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
ASTN2_chr9_116418112_117420057	116502718	GGAAGGAA others(9): Show GGAAGGAAGGAAGGAAT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	102	0.0098	-16	c.335 others(37): Show c.3356-15234_3356-15219delATTCCTTCCTTCCTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116502722	GGAAGGAA others(9): Show GGAAGGAAGGAATGAAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01169.hp2 others(11): Show HG01081.hp2 HG01099.hp1 HG01169.hp2 HG01256.hp1 HG02004.hp2 HG03130.hp2 HG03239.hp2 HG04199.hp1 NA18959.hp1 NA19010.hp1 NA19012.hp1 NA19065.hp1 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0010 a0001c0017 a0003c0019	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0008t0005 a0001c0009t0004 a0001c0010t0001 a0001c0010t0004 a0001c0017t0002 a0003c0019t0002	a0001c0001t0001g0054 a0001c0001t0004g0060 a0001c0002t0001g0042 others(11): Show a0001c0001t0001g0054 a0001c0001t0004g0060 a0001c0002t0001g0042 a0001c0002t0003g0022 a0001c0002t0003g0068 a0001c0002t0004g0043 a0001c0002t0004g0047 a0001c0002t0004g0092 a0001c0008t0005g0081 a0001c0009t0004g0032 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0017t0002g0089 a0003c0019t0002g0025	14	102	0.1373	-16	c.335 others(37): Show c.3356-15238_3356-15223delATTCATTCCTTCCTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116502726	GGAAGGAA others(9): Show GGAAGGAATGAATGAAT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG02922.hp1 others(2): Show HG01261.hp1 HG01884.hp1 HG02922.hp1 HG03041.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0011 a0001c0005t0005 a0001c0001t0006 a0001c0001t0011 a0001c0005t0005	a0001c0001t0006g0014 a0001c0001t0011g0002 a0001c0005t0005g0007 others(2): Show a0001c0001t0006g0014 a0001c0001t0011g0002 a0001c0005t0005g0007 a0001c0005t0005g0076 a0001c0005t0005g0084	5	102	0.0490	-16	c.335 others(37): Show c.3356-15242_3356-15227delATTCATTCATTCCTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116502730	GGAATGAA others(9): Show GGAATGAATGAATGAAT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19043.hp2 HG02809.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0095 a0001c0001t0001g0015 a0001c0001t0001g0095	2	102	0.0196	-16	c.335 others(37): Show c.3356-15246_3356-15231delATTCATTCATTCATTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116530094	GATATATA others(9): Show GATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0086 a0001c0001t0009g0086	1	102	0.0098	-16	c.335 others(37): Show c.3356-42610_3356-42595delATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116530136	TATATATA others(9): Show TATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19030.hp2 HG02965.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0018 a0001c0001t0006g0079 a0001c0001t0002g0018 a0001c0001t0006g0079	2	102	0.0196	-16	c.335 others(37): Show c.3356-42652_3356-42637delTTATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565215	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01258.hp2 others(8): Show HG00099.hp1 HG01099.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01934.hp2 HG02698.hp1 HG04199.hp2 NA18959.hp2 NA19010.hp2 NA20752.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0005c0015 a0006c0020 a0007c0018	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003 a0005c0015t0003 a0006c0020t0001 a0007c0018t0003	a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0002t0001g0067 others(8): Show a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0002t0001g0067 a0001c0002t0003g0021 a0001c0002t0003g0041 a0001c0002t0003g0066 a0001c0002t0004g0029 a0001c0003t0003g0030 a0005c0015t0003g0019 a0006c0020t0001g0039 a0007c0018t0003g0031	11	102	0.1078	-16	c.335 others(37): Show c.3355+53093_3355+53108delGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565377	CTCTCTCT others(9): Show CTCTCTCTCTCCATATA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03139.hp2 HG02615.