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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⚠️ 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
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(630): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCTCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCT CCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTC CTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG04115.hp1 HG01099.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0210 a0001c0001t0008g0211 a0001c0001t0006g0210 a0001c0001t0008g0211	2	384	0.0052	637	c.424 others(654): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCTCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCC TCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(630): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCTTCTTCCTCCTCC CCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCTGCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCCTCC TCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCTCCT CTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCTCCT GCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTCCTC CTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTCTCT TTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTT CTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCT CCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCC TCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCT CCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTC CTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0308 a0001c0001t0006g0308	1	384	0.0026	637	c.424 others(654): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCTTC TTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCT CTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCT TTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCC TCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCC TCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCT TCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCT CCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCC TCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCT CCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCC TTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCT CCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCC TCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930923	C C	CGGGGTTA others(630): Show CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAGGGGTTA GGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGGTTAGGGAG ACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCT GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGG TTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAG GGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAAGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	466	0.0022	637	c.46 others(648): Show c.4667_*4668insAGCCTCCTTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACC CCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC TTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTGACCCT TGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCC TCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4446		chr11	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(630): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0123 a0001c0001t0009g0123	1	250	0.0040	637	c.82+ others(652): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGT TTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(630): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAG TTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA ATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0163 a0001c0001t0036g0163	1	250	0.0040	637	c.82+ others(652): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAT ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGT TTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
USP13_chr3_179648040_179794401	179727828	C C	CGGCTGGC others(630): Show CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGAGCGGGGTGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGAGCGGGGTGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCTGGGCAGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGAGCGGGGT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	300	0.0033	637	c.108 others(656): Show c.1089-2275_1089-2274insGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGAGCGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGAGCGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCTGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGAGCGGGGTGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
VEGFB_chr11_64229584_64244264	64237092	A A	AGGGAGAG others(630): Show AGGGAGAGGCAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	328	0.0031	637	c.375 others(650): Show c.375-94_375-93insGGAGAGGCAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGG	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(630): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATATTATATATTATAAATAATATATTAT ATATATTATATATTATAAATAATATATTATATATTATATTATATATTATA AATAATATATTATATATTTATTATATATTATAAATAATATATTATATATT ATATTATATATTATAAATAATATATTATATATTATATTATAAATAATATA TTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0240 a0001c0001t0033g0240	1	302	0.0033	637	c.-1- others(654): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATATTATATATT ATAAATAATATATTATATATATTATATATTATAAATAATATATTATATAT TATATTATATATTATAAATAATATATTATATATTTATTATATATTATAAA TAATATATTATATATTATATTATATATTATAAATAATATATTATATATTA TATTATAAATAATATATTATATATTATAAATAATATATTATATATAATAT GTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(630): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATTATATATTATAAATAATATATTATATATATTATA TATTATAAATAATATATTATATATTATATTATATATTATAAATAATATAT TATATATTATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATGTTATATATTATAAATAATATATT ATATATTATATTATAAATAATATATTATATATTATATTATAAATAATATA TTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	302	0.0033	637	c.