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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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
DPP10_chr2_114437641_115850780	115439116	T T	TGGCTAAG others(29): Show TGGCTAAGATGGTCATGGGAGCACAGTGTGGAATAGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0011 a0002c0001t0002g0011	1	56	0.0179	36	c.272 others(55): Show c.272-60377_272-60376insGAGCACAGTGTGGAATAGCGGCTAAG ATGGTCATGG	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115439134	A A	AAGCACAG others(29): Show AAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG02735.hp1 others(4): Show HG00639.hp2 HG01192.hp1 HG02735.hp1 HG03239.hp1 NA19079.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0001 a0005c0007 a0001c0002 a0002c0001 a0005c0007	a0001c0002t0001 a0001c0002t0009 a0002c0001t0002 others(2): Show a0001c0002t0001 a0001c0002t0009 a0002c0001t0002 a0002c0001t0005 a0005c0007t0011	a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0009g0034 others(4): Show a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0009g0034 a0002c0001t0002g0054 a0002c0001t0005g0027 a0002c0001t0005g0029 a0005c0007t0011g0052	7	56	0.1250	36	c.272 others(55): Show c.272-60236_272-60201dupATGGGAGCACAGTGTGGAATAGTGGC TAAGATGGTC	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115459938	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0016 a0004c0005t0016	a0004c0005t0016g0044 a0004c0005t0016g0044	1	56	0.0179	36	c.272 others(55): Show c.272-39571_272-39570insTATATATATATATATATATATATATA TACACACACA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115459938	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp2 NA19043.hp2 HG02809.hp2 HG03195.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0003 a0001c0004 a0002c0001 a0003c0003	a0001c0004t0008 a0002c0001t0001 a0003c0003t0003 a0001c0004t0008 a0002c0001t0001 a0003c0003t0003	a0001c0004t0008g0045 a0002c0001t0001g0040 a0003c0003t0003g0048 a0001c0004t0008g0045 a0002c0001t0001g0040 a0003c0003t0003g0048	3	56	0.0536	36	c.272 others(55): Show c.272-39571_272-39570insTATATATATATATATATATATATATA TATACACACA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115712540	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02818.hp2 HG00639.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0004 a0002c0001t0002 a0001c0004t0004 a0002c0001t0002	a0001c0004t0004g0021 a0002c0001t0002g0026 a0001c0004t0004g0021 a0002c0001t0002g0026	2	56	0.0357	36	c.577 others(55): Show c.577-15274_577-15273insTATATATATATATATATATATATATA TATATATATA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115712540	T T	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	56	0.0179	36	c.577 others(55): Show c.577-15275_577-15274insTTATATATATATATATATATATATAT ATATATATAT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115712540	T T	TTTTATTT others(29): Show TTTTATTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp1 NA18906.hp2 HG02809.hp2 HG03098.hp1 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0046 a0003c0003t0003g0039 a0003c0003t0003g0048 a0003c0003t0001g0046 a0003c0003t0003g0039 a0003c0003t0003g0048	3	56	0.0536	36	c.577 others(55): Show c.577-15275_577-15274insTTATTTATATATATATATATATATAT ATATATATAT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154074115	A A	ATAGATAT others(29): Show ATAGATATCTATATAGAGAGATATCTATATATCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02965.hp2 HG02486.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0004 a0002c0009	a0002c0004t0006 a0002c0009t0004 a0002c0004t0006 a0002c0009t0004	a0002c0004t0006g0028 a0002c0009t0004g0004 a0002c0004t0006g0028 a0002c0009t0004g0004	2	38	0.0526	36	c.243 others(55): Show c.243+21054_243+21055insGATATCTATATAGAGAGATATCTATA TATCTCTCTA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154313714	T T	TACATATA others(29): Show TACATATATATATATATATATACGCATACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0001 a0002c0008t0012g0001	1	38	0.0263	36	c.244 others(57): Show c.244-132497_244-132496insTATATATATATATATATACGCATA CACACACACACA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154313714	T T	TATATATA others(29): Show TATATATATATATATATATATGCATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0024 a0001c0003t0007g0024	1	38	0.0263	36	c.244 others(57): Show c.244-132499_244-132498insTATATATATATATATATATGCATA CACACACACACA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154608320	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02486.hp2 NA20905.hp1 HG01978.hp1 HG02486.