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0007 a0001c0001t0007 a0001c0003t0007	a0001c0001t0007g0078 a0001c0003t0007g0071 a0001c0001t0007g0078 a0001c0003t0007g0071	2	102	0.0196	-16	c.335 others(37): Show c.3355+52931_3355+52946delTATATGGAGAGAGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565383	CTCTCCAT others(9): Show CTCTCCATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	102	0.0098	-16	c.335 others(37): Show c.3355+52925_3355+52940delTATATATATATGGAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565385	CTCCATAT others(9): Show CTCCATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0048 a0001c0005t0005g0048	1	102	0.0098	-16	c.335 others(37): Show c.3355+52923_3355+52938delTATATATATATATGGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565387	CCATATAT others(9): Show CCATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02922.hp1 HG02965.hp2 others(1): Show HG01261.hp1 HG02922.hp1 HG02965.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0005 a0001c0014t0017 a0001c0005t0005 a0001c0014t0017	a0001c0005t0005g0007 a0001c0005t0005g0076 a0001c0005t0005g0084 others(1): Show a0001c0005t0005g0007 a0001c0005t0005g0076 a0001c0005t0005g0084 a0001c0014t0017g0050	4	102	0.0392	-16	c.335 others(37): Show c.3355+52921_3355+52936delTATATATATATATATG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116601915	GAGATTAA others(9): Show GAGATTAAATTGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02451.hp1 others(4): Show HG01891.hp1 HG02109.hp1 HG02451.hp1 HG02809.hp2 HG03209.hp1 HG03471.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0016 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0016 a0001c0003t0001 a0001c0003t0012 a0002c0004t0001 a0002c0004t0005	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0016g0075 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0016g0075 a0001c0003t0001g0038 a0001c0003t0012g0001 a0002c0004t0001g0004 a0002c0004t0005g0006	7	102	0.0686	-16	c.335 others(37): Show c.3355+16393_3355+16408delTTTCTCAATTTAATCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116607670	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02965.hp2 HG01934.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0002 a0001c0014	a0001c0002t0004 a0001c0014t0017 a0001c0002t0004 a0001c0014t0017	a0001c0002t0004g0029 a0001c0014t0017g0050 a0001c0002t0004g0029 a0001c0014t0017g0050	2	102	0.0196	-16	c.335 others(37): Show c.3355+10638_3355+10653delGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116623147	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02572.hp1 others(3): Show HG01109.hp2 HG01884.hp1 HG02572.hp1 HG03041.hp2 HG03130.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(2): Show a0001c0001 a0001c0003 a0001c0013 a0001c0021 a0002c0004	a0001c0001t0006 a0001c0001t0011 a0001c0003t0006 others(3): Show a0001c0001t0006 a0001c0001t0011 a0001c0003t0006 a0001c0013t0009 a0001c0021t0006 a0002c0004t0006	a0001c0001t0006g0014 a0001c0001t0011g0002 a0001c0003t0006g0026 others(3): Show a0001c0001t0006g0014 a0001c0001t0011g0002 a0001c0003t0006g0026 a0001c0013t0009g0072 a0001c0021t0006g0056 a0002c0004t0006g0003	6	102	0.0588	-16	c.307 others(35): Show c.3073-2720_3073-2705delCACACACACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116658089	TTTTTGTT others(9): Show TTTTTGTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02572.hp1 others(2): Show HG01081.hp1 HG01891.hp2 HG02572.hp1 HG02615.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0009 a0001c0002t0002 a0001c0003t0007 others(2): Show a0001c0001t0009 a0001c0002t0002 a0001c0003t0007 a0001c0003t0014 a0001c0013t0009	a0001c0001t0009g0086 a0001c0002t0002g0046 a0001c0003t0007g0071 others(2): Show a0001c0001t0009g0086 a0001c0002t0002g0046 a0001c0003t0007g0071 a0001c0003t0014g0083 a0001c0013t0009g0072	5	102	0.0490	-16	c.280 others(35): Show c.2807-6312_2807-6297delCAAAAACAAAACAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116727013	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19043.hp1 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0007 a0001c0005t0005g0084 a0001c0005t0005g0007 a0001c0005t0005g0084	2	102	0.0196	-16	c.262 others(35): Show c.2627-1079_2627-1064delGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	15/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116783284	TCCTTCCT others(9): Show TCCTTCCTTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01081.hp1 others(20): Show HG00099.hp1 HG00639.hp1 HG01081.hp1 HG01099.hp2 HG01169.