-1- others(654): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATTATATATTATAAATAATA TATTATATATATTATATATTATAAATAATATATTATATATTATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATGTTATATA TTATAAATAATATATTATATATTATATTATAAATAATATATTATATATTA TATTATAAATAATATATTATATATTATAAATAATATATTATATATAATAT GTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF627_chr19_11592483_11624161	11613138	C C	CTCTCACT others(630): Show CTCTCACTCCCCTTCCCCCTCCCCTTCCTCTCACTCCCCCTCCCGCTCCT CCCTTCTTCCCTCCTCCTCCTCCCCCCTTCCGCCGTCCCCCTTCCTTCTC CATCCCCTCCCCTCCCCCTCCCTTCCTCCTCCCCTCCCTCTCCCCTCCCT CCACCTTCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCTCCCCCCTCCCTT CCCCTTCCCTCCTCCCTCCCTCTCCCCCTTCCTCTCCTCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCTCCCCTTCCCTCCTCCCTCCCCTCC CCCTCCCTCCCCTACCCTCCTCCTCCCCCTTCCCGTCCTCCCTCCCCCTC CCCCCCCTCTCCTCCCCTCCCCTCTCCCCTCCCCCGCCCCTCCCCTCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCTACCCCTCTCCTCC CTCCCCTCCCCTCTCCTCCCCTCCCCTTCCCTCCTCCCTCCTCCCCTCCC CTTCCTCCCTCCCCTCTCCCCTCCCTCCTCTCCCACTCCTCCCTCCCCTC CCCATCTTCCTCCCTCCCCATCTCCCTCCCCTCTACTCCCGTCCCTTCCT CCCCTCCTCCCCTCACCTGTCCCTCCCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	322	0.0031	637	c.4-1 others(650): Show c.4-1389_4-1388insTCTCACTCCCCTTCCCCCTCCCCTTCCTCTCA CTCCCCCTCCCGCTCCTCCCTTCTTCCCTCCTCCTCCTCCCCCCTTCCGC CGTCCCCCTTCCTTCTCCATCCCCTCCCCTCCCCCTCCCTTCCTCCTCCC CTCCCTCTCCCCTCCCTCCACCTTCCTCCTCCTCCCTCCCCCTCCCTCCC CCTCTCCCCCCTCCCTTCCCCTTCCCTCCTCCCTCCCTCTCCCCCTTCCT CTCCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCTCCCCTTC CCTCCTCCCTCCCCTCCCCCTCCCTCCCCTACCCTCCTCCTCCCCCTTCC CGTCCTCCCTCCCCCTCCCCCCCCTCTCCTCCCCTCCCCTCTCCCCTCCC CCGCCCCTCCCCTCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCT CCCTACCCCTCTCCTCCCTCCCCTCCCCTCTCCTCCCCTCCCCTTCCCTC CTCCCTCCTCCCCTCCCCTTCCTCCCTCCCCTCTCCCCTCCCTCCTCTCC CACTCCTCCCTCCCCTCCCCATCTTCCTCCCTCCCCATCTCCCTCCCCTC TACTCCCGTCCCTTCCTCCCCTCCTCCCCTCACCTGTCCCTCCCCCTCTC CCCTT	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3			chr19	TogoVar
ABR_chr17_998519_1184981	1065035	G G	GCATGTTC others(631): Show GCATGTTCCTCTAGATGCTGTTGTTATGTGAACTGAGGGCTATGCATGTT CCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAG ACACTGTTATGTGAACTGAGGGCTATGCATGTTGCTCTAGACACTGTTGT TACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTATGTGA ACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGG GCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTGAGGGCTATGC ATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCC TCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGCA CTGCTGTTACGTGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGT TATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGA ACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTT ATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATG TTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18999.hp2 NA19066.hp1 NA18940.hp1 NA18999.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0088 a0001c0001t0004g0290 a0001c0001t0005g0291 a0001c0001t0002g0088 a0001c0001t0004g0290 a0001c0001t0005g0291	3	337	0.0089	638	c.118 others(657): Show c.1182+2041_1182+2042insTATAGCCCTCAGTTCACGTAACAACA GTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTA GAGGAACATGCATAACCCTCAGTTCACATAACAGTGTCTAGAGGAACATG CATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCC CTCAGTTCACATAACAACAGTGTCTGGAGGAACATGCATAGCCCTCAGTT CACGTAACAGCAGTGCTAGAGGAACATGCATAGCCCTCAGTTCACGTAAC AACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTG TCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTGGAG GAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATG CATAGCCCTCAGTTCACATAACAGCAGCGTCTAGAGGAACATGCATAGCC CTCAGTTCACGTAACAACAGTGTCTAGAGCAACATGCATAGCCCTCAGTT CACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAA CAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCATC TAGAGGAACATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCGTGTCT others(631): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCATTCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CATTCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	295	0.0034	638	c.34 others(649): Show c.3435_*3436insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CTCGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG GAATGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGAATGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGGAATGGAGCAGAGACACGGGGAATGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGAC GGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGA CACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(631): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGG GAGGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGG AGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	352	0.0028	638	c.51 others(649): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCT CCCTCCTCCCCCGTCCCCTCCTCCCCGCCCTCCCCTCCTCCCCCCTCCCC CTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCT TCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTCCCCTCCTCCC CCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCCCTCC CCTCCTCCCCCGTCCCCTCCTCCCCGCCCTCCCCTCCTCCCCCCTCCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCTC CCCTCCTCCCCCTCCCCCTTCCCTCCTCCCCCTCCCCTCCTCCCCCTCCC CTCCTCCTTCCCTCCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCT CTCCCCCCTCCCCTCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCC CTCCTCCCCCCTCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTC CCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCC TCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTT CCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRB3_chr6_68630282_69394506	69100947	A A	AAGGAGAG others(631): Show AAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAA GGAAGGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAGG GAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGGAGTGAGGGAGGGAGGA AAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGAA GGAAGAAGGAAGGGAGGGAAGGAAGGAAGGAAGAAGCGAGGGAGGGAAGG AAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAGAGAGGGAAGAAG GCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGG AAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAG TGAAGGAAGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAG GAAGGAAGAAGGGAGGGAGGGAAGGAAGGAAGGAGGAAGGGAAGGAAGAA AGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAG GAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAAGGGAGGAAGGA AGGAAGAAGGGAGCGAGGGAGGGAGGGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	120	0.0083	638	c.248 others(659): Show c.2480+24910_2480+24911insGGAGAGAGGGAAGAAGGCAGGGAG GGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAGGGAAGGAAGGAAGGAAGAAGGAAGGGAGGGAAGGAAGG AAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGGGAAGGAA GGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGG AAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAA GGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAGGCAGGGAGTGAGG GAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGAAGGGAGGGAGGGAAGGA AGGAAGGAGGAAGGGAAGGAAGAAAGGAAGGAGGAAGGGAAGGAAGGAGG AAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAA GGGAAGGAAGGAAGGGAGGAAGGAAGGAAGAAGGGAGCGAGGGAGGGAGG GAAGGAAGGAGGGA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69100947	A A	AGAGAGGG others(631): Show AGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAA GGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAGGGAAG GAAGGAAGGAGGGAGTGAAGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGG AAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGAAGGAA GGAAGAAGGAAGGGAGGGAAGGAAGGAAGGAAGAAGCGAGGGAGGGAAGG AAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAGAGAGGGAAGAAG GCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGG AAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAG TGAAGGAAGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAG GAAGGAAGAAGGGAGGGAGGGAAGGAAGGAAGGAGGAAGGGAAGGAAGAA AGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAG GAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAAGGGAGGAAGGA AGGAAGAAGGGAGCGAGGGAGGGAGGGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0029	1	120	0.0083	638	c.248 others(659): Show c.2480+24909_2480+24910insGAGAGGGAAGAAGGCAGGGAGGGA AGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGGAG GGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGG CAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAA GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGAAGGGAGGGAAGGAAG GAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGGGAAGGA AGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAG GAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGA AGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAGGCAGGGAGTGAG GGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGAAGGGAGGGAGGGAAGG AAGGAAGGAGGAAGGGAAGGAAGAAAGGAAGGAGGAAGGGAAGGAAGGAG GAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGA AGGGAAGGAAGGAAGGGAGGAAGGAAGGAAGAAGGGAGCGAGGGAGGGAG GGAAGGAAGGAGGG	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31			chr6	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(631): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCAC CCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCC ACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCA CTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01952.hp2 HG01257.hp1 HG01258.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0224 a0002c0002t0003g0152 a0002c0002t0003g0153 a0002c0002t0002g0224 a0002c0002t0003g0152 a0002c0002t0003g0153	3	262	0.0115	638	c.775 others(653): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGG GTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCG AATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGAT GGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(631): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCATCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCACTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCAC CCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCC ACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCA CTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0078 a0002c0002t0078	a0002c0002t0078g0232 a0002c0002t0078g0232	1	262	0.0038	638	c.775 others(653): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGG GTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCG AATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGAT GGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(631): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCAC CCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCC ACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCA CTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0013 a0006c0007t0013	a0006c0007t0013g0213 a0006c0007t0013g0213	1	262	0.0038	638	c.775 others(653): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGG GTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCG AATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGAT GGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(631): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCGCC CACCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCAC CCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCC ACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCA CTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02148.hp1 HG02738.hp2 others(1): Show HG00099.hp1 HG02148.hp1 HG02738.hp2 NA20129.hp1	a0003 a0017 a0003 a0017	a0003c0003 a0003c0015 a0017c0064 a0003c0003 a0003c0015 a0017c0064	a0003c0003t0009 a0003c0015t0009 a0003c0015t0087 others(1): Show a0003c0003t0009 a0003c0015t0009 a0003c0015t0087 a0017c0064t0063	a0003c0003t0009g0161 a0003c0015t0009g0118 a0003c0015t0087g0030 others(1): Show a0003c0003t0009g0161 a0003c0015t0009g0118 a0003c0015t0087g0030 a0017c0064t0063g0162	4	262	0.0153	638	c.775 others(653): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGG GTGGGTGGTGGAACGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCG AATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGAT GGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(631): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCACCGCTGGTCCCA GCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCC CTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCAC CCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTC CCTTCTACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTCC ACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCACCCCTG ATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTCCCTTC TACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTCCACTCC CCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCCCACCCCTGATGCC ATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCCCTTCCACTC CCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0126 a0001c0002t0057g0126	1	254	0.0039	638	c.39+ others(655): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCA CCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTG GCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTC CACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCT GGTCCCAGCCTCCCTTCTACTCCTCCCACCCGGCTTCCATTCCTGGCCCC AGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTC CCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCC CAGCCTCCCTTCTACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCT CCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCCC ACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCC TCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCC TACCCCTGAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79327566	G G	GTGGTTAA others(631): Show GTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGCGTGCC CTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCATGCTCTCCGTGTTTAGCG TGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGG TTAGCGTGCTCGCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCC GTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCT CTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCG TGCTCTCTCCATGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGG TTAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCTCC GTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCATGCT CTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTG TGCTCTCTCCATGGTTAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGG TTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCC GTGTTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0004 a0014c0022t0004	a0014c0022t0004g0276 a0014c0022t0004g0276	1	298	0.0034	638	c.177 others(657): Show c.1774-1569_1774-1568insACGTGCCCTCCGTGGTTAGCGTGCCC TCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCAT GCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTA GTGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAACGTGCCCTCCG TGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTC TCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGT GCTCTCCGTGGTTAGCGTGCTCTCTCCATGGTTAGCGTGCTCTCCGTGGT TAGCGTGCTCTCCGTGGTTAACGTGCTCTCCGTGGTTAACGTGCCCTCCG TGGTTAGCGTGCCCTCCGTGGTTAGCGTGCCCTCCCTGGTTAGCGTGCTC TCCGTGTTTAGCATGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGT GCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAACGTGCTCTCCGTGGT TAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCCC TGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGTGTGCTC TCTCCATGGTTA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
BBS5_chr2_169474494_169511655	169484989	T T	TAAAAATC others(631): Show TAAAAATCCTAGAGATTGTAGGAGATATACCAAGAGCAAAGAAAAAGGCA AACAGAGGTGGTTGGTGGTTTTATATGGCAAACCCTTCCCACTCCATAAT TTCTCCTGGGACCGACAGAAAAATATAAAAGAATCAATAGATGTCCTGAG CCCATAGCCCACTTGTAAAGATAAAATGTTGCCTAGGTAAAATGGCGTAA GGAAAACAGGTATATCTATATAAAAACCAAAAAAAGTTAAAAATGAGTTT GCAAAGGATTATTTTTTAAATAGCTATTATTTGGGGAATGTTTATTGACA GTCACTGTTCTGAATCTTTTATATAAATATAATCTCGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00733.hp2 others(18): Show HG00438.hp2 HG00621.hp2 HG00733.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01346.hp1 HG02083.hp1 HG02132.hp1 HG02523.hp1 HG02886.hp2 HG03669.hp1 NA18946.hp1 NA18965.hp1 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19006.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0001c0001t0024 a0001c0001t0032 others(1): Show a0001c0001t0003 a0001c0001t0024 a0001c0001t0032 a0004c0006t0003	a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0037 others(9): Show a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0157 a0001c0001t0024g0002 a0001c0001t0024g0021 a0001c0001t0032g0146 a0004c0006t0003g0002	21	398	0.0528	638	c.143 others(655): Show c.143-1745_143-1744insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAATCCTAGAGATTGTAGGAGAT ATACCAAGAGCAAAGAAAAAGGCAAACAGAGGTGGTTGGTGGTTTTATAT GGCAAACCCTTCCCACTCCATAATTTCTCCTGGGACCGACAGAAAAATAT AAAAGAATCAATAGATGTCCTGAGCCCATAGCCCACTTGTAAAGATAAAA TGTTGCCTAGGTAAAATGGCGTAAGGAAAACAGGTATATCTATATAAAAA CCAAAAAAAGTTAAAAATGAGTTTGCAAAGGATTATTTTTTAAATAGCTA TTATTTGGGGAATGTTTATTGACAGTCACTGTTCTGAATCTTTTATATAA ATATAATCTC	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BRSK2_chr11_1384934_1467689	1435305	C C	CCGGTGGG others(631): Show CCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAG GAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCT CGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGT GGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGG GTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCG GAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGG TCTCGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAGGAGGGGTGTC GGTGGGGGTCTCGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAGGA GGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG GCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG GGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGT GTCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGA GGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	360	0.0028	638	c.92- others(651): Show c.92-446_92-445insCCGGTGGGGGTCTCGGCGGAGGAGGGGTGTCG GTGGGGGTCTCGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAGGAG GGGTGTCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGG CGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGG GGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTG CCGGTGGGGGTCTCGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAG GAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCT CGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGT GGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGG GTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCG GAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGG TCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCC GGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA GGGGTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDH4_chr20_61247261_61945617	61331684	G G	GGCCACCT others(631): Show GGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTGCCCCAGACCC ACCTCCTGACCAAGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACC TGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCT GCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGTCCCA GGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGG CCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCAC CTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTG CCCCAGGCCCACCTCCTGCCCCGGCCACCTGACCCAGGCCCACCTCCTGC CCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGG TCTACCTCCTGCCCTGGCCACCTGCCCCAGGCCCACCTCCTGCCCCCGCC AACTGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCT CCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGTC CCAGGCCCACCTCCTGCCCCAGACCCACCTCCCGCCCCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0102 a0002c0002t0023g0102	1	106	0.0094	638	c.169 others(657): Show c.169+76778_169+76779insGCCACCTGCCCCAGACCCACCTCCTG ACCAAGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAG GCCCACCTCCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGC CACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGTCCCAGGCCCACC TCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGC CCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCC CCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGC CCACCTCCTGCCCCGGCCACCTGACCCAGGCCCACCTCCTGCCCCGGCCA CCTGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCTC CTGCCCTGGCCACCTGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCC CAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCTCCTGCCCC GGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGTCCCAGGCCC ACCTCCTGCCCCAGACCCACCTCCCGCCCCAGCCACCTGCCCCAGAGCCA CCTCCTGCCCCG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357793	G G	GTGAGGGG others(631): Show GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTG TGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGT GGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTG AGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGA GTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCAAGTGGAGGT AGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCATAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0055 a0004c0008t0001g0055	1	236	0.0042	638	c.351 others(657): Show c.3514-2415_3514-2414insAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTG AGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGG GGTCATACTGCAAGTGGAGGTAGTCACACTGTGAGGGGAGGTGGTCACAC TGAGAGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNOT3_chr19_54132762_54160681	54133882	T T	TCTCTCTC others(631): Show TCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTCTCTCC ACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCTCTCTCTCTCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	223	0.0045	638	c.-41 others(649): Show c.-4162_-4161insCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCTCTCCACCTCCCCTCTCTCT CTCCCTCCTCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTCTCTCTCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3879		chr19	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(631): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATAAAAATATATA TAAATATATAAAAAAATATAAATAGATATAAATATATAAATATATGTAAA TATATATAAATATATATATAAATATATATATAAATATATATATAAATATA TATATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATAACTATATAAATAAATATATATA AATATATAAATATATAAAAATATATATAAATATATATGTAAATATATAAA TATATATAAATATATATAAATATATATAAGTATATAAATATATATAAATA TATATAAGTATATAAATATATATAAATATATATAAGTATATAAATATATA TATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATA TAAATATATATATAAATATATATAAGTATATATAAATATATATAAGTATA TATAAATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0139 a0001c0001t0021g0139	1	264	0.0038	638	c.181 others(657): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATTTATATACTTATATATATTTATAT ATATTTATATATATTTATATATTTACATATATATTTATATATATTTTTAT ATATTTATATATTTATATATATTTATTTATATAGTTATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATATATATATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATTTACATATATTTATATATTTATATCTATTTATATTT TTTTATATATTTATATATATTTTTATATATATTTATATATTTATAAATAT ATATATATTTATATATTTATAAATATATTTATATTTATATATATTTACAT ATATATTTAGAATTACATATTTATATATATATTTATATTTATATATATTT ATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255845	G G	GAGGGGGA others(631): Show GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0212 a0003c0014t0001g0212	1	344	0.0029	638	c.85- others(655): Show c.85-13112_85-13111insTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(631): Show AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0070 a0001c0007t0001g0070	1	344	0.0029	638	c.85- others(655): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTG CCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE4_chr3_131528569_132040014	131978382	A A	ATATATAT others(631): Show ATATATATTTATATATATATATTTATATATATATTTATATATATATATTT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATTTATATATATATTTATATATATTTATATATATTTATATATTTAT ATATTTATATATATTTATATATTTATATATATATTTATATATATTTATAT ATTTATATATATATTTATATATATTTATATATTTCTATATATATTTATAT ATATTTATATATTTATATATATTTATATATATTTATATATTTATATATAT TTTTATATATTTATATATATATTTATATATTTATATATATATTTATATAT ATATTTATATATTTATATATATTTATATATATTTATATATTTATATATAT TTATATATATTTATATATATTTATATATTTATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	94	0.0106	638	c.-2+ others(655): Show c.-2+56184_-2+56185insAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATAAATATATATA AATATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATAAATATATATATAAATATATATATAAATATATAAATATATATATA AATATATAAAAATATATATAAATATATAAATATATATAAATATATATAAA TATATAAATATATATAAATATATATAGAAATATATAAATATATATAAATA TATATATAAATATATAAATATATATAAATATATATATAAATATATAAATA TATATAAATATATAAATATATAAATATATATAAATATATATAAATATATA TATAAATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATATATAAATATATATATAAATATATATATA TAAATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DIP2C_chr10_269201_694668	556311	C C	CCCCTCCC others(631): Show CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCTCCCACA GCCGGATCCGAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCA GGACAGCACCCACCCACCCCCCCTCCCACAGCCGGATCCGAGGACAGCAC CCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCA CAGCCGGATCCCAGGACAGCACCCACCCACCCCCCCTCCCACAGCCGGAT CCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCGAGGACAGCACCCA CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAG CCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGG ACAGCACCCACCCACCCCTCCCACAGCCGGATCCGAGGACAGCACCCACC CCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC AGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGAC GGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCC ACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19074.hp2 HG00597.