Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(502): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGG GGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	509	c.34 others(518): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCATCTCCCCTCCC CCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTC CCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCTCCCC CCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTC CCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(502): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGGAGGGGG AGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAAGGGG AAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGG GGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	251	0.0040	509	c.34 others(518): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCTTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(502): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGGAGGGGG AGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG GGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGG AAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGG GGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 NA19065.hp1 HG01081.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0075 a0001c0001t0001g0001 a0001c0001t0001g0075	2	251	0.0080	509	c.34 others(518): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
TCF3_chr19_1604292_1657615	1628362	G G	GTGAGGCG others(502): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGG GACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGG GACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAG GGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCG GGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0010 a0001c0005t0004g0010	1	352	0.0028	509	c.299 others(524): Show c.299-937_299-936insTCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTC TGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THNSL2_chr2_88165346_88191627	88181111	C C	CTCCTCTC others(502): Show CTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCCTCTCTTCCTCTCTCT CTCCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0014 a0004c0004t0007g0014	1	54	0.0185	509	c.803 others(526): Show c.803-1588_803-1587insTCCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCCTCTCTCTCCT CTCTCCTCTCTTCCTCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC TCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCCTCTCTCT	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8			chr2	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(502): Show ATATTATATATACATTATATATATTATATATTATATATACATTATATATA TTATATATTATATATACATTATATATATTATATATTATATATACATTATA TATATTATATATTATATATACATTATATATATTATATATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	224	0.0045	509	c.102 others(528): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATAATATATATAATGTATAT ATAATATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TPK1_chr7_144446941_144841053	144780558	T T	TATATTAT others(502): Show TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TATATTATATTATATAGTATATAATATATATTATATTATATAGTATATAA TATAGTATATATTATATAGTATATAATATAGTATATATTATATAGTATAT AATATAGTATATATTATATAGTATATAATATAGTATATATTATATAGTAT ATAATATAGTATATATTATATAGTATATAATATAGTATATATTATATAGT ATATAATATAGTATATATTATATAGTATATAATATAGTATATATTATATA GTATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAG TATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATA TAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATTAT ATAGTATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	118	0.0085	509	c.44- others(526): Show c.44-14608_44-14607insTATATACTATATAATATAATATACTATA TTATATACTATATAATATAATATACTATATTATATACTATATAATATAAT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATATACTATA TTATATACTATATAATATATACTATATTATATACTATATAATATATACTA TATTATATACTATATAATATATACTATATTATATACTATATAATATATAC TATATTATATACTATATAATATATACTATATTATATACTATATAATATAT ACTATATTATATACTATATAATATATACTATATTATATACTATATAATAT AATATATATTATATACTATATAATATAATATATATTATATACTATATAAT ATAATATACTATATTATATACTATATAATAT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(502): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT TTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTAC ATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0178 a0001c0001t0028g0178	1	250	0.0040	509	c.82+ others(524): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTATT TAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATA TATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(502): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATATATTATATATTATATTTATGTAATATATAATATATATTTATATA TTATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATAT TTATATATATTTATGTAATATATAATATTTATATATTATATTTATGTAAT ATATAATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0002 a0002c0029t0002	a0002c0029t0002g0036 a0002c0029t0002g0036	1	204	0.0049	509	c.213 others(528): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATATATAAATATTATATATTACAT AAATATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAAATATTATATATTACATAAATATAATATATAAATATTATATATTAC ATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAAT ATTATATATTACATAAATATAATATATAAATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATATATT ATATATTACATAAATATAATATATAATATATATTATATATTACATAAATA TAATATATAATATATATTATATATTACATAAATATAATATATAATATATA TTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(502): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAA TATTTATATATATTTATGTAATATATAATATTTATATATTATATTTATGT AATATATAATATTTATATATTATATTTATGTAATATATAATATTTATATA TTATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATAT AATATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0042 a0001c0009t0004g0042	1	204	0.0049	509	c.213 others(528): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATTATAT ATTACATAAATATAATATATAAATATTATATATTACATAAATATAATATA TAAATATTATATATTACATAAATATATATAAATATTATATATTACATAAA TATAATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAAATATTATATATTACATAAATATAATATATAAATATTATATATTAC ATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAAT ATTATATATTACATAAATATAATATATAAATATTATATATTACATAAATA TAATATATAATATATATTATATATTACATAAATATAATATATAATATATA TTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(502): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCAT TCCTTCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCT CCCTTTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTC TTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02622.