT AGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTT ACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCC AGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG02015.hp1 others(28): Show HG00438.hp1 HG00597.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02132.hp1 HG02602.hp1 HG03710.hp2 NA18612.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18979.hp1 NA18982.hp1 NA18995.hp1 NA19002.hp1 NA19010.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(28): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057	31	358	0.0866	735	c.599 others(750): Show c.599-121_599-120insTGGCAATCATTAAAAAGTCAGGAAACAACA GGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGG GACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAG GGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAA AAAAAAAAATAAATAAAAAATAAAACCCCCTAAAAAAAAAAAAAAAAAAA AAAAA	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	5/9			chr9	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(728): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGC CTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCCCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	735	c.36 others(746): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAG CCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCTGTCCAG GCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGA C	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(728): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCACCACCACC ACCACCACCATCATCACCATCACCACCAGCACCACCACCATCACCATCAC CATCACCACCATCATCATCACCACCACCACCACCACCACCACCACCACCA TCATCACCATCACCACCAGCACCACCACCATCACCACCACCATCACCACC ACCACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCAT CATCATCACCACCACCACCACCATCACCACCACCACCACCATCAACACCA CCATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	376	0.0027	735	c.63+ others(748): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTG ATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGATGATGGTGGT GATGGTGATGGTGATGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGA TGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGG TGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGG TGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTG ATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGG TGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGG TGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGG TGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTG GTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(728): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCACCACCACCAC CACCACCACCATCATCACCATCACCACCAGCACCACCACCATCACCACCA CCATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACC ACCAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCAC CATCACCACCATCATCATCACCACCACCACCATCACCACCATCAACACCA CCATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	376	0.0027	735	c.63+ others(748): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGATGGTGGTGGTGGTGATGATGATGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGATGATGATGT TGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGATGATGGTGGTGATGGTGATGGTGA TGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGA TGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGG TGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGG TGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTG ATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGG TGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGG TGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGG TGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTG GTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CANT1_chr17_78986716_79014764	79004502	A A	AGTTAGGG others(728): Show AGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGG GAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGGGTTAGGGAGAAGG GAGTTAGGGAAGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAG GGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGGGAGCTGGGGGGGAG TTATGGAGCAAGGAGTTAGGGAGGGGGGAGTTAGGGAGAAGGGAGTTAGG GAGAGGGGAGCTAGGGAGAGGGGGTTAGGGAGGGGGGAGTTAGGGAAGGG GGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAAGGGAGTTA GGGAGAGGGGAGCTAGGGAGAGGGGGGTTAGGGAGGGGGGAGTTAGGGAA GGGGGAGTTAGGGAGGGGAGTTAGGGAGAAGGGAGTTAGGGAGGGGAGTT AGGGAGAGGGGGGTTAGGGAGGGGGGAGTTAGGGAAGGGGGAGTTAGGGA GGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGAGCTAGGGAGAGGGGGTT AGGGAGGGGGGAGTTAGGGAAGGGGGAGTTAGGGAGGGGAGTTAGGGAGA GGGGAGTTAGGGAGAAGGGAGTTAGGGAGAGGGGAGCTAGGGAGAGGGGG GTTAGGGAGGGGGGAGTTAGGGAAGGGGGAGTTAGGGAGGGGAGTTAGGG AGAGGGAGGTTAGGGAGGGGAGTTAGGGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0232 a0001c0002t0020g0232	1	394	0.0025	735	c.-14 others(754): Show c.