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0016 a0001c0005t0002g0017	2	88	0.0227	638	c.86- others(655): Show c.86-69782_86-69781insTGGGTGGGTGCCGTCCTGGGATCCGGCT GTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCG GCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGG GTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTC CTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGC TGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGT GCTGTCCTCGGATCCGGCTGTGGGAGGGGGGGTGGGTGGGTGCTGTCCTG GGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGT GGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGGGTGGGT GGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCC TCGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCTGTCCTGGGATCCGGC TGTGGGAGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DPP6_chr7_154047398_154899285	154063328	C C	CCCCCCCG others(631): Show CCCCCCCGGCTTAGGGCCCCCATCGTTGATCCTAAGATCCTTAGGACCCA CCTGGAGGACTGTGGGTATTAGGTGTCCAAGTAGAGAGTTCACATCTTCT GACGGCAGGACGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCAGGTTA TTTGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCTTA CGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTTTGCAGTATTAGC CAAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGATCCGGAACTTTTGAA ATGGGGAACCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTC TGGCAGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCATTG TATGCATCAGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAACTGT GGGGCCCTGGCTGAGGCCGGTAGCCTACGTCTCTAAACAACTAGACAGGG TTGCTAAAGGACGGCCTCCCTATTTGAGGGCCTTGGCAGCAACTGCCCTG CTAGTACAAGAAGCAAATAAGCTCATTCTTGGGCAAAACCTGAACATAAA GGCCCCCCATTTTGTGATGGCTGAGATCCATCCCCTCTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	38	0.0263	638	c.243 others(657): Show c.243+10265_243+10266insCCCCCCGGCTTAGGGCCCCCATCGTT GATCCTAAGATCCTTAGGACCCACCTGGAGGACTGTGGGTATTAGGTGTC CAAGTAGAGAGTTCACATCTTCTGACGGCAGGACGGTCCGAACGCAGCTC GGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGGCA GAAGGCAGGTGAGAGAATTCTTACGAGCTGTGGGGTTTTGTAGACTGTGG ATCCCAAACTTTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAAAGGG GGCGGGGATCCGGAACTTTTGAAATGGGGAACCCAACAACAGCAAGTTTT TCATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCG ATCTGACAAAGCCTTTTCCATTGTATGCATCAGAGAGAGAAAAGATGGCA GCTGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGTAGCCTA CGTCTCTAAACAACTAGACAGGGTTGCTAAAGGACGGCCTCCCTATTTGA GGGCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTCATT CTTGGGCAAAACCTGAACATAAAGGCCCCCCATTTTGTGATGGCTGAGAT CCATCCCCTCTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
DPP6_chr7_154047398_154899285	154063328	C C	CCCCCCCG others(631): Show CCCCCCCGGCTTAGGGCCCCCATCGTTGATCCTAAGATCCTTAGGACCCA CCTGGAGGACTGTGGGTATTAGGTGTCCAAGTAGAGAGTTCACATCTTCT GACGGCAGGACGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCAGGTTA TTTGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCTTA CGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTTTGCAGTATTAGC CAAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGATCCGGAACTTTTGAA ATGGGGAACCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTC TGGCAGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCATTG TATGCATCAGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAACTGT GGGGCCCTGGCTGAGGCCGGTAGCCTACGTCTCTAAACAACTAGACAGGG TTGCTAAAGGATGGCCCCCCTATTTGAGGGCCTTGGCAGCAACTGCCCTG CTAGTACAAGAAGCAAATAAGCTCATTCTTGGGCAAAACCTGAACATAAA GGCCCCCCATTTTGTGATGGCTGAGATCCATCCCCTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp1 HG01433.hp1 others(4): Show HG00558.hp1 HG01071.hp1 HG01433.hp1 HG01952.hp1 HG02129.hp2 HG03579.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0017 others(3): Show a0001c0001 a0001c0007 a0001c0017 a0002c0005 a0002c0013 a0002c0014	a0001c0001t0016 a0001c0007t0005 a0001c0007t0019 others(4): Show a0001c0001t0016 a0001c0007t0005 a0001c0007t0019 a0001c0017t0020 a0002c0005t0024 a0002c0013t0018 a0002c0014t0025	a0001c0001t0016g0005 a0001c0007t0005g0038 a0001c0007t0019g0037 others(4): Show a0001c0001t0016g0005 a0001c0007t0005g0038 a0001c0007t0019g0037 a0001c0017t0020g0033 a0002c0005t0024g0031 a0002c0013t0018g0026 a0002c0014t0025g0029	7	38	0.1842	638	c.243 others(657): Show c.243+10265_243+10266insCCCCCCGGCTTAGGGCCCCCATCGTT GATCCTAAGATCCTTAGGACCCACCTGGAGGACTGTGGGTATTAGGTGTC CAAGTAGAGAGTTCACATCTTCTGACGGCAGGACGGTCCGAACGCAGCTC GGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGGCA GAAGGCAGGTGAGAGAATTCTTACGAGCTGTGGGGTTTTGTAGACTGTGG ATCCCAAACTTTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAAAGGG GGCGGGGATCCGGAACTTTTGAAATGGGGAACCCAACAACAGCAAGTTTT TCATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCG ATCTGACAAAGCCTTTTCCATTGTATGCATCAGAGAGAGAAAAGATGGCA GCTGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGTAGCCTA CGTCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTTGA GGGCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTCATT CTTGGGCAAAACCTGAACATAAAGGCCCCCCATTTTGTGATGGCTGAGAT CCATCCCCTCTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