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0025 a0001c0006t0004 a0001c0001t0025 a0001c0006t0004	a0001c0001t0025g0026 a0001c0006t0004g0031 a0001c0001t0025g0026 a0001c0006t0004g0031	2	64	0.0313	509	c.104 others(528): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCTCCTCTCCTTCCCT CCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCCCTTTCCCT CCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCTTTCCCC TACCCCTCCCCTGTCTTCTCCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(502): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	341	0.0029	509	c.35 others(518): Show c.354_*355insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(502): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTC CCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCC TCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCC CTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0005 a0002c0027t0005	a0002c0027t0005g0137 a0002c0027t0005g0137	1	246	0.0041	509	c.53- others(522): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCT CCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCC CCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC CCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCC CCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCTCTCTC others(502): Show TCTCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCC TCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCC CTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCT CTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCC CTCCCCCTCTCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCC CTCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCC CTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0094 a0002c0002t0006g0094	1	246	0.0041	509	c.53- others(522): Show c.53-452_53-451insTCTCTCCCCTCCCCCTCCCCATCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCC TCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCC CCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCT CCTCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCCTCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTTTCCCCCCTCCCTTCCCCCTCC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(502): Show ATATATAATATTATATTATATTATATATATATATAATATATATATATTAT ATATATATATAATATATATATATTATATATATAATATATCTATTATATAT ATTATATTATATATAATAATATATAATATATATATATATATTATATATAT ATTATATATATTATATATATTATATATATTATTATAGATATTATATATAT ATTAATATATATAATATATATATAATATATATTATATATATAATATATAT ATATTATATATATAATATATATATTTAATATATATATTATATATATAATA TATATTATATATATAATATATATATTTCAAATATATATTATATATAATAT ATATATTATATATATATATATATATAATATATATATTATATATATAATAT ATATATATATATATATAATATATATATTTAATATATATATTATATATATA ATATATATTATATATATAATATATATATTTAATATATATTATATATATAA TATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0169 a0003c0004t0001g0169	1	330	0.0030	509	c.38 others(520): Show c.3884_*3885insAATATATATATTATATATATAATATATATTAAAT ATATATATTATATATATAATATATATTATATATATAATATATATATTAAA TATATATATTATATATATATATATATATATTATATATATAATATATATAT TATATATATATATATATATAATATATATATTATATATAATATATATTTGA AATATATATATTATATATATAATATATATTATATATATAATATATATATT AAATATATATATTATATATATAATATATATATATTATATATATAATATAT ATTATATATATATTATATATATTAATATATATATAATATCTATAATAATA TATATAATATATATAATATATATAATATATATATAATATATATATATATA TTATATATTATTATATATAATATAATATATATAATAGATATATTATATAT ATAATATATATATATTATATATATATATAATATATATATATTATATATAT ATATAATATAATATAATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(503): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18974.hp1 HG03017.hp2 NA18974.hp1	a0001 a0001	a0001c0004 a0001c0064 a0001c0004 a0001c0064	a0001c0004t0003 a0001c0064t0023 a0001c0004t0003 a0001c0064t0023	a0001c0004t0003g0219 a0001c0064t0023g0314 a0001c0004t0003g0219 a0001c0064t0023g0314	2	354	0.0057	510	c.523 others(529): Show c.523-13463_523-13462insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100058157	A A	AGCTCTAA others(503): Show AGCTCTAACCCTCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAAC ACCCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACACCCCTATC CCGGCTCTAACACCCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTA ACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCT ATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCT CTAACCGTCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCCTCC TATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCAGC TCTAACACCCCATATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACAC CCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACACCCCTATCCC GGCTCTGACCCTCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACC CTCCTATCCCG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0059 a0002c0001t0002g0059	1	228	0.0044	510	c.213 others(529): Show c.2138-4104_2138-4103insCGGGATAGGAGGGTTAGAGCCGGGAT AGGGGTGTTAGAGCCGGGATAGGAGGGTCAGAGCCGGGATAGGGGTGTTA GAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGG ATAGGAGGGTTAGAGCCGGGATATGGGGTGTTAGAGCTGGGATAGGAGGG TTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCG GGATAGGGGTGTTAGAGCCGGGATAGGACGGTTAGAGCCGGGATAGGGGT GTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGC CGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGG GGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAGA GCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGGTGTTAGAGCCGGGATA GGGGGTGTTAGAGCCGGGATAGGAGGGTTAGAGC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(503): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG GAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAG GGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGG GAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGA GGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGG AGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	352	0.0028	510	c.51 others(521): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCTCC TCCCCCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCT CCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTC CTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCC TCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCT CCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(503): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATACTATATATA TTCTATATACAGAATATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATA CAGAATATATATAGTATATATATTCTGTATACAGAATATATATACTATAT ATATTCTATATACAGAATATATATACTATATATATTCTGTATATAGAATA TATATAGTATATATATTCTGTATATAGAATATATATAGTATATATATTCT GTATACAGAATATATATAGTATATATATTCTGTATATAGAATATATATAC TATATTAATTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	236	0.0042	510	c.409 others(529): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTGTATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTCTATATACAGA ATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTATAT AGAATATATATACTATATATATTCTGTATATAGAATATATATAGTATATA TATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATAT ATATACTATATATATTCTGTATATAGAATATATATACTATATATATTCTG TATATAGAATATATATACTATATATATTCTGTATATAGAATATATATACT ATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(503): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATACTATATATA TTCTATATACAGAATATATATAGTATATATATTCTATATACAGAATATAT ATAGTATATATATTCTGTATACAGAATATATAGTATATATATTCTGTATA CAGAATATATATAGTATATATATTCTGTATACAGAATATATATACTATAT ATATTCTATATACAGAATATATATACTATATATATTCTATATATAGAATA TATATAGTATATATATTCTGTATATAGAATATATATAGTATATATATTCT GTATACAGAATATATATAGTATATATATTCTGTATATAGAATATATATAC