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02004.hp1 HG02109.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02809.hp2 HG02886.hp2 HG03017.hp2 HG03209.hp1 HG03540.hp1 NA18906.hp1 NA18959.hp2 NA19066.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0022 a0001c0023 a0001c0025 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0003t0014 a0001c0013t0009 a0001c0022t0001 a0001c0023t0002 a0001c0025t0001 a0002c0004t0006	a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(20): Show a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0100 a0001c0001t0002g0070 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0009g0086 a0001c0001t0016g0075 a0001c0002t0003g0021 a0001c0002t0003g0066 a0001c0002t0004g0029 a0001c0002t0010g0064 a0001c0003t0001g0038 a0001c0003t0005g0082 a0001c0003t0006g0017 a0001c0003t0012g0001 a0001c0003t0014g0083 a0001c0013t0009g0072 a0001c0022t0001g0020 a0001c0023t0002g0069 a0001c0025t0001g0080 a0002c0004t0006g0003	23	102	0.2255	-16	c.239 others(37): Show c.2396+22332_2396+22347delGAGGAAGGAAGGAAGG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790951	AAAGAAAA others(9): Show AAAGAAAAGAAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	102	0.0098	-16	c.239 others(37): Show c.2396+14665_2396+14680delCCTTCTTTCTTTTCTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790966	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp1 HG02109.hp2 others(1): Show HG00639.hp2 HG01169.hp1 HG02109.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0001t0001 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0034 a0001c0001t0001g0100 a0001c0002t0001g0057 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0100 a0001c0002t0001g0057 a0001c0007t0001g0010	4	102	0.0392	-16	c.239 others(37): Show c.2396+14650_2396+14665delTTTCTTTCTTTCTTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116808277	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02809.hp2 HG01081.hp1 HG01891.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0001 a0001c0001t0009 a0001c0001t0016	a0001c0001t0001g0015 a0001c0001t0009g0086 a0001c0001t0016g0075 a0001c0001t0001g0015 a0001c0001t0009g0086 a0001c0001t0016g0075	3	102	0.0294	-16	c.220 others(35): Show c.2208-2473_2208-2458delCACACACACACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116851471	CATCTATC others(9): Show CATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp2 HG01256.hp1 others(19): Show HG00099.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01891.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19065.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0002c0004 a0004c0024 a0005c0015 a0007c0018	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(15): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0012 a0001c0008t0005 a0001c0009t0008 a0001c0013t0009 a0001c0014t0017 a0002c0004t0001 a0002c0004t0005 a0004c0024t0013 a0005c0015t0003 a0007c0018t0003	a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0006g0016 others(19): Show a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0006g0016 a0001c0001t0008g0008 a0001c0002t0001g0036 a0001c0002t0001g0093 a0001c0002t0002g0046 a0001c0002t0004g0043 a0001c0002t0004g0062 a0001c0003t0001g0038 a0001c0003t0003g0030 a0001c0003t0012g0001 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0009t0008g0088 a0001c0013t0009g0072 a0001c0014t0017g0050 a0002c0004t0001g0004 a0002c0004t0005g0006 a0004c0024t0013g0101 a0005c0015t0003g0019 a0007c0018t0003g0031	22	102	0.2157	-16	c.204 others(37): Show c.2040+12096_2040+12111delAGATAGATAGATAGAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016608	ATCTATAT others(9): Show ATCTATATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	1	102	0.0098	-16	c.142 others(35): Show c.1424-8365_1424-8350delGATAGATAGATATAGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060328	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA21309.hp1 HG02572.