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0020 a0001c0027 a0002c0009 a0001c0020 a0001c0027 a0002c0009	a0001c0020t0001 a0001c0027t0027 a0002c0009t0004 a0001c0020t0001 a0001c0027t0027 a0002c0009t0004	a0001c0020t0001g0010 a0001c0027t0027g0007 a0002c0009t0004g0004 a0001c0020t0001g0010 a0001c0027t0027g0007 a0002c0009t0004g0004	3	38	0.0790	36	c.628 others(55): Show c.628-29479_628-29478insATATATATATATATATATATATATAT ATATATATAT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63592001	G G	GAGGGGAG others(29): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0027 a0002c0002t0004g0027	1	362	0.0028	36	c.158 others(55): Show c.1580+2085_1580+2086insACCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63592011	G G	GAGGGGAG others(29): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18954.hp1 NA18984.hp2 others(1): Show HG02602.hp2 NA18954.hp1 NA18984.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0033 a0002c0002t0002g0035 others(1): Show a0002c0002t0002g0015 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036	4	362	0.0111	36	c.158 others(55): Show c.1580+2075_1580+2076insACCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPY19L4_chr8_94714900_94798836	94715070	A A	ATATATAT others(29): Show ATATATATGTAATGTATATACGTATATTTTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA18522.hp1 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0002t0001g0023 a0001c0001t0001g0024 a0001c0002t0001g0023	2	290	0.0069	36	c.-49 others(47): Show c.-4929_-4928insTATATATGTAATGTATATACGTATATTTTATATA TG	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding		4829		chr8	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(29): Show TATATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	232	0.0043	36	c.669 others(51): Show c.669+382_669+383insTATATATACACACACACACACACACACACA CACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(29): Show TATATATATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19002.hp1 HG01167.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0004 a0001c0001t0024 a0001c0002t0004	a0001c0001t0024g0036 a0001c0002t0004g0118 a0001c0001t0024g0036 a0001c0002t0004g0118	2	232	0.0086	36	c.669 others(51): Show c.669+382_669+383insTATATATATATACACACACACACACACACA CACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(29): Show TATATATATATATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01952.hp1 NA18954.hp1 others(4): Show HG01255.hp1 HG01952.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18973.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0101 a0001c0002t0002g0117 a0001c0002t0002g0127 others(4): Show a0001c0002t0002g0101 a0001c0002t0002g0117 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0004g0099	7	232	0.0302	36	c.669 others(51): Show c.669+382_669+383insTATATATATATATACACACACACACACACA CACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(29): Show TATATATATATATATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03453.hp2 HG02738.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0018 a0001c0002t0002 a0001c0002t0018	a0001c0002t0002g0086 a0001c0002t0018g0150 a0001c0002t0002g0086 a0001c0002t0018g0150	2	232	0.0086	36	c.669 others(51): Show c.669+382_669+383insTATATATATATATATACACACACACACACA CACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931203	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	232	0.0043	36	c.670 others(51): Show c.670-436_670-435insGTGTGTGTGTGTATGTATATATATATATAT ATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26418560	A A	ATATATAA others(29): Show ATATATAATATATATTATATATAAATTATATATAATT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02572.hp1 HG03041.hp1 others(2): Show HG01496.hp1 HG02572.hp1 HG03041.hp1 HG03195.hp1 HG03516.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0261 a0003c0005t0003g0358 a0003c0005t0003g0359 others(2): Show a0003c0005t0003g0261 a0003c0005t0003g0358 a0003c0005t0003g0359 a0003c0005t0003g0362 a0003c0005t0003g0363	5	384	0.0130	36	c.244 others(53): Show c.244-2714_244-2679dupTTATATATAAATTATATATAATTTATAT AATATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0178 a0006c0008t0001g0178	1	384	0.0026	36	c.889 others(51): Show c.889-455_889-454insAATATATATATATATATATATATATATATA TATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02004.hp1 HG02602.hp2 others(5): Show HG00099.hp1 HG02004.hp1 HG02602.hp2 NA18940.hp1 NA18965.hp2 NA18966.hp2 NA18980.hp1 NA19067.