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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(625): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCCGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACC CCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCT GGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0201	1	326	0.0031	632	c.737 others(651): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCT GGGCGGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCA CCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
CPNE7_chr16_89570758_89602246	89588091	G G	GCCCCCGT others(625): Show GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGC GTGTCACCCACAGATACACGGCCCCCCGTGTCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0006 a0001c0013t0002g0006	1	348	0.0029	632	c.928 others(647): Show c.928-570_928-569insGCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGC CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCCCGTGTCAC CC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DDX51_chr12_132131594_132149319	132135097	G G	GCTCCTCC others(625): Show GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCACTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTG CCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC CGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTC CCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCAC TCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCG AGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGT GCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCC CACGGTGCCCACTCCTCCCACCTCTCCGAGTGTGCCCACGGTGCCCACTC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	334	0.0030	632	c.41 others(643): Show c.4174_*4175insTGGGCACCGTGGGCACACTCGGGGAGGTGGGAGG AGTGGGCACCGTGGGCACACTCGGAGAGGTGGGAGGAGTGGGCACCGTGG GCACACTCGGGAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCGGGAGG TGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGTGGGCA CCGTGGGCACACTCGGGGAGGTGGGAGGAGTGGGCACCGTGGGCACACTC GGGAGGTGGGAGGAGGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAG TGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCA CACTCGGGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGG AGGAGCGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGTGGGCACCGG GGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGG TGGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGC ACCGGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCG GGAGGTGGGAGGAGTGGGCACCGGGGCACACTCGGGAGGTGGGAGGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1496		chr12	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(625): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGGTGAGGGTCA CAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAA GGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGTCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0189 a0001c0003t0001g0189	1	345	0.0029	632	c.17 others(643): Show c.1711_*1712insCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGACCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTC TGCCCCTCACCCCGCCTGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCCT TCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTGT GACCCTCACCCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGCC TGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAG CCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCACCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCC TCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(625): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGCCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0188 a0001c0003t0001g0188	1	345	0.0029	632	c.17 others(643): Show c.1711_*1712insCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTC TGCCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGGCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTG TGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGCC TGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAG CCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCACCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCC TCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(625): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0143 a0001c0003t0001g0143	1	345	0.0029	632	c.17 others(643): Show c.1711_*1712insCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGCCCCTCACCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTC TGCCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTG TGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGCC TGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAG CCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCACCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCC TCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(625): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp2 others(33): Show HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01123.hp2 HG01255.hp1 HG01346.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02572.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp1 HG03831.hp2 HG06807.hp1 NA18747.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18982.hp2 NA18994.hp2 NA19005.hp2 NA19009.hp2 NA19065.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0001 a0001c0003t0001 a0001c0014t0001 a0001c0001t0001 a0001c0003t0001 a0001c0014t0001	a0001c0001t0001g0121 a0001c0003t0001g0006 a0001c0003t0001g0032 others(33): Show a0001c0001t0001g0121 a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0153 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0183 a0001c0003t0001g0187 a0001c0003t0001g0190 a0001c0003t0001g0310 a0001c0014t0001g0147	36	345	0.1044	632	c.17 others(643): Show c.1711_*1712insCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTC TGCCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTG TGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGCC TGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAG CCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCACCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCC TCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(625): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0174	1	345	0.0029	632	c.17 others(643): Show c.1711_*1712insCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTC TGCCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTG TGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGCC TGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAG CCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCACCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCC TCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCACCTCC others(625): Show CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCAT CTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCACCAGCATCTTCACCACCACCACCACCTCCACC ACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCAT CTTCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTCC ACCATCACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTC CCCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCA TCACCACCACCACCACCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18986.hp2 HG00408.hp2 NA18986.