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0002c0004 a0001c0013 a0002c0004	a0001c0013t0009 a0002c0004t0006 a0001c0013t0009 a0002c0004t0006	a0001c0013t0009g0072 a0002c0004t0006g0003 a0001c0013t0009g0072 a0002c0004t0006g0003	2	102	0.0196	-16	c.127 others(37): Show c.1277-20379_1277-20364delCTCTTTCTTTCTTTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060344	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0007 a0001c0005t0005g0007	1	102	0.0098	-16	c.127 others(37): Show c.1277-20395_1277-20380delTTCTTTCTTTCTTTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117094120	GAGGGAGG others(9): Show GAGGGAGGGAGGGACTA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0024 a0001c0002t0008g0024	1	102	0.0098	-16	c.127 others(35): Show c.1276+1908_1276+1923delTAGTCCCTCCCTCCCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120012	GTGTGTGT others(9): Show GTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0013 a0004c0024t0013	a0004c0024t0013g0101 a0004c0024t0013g0101	1	102	0.0098	-16	c.116 others(37): Show c.1168+21298_1168+21313delTATATATATACACACA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117134289	TATATATA others(9): Show TATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG02451.hp1 others(4): Show HG00735.hp2 HG01081.hp2 HG02451.hp1 HG03017.hp2 NA18959.hp2 NA19012.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0023 a0001c0001 a0001c0002 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0003 a0001c0023t0002	a0001c0001t0001g0028 a0001c0001t0002g0040 a0001c0001t0004g0060 others(4): Show a0001c0001t0001g0028 a0001c0001t0002g0040 a0001c0001t0004g0060 a0001c0001t0008g0008 a0001c0002t0003g0021 a0001c0002t0003g0094 a0001c0023t0002g0069	7	102	0.0686	-16	c.116 others(35): Show c.1168+7021_1168+7036delGTGTGTGTGTATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117144660	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01081.hp2 others(11): Show HG00099.hp1 HG00735.hp2 HG01081.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG02451.hp1 HG02698.hp2 HG03017.hp1 HG03017.hp2 NA18959.hp2 NA19065.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0023 a0004c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0003 a0001c0002t0004 a0001c0008t0005 a0001c0009t0008 a0001c0023t0002 a0004c0024t0013	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0054 others(11): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0002g0040 a0001c0001t0003g0063 a0001c0001t0004g0060 a0001c0001t0008g0008 a0001c0001t0008g0065 a0001c0002t0003g0021 a0001c0002t0004g0047 a0001c0008t0005g0073 a0001c0009t0008g0088 a0001c0023t0002g0069 a0004c0024t0013g0101	14	102	0.1373	-16	c.101 others(35): Show c.1016-3198_1016-3183delAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117188178	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp1 HG01258.hp2 others(15): Show HG00099.hp2 HG01243.hp1 HG01258.hp2 HG01261.hp2 HG01515.hp1 HG01884.hp2 HG02109.hp1 HG02559.hp1 HG02698.hp1 HG02886.hp2 HG02896.hp2 HG03540.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19066.hp1 NA20752.hp1 NA21309.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0022 a0001c0025 a0005c0015 a0007c0018	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0014 a0001c0005t0005 a0001c0006t0002 a0001c0022t0001 a0001c0025t0001 a0005c0015t0003 a0007c0018t0003	a0001c0001t0001g0100 a0001c0001t0007g0087 a0001c0002t0001g0058 others(15): Show a0001c0001t0001g0100 a0001c0001t0007g0087 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0002g0061 a0001c0002t0003g0041 a0001c0002t0004g0043 a0001c0002t0004g0062 a0001c0003t0001g0038 a0001c0003t0003g0030 a0001c0003t0014g0083 a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0006t0002g0012 a0001c0022t0001g0020 a0001c0025t0001g0080 a0005c0015t0003g0019 a0007c0018t0003g0031	18	102	0.1765	-16	c.101 others(37): Show c.1015+26164_1015+26179delGTCTCTCTCTCTCTCT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01884.hp2 HG02886.hp2 others(3): Show HG01515.hp2 HG01884.hp2 HG02886.hp2 HG02896.hp2 NA18906.