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
DUSP14_chr17_37484891_37518498	37509107	A A	ATATATAT others(11): Show ATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03579.hp2 HG04199.hp1 others(1): Show HG02970.hp2 HG03579.hp2 HG04199.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0353 a0001c0001t0001g0384 a0001c0001t0001g0018 a0001c0001t0001g0353 a0001c0001t0001g0384	4	421	0.0095	18	c.-18 others(37): Show c.-180-1559_-180-1558insGTGTGTGTATATATATAT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP14_chr17_37484891_37518498	37511585	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19240.hp2 HG02717.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0005g0283 a0001c0001t0005g0285	2	421	0.0048	18	c.-92 others(33): Show c.-92-595_-92-578dupTTTTTTTTTTTTTTTTTT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP14_chr17_37484891_37518498	37511937	A A	AGTTTTTT others(11): Show AGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp2 others(36): Show HG00140.hp1 HG00639.hp1 HG00642.hp2 HG01099.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp2 HG02698.hp1 HG04115.hp1 NA18906.hp2 NA18941.hp2 NA18945.hp1 NA18951.hp2 NA18960.hp1 NA18970.hp1 NA18972.hp2 NA18986.hp1 NA18991.hp2 NA19009.hp1 NA19060.hp1 NA19072.hp2 NA19085.hp2 NA20300.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0002 a0001c0001t0002 a0003c0005t0002	a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0022 others(32): Show a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0300 a0003c0005t0002g0301	39	421	0.0926	18	c.-92 others(33): Show c.-92-244_-92-243insGTTTTTTTTTTTTTTTTT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	2/2			chr17	TogoVar
DUSP15_chr20_31856077_31875527	31873820	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01433.hp2 HG01123.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	378	0.0053	18	c.-34 others(29): Show c.-3484_-3483insTTCTTTCTTTCTTTCTTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3294		chr20	TogoVar
DUSP15_chr20_31856077_31875527	31873824	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02630.hp1 others(4): Show HG01109.hp1 HG02451.hp1 HG02630.hp1 HG02896.hp1 HG03486.hp2 HG03540.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0037 a0002c0002t0001g0103 a0002c0002t0001g0007 a0002c0002t0001g0037 a0002c0002t0001g0103	7	378	0.0185	18	c.-35 others(29): Show c.-3505_-3488dupTTCTTTCTTTCTTTCTTT	DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding		3298		chr20	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01975.hp2 HG02451.hp1 others(8): Show HG01952.hp2 HG01975.hp2 HG02451.hp1 HG02622.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 NA18962.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0025 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0025 a0001c0001t0063 a0002c0002t0003 a0002c0003t0020 a0002c0003t0064	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(8): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0010g0338 a0001c0001t0025g0015 a0001c0001t0063g0335 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0003t0020g0334 a0002c0003t0020g0336 a0002c0003t0064g0337	11	352	0.0313	18	c.-36 others(37): Show c.-366+1153_-366+1170dupTGTGTGTGTGTGTGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP18_chr22_30656445_30672875	30669675	C C	CATATATA others(11): Show CATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03225.hp2 NA19240.hp2 others(1): Show HG02976.hp1 HG03225.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0001 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0002 a0001c0001t0004g0185 a0001c0001t0004g0186 others(1): Show a0001c0001t0001g0002 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0019g0190	4	448	0.0089	18	c.-22 others(29): Show c.-2292_-2291insATATATATATATATATAT	DUSP18	ENSG00000167065.14	transcript	ENST00000334679.4	protein_coding		1801		chr22	TogoVar
DUSP22_chr6_287487_356355	309679	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	221	0.0045	18	c.56- others(33): Show c.56-2179_56-2162dupCACACACACACACACACA	DUSP22	ENSG00000112679.15	transcript	ENST00000419235.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
DUSP26_chr8_33586330_33605023	33597882	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01255.hp1 others(31): Show HG00099.hp1 HG00558.hp1 HG01255.hp1 HG01346.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02273.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03195.hp1 HG03471.hp1 HG03669.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18945.hp2 NA18946.hp2 NA18955.hp2 NA18963.hp2 NA18969.hp2 NA18978.hp1 NA19006.hp1 NA19060.hp1 NA19066.hp2 NA19085.hp2 NA19089.hp2 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0031 a0001c0001t0001g0081 a0001c0001t0001g0082 others(13): Show a0001c0001t0001g0031 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0002g0005 a0001c0001t0002g0045 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0005g0021 a0001c0001t0005g0129	34	420	0.0810	18	c.-76 others(33): Show c.-76-309_-76-292dupGTGTGTGTGTGTGTGTGT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar