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0005 a0004c0003 others(1): Show a0001c0001 a0003c0005 a0004c0003 a0005c0006	a0001c0001t0004 a0003c0005t0001 a0004c0003t0001 others(1): Show a0001c0001t0004 a0003c0005t0001 a0004c0003t0001 a0005c0006t0001	a0001c0001t0004g0250 a0003c0005t0001g0299 a0004c0003t0001g0200 others(5): Show a0001c0001t0004g0250 a0003c0005t0001g0299 a0004c0003t0001g0200 a0004c0003t0001g0232 a0004c0003t0001g0244 a0004c0003t0001g0256 a0005c0006t0001g0238 a0005c0006t0001g0243	8	384	0.0208	36	c.889 others(51): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439934	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	384	0.0026	36	c.889 others(51): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TACATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG01109.hp2 HG00741.hp1 HG01074.hp1 HG01109.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0027 a0001c0001 a0019c0027	a0001c0001t0001 a0019c0027t0001 a0001c0001t0001 a0019c0027t0001	a0001c0001t0001g0003 a0019c0027t0001g0344 a0001c0001t0001g0003 a0019c0027t0001g0344	3	384	0.0078	36	c.889 others(51): Show c.889-441_889-440insTATATATATATATATATATATATATATATA CACACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02809.hp1 HG03195.hp1 HG01496.hp1 HG02809.hp1 HG03195.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0003 a0003c0005t0001 a0003c0005t0003	a0003c0005t0001g0020 a0003c0005t0003g0358 a0003c0005t0003g0359 a0003c0005t0001g0020 a0003c0005t0003g0358 a0003c0005t0003g0359	3	384	0.0078	36	c.889 others(51): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TACACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00738.hp2 others(6): Show HG00099.hp2 HG00544.hp1 HG00738.hp2 HG02135.hp1 HG02280.hp1 HG02698.hp2 NA18940.hp2 NA18966.hp1 NA19007.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0001 a0004c0003 a0006c0008 others(1): Show a0001c0001 a0004c0003 a0006c0008 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0004c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0004c0003t0001 a0006c0008t0001 a0007c0009t0001	a0001c0001t0001g0036 a0001c0001t0001g0211 a0001c0001t0003g0074 others(6): Show a0001c0001t0001g0036 a0001c0001t0001g0211 a0001c0001t0003g0074 a0004c0003t0001g0207 a0004c0003t0001g0218 a0006c0008t0001g0180 a0007c0009t0001g0185 a0007c0009t0001g0189 a0007c0009t0001g0191	9	384	0.0234	36	c.889 others(51): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DROSHA_chr5_31395494_31537093	31397451	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02280.hp2 HG02630.hp1 others(3): Show HG01175.hp2 HG02280.hp2 HG02630.hp1 HG02965.hp2 HG03098.hp2 HG06807.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0022 others(3): Show a0001c0001 a0001c0002 a0001c0022 a0001c0025 a0003c0006 a0007c0035	a0001c0001t0003 a0001c0002t0001 a0001c0022t0003 others(3): Show a0001c0001t0003 a0001c0002t0001 a0001c0022t0003 a0001c0025t0003 a0003c0006t0003 a0007c0035t0003	a0001c0001t0003g0284 a0001c0002t0001g0204 a0001c0022t0003g0045 others(3): Show a0001c0001t0003g0284 a0001c0002t0001g0204 a0001c0022t0003g0045 a0001c0025t0003g0099 a0003c0006t0003g0101 a0007c0035t0003g0126	6	322	0.0186	36	c.39 others(47): Show c.3980_*3981insATATATATATATATATATATATATATATATATAT AT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3042		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02027.hp2 HG02129.hp2 others(12): Show HG01243.hp2 HG02027.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02559.hp2 HG02896.hp1 HG02897.hp2 HG03471.hp2 NA18747.hp2 NA18906.hp1 NA18999.hp1 NA19009.hp1 NA19064.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0010	a0001c0001t0002 a0001c0002t0001 a0001c0003t0003 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0003 a0001c0007t0001 a0001c0008t0002 a0001c0010t0001	a0001c0001t0002g0089 a0001c0002t0001g0060 a0001c0002t0001g0133 others(12): Show a0001c0001t0002g0089 a0001c0002t0001g0060 a0001c0002t0001g0133 a0001c0002t0001g0167 a0001c0002t0001g0182 a0001c0003t0003g0031 a0001c0003t0003g0058 a0001c0003t0003g0183 a0001c0003t0003g0221 a0001c0007t0001g0260 a0001c0007t0001g0299 a0001c0008t0002g0042 a0001c0008t0002g0047 a0001c0010t0001g0051 a0001c0010t0001g0052	15	322	0.0466	36	c.39 others(47): Show c.3979_*3980insTATATATATATATATATATATATATATATATATA TA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATGCAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0026 a0001c0007t0001g0026	1	322	0.0031	36	c.342 others(53): Show c.3420-521_3420-520insGTGCATATATATATATATATATATATAT ATATATTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19082.hp2 NA18978.