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	37509104	C C	CCATATAT others(14): Show CCATATATATATATATGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01168.hp1 others(13): Show HG00408.hp1 HG00609.hp1 HG01168.hp1 HG01496.hp1 HG01934.hp1 HG01993.hp1 HG02129.hp1 HG02486.hp1 HG03704.hp2 HG04115.hp2 NA18522.hp1 NA18944.hp1 NA18990.hp2 NA19002.hp2 NA19068.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0215 a0001c0001t0001g0224 others(12): Show a0001c0001t0001g0015 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0338 a0001c0001t0001g0378 a0001c0001t0001g0383 a0001c0001t0002g0274	16	421	0.0380	21	c.-18 others(40): Show c.-180-1573_-180-1572insCATATATATATATATGTGTGT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2			chr17	TogoVar
DUSP14_chr17_37484891_37518498	37511937	A A	AGTTTTTT others(14): Show AGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG02280.hp2 others(2): Show HG01192.hp2 HG01243.hp1 HG02280.hp2 HG02738.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0182 a0001c0001t0002g0188 others(2): Show a0001c0001t0002g0161 a0001c0001t0002g0182 a0001c0001t0002g0188 a0001c0001t0002g0372 a0001c0001t0002g0374	5	421	0.0119	21	c.-92 others(36): Show c.-92-244_-92-243insGTTTTTTTTTTTTTTTTTTTT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	2/2			chr17	TogoVar
DUSP26_chr8_33586330_33605023	33590730	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	420	0.0024	21	c.12 others(32): Show c.1282_*1283insAAAAAAAAAAAAAAAAAAAAA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		599		chr8	TogoVar
DUT_chr15_48326429_48348373	48346963	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	388	0.0026	21	c.48 others(32): Show c.4885_*4886insTTTTTTTTTTTTTTTTTTTTT	DUT	ENSG00000128951.14	transcript	ENST00000331200.8	protein_coding		3591		chr15	TogoVar
DUXA_chr19_57149021_57172485	57165322	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG04228.hp1 HG00738.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0002g0083 a0001c0001t0001g0082 a0001c0001t0002g0083	2	446	0.0045	21	c.25+ others(36): Show c.25+2096_25+2097insATATATATATATATATATATA	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	446	0.0022	21	c.25+ others(36): Show c.25+2094_25+2095insATATATATATATATATATATA	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57171925	G G	GGGGGGGC others(14): Show GGGGGGGCGCGAGCGGGGGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	446	0.0022	21	c.-44 others(32): Show c.-4483_-4482insGGACCCCCGCTCGCGCCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4441		chr19	TogoVar
DUXA_chr19_57149021_57172485	57171965	C C	CGGGGCCG others(14): Show CGGGGCCGCGAGCGGGGGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 NA18985.hp1 HG02080.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0002g0110 a0001c0001t0001g0085 a0001c0001t0002g0110	2	446	0.0045	21	c.-45 others(32): Show c.-4523_-4522insCGGACCCCCGCTCGCGGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4481		chr19	TogoVar
DVL1_chr1_1330278_1354418	1333950	G G	GGCTGGTG others(14): Show GGCTGGTGGTGCTGCTGGCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	344	0.0029	21	c.21 others(32): Show c.2171_*2191dupATGGCCAGCAGCACCACCAGC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1327		chr1	TogoVar
DVL1_chr1_1330278_1354418	1337868	G G	GGGGGTGG others(14): Show GGGGGTGGAGCAGCAGCGGGGT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	344	0.0029	21	c.171 others(37): Show c.1714+88_1714+108dupACCCCGCTGCTGCTCCACCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding	14/14			chr1	TogoVar
DVL2_chr17_7220342_7239517	7233087	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01496.hp2 HG02109.hp2 others(5): Show HG00438.hp1 HG01496.hp2 HG02109.hp2 HG02135.hp2 HG02615.hp1 HG02809.hp1 NA18952.hp2 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 a0001c0002 a0001c0003 a0001c0009	a0001c0002t0001 a0001c0003t0002 a0001c0009t0002 a0001c0002t0001 a0001c0003t0002 a0001c0009t0002	a0001c0002t0001g0042 a0001c0002t0001g0143 a0001c0003t0002g0043 others(3): Show a0001c0002t0001g0042 a0001c0002t0001g0143 a0001c0003t0002g0043 a0001c0003t0002g0144 a0001c0009t0002g0145 a0001c0009t0002g0146	8	406	0.0197	21	c.194 others(36): Show c.194+981_194+982insTTTTTTTTTTTTTTTTTTTTT	DVL2	ENSG00000004975.12	transcript	ENST00000005340.10	protein_coding	1/14			chr17	TogoVar
DYDC1_chr10_80331105_80361755	80346444	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG02622.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	366	0.0055	21	c.250 others(38): Show c.250-4104_250-4084dupAAAAAAAAAAAAAAAAAAAAA	DYDC1	ENSG00000170788.14	transcript	ENST00000372202.6	protein_coding	3/6			chr10	TogoVar
