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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DPF3_chr14_72604034_72899101	72884953	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0115 a0001c0001t0010g0115	1	234	0.0043	38	c.32+ others(53): Show c.32+9103_32+9104insGTATATATATATATATATATATATATATAT ATATATAT		DPF3	ENSG00000205683.12	transcript	ENST00000556509.6	protein_coding	1/10						chr14	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	228	0.0044	38	c.312 others(57): Show c.312+41706_312+41707insATATATATATATATATATTTTTTTTT TTTTTTTTTTTT		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	228	0.0044	38	c.312 others(57): Show c.312+41706_312+41707insATATATATATATATATATATTTTTTT TTTTTTTTTTTT		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPH6_chr15_35365880_35551165	35496567	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03491.hp1 HG03209.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0051 a0001c0001t0002g0036 a0001c0001t0001g0051 a0001c0001t0002g0036	2	228	0.0088	38	c.312 others(57): Show c.312+41706_312+41707insATATATATATATATATATATATTTTT TTTTTTTTTTTT		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPP10_chr2_114437641_115850780	114477859	A A	ATGTATAT others(31): Show ATGTATATATGTACATATATGTGTATATATGTACATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp2 HG02818.hp1 others(6): Show HG00639.hp1 HG02109.hp2 HG02818.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 NA18970.hp1 NA18986.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0001 others(1): Show a0001c0002 a0001c0004 a0002c0001 a0003c0003	a0001c0002t0001 a0001c0004t0004 a0001c0004t0007 others(3): Show a0001c0002t0001 a0001c0004t0004 a0001c0004t0007 a0002c0001t0002 a0002c0001t0015 a0003c0003t0003	a0001c0002t0001g0019 a0001c0004t0004g0021 a0001c0004t0007g0055 others(6): Show a0001c0002t0001g0019 a0001c0004t0004g0021 a0001c0004t0007g0055 a0002c0001t0002g0037 a0002c0001t0002g0054 a0002c0001t0015g0018 a0003c0003t0003g0002 a0003c0003t0003g0039 a0003c0003t0003g0049	9	56	0.1607	38	c.60+ others(55): Show c.60+35083_60+35120dupATATATGTACATATGTGTATATATGTAC ATATATGTGT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114477859	A A	ATGTATGT others(31): Show ATGTATGTATGTACACATATGTGTATATATGTACATGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp2 HG02280.hp2 HG02809.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0001 a0003c0003t0003 a0002c0001t0001 a0003c0003t0003	a0002c0001t0001g0020 a0003c0003t0003g0048 a0002c0001t0001g0020 a0003c0003t0003g0048	2	56	0.0357	38	c.60+ others(55): Show c.60+35026_60+35027insGTATGTACACATATGTGTATATATGTAC ATGTGTGTAT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115712540	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0018 a0002c0001t0015g0018	1	56	0.0179	38	c.577 others(57): Show c.577-15274_577-15273insTATATATATATATATATATATATATA TATATATATATA		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(31): Show TTTTATTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19030.hp2 HG02922.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0001 a0003c0003t0003g0002	2	56	0.0357	38	c.577 others(57): Show c.577-15275_577-15274insTTATTTATATATATATATATATATAT ATATATATATAT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	7/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154608320	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0024 a0001c0003t0007g0024	1	38	0.0263	38	c.628 others(57): Show c.628-29479_628-29478insATATATATATATATATATATATATAT ATATATATATAT		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	5/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
DPY30_chr2_32018905_32044805	32036490	T T	TGAAACCC others(31): Show TGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18952.hp1 NA19084.hp1 others(1): Show NA18950.hp1 NA18952.hp1 NA19084.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0304	4	384	0.0104	38	c.84+ others(53): Show c.84+2751_84+2788dupGGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTC		DPY30	ENSG00000162961.14	transcript	ENST00000342166.10	protein_coding	3/4						chr2	TogoVar
DPYD_chr1_97072743_97926034	97323627	T T	TATGTACA others(31): Show TATGTACATATGTGTATATATACACATATATACATATCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	52	0.0192	38	c.205 others(59): Show c.2059-17331_2059-17330insTGATATGTATATATGTGTATATAT ACACATATGTACAT		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	16/22						chr1	TogoVar