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0149 a0003c0001t0001g0153 a0003c0001t0001g0149 a0003c0001t0001g0153	2	256	0.0078	632	c.323 others(651): Show c.3234+1214_3234+1215insACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTT CACCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTTCAC CATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCA CCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATC ACCACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCAC CATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DRD4_chr11_632269_645706	642838	C C	CCAGGCGG others(625): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGCCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	421	0.0048	632	c.22 others(643): Show c.2235_*2236insCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGG AAGAGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGT CACAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGCCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGG CGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGG CAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCG GGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGA GGGGCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding		2133		chr11	TogoVar
DRD4_chr11_632269_645706	642838	C C	CCAGGCGG others(625): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(45): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01123.hp1 HG01256.hp1 HG01346.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02572.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG06807.hp1 NA18747.hp2 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA19005.hp2 NA19009.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19079.hp1 NA19083.hp2 NA19087.hp2	a0001 a0003 a0031 others(4): Show a0001 a0003 a0031 a0035 a0036 a0037 a0038	a0001c0001 a0003c0003 a0031c0032 others(4): Show a0001c0001 a0003c0003 a0031c0032 a0035c0023 a0036c0026 a0037c0025 a0038c0024	a0001c0001t0001 a0003c0003t0001 a0003c0003t0004 others(5): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0004 a0031c0032t0001 a0035c0023t0001 a0036c0026t0001 a0037c0025t0001 a0038c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0054 a0003c0003t0004g0001 a0031c0032t0001g0003 a0035c0023t0001g0001 a0036c0026t0001g0001 a0037c0025t0001g0001 a0038c0024t0001g0001	48	421	0.1140	632	c.22 others(643): Show c.2235_*2236insCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGG AAGAGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGT CACAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGG CGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGG CAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCG GGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGA GGGGCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding		2133		chr11	TogoVar
DRD4_chr11_632269_645706	642838	C C	CCAGGCGG others(625): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	421	0.0024	632	c.22 others(643): Show c.2235_*2236insCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGG AAGAGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGT CACAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGG CGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGG CAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCG GGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGA GGGGCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding		2133		chr11	TogoVar
DRD4_chr11_632269_645706	642838	C C	CCAGGCGG others(625): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAG AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGC GGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGTG AGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 NA20905.hp1 HG00544.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0001 a0003c0003t0001g0003	2	421	0.0048	632	c.22 others(643): Show c.2235_*2236insCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGG AAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGT CACAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGG CGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGG CAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCG GGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGA GGGGCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding		2133		chr11	TogoVar
EGFR_chr7_55014017_55216628	55167217	C C	CGGTGGTG others(625): Show CGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGA GGGTGGTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGA TGGTGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAATGGTGGTGGTGTTGAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02257.hp1 others(2): Show HG01884.hp1 HG02145.hp1 HG02257.hp1 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0018 a0001c0001t0066 a0001c0005t0003 a0001c0001t0018 a0001c0001t0066 a0001c0005t0003	a0001c0001t0018g0012 a0001c0001t0018g0013 a0001c0001t0018g0014 others(2): Show a0001c0001t0018g0012 a0001c0001t0018g0013 a0001c0001t0018g0014 a0001c0001t0066g0146 a0001c0005t0003g0009	5	250	0.0200	632	c.188 others(651): Show c.1880+1825_1880+1826insTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAG GTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAG GTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTG GCGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55167217	C C	CGGTGGTG others(625): Show CGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGA TGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGA GGGTGGTGATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGA TGGTGTTACTGGTGGTGACGAGGTGGGAGTCACAATGGTGGTGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGA TGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGA GGAGGTGGGAGTCACAATGGTGGTGGTGTTGAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0045 a0002c0006t0002g0045	1	250	0.0040	632	c.188 others(651): Show c.1880+1825_1880+1826insTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAG GTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAGGAG GTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGACGAG GTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTC ACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTG GCGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTG GCGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTGTTGATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTG GTGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATGT others(625): Show ATGTATGTATATTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTACATACATATAAATATATATTTACATACA TATAAATATATACATTTACATACATATAAATATATACATATATACATATA AATATATACATATATACATATAAATATATATTTATATACATATAAATATA TATATTTATATATATTTATATATATATAAATATATATATATTTGTATATA TATATAAATATATATATATTTATATATATATAAATATATATATATTTATA TATATATACATATAAATATATATTTATATACATATAAATATATAATTATA TACATATAAATATATAATTATATACATATAAATATATATAATTATATACA TATAAATATATATTTATATACATATAAATTTATATACATATAAATATAAA TATTTATATTTATATACATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0006 a0002c0008t0001g0006	1	292	0.0034	632	c.49 others(643): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATTTATATGTATATAAATATATATTTATAT GTATATAATTATATATATTTATATGTATATAATTATATATTTATATGTAT ATAATTATATATTTATATGTATATAAATATATATTTATATGTATATATAT ATAAATATATATATATTTATATATATATAAATATATATATATTTATATAT ATATACAAATATATATATATTTATATATATATAAATATATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTT ATATGTATATATGTATATATTTATATGTATGTAAATGTATATATTTATAT GTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATAT AAATATATATATTTATATGTATATAAATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATAT TTATATGTATATAAATATATATATTTATATGTATATAATATACATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATGT others(625): Show ATGTATGTATATTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATTTATATACATATAAATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATTTACA TACATATAAATATATATTTACATACATATAAATATATACATTTATATACA TATAAATATATACATATATACATATAAATATATATTTATATACATATAAA TATATATATTTATATATATTTATATATATATAAATATATATATATTTGTA TATATATATAAATATATATATATTTATATATATATAAATATATATATATT TATATATATATACATATAAATATATATTTATATACATATAAATATATAAT TATATACATATAAATATATAATTATATACATATAAATATATATAATTATA TACATATAAATATATAATTATATACATATAAATATATATAATTATATACA TATAAATATATATTTATATACATATAAATTTATATACATATAAATATAAA TATTTATATTTATATACATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	292	0.0034	632	c.49 others(643): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATTTATATGTATATAAATATATATTTATAT GTATATAATTATATATATTTATATGTATATAATTATATATTTATATGTAT ATAATTATATATATTTATATGTATATAATTATATATTTATATGTATATAA TTATATATTTATATGTATATAAATATATATTTATATGTATATATATATAA ATATATATATATTTATATATATATAAATATATATATATTTATATATATAT ACAAATATATATATATTTATATATATATAAATATATATAAATATATATAT TTATATGTATATAAATATATATTTATATGTATATATGTATATATTTATAT GTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATGTAT GTAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATAT TTATATGTATATAAATATATATATTTATATGTATATAATATACATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATGT others(625): Show ATGTATGTATATTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATTTATATACATATAAATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATTTACATACA TATAAATATATATTTACATACATATAAATATATACATTTATATACATATA AATATATACATATATACATATAAATATATATTTATATACATATAAATATA TATATTTATATATATTTATATATATATAAATATATATATATTTGTATATA TATATAAATATATATATATTTATATATATATAAATATATATATATTTATA TATATATACATATAAATATATATTTATATACATATAAATATATAATTATA TACATATAAATATATAATTATATACATATAAATATATATAATTATATACA TATAAATATATATTTATATACATATAAATTTATATACATATAAATATAAA TATTTATATTTATATACATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0132 a0001c0004t0002g0132	1	292	0.0034	632	c.49 others(643): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATTTATATGTATATAAATATATATTTATAT GTATATAATTATATATATTTATATGTATATAATTATATATTTATATGTAT ATAATTATATATTTATATGTATATAAATATATATTTATATGTATATATAT ATAAATATATATATATTTATATATATATAAATATATATATATTTATATAT ATATACAAATATATATATATTTATATATATATAAATATATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTT ATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATAT GTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATAT TTATATGTATATAAATATATATATTTATATGTATATAATATACATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
FLT4_chr5_180596506_180654600	180635661	A A	AAGTATGG others(625): Show AAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAT GGAAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGGAAGTATGG GTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGAT GGGTGGGTGGGTGGGTGGATGGATGCATGGATGCATGGAAGTATGGGTGG ATGGGTGGGTGAGTGGGTGGATGGAAGTATGGGTGGATGGGTGGGTGGAT GGGTGGATGGATGCATGTATGGAAGTATGGATGGATGAGTGGATGGGTGG GTGGGTGGATGCATAGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGT GGGTGGATGGATGCATGGATGGAAGTAAGGGTGGATGGGTGGATGGGTGG GTGAGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGAT GGGTGGGTGGGTAGGTGGATGGATGCATGGATTGAATTATGGGTGGATGG GTGGGTGGGTGGGTGGATGGATGGATGCATGGATGGAAGTATGGGTCAAT GGGTGGATGGGTGGGTGGGTGGGGGGATGGATGGATGCATGGATGGAAGT ATGGGTCAATGGGTGGATGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0017 a0008c0025t0017	a0008c0025t0017g0009 a0008c0025t0017g0009	1	388	0.0026	632	c.59- others(647): Show c.59-3884_59-3883insCCCACCCACCCACCCATCCACCCATTGACC CATACTTCCATCCATGCATCCATCCATCCCCCCACCCACCCACCCATCCA CCCATTGACCCATACTTCCATCCATGCATCCATCCATCCACCCACCCACC CACCCATCCACCCATAATTCAATCCATGCATCCATCCACCTACCCACCCA CCCATCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACT CACCCACCCATCCACCCATCCACCCTTACTTCCATCCATGCATCCATCCA CCCACCCACCCACCCATCCACCCATACTTCCATCCATCTATGCATCCACC CACCCACCCATCCACTCATCCATCCATACTTCCATACATGCATCCATCCA CCCATCCACCCACCCATCCACCCATACTTCCATCCACCCACTCACCCACC CATCCACCCATACTTCCATGCATCCATGCATCCATCCACCCACCCACCCA CCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACCCACCCATC CACCCATACTTCCATCCATCCATCCGTCCACCCACCCATCCACCCATACT TCCATCCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCATA CT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXP1_chr3_70949708_71588728	71435779	G G	GGAAGGGA others(625): Show GGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGA AGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGAGGGGACGGAGGGAGGGAGGAA GGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0088 a0001c0001t0019g0088	1	96	0.0104	632	c.