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0154 a0001c0003t0003g0243 a0001c0002t0001g0154 a0001c0003t0003g0243	2	322	0.0062	36	c.342 others(53): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31480178	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02698.hp1 HG03942.hp2 HG01106.hp1 HG02698.hp1 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0005 a0002c0004t0002 a0002c0005t0007 a0001c0001t0005 a0002c0004t0002 a0002c0005t0007	a0001c0001t0005g0318 a0002c0004t0002g0112 a0002c0005t0007g0013 a0001c0001t0005g0318 a0002c0004t0002g0112 a0002c0005t0007g0013	3	322	0.0093	36	c.207 others(55): Show c.2071+3375_2071+3376insTATATATATATATATATATATATATA TATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	16/35			chr5	TogoVar
DSCAML1_chr11_117422772_117802216	117694078	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0004 a0004	a0004c0068 a0004c0068	a0004c0068t0001 a0004c0068t0001	a0004c0068t0001g0146 a0004c0068t0001g0146	1	194	0.0052	36	c.511 others(55): Show c.511+82712_511+82713insGTATATATATATATATATATATATAT ATATATATAT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DST_chr6_56452996_56959830	56654586	C C	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 NA18983.hp2 others(1): Show HG00597.hp1 HG00621.hp2 NA18983.hp2 NA20752.hp1	a0001 a0005 a0027 others(1): Show a0001 a0005 a0027 a0043	a0001c0001 a0005c0006 a0027c0024 others(1): Show a0001c0001 a0005c0006 a0027c0024 a0043c0044	a0001c0001t0001 a0005c0006t0001 a0027c0024t0001 others(1): Show a0001c0001t0001 a0005c0006t0001 a0027c0024t0001 a0043c0044t0001	a0001c0001t0001g0039 a0005c0006t0001g0040 a0027c0024t0001g0006 others(1): Show a0001c0001t0001g0039 a0005c0006t0001g0040 a0027c0024t0001g0006 a0043c0044t0001g0056	4	84	0.0476	36	c.121 others(55): Show c.1215-3343_1215-3342insTATATATATATATATATATATATATA TATATATATA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	10/103			chr6	TogoVar
DST_chr6_56452996_56959830	56908096	T T	TGTGTGTG others(29): Show TGTGTGTGTGTATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02622.hp1 others(2): Show HG02451.hp2 HG02572.hp1 HG02622.hp1 HG03225.hp1 HG03486.hp2	a0002 a0021 a0002 a0021	a0002c0002 a0021c0017 a0002c0002 a0021c0017	a0002c0002t0001 a0021c0017t0001 a0002c0002t0001 a0021c0017t0001	a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 others(2): Show a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0021c0017t0001g0068	5	84	0.0595	36	c.217 others(53): Show c.217-7476_217-7475insGTGTGTGTATATATATATATATATATAC ACACACAC	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DTNB_chr2_25372243_25678577	25416809	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp2 HG03139.hp2 HG02055.hp2 HG02818.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0001g0121 a0001c0002t0001g0056 a0001c0002t0001g0063 a0001c0002t0001g0121	3	168	0.0179	36	c.157 others(55): Show c.1575+2705_1575+2706insGCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	16/20			chr2	TogoVar
DTWD2_chr5_118831074_118993547	118843371	G G	GAGGAAGG others(29): Show GAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02572.hp1 HG01496.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0136 a0001c0001t0004g0137	2	242	0.0083	36	c.727 others(53): Show c.727-2285_727-2284insTCCTTCCTTCCTTCCTTCCTTCCTTCCT CCCTTCCT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	5/5			chr5	TogoVar
DTWD2_chr5_118831074_118993547	118945774	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0011 a0001c0001t0013g0011	1	242	0.0041	36	c.219 others(53): Show c.219-1161_219-1126dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5			chr5	TogoVar
DTWD2_chr5_118831074_118993547	118973606	C C	CGCCTCCT others(29): Show CGCCTCCTTGCTCGCGGCAGCCTCCTTGCTCGCGGCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19030.hp2 HG02723.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0021 a0001c0001t0013 a0001c0001t0021	a0001c0001t0013g0011 a0001c0001t0021g0010 a0001c0001t0013g0011 a0001c0001t0021g0010	2	242	0.0083	36	c.218 others(55): Show c.218+14652_218+14687dupTGCCGCGAGCAAGGAGGCTGCCGCGA GCAAGGAGGC	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5			chr5	TogoVar
DTX2_chr7_76456709_76510991	76486884	C C	CTGCTGCT others(29): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02683.hp2 HG02258.hp1 HG02683.hp2	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0001 a0003c0005t0001 a0003c0004t0001 a0003c0005t0001	a0003c0004t0001g0248 a0003c0005t0001g0026 a0003c0004t0001g0248 a0003c0005t0001g0026	2	280	0.0071	36	c.908 others(53): Show c.908+3740_908+3741insTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTTTTGC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX4_chr11_59167132_59213588	59206508	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0007 a0001c0001t0053g0007	1	390	0.0026	36	c.15 others(47): Show c.1599_*1600insATATATATATATATATATATATATATATATATAT AT	DTX4	ENSG00000110042.8	transcript	ENST00000227451.4	protein_coding	9/9	1600		chr11	TogoVar