DPP6_chr7_154047398_154899285	154063328	C C	CCCCCCCG others(631): Show CCCCCCCGGCTTAGGGCCCCCATCGTTGATCCTAAGATCCTTAGGACCCA CCTGGAGGACTGTGGGTATTAGGTGTCCAAGTAGAGAGTTCACATCTTCT GACGGCAGGACGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCAGGTTA TTTGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCTTA CGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTTTGCAGTATTAGC CAAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGATCCGGAACTTTTGAA ATGGGGAACCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTC TGGCAGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCATTG TATGCATCAGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAACTGT GGGGCCCTGGCTGAGGCCGGTAGCCTACGTCTCTAAACAACTAGACAGGG TTGCTAAAGGATGGCCCCCCTATTTGAGGGCCTTGGCAGCAACTGCCCTG CTAGTACAAGAAGCAAATAAGCTGATTCTTGGGCAAAACCTGAACATAAA GGCCCCCCATTTTGTGATGGCTGAGATCCATCCCCTCTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0030 a0002c0002t0022g0030	1	38	0.0263	638	c.243 others(657): Show c.243+10265_243+10266insCCCCCCGGCTTAGGGCCCCCATCGTT GATCCTAAGATCCTTAGGACCCACCTGGAGGACTGTGGGTATTAGGTGTC CAAGTAGAGAGTTCACATCTTCTGACGGCAGGACGGTCCGAACGCAGCTC GGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGGCA GAAGGCAGGTGAGAGAATTCTTACGAGCTGTGGGGTTTTGTAGACTGTGG ATCCCAAACTTTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAAAGGG GGCGGGGATCCGGAACTTTTGAAATGGGGAACCCAACAACAGCAAGTTTT TCATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCG ATCTGACAAAGCCTTTTCCATTGTATGCATCAGAGAGAGAAAAGATGGCA GCTGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGTAGCCTA CGTCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTTGA GGGCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTGATT CTTGGGCAAAACCTGAACATAAAGGCCCCCCATTTTGTGATGGCTGAGAT CCATCCCCTCTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
EHMT1_chr9_137614005_137841127	137716247	G G	GGTGTCAT others(631): Show GGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAAGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	170	0.0059	638	c.86- others(651): Show c.86-376_86-375insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AAGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAA GTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FBXL14_chr12_1560993_1599581	1574398	G G	GAGAGGAG others(631): Show GAGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGAGGC TGGCGGCAGCACTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAG CCGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTG GTGGCAGCAGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGG TGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGA GGCTGGGGTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGT GAGGGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGG CTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGG GTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTG GGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGG GAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTG GGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAG GGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGTGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0065 a0001c0003t0004g0065	1	418	0.0024	638	c.119 others(657): Show c.1195-7589_1195-7588insTCACCCAGCCTCCACCCACACCGCTG CCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCA GCCTCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCC CCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAG CCTCCTCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCA CCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCT CCCCTCACCCCAGCCTCCACCCACACGGCTGCCACCAGCCTCCCCTCACC CCAGCCTCCCCTCACCCCAGCCTCCACCCACACGGCTGCCACCAGCCTCC CCTCACCCCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCCCCCACCCCA GCCTCCATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCC ACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCCTCACCCCAGCC TCCACCCACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCAC AGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCA CCAGCCTCCTCT	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGCCTG others(631): Show GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	384	0.0026	638	c.467 others(653): Show c.467-946_467-945insCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGCCTG others(631): Show GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	384	0.0026	638	c.467 others(653): Show c.467-946_467-945insCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(631): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19066.hp2 NA18946.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0068 a0001c0001t0001g0074	2	384	0.0052	638	c.467 others(653): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(631): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18984.hp2 NA18985.hp1 others(2): Show NA18612.hp2 NA18984.hp2 NA18985.hp1 NA18999.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0084 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087	5	384	0.0130	638	c.467 others(653): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890019	G G	GGGGTCTG others(631): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	384	0.0026	638	c.467 others(653): Show c.467-876_467-875insCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(631): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATTTATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA CATATAAATATATATAAATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0066 a0001c0003t0066	a0001c0003t0066g0032 a0001c0003t0066g0032	1	208	0.0048	638	c.-97 others(655): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(631): Show CCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACC ACTCACCCGAAAGATCCCTCTCCACCCTCCAACCACCACTCACCCGAAAG ATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTC CACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCC ATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACC CGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCT CCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCG AAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTC CACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0066 a0001c0001t0058g0066	1	398	0.0025	638	c.64+ others(655): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGAT GGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGA GGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGG TGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGAGGGTGGAGAGGGATCT TTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTG GTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(631): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATTTATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0078 a0001c0002t0023g0078	1	242	0.0041	638	c.174 others(657): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT TTATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LAIR1_chr19_54346384_54369931	54349497	T T	TGGATGGA others(631): Show TGGATGGATGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGACACAG ATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGGTGAATGGATG GAGGACGCAGATCCTGAGGGTGGATGGATGGAGGGAGGACGCAGATCCTG AGGATGGATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGAC ACAGATCCTGAGGGTGGATGGATGGAGGACAGAGATCCTGAGGATGGATG GAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTG AGGGTGAATGGATGGAGGACACAGATCCTGAGGGTGAATGGATGGAGGAC ACAGATCCTGAGGGTGGATGGATGGAGGGAGGACACAGATCCTGAGGATG GATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGAT CCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGGATGGAGGGA GGACGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGGTG AATGGATGGAGGACACAGATCCTGAGGGTGAATGGATGGAGGACACAGAT CCTGAGGGTGGATGGATGGAGGGAGGACGCAGATCCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG01192.hp2 others(20): Show HG00642.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03225.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0004c0006 a0004c0023	a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 others(6): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0005t0013 a0001c0007t0013 a0001c0007t0029 a0004c0006t0007 a0004c0023t0031	a0001c0001t0007g0024 a0001c0001t0007g0079 a0001c0001t0007g0080 others(15): Show a0001c0001t0007g0024 a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0126 a0001c0001t0007g0149 a0001c0001t0007g0183 a0001c0001t0013g0141 a0001c0001t0015g0062 a0001c0001t0015g0195 a0001c0001t0015g0198 a0001c0001t0024g0180 a0001c0001t0024g0182 a0001c0005t0013g0201 a0001c0007t0013g0052 a0001c0007t0029g0144 a0001c0007t0029g0197 a0004c0006t0007g0048 a0004c0023t0031g0069	23	462	0.0498	638	c.57 others(649): Show c.5770_*5771insTCAGGATCTGCGTCCTCCCTCCATCCATCCACCC TCAGGATCTGTGTCCTCCATCCATTCACCCTCAGGATCTGTGTCCTCCAT CCATTCACCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTG CGTCCTCCCTCCATCCATCCTCAGGATCTGCGTCCTCCCTCCATCCATCC TCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCT CCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCATCCACCCTCAGGA TCTGTGTCCTCCATCCATTCACCCTCAGGATCTGTGTCCTCCATCCATTC ACCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCT CCCTCCATCCATCCTCAGGATCTCTGTCCTCCATCCATCCACCCTCAGGA TCTGTGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCC ATCCTCAGGATCTGCGTCCTCCCTCCATCCATCCACCCTCAGGATCTGCG TCCTCCATCCATTCACCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTC AGGATCTGTGTCCTCCCTCCATCCATCCTCAGGATCTGCGTCCTCCATCC ATCC	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		1886		chr19	TogoVar
LHFPL3_chr7_104323603_104913561	104824299	T T	TATTATAT others(631): Show TATTATATATATATTATATTATATATTATATATAATTATATATATTTTAT ATATTATATATTATATATTATATATTATATATTATATATATTATATATTA TATATTATATATATTATATATTATATATTATATATTATATATATTATATA TTATATATACAATTATATATATTATATATATTATATATTATATAATATAT TATATATATAATATATATTATATATTATATATTATATAATATATTATATA TATAATATATTATATATTATATATTATATAATATATTATATATTATATAT ATTATATATTATATATTATATATTATATATATAATATATATTATATATTA TATATTATATATAATATATATTATATATATTATATATAATATATATAATT GTATATATAATATATAATATATAATATATATAATATATAATATATAATAT ATAATATATAATATATATAATATATTATATATAATATATAATATATAATA TATATAATATATTATATATAATATATAATATATAATATATATTATATATA TAATATATTATATAATATATTATATATATAATATATATTATATATTATAT ACAATATATTATATATTATATACATTATATATTATATAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	86	0.0116	638	c.683 others(657): Show c.683-81878_683-81877insTATTATATTATATATTATATATAATT ATATATATTTTATATATTATATATTATATATTATATATTATATATTATAT ATATTATATATTATATATTATATATATTATATATTATATATTATATATTA TATATATTATATATTATATATACAATTATATATATTATATATATTATATA TTATATAATATATTATATATATAATATATATTATATATTATATATTATAT AATATATTATATATATAATATATTATATATTATATATTATATAATATATT ATATATTATATATATTATATATTATATATTATATATTATATATATAATAT ATATTATATATTATATATTATATATAATATATATTATATATATTATATAT AATATATATAATTGTATATATAATATATAATATATAATATATATAATATA TAATATATAATATATAATATATAATATATATAATATATTATATATAATAT ATAATATATAATATATATAATATATTATATATAATATATAATATATAATA TATATTATATATATAATATATTATATAATATATTATATATATAATATATA TTATATATTATATACAATATATTATATATTATATACATTATATATTATAT ACATTATATATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(631): Show ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTATATATATTTATATATAGTTAT ATATATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTAT GTATAGTTATATATATAGTTATGTATAGTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATTTATATATATAGTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATTTATATATATTTATAT ATGTATTTATATATATTTATATATATTTATATGTATTTATATATATTTAT ATATATTTATATATATATATATAAATATATTTATATATATAAATATAAAT ATTTATATATATTTATATATATTTATATATATATTTATGTATATTTATAT ATATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0153 a0003c0003t0006g0153	1	260	0.0039	638	c.125 others(655): Show c.125+9673_125+9674insATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATATTTTTATATATATTTATATATATTTATAT ATATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGT ATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATATTTTTATATATATAGTTATATATATATTTATATATATAG TTATATATTTATATATATTTATATATATTTATATATATATTTATATATTT ATTTATATATATTTATATATGTATTTATATATATTTATATATATTTATAT GTATTTATATATATTTATATATATTTATATATATATATATAAATATATTT ATATATATAAATATAAATATTTATATATATTTATATATATTTATATATAT ATTTATGTATATTTATATATATTTATATATATATTTATGTATATTTATAT ATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(631): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0072 a0002c0002t0004g0072	1	296	0.0034	638	c.368 others(655): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(631): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCTGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0279 a0001c0004t0031g0279	1	296	0.0034	638	c.368 others(655): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCAGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LUC7L_chr16_183990_234449	186119	G G	GGAGGAAC others(631): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	350	0.0029	638	c.30 others(649): Show c.3078_*3079insTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2870		chr16	TogoVar

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Search Results (Total: 10000 hits)