DPYD_chr1_97072743_97926034	97376887	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0040 a0007c0008t0001g0040	1	52	0.0192	38	c.197 others(57): Show c.1975-3244_1975-3243insTATATATATATATATATATATATATA TATACACACACA		DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	15/22						chr1	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(31): Show TATATATATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0085	1	232	0.0043	38	c.669 others(53): Show c.669+382_669+383insTATATATATACACACACACACACACACACA CACACACA		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(31): Show TATATATATATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp1 HG02895.hp2 HG01069.hp1 HG01109.hp1 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0041 a0001c0002t0002g0091 a0001c0002t0004g0143 a0001c0002t0002g0041 a0001c0002t0002g0091 a0001c0002t0004g0143	3	232	0.0129	38	c.669 others(53): Show c.669+382_669+383insTATATATATATACACACACACACACACACA CACACACA		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(31): Show TATATATATATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02155.hp1 HG02630.hp1 others(2): Show HG01346.hp2 HG02155.hp1 HG02630.hp1 NA19005.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0131 others(2): Show a0001c0002t0002g0120 a0001c0002t0002g0123 a0001c0002t0002g0131 a0001c0002t0002g0151 a0001c0002t0004g0229	5	232	0.0216	38	c.669 others(53): Show c.669+382_669+383insTATATATATATATACACACACACACACACA CACACACA		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(31): Show TATATATATATATATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02300.hp1 HG03041.hp1 others(1): Show HG01081.hp1 HG02300.hp1 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0014 a0001c0002t0027 a0001c0002t0002 a0001c0002t0014 a0001c0002t0027	a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0014g0038 others(1): Show a0001c0002t0002g0217 a0001c0002t0002g0220 a0001c0002t0014g0038 a0001c0002t0027g0083	4	232	0.0172	38	c.669 others(53): Show c.669+382_669+383insTATATATATATATATACACACACACACACA CACACACA		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(31): Show TATATATATATATATATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0034 a0001c0002t0014g0034	1	232	0.0043	38	c.669 others(53): Show c.669+382_669+383insTATATATATATATATATACACACACACACA CACACACA		DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26418540	T T	TTATAAAT others(31): Show TTATAAATTATATATAATTTATATATAATATATATTATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18960.hp2 NA19062.hp1 NA18953.hp2 NA18960.hp2 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0161 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0161	3	384	0.0078	38	c.244 others(55): Show c.244-2723_244-2686dupTAATATATATTATATATAAATTATATAT AATTTATATA		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(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0175 a0006c0008t0001g0175	1	384	0.0026	38	c.889 others(53): Show c.889-455_889-454insAATATATATATATATATATATATATATATA TATATATA		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(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18945.hp2 NA18979.hp1 others(3): Show HG04184.hp1 NA18945.hp2 NA18979.hp1 NA19004.hp1 NA19043.hp1 NA19075.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0003 a0005c0006 a0001c0001 a0004c0003 a0005c0006	a0001c0001t0004 a0001c0001t0007 a0004c0003t0001 others(1): Show a0001c0001t0004 a0001c0001t0007 a0004c0003t0001 a0005c0006t0001	a0001c0001t0004g0090 a0001c0001t0007g0050 a0004c0003t0001g0058 others(3): Show a0001c0001t0004g0090 a0001c0001t0007g0050 a0004c0003t0001g0058 a0004c0003t0001g0137 a0004c0003t0001g0234 a0005c0006t0001g0245	6	384	0.0156	38	c.889 others(53): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATATA		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(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG02451.