DYM_chr18_49031387_49465645	49195916	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0277 a0001c0003t0027g0277	1	290	0.0035	21	c.162 others(42): Show c.1625+13614_1625+13634dupAAAAAAAAAAAAAAAAAAAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49252216	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG04199.hp2 HG01884.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0025 a0001c0001t0005 a0001c0003t0025	a0001c0001t0005g0265 a0001c0003t0025g0278 a0001c0001t0005g0265 a0001c0003t0025g0278	2	290	0.0069	21	c.146 others(40): Show c.1460+4773_1460+4793dupTTTTTTTTTTTTTTTTTTTTT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317597	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0278 a0001c0003t0025g0278	1	290	0.0035	21	c.763 others(40): Show c.763+14266_763+14267insAGAGAGAGAGAGAGAGAGAGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440548	T T	TTATATAT others(14): Show TTATATATGACTATATATTATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	290	0.0035	21	c.-53 others(40): Show c.-53-10102_-53-10101insTATAATATATAGTCATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1I1_chr7_95767554_96103424	96100650	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	230	0.0044	21	c.30 others(32): Show c.3057_*3058insGTGTGTGTGTGTGTGTGTGTG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding		2227		chr7	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(14): Show ATGTGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp2 HG02135.hp1 others(1): Show HG00609.hp1 HG02040.hp2 HG02135.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0001g0299 others(1): Show a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300	4	336	0.0119	21	c.108 others(38): Show c.1080+505_1080+506insATATATATATATATATACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32532480	A A	ATGTGTAT others(14): Show ATGTGTATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01496.hp1 HG01952.hp2 others(1): Show HG01070.hp2 HG01496.hp1 HG01952.hp2 NA18984.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0003 a0008c0008t0003 a0001c0001t0003 a0008c0008t0003	a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 others(1): Show a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0008c0008t0003g0022	4	336	0.0119	21	c.108 others(38): Show c.1080+505_1080+506insATATATATATATACATACACA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	8/12			chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103288684	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02148.hp2 HG02683.hp1 others(2): Show HG02056.hp2 HG02148.hp2 HG02683.hp1 NA18955.hp2 NA19081.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0006 a0002c0003 a0007c0013 a0001c0006 a0002c0003 a0007c0013	a0001c0006t0001 a0002c0003t0001 a0007c0013t0001 a0001c0006t0001 a0002c0003t0001 a0007c0013t0001	a0001c0006t0001g0048 a0002c0003t0001g0019 a0002c0003t0001g0040 others(2): Show a0001c0006t0001g0048 a0002c0003t0001g0019 a0002c0003t0001g0040 a0007c0013t0001g0082 a0007c0013t0001g0093	5	262	0.0191	21	c.110 others(42): Show c.11095+1085_11095+1105dupAAAAAAAAAAAAAAAAAAAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	75/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103309168	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18966.hp2 NA18989.hp2 others(3): Show NA18945.hp1 NA18966.hp2 NA18989.hp2 NA19010.hp1 NA19068.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 a0001c0001 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0006t0001 a0002c0003t0001 a0001c0001t0001 a0001c0006t0001 a0002c0003t0001	a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0198 others(3): Show a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0198 a0001c0006t0001g0054 a0001c0006t0001g0061 a0002c0003t0001g0015	6	262	0.0229	21	c.114 others(42): Show c.11493+1341_11493+1361dupTTTTTTTTTTTTTTTTTTTTT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	78/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103483022	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02135.hp1 HG00423.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0108 a0001c0008t0001g0177 a0001c0001t0001g0108 a0001c0008t0001g0177	2	262	0.0076	21	c.37 others(32): Show c.3769_*3770insAAAAAAAAAAAAAAAAAAAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding		3160		chr11	TogoVar