-16 others(653): Show c.-168+57646_-168+57647insTTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCGTCCCCTCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCC GTCCCTTC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241807931	T T	TCCCTCCC others(625): Show TCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACTCTCCCTCCCCCC TCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGATGTCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGATGTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC CTCCCTCCCCGCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTC CCTCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACC CAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCTCCCTCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTCTGCAGGCCACTCCCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	314	0.0032	632	c.37 others(643): Show c.3765_*3766insCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCC ACTCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACTCTCCCTCCCCCCT CAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCGCTCAGCCCAGGGATGTCTGCAGGC CACCCTCCCTCCCTCCCTCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCTCCTCAGCCCAG GGACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGATGTC TGCAGGCCACTCCCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3645		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132241343	C C	CCACACCC others(625): Show CCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGACCCTCCCTATACCAATTACACACACAACACACACCC TTCCAGGGGCCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCC AGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCTGGGGCCCTCC CTATACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCAT TACACACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACGCCACACACCCTTACAGGGGCCCTCCCTATACCCATTACACACACG CCACACCCCCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCC TTCCCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACAACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0180 a0001c0012t0002g0180	1	183	0.0055	632	c.107 others(651): Show c.1077+6566_1077+6567insTGTTGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCC CTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGG AAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGG GGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGT GTGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATG GGTATAGGGAGGGCCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGA GGGCCCTGGGAAGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCC CCTGGAAGGGTGTGTGTTGTGTGTGTAATTGGTATAGGGAGGGTCCCGGG AAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGG GGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPIHBP1_chr8_143208218_143222170	143218244	C C	CAACACCA others(625): Show CAACACCACCCCCAACACCATCCCAACACCACCCCAACACCACCCCCAAC ACCACCCCCAACACCATCCCCAACACCACCCCCAACACCATCCCCAACAC CCCAATAACCCCCCAACACCACCACCAACACCACCACAACACCACCCCAA CACCATCCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCC CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCC AACACCACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCA CCACCAACACCACCACAACACCATCCCCAACACCACCCCCAACACCATCC CCAACACCCCAATAACCCCCCAACACCACCACCAACACCACCACAACACC ATCCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCACCCC AACACCACCCCCAACACCACCCCCACACCGCCCCCACACCAGCCCCAACA CCACCCCCAACACCACCCCCACACCACCCCAATACCTCCCCAACACCACC CCCAACACCACCCCCACACCACCCCCAATACCACCCCCACACCACCCCCA TCGCCCCCAACACCATCCCCAACACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0005 a0001c0001t0020g0005	1	106	0.0094	632	c.27 others(643): Show c.2726_*2727insAACACCACCCCCAACACCATCCCAACACCACCCC AACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAA CACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAACACCACC ACAACACCACCCCAACACCATCCCCAACACCACCCCCAACACCATCCCCA ACACCCCAATAACCCCCCAACACCACCCCCAACACCACCCCAACACCACC CCCAACACCATCCCCAACACCACCCCCAACACCATCCCCAACACCCCAAT AACCCCCCAACACCACCACCAACACCACCACAACACCATCCCCAACACCA CCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAA CACCACCACAACACCATCCCCAACACCACCCCCAATACCACCCCCACCAC CCCCAACACCACCCCAACACCACCCCCAACACCACCCCCACACCGCCCCC ACACCAGCCCCAACACCACCCCCAACACCACCCCCACACCACCCCAATAC CTCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAATACCACC CCCACACCACCCCCATCGCCCCCAACACCATCCCCAACACCACCCCCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1075		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(625): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATAAATATATATATAAATATATATATTTATATATATAAA TATATATATTTATATATAAATATATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTA TATATATTTATATTTATATATATATATATAAATATATATTTATGTATATT TATATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	208	0.0048	632	c.-97 others(649): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATAAATATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATAAATATATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATATTTATATTTACAAATATATATATTTATATATATATTT ATATTTATATATATTTATATTTATATATATATATATAAATATATATTTAT GTATATTTATATATAAATATAAATATATATTTATATATAAATATAAATAT ATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(625): Show TATATATTTATATATATTTATATTTATTTATAAATAAATATATATAAATA TATATTTATATTTATTTATAAATAAATATATATAAATATATATAAATATA TATTTATAAATAAATATATATAAATATATATAAATATATATTTATATTTA TTTATAAATAAATATAAATATATATTTATATTTATTTATAAATAAATATA AATATATATTTATATTTATTTATATATAAATATAAATATATATTTATAGT TATTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATA TATTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATA AATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGATT TATATATATTTATATATAAATAACTATATAGATTTATATATATTTATATA TAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0065 a0001c0001t0013g0065	1	208	0.0048	632	c.-97 others(649): Show c.