DUSP29_chr10_75032472_75078642	75074303	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	368	0.0027	18	c.-77 others(27): Show c.-770_-769insATATATATATATATATAT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		662		chr10	TogoVar
DUSP8_chr11_1549051_1577271	1551372	C C	CCACCAAC others(11): Show CCACCAACACACAAACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	367	0.0027	18	c.51 others(29): Show c.5145_*5146insTGGGTTTGTGTGTTGGTG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2678		chr11	TogoVar
DUXA_chr19_57149021_57172485	57161324	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG01952.hp1 others(28): Show HG00621.hp1 HG00738.hp1 HG01952.hp1 HG01981.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG06807.hp1 NA18950.hp1 NA18967.hp2 NA18978.hp2 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA19058.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0073 a0001c0001t0001g0075 others(26): Show a0001c0001t0001g0007 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0278 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0309 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0360	31	446	0.0695	18	c.26- others(31): Show c.26-545_26-528dupTTTTTTTTTTTTTTTTTT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57165320	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	446	0.0022	18	c.25+ others(33): Show c.25+2098_25+2099insATATATATATATATATAT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGGCG others(11): Show GGGGGGCGCGCGAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	446	0.0022	18	c.-46 others(29): Show c.-4629_-4628insGCCCCCTCGCGCGCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172116	A A	AGGGGGCG others(11): Show AGGGGGCGGGGCGTGCGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	446	0.0022	18	c.-46 others(29): Show c.-4674_-4673insCTCGCACGCCCCGCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4632		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172117	G G	GGGGGGCG others(11): Show GGGGGGCGGGGGCGCGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	446	0.0022	18	c.-46 others(29): Show c.-4675_-4674insTCGCGCGCCCCCGCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4633		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172133	A A	AGGGGGCG others(11): Show AGGGGGCGGGGCGCGCGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	446	0.0022	18	c.-46 others(29): Show c.-4691_-4690insCTCGCGCGCCCCGCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4649		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172156	C C	CGGGGCGC others(11): Show CGGGGCGCGCGAGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 NA18971.hp2 NA19084.hp2 HG01361.hp2 NA18971.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0223 a0001c0001t0001g0004 a0001c0001t0002g0223	3	446	0.0067	18	c.-47 others(29): Show c.-4714_-4713insCGCCCCCTCGCGCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4672		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172173	C C	CGGGGCGC others(11): Show CGGGGCGCGCGAGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18952.hp2 NA18941.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0002g0054 a0001c0001t0001g0036 a0001c0001t0002g0054	2	446	0.0045	18	c.-47 others(29): Show c.-4731_-4730insCGCCCCCTCGCGCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4689		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172190	C C	CGGGGCGC others(11): Show CGGGGCGCGCGAGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	446	0.0022	18	c.-47 others(29): Show c.-4748_-4747insCGCCCCCTCGCGCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4706		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172207	C C	CGGGGCGC others(11): Show CGGGGCGCGCGAGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	446	0.0022	18	c.-47 others(29): Show c.-4765_-4764insCGCCCCCTCGCGCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4723		chr19	TogoVar
DVL2_chr17_7220342_7239517	7233087	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp1 others(16): Show HG00323.hp2 HG00639.hp1 HG01069.hp1 HG01081.hp2 HG01167.hp2 HG01433.hp1 HG01993.hp2 HG02083.hp2 HG02148.hp2 HG03490.hp1 NA18941.hp1 NA18951.hp2 NA18972.hp1 NA18997.hp2 NA19004.hp1 NA19011.hp1 NA19057.hp1 NA19074.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0001 a0001c0002t0001 a0001c0019t0001 a0001c0001t0001 a0001c0002t0001 a0001c0019t0001	a0001c0001t0001g0126 a0001c0002t0001g0004 a0001c0002t0001g0125 others(3): Show a0001c0001t0001g0126 a0001c0002t0001g0004 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0019t0001g0124	19	406	0.0468	18	c.194 others(33): Show c.194+964_194+981dupTTTTTTTTTTTTTTTTTT	DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/14			chr17	TogoVar