DYNC2I2_chr9_128628653_128661847	128649688	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0068 a0001c0007t0001g0068	1	368	0.0027	21	c.186 others(38): Show c.186+6832_186+6852dupTTTTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01099.hp1 HG02965.hp1 others(1): Show HG00423.hp1 HG01099.hp1 HG02965.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0181 a0001c0001t0001g0308 a0001c0003t0001g0283 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0308 a0001c0003t0001g0283 a0001c0005t0001g0284	4	368	0.0109	21	c.186 others(38): Show c.186+1185_186+1205dupTTTTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2LI1_chr2_43769039_43815010	43775854	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0107 a0003c0003t0002g0107	1	294	0.0034	21	c.9-9 others(32): Show c.9-918_9-898dupTTTTTTTTTTTTTTTTTTTTT	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNLL1_chr12_120491113_120503493	120493141	A A	AATGTTTT others(14): Show AATGTTTTATATTCTAATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18999.hp2 NA19077.hp2 NA18965.hp1 NA18999.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0001 a0001c0001t0002g0009	3	408	0.0074	21	c.-30 others(32): Show c.-3082_-3081insATGTTTTATATTCTAATATTT	DYNLL1	ENSG00000088986.11	transcript	ENST00000242577.11	protein_coding		2971		chr12	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01928.hp2 HG02004.hp2 others(4): Show HG00673.hp1 HG01928.hp2 HG02004.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0032	7	396	0.0177	21	c.75 others(30): Show c.757_*758insATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02572.hp1 HG03579.hp2 HG01975.hp2 HG02572.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0006 a0001c0001t0001g0007	3	396	0.0076	21	c.75 others(30): Show c.757_*758insAAATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 NA18942.hp1 NA19011.hp2 others(2): Show HG03239.hp2 NA18942.hp1 NA19011.hp2 NA19012.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	396	0.0126	21	c.75 others(30): Show c.757_*758insAAAAAAATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	21	c.75 others(30): Show c.757_*758insAAAAAAAAATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636070	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 NA18612.hp2 HG03579.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	396	0.0051	21	c.75 others(30): Show c.756_*757insTATATATATATATATATATAT	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		403		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196299472	C C	CTTGGCCT others(14): Show CTTGGCCTTCGAAAGTGGTAGG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	330	0.0030	21	c.318 others(38): Show c.318-3424_318-3404dupCCTACCACTTTCGAAGGCCAA	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	3/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37417532	T T	TTTCTTTT others(14): Show TTTCTTTTTCTTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00738.hp2 others(20): Show HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01123.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(4): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0038 a0001c0001t0081 a0001c0001t0082	a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 others(20): Show a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0008g0271 a0001c0001t0008g0283 a0001c0001t0008g0284 a0001c0001t0008g0285 a0001c0001t0008g0289 a0001c0001t0008g0290 a0001c0001t0009g0286 a0001c0001t0018g0278 a0001c0001t0018g0291 a0001c0001t0018g0294 a0001c0001t0038g0308 a0001c0001t0038g0310 a0001c0001t0081g0279 a0001c0001t0082g0272	23	350	0.0657	21	c.-76 others(38): Show c.-76-2765_-76-2764insCTTTTTCTTTTTCTTTTTCTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02738.hp2 NA19081.hp2 HG00597.hp1 HG02738.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0063 a0001c0001t0073 a0001c0001t0001 a0001c0001t0063 a0001c0001t0073	a0001c0001t0001g0081 a0001c0001t0063g0345 a0001c0001t0073g0335 a0001c0001t0001g0081 a0001c0001t0063g0345 a0001c0001t0073g0335	3	350	0.0086	21	c.10+ others(38): Show c.10+19749_10+19769dupTTTTTTTTTTTTTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71565246	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG02109.hp1 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0065 a0001c0004t0003g0084 a0001c0004t0003g0065 a0001c0004t0003g0084	2	192	0.0104	21	c.251 others(40): Show c.2511+1051_2511+1052insTTTTTTTTTTTTTTTTTTTTT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	24/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71565246	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp1 HG03130.hp2 HG02109.hp1 HG02965.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0134 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0134	3	208	0.0144	21	c.256 others(40): Show c.2565+1051_2565+1052insTTTTTTTTTTTTTTTTTTTTT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	24/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYTN_chr2_206646621_206723396	206721150	C C	CAATAATA others(14): Show CAATAATAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03139.hp1 NA18906.hp2 HG02647.hp2 HG03139.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0350 a0003c0003t0001g0210 a0003c0003t0001g0215 a0001c0001t0001g0350 a0003c0003t0001g0210 a0003c0003t0001g0215	3	382	0.0079	21	c.-28 others(32): Show c.-2892_-2872dupATTATTATTATTATTATTATT	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding		2755		chr2	TogoVar