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0025 a0003c0016	a0001c0001t0001 a0001c0003t0006 a0001c0005t0005 others(3): Show a0001c0001t0001 a0001c0003t0006 a0001c0005t0005 a0001c0006t0002 a0001c0025t0001 a0003c0016t0004	a0001c0001t0001g0100 a0001c0003t0006g0017 a0001c0005t0005g0007 others(3): Show a0001c0001t0001g0100 a0001c0003t0006g0017 a0001c0005t0005g0007 a0001c0006t0002g0012 a0001c0025t0001g0080 a0003c0016t0004g0027	6	102	0.0588	-16	c.631 others(35): Show c.631-10809_631-10794delTATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117406857	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01884.hp2 others(5): Show HG00639.hp1 HG01081.hp1 HG01884.hp2 HG02559.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014 a0001c0025	a0001c0001t0007 a0001c0001t0009 a0001c0003t0004 others(5): Show a0001c0001t0007 a0001c0001t0009 a0001c0003t0004 a0001c0003t0005 a0001c0003t0014 a0001c0005t0005 a0001c0014t0017 a0001c0025t0001	a0001c0001t0007g0087 a0001c0001t0009g0086 a0001c0003t0004g0085 others(5): Show a0001c0001t0007g0087 a0001c0001t0009g0086 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0003t0014g0083 a0001c0005t0005g0084 a0001c0014t0017g0050 a0001c0025t0001g0080	8	102	0.0784	-16	c.442 others(33): Show c.442+7624_442+7639delGTGTGTGTGTGTGTGT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32354105	TTGGTAAT others(9): Show TTGGTAATTTAAACACG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	282	0.0036	-16	c.-46 others(27): Show c.-4670_-4655delTGGTAATTTAAACACG	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding		4225		chr20	TogoVar
ASXL2_chr2_25728753_25883487	25744935	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 NA20300.hp2 HG01243.hp1 HG02257.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100	3	222	0.0135	-16	c.186 others(33): Show c.1861-475_1861-460delTGTGTGTGTGTGTGTG	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	12/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25784053	CTAAATAA others(9): Show CTAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0060 a0002c0002t0006g0060	1	222	0.0045	-16	c.404 others(35): Show c.404-12529_404-12514delTTTATTTATTTATTTA	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12			chr2	TogoVar
ASXL2_chr2_25728753_25883487	25822161	GATAATAA others(9): Show GATAATAAAAGGTAAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00423.hp2 others(81): Show HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 NA18522.hp1 NA18941.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18972.hp1 NA18975.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA20905.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0001c0011 a0001c0012 others(4): Show a0001c0001 a0001c0011 a0001c0012 a0002c0002 a0002c0003 a0007c0010 a0009c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(22): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0049 a0001c0001t0050 a0001c0011t0003 a0001c0012t0032 a0002c0002t0006 a0002c0002t0021 a0002c0003t0008 a0007c0010t0013 a0009c0013t0006	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(81): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0051 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218 a0001c0001t0009g0022 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0043 a0001c0001t0011g0064 a0001c0001t0011g0065 a0001c0001t0011g0066 a0001c0001t0011g0067 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0014g0020 a0001c0001t0014g0048 a0001c0001t0014g0072 a0001c0001t0015g0054 a0001c0001t0015g0062 a0001c0001t0015g0063 a0001c0001t0016g0001 a0001c0001t0016g0002 a0001c0001t0016g0069 a0001c0001t0017g0003 a0001c0001t0017g0004 a0001c0001t0017g0005 a0001c0001t0019g0219 a0001c0001t0019g0220 a0001c0001t0020g0030 a0001c0001t0020g0049 a0001c0001t0026g0036 a0001c0001t0026g0037 a0001c0001t0036g0040 a0001c0001t0037g0019 a0001c0001t0038g0041 a0001c0001t0049g0007 a0001c0001t0050g0006 a0001c0011t0003g0034 a0001c0012t0032g0016 a0002c0002t0006g0053 a0002c0002t0006g0055 a0002c0002t0006g0056 a0002c0002t0006g0060 a0002c0002t0006g0061 a0002c0002t0021g0058 a0002c0002t0021g0059 a0002c0003t0008g0075 a0002c0003t0008g0076 a0002c0003t0008g0077 a0002c0003t0008g0078 a0002c0003t0008g0079 a0007c0010t0013g0008 a0009c0013t0006g0057	84	222	0.3784	-16	c.143 others(35): Show c.143+13361_143+13376delTTTTACCTTTTATTAT	ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	3/12			chr2	TogoVar