-97-2095_-97-2094insTTTATATATATTTATATTTATTTATAAA TAAATATATATAAATATATATTTATATTTATTTATAAATAAATATATATA AATATATATAAATATATATTTATAAATAAATATATATAAATATATATAAA TATATATTTATATTTATTTATAAATAAATATAAATATATATTTATATTTA TTTATAAATAAATATAAATATATATTTATATTTATTTATATATAAATATA AATATATATTTATAGTTATTTATATATAAATATATAAATCTATATATATA AATATAGATTTATATATATTTATATATAAATAACTATAAATATAGATTTA TATATATTTATATATAAATAACTATATAGATTTATATATATTTATATATA AATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGATT TATATATATTTATATATAAATAACTATATAGATTTATATATATTTATATA TAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATTTATAAATAACTATAAA TATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(625): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGATGA GTAGATGAATGGATGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGAT GGATGGATGTGTGGGTGGGTGGAGGGAAGGATGGATGGATGGATAAATGG ATGGATAGGTGGATGGGTGGATGGAGGGATGGATGGATGGATAGGTAAAT GGGTAGGTGGGTGGGCGGAGGGATGGATGGATGGATGGATGGATGGATGG ATAGGTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATGGATA GGTGGATGAATGGATGAATAGATGGATGGATGA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18995.hp2 NA18982.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0040 a0001c0001t0001g0065	2	310	0.0065	632	c.199 others(649): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGG TAGATGGGTGGGTGGATGGATGGATGGATGTGTGGGTGGGTGGAGGGAAG GATGGATGGATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGA TGGATGGATGGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATG GATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGCGGAG GGATGGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGGATGG ATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(625): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGATGA GTAGATGAATGGATGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGAT GGATGTGTGGGTGGGTGGAGGGAAGGATGGATGGATGGATAAATGGATGG ATAGGTGGATGGGTGGATGGAGGGATGGATGGATGGATAGGTAAATGGGT AGGTGGGTGGGCGGAGGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGGTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATGGATA GGTGGATGAATGGATGAATAGATGGATGGATGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0201 a0001c0001t0007g0198 a0001c0001t0002g0201 a0001c0001t0007g0198	2	310	0.0065	632	c.199 others(649): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGG TAGATGGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATG GATGGATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGA TGGATGGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATG GATGGATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGCGGAG GGATGGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGGATGG ATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
KHSRP_chr19_6408102_6429811	6429379	A A	AGGGAGGT others(625): Show AGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGGAGA AGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAGA AAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGAA AGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGGG ACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGAA GGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGAG GAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAG GGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGGG AGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGG GAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTC CGGGAGGAGGGAGAAGGAGGAGGGAGGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	386	0.0026	632	c.-46 others(643): Show c.-4679_-4678insCCTCCTCCTCCCTCCTCCTTCTCCCTCCTCCCGG ACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCC CCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCC CTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTC TCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCC TCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCC TCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCT TCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTC CCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTT TCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTT CTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTT CTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4569		chr19	TogoVar
KIF16B_chr20_16267104_16578448	16288800	C C	CACAGTAT others(625): Show CACAGTATGTACTGGTGATAAGGTTATTGGGATCCCATCATAAGTGGAAG AGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACTGATGATAA GGTTATTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGGTATGTACC TTAGTAAACACAGTATGTACTGGTGATAAGGTTACTGGGATCCCATCATA AGTGGAACAGCATCTGTATGGTATGTACCTTAGTAAACACAGTATGTACT GGTGATAAGGTTACTGGGATCCCATCATAAGTGGAAGAGCATCTGTATGG TATGTACCTTAGTAAACACAGTATGTACTGATGATAAGGTTATTGGGATC CCATCATAAGTGGAAGAGCATCTGTATGGTATGTACCTTAGTAAACACAG TATGTACTGGCGATGGGTTTATTGGGATCCCATCATAAGTGGAAGAGCAT CTGTATGGTATGTACCTCAGTAAGTACAGTATGTACTGGTGATAAGGTTA TTGGGATCCCATCATAAGTGGAAGAGCATCTGTATAGTATGTACCTTAGT AAACACAGTATGTACTGGCGATGGGTTTATTGGGATCCCATCATAAGTGG AAGAGCATCTGTATGGTATGTACCTCAGTAAGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02135.hp1 HG02257.hp1 others(6): Show HG02080.hp1 HG02135.hp1 HG02257.hp1 HG02486.hp2 HG02896.hp2 HG02897.hp2 HG03209.hp2 NA19066.hp1 NA19083.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0009 a0001c0005 a0005c0009	a0001c0005t0006 a0005c0009t0002 a0005c0009t0006 others(2): Show a0001c0005t0006 a0005c0009t0002 a0005c0009t0006 a0005c0009t0012 a0005c0009t0014	a0001c0005t0006g0064 a0001c0005t0006g0068 a0001c0005t0006g0171 others(6): Show a0001c0005t0006g0064 a0001c0005t0006g0068 a0001c0005t0006g0171 a0001c0005t0006g0175 a0001c0005t0006g0176 a0005c0009t0002g0056 a0005c0009t0006g0023 a0005c0009t0012g0229 a0005c0009t0014g0001	9	250	0.0360	632	c.379 others(653): Show c.3796-15390_3796-15389insACTTACTGAGGTACATACCATACA GATGCTCTTCCACTTATGATGGGATCCCAATAAACCCATCGCCAGTACAT ACTGTGTTTACTAAGGTACATACTATACAGATGCTCTTCCACTTATGATG GGATCCCAATAACCTTATCACCAGTACATACTGTACTTACTGAGGTACAT ACCATACAGATGCTCTTCCACTTATGATGGGATCCCAATAAACCCATCGC CAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGCTCTTCCAC TTATGATGGGATCCCAATAACCTTATCATCAGTACATACTGTGTTTACTA AGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATCCCAGTAAC CTTATCACCAGTACATACTGTGTTTACTAAGGTACATACCATACAGATGC TGTTCCACTTATGATGGGATCCCAGTAACCTTATCACCAGTACATACTGT GTTTACTAAGGTACATACCATACAGATGCTCTTCCACTTATGATGGGATC CCAATAACCTTATCATCAGTACATACTGTGTTTACTAAGGTACATACCAT ACAGATGCTCTTCCACTTATGATGGGATCCCAATAACCTTATCACCAGTA CATACTGT	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	25/25			chr20	TogoVar