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0336 a0001c0001t0001g0339	2	384	0.0052	38	c.889 others(53): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATACATA		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(31): Show TATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA21309.hp1 HG01346.hp2 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0314 a0003c0004t0001g0319 a0003c0004t0001g0314 a0003c0004t0001g0319	2	384	0.0052	38	c.889 others(53): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TACACACA		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(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02818.hp2 HG01934.hp1 HG02818.hp2	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0001 a0003c0005t0001 a0003c0004t0001 a0003c0005t0001	a0003c0004t0001g0029 a0003c0005t0001g0019 a0003c0004t0001g0029 a0003c0005t0001g0019	2	384	0.0052	38	c.889 others(53): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATACACA		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(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18941.hp1 NA18971.hp1 others(2): Show HG01258.hp1 NA18941.hp1 NA18971.hp1 NA19066.hp1 NA20805.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0006c0008 a0007c0009 a0001c0001 a0006c0008 a0007c0009	a0001c0001t0001 a0006c0008t0001 a0007c0009t0001 a0001c0001t0001 a0006c0008t0001 a0007c0009t0001	a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0071 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0071 a0006c0008t0001g0181 a0007c0009t0001g0128	5	384	0.0130	38	c.889 others(53): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TATATACA		DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC7_chr16_57689806_57736805	57724752	C C	CTCTCCTA others(31): Show CTCTCCTACCGCCATGCCAGCTTCGGACCCCGAGTCAAG	frameshift_variant frameshift_variant	HIGH	NA18522.hp1 NA18522.hp1	a0026 a0026	a0026c0036 a0026c0036	a0026c0036t0001 a0026c0036t0001	a0026c0036t0001g0294 a0026c0036t0001g0294	1	388	0.0026	38	c.167 others(47): Show c.1676_1713dupTCTCCTACCGCCATGCCAGCTTCGGACCCCGAGTCA AG	p.Lys others(5): Show p.Lys572fs	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	13/19	1929/3387	1714/2625	572/874		INFO_REALIGN_3_PRIME	chr16	TogoVar
DROSHA_chr5_31395494_31537093	31397451	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02976.hp1 HG02451.hp1 HG02630.hp2 HG02976.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0289 a0003c0006t0003g0290 a0003c0006t0003g0292 a0003c0006t0003g0289 a0003c0006t0003g0290 a0003c0006t0003g0292	3	322	0.0093	38	c.39 others(49): Show c.3980_*3981insATATATATATATATATATATATATATATATATAT ATAT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding					3042		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00673.hp1 others(8): Show HG00280.hp2 HG00621.hp1 HG00673.hp1 HG01168.hp1 HG01243.hp1 HG02074.hp1 HG02622.hp1 HG02818.hp1 HG03017.hp2 HG03195.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0019 a0002c0005	a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 others(4): Show a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0003t0003 a0001c0007t0001 a0001c0019t0001 a0002c0005t0007	a0001c0001t0005g0321 a0001c0001t0008g0248 a0001c0002t0001g0040 others(8): Show a0001c0001t0005g0321 a0001c0001t0008g0248 a0001c0002t0001g0040 a0001c0002t0001g0189 a0001c0002t0001g0206 a0001c0002t0001g0223 a0001c0003t0003g0032 a0001c0003t0003g0064 a0001c0007t0001g0285 a0001c0019t0001g0296 a0002c0005t0007g0007	11	322	0.0342	38	c.39 others(49): Show c.3979_*3980insTATATATATATATATATATATATATATATATATA TATA		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding					3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	322	0.0031	38	c.342 others(55): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATATATATTT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TAATTATA others(31): Show TAATTATATATTATATATATATATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0127 a0001c0030t0001g0127	1	322	0.0031	38	c.342 others(55): Show c.3420-522_3420-521insGGCGCATATATATATATATATATATATA ATATATAATT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar
DST_chr6_56452996_56959830	56654586	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG03579.hp2 others(1): Show HG02145.hp1 HG02451.hp1 HG03579.hp2 NA19066.hp1	a0005 a0012 a0025 others(1): Show a0005 a0012 a0025 a0035	a0005c0006 a0012c0009 a0025c0020 others(1): Show a0005c0006 a0012c0009 a0025c0020 a0035c0055	a0005c0006t0001 a0012c0009t0003 a0025c0020t0001 others(1): Show a0005c0006t0001 a0012c0009t0003 a0025c0020t0001 a0035c0055t0002	a0005c0006t0001g0003 a0012c0009t0003g0064 a0025c0020t0001g0073 others(1): Show a0005c0006t0001g0003 a0012c0009t0003g0064 a0025c0020t0001g0073 a0035c0055t0002g0021	4	84	0.0476	38	c.121 others(57): Show c.1215-3343_1215-3342insTATATATATATATATATATATATATA TATATATATATA		DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	10/103						chr6	TogoVar