ASXL3_chr18_33573219_33756195	33678077	ATTATTTA others(9): Show ATTATTTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02055.hp2 HG02109.hp2 others(10): Show HG00673.hp2 HG02055.hp2 HG02109.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG03239.hp1 HG03579.hp2 NA18943.hp2 NA18971.hp1 NA18975.hp1 NA19076.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0027 a0001c0001t0029 a0002c0002t0003 a0002c0002t0005	a0001c0001t0001g0071 a0001c0001t0004g0066 a0001c0001t0004g0103 others(10): Show a0001c0001t0001g0071 a0001c0001t0004g0066 a0001c0001t0004g0103 a0001c0001t0004g0141 a0001c0001t0004g0146 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0027g0034 a0001c0001t0029g0029 a0002c0002t0003g0133 a0002c0002t0005g0147 a0002c0002t0005g0168	13	220	0.0591	-16	c.716 others(33): Show c.716-5309_716-5294delATTTATTTATTTATTT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33713232	TTTTTTGT others(9): Show TTTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	220	0.0046	-16	c.880 others(35): Show c.880-18730_880-18715delGTTTTGTTTTGTTTTT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASZ1_chr7_117358222_117432493	117372645	TAAAGGTA others(9): Show TAAAGGTATTTATAAGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG03041.hp2 others(3): Show HG01891.hp1 HG02145.hp2 HG03041.hp2 HG03209.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(3): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195	6	306	0.0196	-16	c.105 others(35): Show c.1056-3944_1056-3929delGCTTATAAATACCTTT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ASZ1_chr7_117358222_117432493	117379133	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02559.hp2 others(1): Show HG02258.hp1 HG02280.hp1 HG02559.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0003c0004t0001g0063 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0003c0004t0001g0063 a0003c0004t0001g0067	4	306	0.0131	-16	c.105 others(33): Show c.1055+789_1055+804delTATATATATATATATA	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ATAD2B_chr2_23743664_23932123	23745368	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01069.hp2 others(2): Show HG00140.hp1 HG00323.hp2 HG01069.hp2 HG01099.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105	5	246	0.0203	-16	c.66 others(27): Show c.6662_*6677delCTTCCTTCCTTCCTTC	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3295		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23760695	TATATACA others(9): Show TATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	246	0.0041	-16	c.339 others(35): Show c.3394+1498_3394+1513delGTGTGTGTGTGTATAT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	24/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23811014	AAAACAAA others(9): Show AAAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01074.hp2 others(21): Show HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01243.hp1 HG01257.hp2 HG01433.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02818.hp1 HG02886.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 NA18986.hp2 NA19086.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012	a0001c0001t0003g0007 a0001c0001t0003g0107 a0001c0001t0003g0224 others(21): Show a0001c0001t0003g0007 a0001c0001t0003g0107 a0001c0001t0003g0224 a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0245 a0001c0002t0007g0243 a0001c0002t0007g0244 a0001c0002t0012g0233	24	246	0.0976	-16	c.226 others(33): Show c.2268-528_2268-513delGTTTGTTTGTTTGTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	17/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23844487	CAATATTA others(9): Show CAATATTAGAATTGCCA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01074.hp2 others(20): Show HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01243.hp1 HG01257.hp2 HG01433.