-147+5161_-147+5162insCCCCCTCTCCCTAACTCCCCTCCCTA ACCTCCCTCTCCCTAACTCCCCTCCCTAACTCCCCCTTCCCTAACTCCCC CCTCCCTAACCCCCCTCTCCCTAGCTCCCCTCTCCCTAACTCCCTTCTCC CTAACTCCCCTCTCCCTAACTCCCCTCCCTAACTCCCCCTTCCCTAACTC CCCCCTCCCTAACCCCCTCTCCCTAGCTCCCCTCCCTAACTCCCCTCTCC CTAACTCCCCTCCCTAACTCCCCCTTCCCTAACTCCCCCCTCCCTAACCC CCCTCTCCCTAACTCCCCTCCCTAACTCCCTTCTCCCTAACTCCCCTCCC TAACTCCCCCTTCCCTAACTCCCCCCTCCCTAACCCCCCTCTCCCTAGCT CCCCTCTCCCTAACTCCCTTCTCCCTAACTCCCCTCTCCCTAACTCCCCT CCCTAACTCCCCCTTCCCTAACTCCCCCCTCCCTAACCCCCTCTCCCTAG CTCCCCTCTCCCTAACTCCCTTCTCCCTAACTCCCCCCTCCCTAACTCCT TGCTCCATAACTCCCCCCCAGCTCCCCTCTCCCTAACTCCCCTCTCCCTA ACTCCCCTCCCTAACTCCCCCCTCCCTAACTCCCCTCTCCCTAACTCCCT TCCCTAACTCCCTTCTCCCTAACCCCCCTCTCCCTAACCCCCCTCTCCCT AACTCCCCTCCCTAACTCCCCCCTCCCTAACTCCCCTCTCCCTAACTCCC CTCCCTAAC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(728): Show TCACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACACTCACATA CAGACACAACCACACCACACACACACACACACACATACAGACACAACCAC ACCACACACACACATACACACTCACATACAGACAACCACACCACACTCAC ACACACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACATACACACTCACATACAGACACAACCACACCACACTCACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACATACACACTCACATACAGA CACAACCACACCACACTCACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACACACACTCACATACAGACACAACCACA CCACACACACACACACATACAGACACAACCACACCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	460	0.0022	735	c.193 others(752): Show c.1938+645_1938+646insCACACTCACATACAGACACAACCACACC ACACTCACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CACACACTCACATACAGACACAACCACACCACACACACACACACACACAT ACAGACACAACCACACCACACACACACATACACACTCACATACAGACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACACTCACATA CAGACACAACCACACCACACACACACACACATACAGACACAACCACACCA CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(728): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCATTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCC CTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02895.hp1 others(2): Show HG02109.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 NA20300.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 others(2): Show a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0013 a0006c0010t0001g0014	5	252	0.0198	735	c.-29 others(746): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAATGAGGGGGAGGGG TGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG G	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(728): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCTCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCC CTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0051 a0002c0006t0002g0051	1	252	0.0040	735	c.-29 others(746): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGAGAGGGG TGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG G	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CDH4_chr20_61247261_61945617	61716380	G G	GCTGGACC others(728): Show GCTGGACCTGTAAAGGGGTGGACGCTCCTCACCTGTGAGCCTCCTCTTGG CTGGACCTGTAAAGGGGTGGACGCTCCTCACCTGTGAGCCTCCTCTTGGC TGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCT GGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTG GACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGG ACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGA CCTGTAAAGGGGTGGACGCTCCTCGCCTGTGGGCCTCCTCTTGGCTGGAC CTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACC TGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCT GTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTG TAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGT AAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTA AAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTAA AGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTAAA GGGGTGGACGCTCCTCGCCTGTGACCCGCCCCTTGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02257.hp1 HG02809.hp1 others(2): Show HG02148.hp2 HG02257.hp1 HG02809.hp1 HG03130.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0012 a0001c0023 others(2): Show a0001c0006 a0001c0012 a0001c0023 a0002c0002 a0002c0004	a0001c0006t0049 a0001c0012t0001 a0001c0023t0044 others(2): Show a0001c0006t0049 a0001c0012t0001 a0001c0023t0044 a0002c0002t0004 a0002c0004t0013	a0001c0006t0049g0071 a0001c0012t0001g0008 a0001c0023t0044g0084 others(2): Show a0001c0006t0049g0071 a0001c0012t0001g0008 a0001c0023t0044g0084 a0002c0002t0004g0070 a0002c0004t0013g0021	5	106	0.0472	735	c.170 others(754): Show c.170-27178_170-27177insCCTGTAAAGGGGTGGACGCTCCTCAC CTGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCACC TGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCT GTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTG TGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGT GAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTG AGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGG GCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAG CCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGC CTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCC TCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCT CCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTC CTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCC TCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCT CTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGACCCGCCCC TTGACTGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar

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Search Results (Total: 8931 hits)