KRT82_chr12_52388931_52411335	52409030	C C	CTCCCTCT others(625): Show CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCTCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCCTCTCCCCTCTCCCCTCCTCTCCCCTCTCCCTCCTCTCCCTC TCCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CCTCCCTCTCCCTCCTCTCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCCTCTCCCTCCCTCTCCTCCTCTCCCT CTCTCCCTCCTCTCCCTCTTCCCTCACTCTCCCTCTCCCTCCTCTCCCTC CCTCTCCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCCTCCTCTCCCTC TCCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCTCCCTCCTCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCTCCCTCCTCTCCCTC CTCTCCCTCACTCCTCTCCCTCTCCCTCACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	632	c.-27 others(643): Show c.-2754_-2753insAGAGTGAGGGAGAGGGAGAGGAGTGAGGGAGAGG AGGGAGAGGAGGGAGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGAGGAGGGAGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGGAG AGGGAGAGGAGGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGGAGAGGG AGGGAGAGGAGGGAGAGGGAGAGTGAGGGAAGAGGGAGAGGAGGGAGAGA GGGAGAGGAGGAGAGGGAGGGAGAGGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGAGAGGAGGGAGAGGGAGGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGGAG AGGGAGAGGAGGGAGAGGGGAGAGGAGGGGAGAGGGGAGAGGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGAGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2696		chr12	TogoVar
LARS1_chr5_146108034_146187650	146174473	T T	TATATCCA others(625): Show TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATCCATATATATATATCCATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATA TCCATATATATATATCCATATATATGGATATATATATATCCATATATATC TATCCATATATATATCCATATATATCTATCCATATATATATCCATATATC TATCCATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0245 a0002c0002t0002g0245	1	284	0.0035	632	c.126 others(649): Show c.126-1700_126-1699insGGATATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT GGATAGATATATGGATATATATATGGATAGATATATATGGATATATATAT GGATAGATATATATGGATATATATATATCCATATATATGGATATATATAT ATGGATATATATATGGATATATATATATGGATATATATATGGATATATAT ATATGGATATATATATGGATATATATATGGATATATATATATGGATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATATGG ATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124471482	T T	TTATATAT others(625): Show TTATATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATA TATATTACATATATTTTTATATTTATATATTTATATATTTTATATATTTA TATATTTTTTATATATTTATATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATG TATTTATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATATTTATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATATTATTTATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0162 a0006c0005t0001g0162	1	260	0.0039	632	c.125 others(649): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTATATATTTATAT ATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATATAT TTATATATATTTATGTATATTTATATATATATTTATATATATTTATGTAT ATTTATATATATATTTATATATATTTATGTATATTTATATATATTTATAT ATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTATAT ATATTTATATGTATTTATATATATATTTATATGTATTTATATATTTATAT ATTTATATGTATTTATACATATATATTTATATGTATTTATATATATTTAT ATATATTTTTTATGTATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATTTATATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATATTTATATATATTTATATA TATTTATATATATATTTATATATATATTTATATATATATTATTTATATAT ATAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	858988	C C	CAGTGGTG others(625): Show CAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACG GGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGT GAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGT GGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGT GTCACGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGATGTC ACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	294	0.0034	632	c.153 others(651): Show c.1530-4283_1530-4282insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCC GTCCCGTGACATCACTGCACACCCGTCCCGTGACACCACTCACACCCATC CCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACGCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTC CCCTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCCTCCCGAGAC ACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(625): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATAATACATTTAATATAATTATATTA TAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATATAAT ATATTATATATAATTATATTATAACTTATTATATATAATTATATTATAGA TCATAATCTATAATATAATTATATATAATATGTTATAATATATAATTATA TTCTATATATAATTATATATAATATAATTATATTCTATATATAATATAAT TATATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	632	c.-32 others(643): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATATAA TTATATTATATATAGAATATAATTATATTATATATAATTATATATAGAAT ATAATTATATATTATAACATATTATATATAATTATATTATAGATTATGAT CTATAATATAATTATATATAATAAGTTATAATATAATTATATATAATATA TTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAAATGTATTATAATATATAATATAATTATATATTAT ATAATATATAATATAATTATATATTATATAATATATAATATAATTATATA TTATATAATATATAATATAATTATAGATTATATAATATATAATATAATTA TAGATTATATAATATATAATATAATTATAGATTATATAATATATAATATA ATTATATATTATATAATATATAATATAATTATATATTATATAATATGTTT AATATAATTATATATAATATAATTATATTATATATTATATTATAATTATA TAATATATAATATAATTATATATTATATAATTATATTCTATATAGAATAT AATTATATATTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(625): Show AATATATAAATTATATATAATATATAATATAATTATATAATATATAATTA TATTCTATATAGAATATAATTATATAATATATAATTATATTATATATTAT ATAATTATAATATAATATATAATATAATTATATTATATATAATTATATTA AACATATTATATAATATATAATTATATTATATATTATATAATATATAATT ATATTATATATTATATAATCTATAATTATATTATATATTATATAATCTAT AATTATATTATATATTATATAATCTATAATTATATTATATATTATATAAT CTATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATAATACATTTAATATAATTATATTA TAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATATAAT ATATTATATATAATTATATTATAACTTATTATATATAATTATATTATAGA TCATAATCTATAATATAATTATATATAATATGTTATAATATATAATTATA TTCTATATATAATTATATATAATATAATTATATTCTATATATAATATAAT TATATATAATTATATTCTATATAGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	288	0.0035	632	c.