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02818.hp1 HG02886.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 NA18986.hp2 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012	a0001c0001t0003g0107 a0001c0001t0003g0224 a0001c0002t0001g0238 others(20): Show a0001c0001t0003g0107 a0001c0001t0003g0224 a0001c0002t0001g0238 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0245 a0001c0002t0007g0243 a0001c0002t0007g0244 a0001c0002t0012g0233	23	246	0.0935	-16	c.156 others(37): Show c.1569-10425_1569-10410delTGGCAATTCTAATATT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	13/27			chr2	TogoVar
ATAD3A_chr1_1507162_1539685	1518603	CCACACAC others(9): Show CCACACACGGGCGTACA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0335 a0008c0010t0001g0335	1	420	0.0024	-16	c.445 others(31): Show c.445-314_445-299delACACGGGCGTACACAC	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD5_chr17_30826966_30900869	30850815	ATTTATAT others(9): Show ATTTATATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp2 HG02572.hp1 HG02896.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0006 a0005c0005t0001 a0005c0005t0006	a0005c0005t0001g0071 a0005c0005t0006g0074 a0005c0005t0001g0071 a0005c0005t0006g0074	2	286	0.0070	-16	c.245 others(35): Show c.2451-4320_2451-4305delTTATATATTTTTATAT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30850831	TTTTATAT others(9): Show TTTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0120 a0006c0006t0001g0120	1	286	0.0035	-16	c.245 others(35): Show c.2451-4310_2451-4295delTTATATATATATATAT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30850857	ATATATAT others(9): Show ATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp1 HG01069.hp1 HG01071.hp2 HG01175.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0103 a0003c0003t0004g0108 a0003c0003t0004g0112 a0003c0003t0004g0103 a0003c0003t0004g0108 a0003c0003t0004g0112	3	286	0.0105	-16	c.245 others(35): Show c.2451-4284_2451-4269delATATATATATATTTTT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30850859	ATATATAT others(9): Show ATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0080 a0003c0003t0004g0080	1	286	0.0035	-16	c.245 others(35): Show c.2451-4282_2451-4267delATATATATATTTTTTT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATAD5_chr17_30826966_30900869	30886372	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG00642.hp2 others(62): Show HG00544.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01081.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18968.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0012 a0002c0019 others(1): Show a0002c0002 a0002c0012 a0002c0019 a0006c0009	a0002c0002t0002 a0002c0002t0009 a0002c0002t0019 others(3): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0019 a0002c0012t0002 a0002c0019t0013 a0006c0009t0001	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 others(60): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0009g0031 a0002c0002t0009g0061 a0002c0002t0019g0035 a0002c0012t0002g0012 a0002c0019t0013g0065 a0006c0009t0001g0081	65	286	0.2273	-16	c.407 others(33): Show c.4078-792_4078-777delATTTATTTATTTATTT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATCAY_chr19_3875685_3933082	3879497	AAAAAAAA others(9): Show AAAAAAAAAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01074.hp1 others(11): Show HG00099.hp1 HG00741.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01496.hp1 HG01515.hp2 HG02630.hp2 HG02965.hp1 HG03486.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0026 a0001c0001t0001g0060 a0001c0001t0001g0078 others(11): Show a0001c0001t0001g0026 a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0340 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0003g0059 a0001c0001t0003g0065 a0001c0001t0003g0073 a0001c0001t0019g0072 a0001c0001t0019g0162	14	384	0.0365	-16	c.-15 others(27): Show c.-1552_-1537delAAAAAAAAAAAGAAAG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding		1187		chr19	TogoVar

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