DVL3_chr3_184150377_184178614	184161717	C C	CACTCTCC others(11): Show CACTCTCCACATAGACCCA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	400	0.0025	18	c.162 others(35): Show c.162-1940_162-1939insACTCTCCACATAGACCCA	DVL3	ENSG00000161202.20	transcript	ENST00000313143.9	protein_coding	1/14			chr3	TogoVar
DYDC1_chr10_80331105_80361755	80346444	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19030.hp2 HG02630.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	2	366	0.0055	18	c.250 others(35): Show c.250-4101_250-4084dupAAAAAAAAAAAAAAAAAA	DYDC1	ENSG00000170788.14	transcript	ENST00000372202.6	protein_coding	3/6			chr10	TogoVar
DYM_chr18_49031387_49465645	49060628	G G	GGGGGGAG others(11): Show GGGGGGAGAGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp2 HG02572.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0146 a0001c0001t0001g0147	2	290	0.0069	18	c.202 others(39): Show c.2026-16442_2026-16425dupTCTCCCCCTCTCTCCCCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49080150	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19009.hp2 NA18954.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0179 a0001c0001t0012g0211 a0001c0001t0002g0179 a0001c0001t0012g0211	2	290	0.0069	18	c.202 others(39): Show c.2025+17251_2025+17252insCCCCCCCCCCCCCCCCCC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49083529	G G	GGTAGCAT others(11): Show GGTAGCATTCCTTTTTCTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	290	0.0035	18	c.202 others(39): Show c.2025+13872_2025+13873insTAGAAAAAGGAATGCTAC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49145108	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00642.hp1 others(13): Show HG00408.hp2 HG00423.hp1 HG00642.hp1 HG01071.hp1 HG01109.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp2 HG02486.hp1 HG02572.hp2 HG02922.hp2 HG03041.hp2 HG03704.hp2 NA18950.hp2 NA18952.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0018 a0001c0001t0031 a0001c0002t0001 a0004c0008t0005	a0001c0001t0001g0052 a0001c0001t0001g0147 a0001c0001t0003g0256 others(13): Show a0001c0001t0001g0052 a0001c0001t0001g0147 a0001c0001t0003g0256 a0001c0001t0005g0121 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0269 a0001c0001t0010g0145 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0018g0143 a0001c0001t0031g0114 a0001c0002t0001g0151 a0004c0008t0005g0263	16	290	0.0552	18	c.172 others(39): Show c.1728+18559_1728+18576dupATATATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49145134	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03516.hp1 HG03654.hp1 others(6): Show HG00323.hp2 HG03516.hp1 HG03654.hp1 HG04199.hp1 NA18982.hp2 NA18984.hp2 NA19043.hp2 NA19068.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0033 a0001c0003t0009 a0001c0003t0026	a0001c0001t0001g0220 a0001c0001t0002g0216 a0001c0001t0002g0281 others(6): Show a0001c0001t0001g0220 a0001c0001t0002g0216 a0001c0001t0002g0281 a0001c0001t0003g0167 a0001c0001t0003g0174 a0001c0001t0004g0118 a0001c0001t0033g0280 a0001c0003t0009g0005 a0001c0003t0026g0001	9	290	0.0310	18	c.172 others(39): Show c.1728+18550_1728+18551insTTATATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49252216	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp2 HG02723.hp1 others(4): Show HG01109.hp1 HG01433.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0029	a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0217 others(4): Show a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0003g0255 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0029g0260	7	290	0.0241	18	c.146 others(37): Show c.1460+4776_1460+4793dupTTTTTTTTTTTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49254325	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	290	0.0035	18	c.146 others(37): Show c.1460+2684_1460+2685insGTGTATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49254325	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02135.hp2 HG02132.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0011 a0001c0001t0008g0012	2	290	0.0069	18	c.146 others(37): Show c.1460+2684_1460+2685insGTATATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49289746	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	290	0.0035	18	c.764 others(35): Show c.764-3131_764-3130insGTGTATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49292355	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	290	0.0035	18	c.764 others(35): Show c.764-5757_764-5740dupGTGTGTGTGTGTGTGTGT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317551	T T	TTGTCTCT others(11): Show TTGTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18946.hp2 NA18994.hp2 others(1): Show NA18943.hp2 NA18946.hp2 NA18994.