-32 others(643): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATATAA TTATATTATATATAGAATATAATTATATTATATATAATTATATATAGAAT ATAATTATATATTATAACATATTATATATAATTATATTATAGATTATGAT CTATAATATAATTATATATAATAAGTTATAATATAATTATATATAATATA TTATATATTATAATACTATTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAAATGTATTATAATATATAATATAATTATATATTAT ATAATATATAATATAATTATATATTATATAATATATAATATAATTATAGA TTATATAATATATAATATAATTATAGATTATATAATATATAATATAATTA TAGATTATATAATATATAATATAATTATAGATTATATAATATATAATATA ATTATATATTATATAATATATAATATAATTATATATTATATAATATGTTT AATATAATTATATATAATATAATTATATTATATATTATATTATAATTATA TAATATATAATATAATTATATATTATATAATTATATTCTATATAGAATAT AATTATATATTATATAATTATATTATATATTATATATAATTTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MICALL2_chr7_1429359_1464470	1446334	A A	AGAGGGAG others(625): Show AGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAA GGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGG GGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGG AGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGA GGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGG AGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGA GTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGG GAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGG AGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGA AGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAA AGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAG GGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGG AGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	280	0.0036	632	c.641 others(647): Show c.641+378_641+379insCTCCCCCCTCCTCTCCCTCCTCCCCCCTCC TCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCC CCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCC CCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCC TCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCT CCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCT CTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCT CACTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCG CCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACT GCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCC TC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(625): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCAGGGGGAAGGGGGAAAGGG GTGGGGGGAAAGGGGGAAGGGGAAAGGGGTGAGGGGAAAGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAG GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGGGGAAGGGAGGGGGGAGGGGAGGGGGAGGGAAG AGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGGGAGGGAAG GGAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGGGAGGGG AGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGA GGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGG GAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	272	0.0037	632	c.250 others(647): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCC CCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCC CCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCC CCTCTTCCCTCCCCCTCCCCTCCCCCCTCCCTTCCCCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCT TTCCCCCTTCCCCCTTTCCCCTCACCCCTTTCCCCTTCCCCCTTTCCCCC CACCCCTTTCCCCCTTCCCCCTGCCCCTTTTCCCCCCTTCCCCGCCCCTT TTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCC TCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC CT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MTERF3_chr8_96234402_96266610	96250652	A A	AGAAGAAG others(625): Show AGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAGA GGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAG AAGAGGAAGAGGAAGAAGAAGAGGAAGAGGAAGAAGAAGAGGAAGAGGAA GAGGAAGAAGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAG AAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAA GAGGAAGAGGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGA GGAAGAGGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAG AAGAGGAAGAGGAAGAAGAAGAAGAAGAGGAAGAAGAGGAAGAAGAAGAA GAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	294	0.0034	632	c.677 others(647): Show c.677+253_677+254insCTCTTCTTCTTCTTCTTCCTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTTCTTCCTCTTCTTCTTCTTCTTCCTCTTCCT CTTCTTCTTCCTCTTCTTCCTCTTCTTCCTCTTCCTCTTCTTCTTCCTCT TCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCTTCCTCTTC CTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTT CTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCTTCTTC CTCTTCCTCTTCCTCTTCTTCTTCCTCTTCCTCTTCTTCTTCCTCTTCCT CTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCT TCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCTTCCTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCT TC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(625): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18961.hp1 NA18970.hp1 others(7): Show HG00408.hp2 NA18961.hp1 NA18970.hp1 NA18978.hp2 NA18990.hp1 NA18991.hp1 NA19010.hp1 NA19057.hp2 NA19058.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0213 a0001c0001t0001g0215 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0258	10	364	0.0275	632	c.394 others(647): Show c.394-573_394-572insGTTCATATATATTCATATATATGTTCATAT ATATATTCATATATATGTTCATATATATTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT AT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(625): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18949.hp2 NA18944.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0223 a0001c0001t0001g0100 a0001c0001t0001g0223	2	364	0.0055	632	c.394 others(647): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(625): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATGCATATATATATGTTCATATATATATGCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	364	0.0028	632	c.394 others(647): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATGCATATATATATGTTCATATATATATGCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(625): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18973.hp1 NA19086.hp1 NA18951.hp1 NA18973.