TATATTAATTC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	236	0.0042	510	c.409 others(529): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTGTATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTCTATATATAGA ATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTGTATACAGAATATATA TACTATATATTCTGTATACAGAATATATATACTATATATATTCTGTATAT AGAATATATATACTATATATATTCTGTATATAGAATATATATAGTATATA TATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATAT ATATACTATATATATTCTGTATATAGAATATATATACTATATATATTCTG TATATAGAATATATATACTATATATATTCTGTATATAGAATATATATACT ATATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	415308	T T	TGGGAGGC others(503): Show TGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCG GGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAACCTGCCTGGT CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAG GGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGAGGCCT AGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCC TGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGC CTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTC CCTGGTCGGGC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0004 a0003c0004t0004g0004	1	268	0.0037	510	c.441 others(527): Show c.441+1893_441+1894insGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGG TCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAACCTGCCT GGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCC TAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGA GGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAAT CTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(503): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGCGGGAGGCCTAGGGGCGGAGTCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGC CTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTG CCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAG GCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTC TCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGG AGGCCTAGGGGCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAA TCTGCCTGGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	268	0.0037	510	c.441 others(527): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCGGAGTCT GCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGT CTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGG GAGGCCTAGGGGCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGA ATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGT GGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCC GAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTGGG GCGGGAGGCCTAGGGGCCGAATCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(503): Show CTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCGGAGTCTGCCTG GTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGC CTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTG CCTGGTCTGCTGGGAGGCCTAGGGGCGGAGTCTGCCTGGTGGGGCGGGAG GCCTAGGGGCCGAATCTGCCTGGTGGGGTGGGAGGCCTAGGGGCCGAATC TGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGG AGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAA TCTGCCTGGTG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0182 a0005c0005t0015g0182	1	268	0.0037	510	c.441 others(527): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGG CCTAGGGGCGGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAAT CTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCGGA GTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGG CTGGGAGGCCTAGGGGCCGAATCTGCCTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415633	A A	ATCTCCCT others(503): Show ATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCT GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGG GCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGAGGCCTAGGGG CCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTC GGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGG GGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGG TCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTA GGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCT GGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCC TAGGGGCGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0021 a0008c0013t0001g0021	1	268	0.0037	510	c.441 others(527): Show c.441+2203_441+2204insCCCTGGTCGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGG GCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGG CCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTC GGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGG GGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTA GGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCC TAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCGGAGTCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(503): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGGAGGAGGAGGGGGGGAGGAGGGGGAGGAGGGGGGAGGAGGGGGGA GGAGGGGGGAGGAGGGGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGG GAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGGGGA GGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAG GAGGAGGAGGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAG GAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0293 a0001c0001t0020g0293	1	301	0.0033	510	c.125 others(531): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCC CCCTCCTCCTCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCTCCTCCCCCCCTCCTCCTCCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCT CCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCT TCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCC CCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(503): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGGAGGAGGGGGAGGGGGGAGGGGGGGGAG GAGGAGGGGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGG GGAGGAGGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGAGGGGAGGGGG AGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGG GAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGG GGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGA GGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	301	0.0033	510	c.125 others(531): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCTCC TCCCCCTCCCCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCCCCCCCCTCCTCCCCCCCCCCCCTCCTCCTCCCCCCCCTCC CCCCTCCCCCTCCTCCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCT CCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCT TCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCC CCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALLC_chr2_3653200_3707671	3690362	C C	CCCTCCCC others(503): Show CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCC CTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTC CTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTC CCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0234 a0002c0005t0001g0234	1	274	0.0037	510	c.512 others(527): Show c.512-5354_512-5353insCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCGTCCCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCCCTCCTCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCC TCCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP3D1_chr19_2095988_2156566	2128705	C C	CCCCACAG others(503): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGC CGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCC CGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCGCCGCTCCGA CACTGCACCCCGTGGAGCCGGCCCGCCCCGCCGCTCCAGCACTGCACCCC GTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCGCCGCTCCAGCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCC GCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCGCCGCTCCAGCACTGCACCCCGTG GAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0009 a0001c0006t0002g0009	1	406	0.0025	510	c.806 others(525): Show c.806+384_806+385insCGGGCCGGCTCCACGGGGTGCAGTGCTGGA GCGGCGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTC CACGGGGTGCAGTGCTGGAGCGGCGGGGCGGGCCGGCTCCACGGGGTGCA GTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGCTGGAGCG GCGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGCGGGCCGGCTCCACGG GGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTG GGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGG CTCCACGGGGTGCAGTGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(503): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	246	0.0041	510	c.298 others(527): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(503): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	246	0.0041	510	c.298 others(527): Show c.2981-321_2981-320insCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144531242	C C	CAGGGCAG others(503): Show CAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCT GAAGGGCACAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	246	0.0041	510	c.298 others(527): Show c.2981-372_2981-371insTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTCTCTGCCCTGTGCCCTTCAGCTGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGC CCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCC CCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTA GCCCACTCCCCACCTGCTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTC TAGCCCACTCCCCACCTGCTGCTCTCTGCCCT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(503): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCG TGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTT ACAGCCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTT CGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTG TTACAGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01071.hp2 others(20): Show HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01255.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02630.hp1 HG02818.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0026 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0024 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0003g0277 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0303 a0001c0001t0011g0172 a0001c0001t0026g0311 a0001c0006t0001g0114	23	314	0.0733	510	c.61 others(521): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTC TGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAAC GAACAACTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGG TCTGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGA ACGAACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(503): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCG TGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTT ACAGCCGTTAAGGTGGCGCGTCTGCAGTTGTTTGTTCCTTCCGGTGGGTT CGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTG TTACAGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0154	1	314	0.0032	510	c.61 others(521): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACAAACAA CTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTC TGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAAC GAACAACTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGG TCTGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGA ACGAACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(503): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCG TGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTT ACAGCCGTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTT CGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTG TTACAGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0281 a0001c0001t0003g0281	1	314	0.0032	510	c.61 others(521): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTC TGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAAC GAACAACTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGG TCTGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGA ACGAACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642305	T T	TAAGGTGG others(503): Show TAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCG TGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTT ACAGCCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTT CGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTG TTACAGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	314	0.0032	510	c.61 others(521): Show c.6182_*6183insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTC TGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAAC GAACAACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGG TCTGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGA ACGAACAACTCCACACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		4120		chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57642509	T T	TAAGGTGG others(503): Show TAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCTGGTGGGTTCGTGGTCT CGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAGCC GTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTGGT CTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTACAG CCGTGAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCGTG GTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTTAC AGCCGTTAAGGTGGCGCGTGTGGAGTTGTTCGTTCCTTCCGGTGGGTTCG TGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTGTT ACAGCCGTTAAGGTGGCGCGTCTGCAGTTGTTCGTTCCTTCCGGTGGGTT CGTGGTCTCGCTAGCTTCAGGAGTGAAGCTTCAGACCTTCACGGTGAGTG TTACAGCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0035 a0001c0012t0035	a0001c0012t0035g0008 a0001c0012t0035g0008	1	314	0.0032	510	c.59 others(521): Show c.5978_*5979insCACGGCTGTAACACTCACCGTGAAGGTCTGAAGC TTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAACAA CTGCAGACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTGAA GCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGAAC AACTCCACACGCGCCACCTTAACGGCTGTAACACTCACCGTGAAGGTCTG AAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAACGA ACAACTCCACACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGGTC TGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCGGAAGGAAC GAACAACTCCACACGCGCCACCTTCACGGCTGTAACACTCACCGTGAAGG TCTGAAGCTTCACTCCTGAAGCTAGCGAGACCACGAACCCACCAGAAGGA ACGAACAACTGCAGACGCGCCACCTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding		3916		chr18	TogoVar