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0206 others(1): Show a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0206 a0001c0001t0002g0218	4	290	0.0138	18	c.763 others(37): Show c.763+14312_763+14313insGAGAGAGAGAGAGAGACA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(11): Show CTCCTCTCCTCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0005 a0001c0003t0009g0005	1	290	0.0035	18	c.763 others(37): Show c.763+14217_763+14218insAGGAAGGAGAGGAGAGGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102047637	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0269 a0001c0010t0010g0269	1	280	0.0036	18	c.130 others(37): Show c.13007-179_13007-178insATATATATATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	280	0.0036	18	c.130 others(37): Show c.13007-175_13007-174insGTGTGTATATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0063 a0001c0031t0063	a0001c0031t0063g0276 a0001c0031t0063g0276	1	280	0.0036	18	c.130 others(37): Show c.13007-175_13007-174insGTGTGTGTATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	230	0.0044	18	c.315 others(35): Show c.315-4095_315-4078dupATATATATATATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95936954	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19043.hp1 NA18990.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0065 a0001c0003t0001g0205 a0001c0001t0001g0065 a0001c0003t0001g0205	2	230	0.0087	18	c.491 others(37): Show c.491-40557_491-40556insACACACACACACACACAC	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95936956	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	230	0.0044	18	c.491 others(37): Show c.491-40539_491-40522dupCACACACACACACACACA	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95936956	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG01884.hp1 others(5): Show HG00642.hp2 HG01243.hp2 HG01884.hp1 HG02071.hp1 HG02630.hp2 HG02647.hp1 NA18988.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0122 others(5): Show a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0122 a0001c0001t0001g0210 a0001c0001t0002g0090 a0001c0002t0001g0032 a0001c0002t0001g0092 a0001c0003t0001g0206	8	230	0.0348	18	c.491 others(37): Show c.491-40555_491-40554insTCACACACACACACACAC	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95936956	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	230	0.0044	18	c.491 others(37): Show c.491-40555_491-40554insTCTCACACACACACACAC	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95986023	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03471.hp2 NA18981.hp1 others(1): Show HG03453.hp2 HG03471.hp2 NA18981.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0001c0001t0001 a0001c0002t0001 a0002c0005t0001	a0001c0001t0001g0162 a0001c0002t0001g0017 a0001c0002t0001g0060 others(1): Show a0001c0001t0001g0162 a0001c0002t0001g0017 a0001c0002t0001g0060 a0002c0005t0001g0035	4	230	0.0174	18	c.744 others(34): Show c.744-1010_744-993dupGTGTGTGTGTGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96100650	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(18): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG01070.hp1 HG01074.hp2 HG01358.hp1 HG02132.hp1 HG02965.hp2 HG03540.hp1 HG03834.hp1 HG03834.hp2 NA18747.hp2 NA18943.hp2 NA18952.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0024 others(18): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0002t0001g0061 a0001c0002t0001g0137 a0001c0002t0001g0152 a0001c0003t0001g0048	21	230	0.0913	18	c.30 others(29): Show c.3057_*3058insTGTGTGTGTGTGTGTGTG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding		2227		chr7	TogoVar
DYNC2H1_chr11_103104426_103484863	103309168	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02040.hp1 HG02056.hp1 HG01071.hp2 HG02040.hp1 HG02056.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0001 a0007c0013t0001 a0001c0001t0001 a0007c0013t0001	a0001c0001t0001g0130 a0001c0001t0001g0144 a0007c0013t0001g0073 a0001c0001t0001g0130 a0001c0001t0001g0144 a0007c0013t0001g0073	3	262	0.0115	18	c.114 others(39): Show c.11493+1344_11493+1361dupTTTTTTTTTTTTTTTTTT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	78/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103446037	T T	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0048 a0001c0006t0001g0048	1	262	0.0038	18	c.124 others(39): Show c.12457-9134_12457-9117dupGTTGTTGTTGTTGTTGTT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103453615	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 NA18522.hp2 HG02055.hp1 HG02630.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0027 a0001c0005 a0002c0027	a0001c0005t0001 a0002c0027t0001 a0001c0005t0001 a0002c0027t0001	a0001c0005t0001g0136 a0001c0005t0001g0140 a0002c0027t0001g0223 a0001c0005t0001g0136 a0001c0005t0001g0140 a0002c0027t0001g0223	3	262	0.0115	18	c.124 others(39): Show c.12457-1561_12457-1544dupTATATATATATATATATA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103453641	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0216 a0006c0012t0001g0216	1	262	0.0038	18	c.124 others(39): Show c.12457-1544_12457-1543insTATATATATATATATACA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88		INFO_REALIGN_3_PRIME	chr11	TogoVar

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