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0101 a0001c0001t0001g0226 a0001c0001t0001g0239	3	364	0.0082	632	c.394 others(647): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(625): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTA TATAAATATACATATTTCAATATAAGTATGTATATAAATATACATATTTC AATATAAGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATA TATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTC AATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAA AATATATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATA TAAGTATGTATAAAAATATATATATTTAAATATAAGTATATATAAAAATA TATATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0072 a0005c0005t0002g0072	1	326	0.0031	632	c.358 others(649): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCA ATATAAGTATGTATATAAATATACATATTTCAATATAAGTATGTATATAA ATATACATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAA GTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTAT GTATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAA ATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATAT AAGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATAT ATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGT ATATATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATAT ATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(625): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGTGGT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAGTAG TGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGG TGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	384	0.0026	632	c.160 others(649): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACCACCATCACCACCACCACCACTA CTACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCAC CACCATCACCACCACCACCATCACCACCACCACCACTACCACCACCACCA CCACCACCACCACCATCACCACCACCATCGCCGCCACCACCACCACCACC ACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCACCAC CACCACTACTGCCACCGCCGCCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCGCCGCCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCGCCACCACCACCACCACCATCACCACCACCAC CACTACTGCCACCGCCGCCACCACCACCATCACCACCACCACCATCACCA CCACCACCATCGCCGCCACCACCACCACCACCATCACCACCACCACCACC ACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NLRP8_chr19_55942832_55993629	55993533	C C	CCCTCCCC others(625): Show CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0000 a0000	a0000c0020 a0000c0020	a0000c0020t0017 a0000c0020t0017	a0000c0020t0017g0191 a0000c0020t0017g0191	1	350	0.0029	632	c.56 others(643): Show c.5620_*5621insCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4905		chr19	TogoVar
NTM_chr11_131365615_132341822	131681129	C C	CTGTGTCT others(625): Show CTGTGTCTGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTCTGTATGT CTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCC CTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGT GTATGTGAGCTTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGA GCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGT GTTTCTGTGTCTGTATGTCTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGT CTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGT ATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCC CTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTTTGTGT GAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGC GTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTTT CTGTGTCTGTATGTCTCCCTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGT GTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	86	0.0116	632	c.83- others(651): Show c.83-230430_83-230429insCTGTCTCCCTGTGTGTGTGAGCATGT GTGTTTCTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGT GTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCT GTGTGTATATCTCCCTGTGTATGTGAGCTTGTTTCTGTGTCTGTGTGTAT GTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCT GTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGA GCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGT GTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTT CTGTGTCTGTATGTCTCCCTGTGTGTGAGCATGTGTGTTTCTGTGTCTGT ATGTCTCCCTGTTTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGT CTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGT GTGTGTGAGCGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGAGCGTGT GTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGT TTGTGT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(625): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCG CCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGC CCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01515.hp1 HG01106.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0003g0100 a0001c0001t0001g0025 a0001c0001t0003g0100	2	155	0.0129	632	c.155 others(651): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(625): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	155	0.0065	632	c.155 others(651): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(625): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	155	0.0065	632	c.155 others(651): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC TGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACC CCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA CCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(625): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAG GAGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAG ACGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAA AGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAGACGGGAGAAGG AGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAG ACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAA AGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGAGGGG GAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGGAA GACGGGAGGAGGAGGAGAGGAAAGGGGGAAGACGGGAGGAGGAGGACAGG AAAGAGGGGGAAGATGGGAGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02451.hp2 others(3): Show HG01884.hp2 HG02258.hp2 HG02451.hp2 HG02886.hp2 HG03540.hp2 NA19030.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0007 a0006c0029 a0010c0024 a0001c0007 a0006c0029 a0010c0024	a0001c0007t0005 a0006c0029t0005 a0010c0024t0005 a0001c0007t0005 a0006c0029t0005 a0010c0024t0005	a0001c0007t0005g0008 a0001c0007t0005g0042 a0001c0007t0005g0280 others(3): Show a0001c0007t0005g0008 a0001c0007t0005g0042 a0001c0007t0005g0280 a0001c0007t0005g0281 a0006c0029t0005g0170 a0010c0024t0005g0164	6	326	0.0184	632	c.162 others(651): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCT TTCCTCTCCTTCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTT CTCCCGTCTTCCCCCTCTTTCCTCTCCTCCTCCCGTCTTCCCCCCTTTCC TCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTC CCCCTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCTTTCCACTCCTCCTC CCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCCTCTT CTCCTCCTCCCATCTTCCCCCTCCTTCCTCTCCTCCCCTTCCCATCTTCC CCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)