DZIP1L_chr3_138056990_138120608	138114007	T T	TGCAGAAT others(14): Show TGCAGAATTGTAAAACAAACAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG02683.hp1 HG00639.hp1 HG01099.hp2 HG02683.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0013 a0004c0005t0001 a0004c0005t0013	a0004c0005t0001g0138 a0004c0005t0001g0139 a0004c0005t0013g0144 a0004c0005t0001g0138 a0004c0005t0001g0139 a0004c0005t0013g0144	3	312	0.0096	21	c.-82 others(38): Show c.-82+1300_-82+1320dupTTGTTTGTTTTACAATTCTGC	DZIP1L	ENSG00000158163.15	transcript	ENST00000327532.7	protein_coding	1/15			chr3	TogoVar
DZIP3_chr3_108584722_108699840	108697439	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG03139.hp1 HG01192.hp2 HG03139.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0110 a0004c0005t0005g0112 a0004c0005t0005g0110 a0004c0005t0005g0112	2	318	0.0063	21	c.40 others(32): Show c.4086_*4087insAAAAAAAAAAAAAAAAAAAAA	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding		2600		chr3	TogoVar
E2F6_chr2_11439375_11471161	11468851	A A	AATTATAT others(14): Show AATTATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02622.hp2 HG02145.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0076 a0001c0001t0001g0009 a0001c0001t0001g0076	2	366	0.0055	21	c.-29 others(32): Show c.-2973_-2972insATATATATATATATATATAAT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2691		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	366	0.0027	21	c.-29 others(32): Show c.-2977_-2976insATATATATTTTTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01167.hp2 HG04115.hp2 others(2): Show HG00099.hp2 HG01167.hp2 HG04115.hp2 NA18947.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0013 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0061	5	366	0.0137	21	c.-29 others(32): Show c.-2977_-2976insATATATATATATTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02155.hp1 NA18969.hp1 others(1): Show HG00140.hp2 HG02155.hp1 NA18969.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0163 a0001c0001t0002g0002 a0001c0001t0002g0013 others(1): Show a0001c0001t0001g0163 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0025	4	366	0.0109	21	c.-29 others(32): Show c.-2977_-2976insATATATATATATATTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBAG9_chr8_109535173_109570996	109538047	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	356	0.0028	21	c.-24 others(32): Show c.-2430_-2429insTTTTTTTTTTTTTTTTTTTTT	EBAG9	ENSG00000147654.16	transcript	ENST00000337573.10	protein_coding		2125		chr8	TogoVar
EBF1_chr5_158690920_159104916	158969919	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0037 a0001c0002t0017g0037	1	196	0.0051	21	c.554 others(42): Show c.554+103476_554+103477insCTTTCTTTCTTTCTTTCTTTC	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25838176	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAACAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	220	0.0046	21	c.64 others(32): Show c.6432_*6433insGTTTTTTTGTTTTTTTTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3548		chr8	TogoVar
EBF3_chr10_129830233_129969274	129875187	C C	CTTCTTCT others(14): Show CTTCTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0325 a0001c0001t0024g0325	1	338	0.0030	21	c.637 others(38): Show c.637-1592_637-1591insAAAAAAAAAAAAAAAGAAGAA	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	7/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129875187	C C	CTTCTTTT others(14): Show CTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG02809.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0209 a0001c0001t0007g0268 a0001c0001t0001g0209 a0001c0001t0007g0268	2	338	0.0059	21	c.637 others(38): Show c.637-1592_637-1591insAAAAAAAAAAAAAAAAAAGAA	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	7/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02258.hp2 HG02976.hp2 others(4): Show HG00140.hp2 HG02258.hp2 HG02976.hp2 HG03225.hp2 NA18522.hp1 NA19030.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0002c0003t0053	a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0108 others(4): Show a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0132 a0001c0001t0004g0274 a0001c0001t0010g0326 a0002c0003t0053g0332	7	338	0.0207	21	c.554 others(40): Show c.554+39586_554+39606dupTTTTTTTTTTTTTTTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF4_chr20_2687780_2765108	2718870	G G	GCTTAAAA others(14): Show GCTTAAAATCTTTCATTTTTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0290 a0001c0005t0001g0290	1	388	0.0026	21	c.557 others(38): Show c.557+9237_557+9257dupCTTTCATTTTTGTCTTAAAAT	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr20	TogoVar

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