BFSP2_chr3_133395056_133480208	133425964	A A	AGGGGAGG others(503): Show AGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGAGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATG GGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAG AGGGAGGGGATGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGGAGGGGGGGAG GGAAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GGGGAGGGGAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	276	0.0036	510	c.490 others(529): Show c.490-21348_490-21347insGGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGAGGGGATGGGA GGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGG GGAGGGGATGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGG AGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGGGAGGGGGAGGGGG AGGGGGGAGGGGGAGGGGGAGGGGAGGGGAGAGGGAGGGGATGGGGAGGG GAGGGGGGAGGGGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGGGAGGGGAGGGGGAGGGGATGGGGA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(503): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGG GGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01258.hp2 others(1): Show HG00280.hp2 HG01175.hp1 HG01258.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	300	0.0133	510	c.-70 others(519): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(503): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	398	0.0025	510	c.-22 others(521): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(503): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	510	c.-22 others(521): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531242	C C	CAGGGCAG others(503): Show CAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCT GAAGGGCACAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	398	0.0025	510	c.-23 others(521): Show c.-2327_-2326insTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCTCTGCCCTGTGCCCTTCAGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGC TGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCT GCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCTCTGCCCT	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2132		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1185654	A A	ATGCATAG others(503): Show ATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCG TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGCATGTGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGTCGGCG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0035 a0035	a0035c0104 a0035c0104	a0035c0104t0002 a0035c0104t0002	a0035c0104t0002g0064 a0035c0104t0002g0064	1	338	0.0030	510	c.300 others(527): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGTCGGCGTGCATAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185776	G G	GGAGGCGG others(503): Show GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCG TGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC AGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19090.hp2 HG00423.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0034 a0001c0001t0022 a0001c0001t0034	a0001c0001t0022g0298 a0001c0001t0034g0117 a0001c0001t0022g0298 a0001c0001t0034g0117	2	338	0.0059	510	c.300 others(527): Show c.300-9186_300-9185insACGTGGGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCAGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(503): Show ACACACACACATACAGACACAACCACACCACACACACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACACACTCACATACGGA CACAACCACACCACACTCACACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACATACAC ACTCACATACAGACACAACCACACCACACACACACACACACTCACATACA GACACAACCACACCACACTCACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCCCAC ACACACACACT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0274 a0005c0006t0003g0274	1	460	0.0022	510	c.193 others(527): Show c.1938+733_1938+734insCACACATACAGACACAACCACACCACAC ACACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACACACTCACATACGGACACAACCACACCACACTCACACACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACATACACACTCACATACAGACACAACCACAC CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCCCACACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(503): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCTCCCCCA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	410	0.0024	510	c.-22 others(527): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCG TCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544780	T T	TCGTCTCC others(503): Show TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGTCGC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0013 a0001c0008t0001g0013	1	410	0.0024	510	c.-22 others(527): Show c.-22-2036_-22-2035insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCCACGTCG CCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(503): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTC CCCTCACCTGCCACGGCCTACCTTCCTGTCCCCTCACCTGCCACGGCCTA CCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp2 NA18995.hp1 others(1): Show HG01496.hp1 HG01943.hp2 NA18995.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0039 a0001c0001t0001g0138 a0001c0001t0001g0140 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0003g0275	4	284	0.0141	510	c.411 others(527): Show c.4112+679_4112+680insGGACAGGAAGGTAGGCCGTGGCAGGTGA GGGGACAGGAAGGTAGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTG TGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGT GAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CEP72_chr5_607340_658553	651285	T T	TGACTGTG others(503): Show TGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGAC TGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTG TGACTGAGGTGTGACTGTGGGTGTGAGGTGTGACTGTGAGGGGTGGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGG ACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGGACTGTGAGGTGTGAC TGTGAGGCGTG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19065.hp1 NA18971.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0002 a0004c0004t0003g0002	2	91	0.0220	510	c.177 others(529): Show c.1779-1640_1779-1639insCGTGGACTGTGAGGTGTGACTGTGAG GTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGGA CTGTGAGGTGTGACTGAGGTGTGACTGTGGGTGTGAGGTGTGACTGTGAG GGGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGTGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGCG TGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGAC TGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(503): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTCTCTTCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	354	0.0028	510	c.69 others(521): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTCTCTTCTTCCTCCCTCCTCCCTTCCCC CTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(503): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	354	0.0028	510	c.69 others(521): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCTCCCTTCCCC CTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar

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Search Results (Total: 10000 hits)