DUOX1_chr15_45124994_45170574	45142767	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01496.hp1 HG02027.hp2 others(5): Show HG01346.hp2 HG01496.hp1 HG02027.hp2 NA18940.hp2 NA18967.hp2 NA18990.hp1 NA19001.hp2 NA19005.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0004 a0007c0016 a0002c0002 a0004c0004 a0007c0016	a0002c0002t0003 a0004c0004t0001 a0007c0016t0003 a0002c0002t0003 a0004c0004t0001 a0007c0016t0003	a0002c0002t0003g0032 a0002c0002t0003g0035 a0002c0002t0003g0039 others(5): Show a0002c0002t0003g0032 a0002c0002t0003g0035 a0002c0002t0003g0039 a0002c0002t0003g0051 a0002c0002t0003g0305 a0002c0002t0003g0317 a0004c0004t0001g0053 a0007c0016t0003g0188	8	386	0.0207	36	c.182 others(53): Show c.1823-402_1823-401insAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGG	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	15/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
DUS2_chr16_68018284_68084320	68020851	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATACGTATGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0117 a0007c0008t0001g0117	1	234	0.0043	36	c.-25 others(47): Show c.-2599_-2598insTATATATATATATATATATATATATATACGTATG TA	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding		2432		chr16	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(29): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	364	0.0028	36	c.-49 others(47): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(29): Show TCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0080 a0001c0001t0028g0080	1	352	0.0028	36	c.-36 others(55): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(29): Show TCACACACCCACACCCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00735.hp1 others(9): Show HG00280.hp2 HG00733.hp1 HG00735.hp1 HG01361.hp2 HG02559.hp2 NA18951.hp2 NA18965.hp2 NA18994.hp1 NA19074.hp1 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 a0001c0001t0047	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 others(9): Show a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0006g0078 a0001c0001t0027g0064 a0001c0001t0047g0325	12	352	0.0341	36	c.-36 others(55): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGTGGGTG TGGGTGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP26_chr8_33586330_33605023	33597882	T T	TACACACA others(29): Show TACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18979.hp2 NA19090.hp1 HG00609.hp2 NA18979.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0009g0051 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0009g0051	3	420	0.0071	36	c.-76 others(51): Show c.-76-292_-76-291insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar
DUXA_chr19_57149021_57172485	57155646	A A	AAGATAGA others(29): Show AAGATAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02630.hp2 HG02004.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0317 a0001c0001t0002g0047 a0001c0001t0001g0317 a0001c0001t0002g0047	2	446	0.0045	36	c.439 others(51): Show c.439-275_439-274insATCTATCTATCTATCTATCTATCTATCTAT CTATCT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	4/5			chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGCGC others(29): Show GGGGGCGCGCGAGGGGGCGGGGGGCGCGCGAGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	446	0.0022	36	c.-46 others(47): Show c.-4629_-4628insGCCCCCTCGCGCGCCCCCCGCCCCCTCGCGCGCC CC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172105	C C	CGGGGCGC others(29): Show CGGGGCGCGCGAGGGGGCGGGGGCGCGCGAGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	446	0.0022	36	c.-46 others(47): Show c.-4663_-4662insCGCCCCCTCGCGCGCCCCCGCCCCCTCGCGCGCC CC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4621		chr19	TogoVar
DUXB_chr16_75688893_75706461	75705616	A A	ACTCCCCC others(29): Show ACTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	422	0.0024	36	c.-41 others(47): Show c.-4199_-4198insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG AG	DUXB	ENSG00000282757.4	transcript	ENST00000633875.4	protein_coding		4156		chr16	TogoVar

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Search Results (Total: 8848 hits)