DTD1_chr20_18583054_18771644	18708224	T T	TATATTAT others(31): Show TATATTATATATATTATATATATATTAAATATATATTAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0065 a0001c0001t0009g0065	1	398	0.0025	38	c.478 others(57): Show c.478-35872_478-35871insTATATATATTATATATATATTAAATA TATATTACATAT		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
DTNA_chr18_34705298_34896844	34747104	C C	CTATCTAT others(31): Show CTATCTATCTATCTATCTATCTATCTATCTATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0075 a0002c0003t0007g0075	1	112	0.0089	38	c.-1- others(53): Show c.-1-8869_-1-8868insCTATCTATCTATCTATCTATCTATCTATAT ATATATAT		DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr18	TogoVar
DTWD1_chr15_49616048_49661232	49633043	C C	CTATATAT others(31): Show CTATATATATCTATATATATATATATCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	342	0.0029	38	c.408 others(53): Show c.408+746_408+747insATATCTATATATATATATATCTATATATAT ATATATAT		DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr15	TogoVar
DUSP14_chr17_37484891_37518498	37509104	C C	CATATATA others(31): Show CATATATATATATATGTGTGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	421	0.0024	38	c.-18 others(57): Show c.-180-1559_-180-1558insGTGTGTATATATATATATATATATAT ATATATATATAT		DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
DUSP15_chr20_31856077_31875527	31873821	G G	GAAGGAAG others(31): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	378	0.0027	38	c.-34 others(49): Show c.-3485_-3484insTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTT CCTT		DUSP15	ENSG00000149599.16	transcript	ENST00000339738.10	protein_coding					3295		chr20	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(31): Show TCACACACCCACACCCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	352	0.0028	38	c.-36 others(57): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGTGTGGG TGTGGGTGTGTG		DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6						chr12	TogoVar
DYM_chr18_49031387_49465645	49441106	T T	TATATATA others(31): Show TATATATATTATATATATATATAAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	290	0.0035	38	c.-53 others(57): Show c.-53-10660_-53-10659insTATATATATATATATTTATATATATA TATAATATATAT		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0175 a0001c0001t0023g0175	1	280	0.0036	38	c.130 others(57): Show c.13007-175_13007-174insGTGTGTATATATATATATATATATAT ATATATATATAT		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(31): Show GTGTGTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	280	0.0036	38	c.130 others(57): Show c.13007-175_13007-174insGTGTGTGTATATATATATATATATAT ATATATATATAT		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(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG02559.hp1 HG02895.hp2 HG02897.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0086 a0001c0001t0001g0127 a0001c0004t0001g0101 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0127 a0001c0004t0001g0101 a0001c0004t0001g0133	4	230	0.0174	38	c.315 others(55): Show c.315-4078_315-4077insATATATATATATATATATATATATATAT ATATATATAT		DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158912720	C C	CCTAAGAA others(31): Show CCTAAGAAAATAGGGTGTGGGCAGGTGAGGTGGCAGTAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0243 a0003c0003t0007g0243	1	274	0.0037	38	c.159 others(55): Show c.1591-264_1591-227dupCTAAGAAAATAGGGTGTGGGCAGGTGAG GTGGCAGTAT		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	12/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158915309	G G	GGACACGC others(31): Show GGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02257.hp2 HG02258.hp2 others(5): Show HG01934.hp2 HG02257.hp2 HG02258.hp2 HG02818.hp1 HG03486.hp2 NA19030.hp1 NA19030.hp2 NA21309.hp2	a0004 a0007 a0004 a0007	a0004c0004 a0007c0005 a0004c0004 a0007c0005	a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 others(1): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0007c0005t0002	a0004c0004t0001g0170 a0004c0004t0002g0192 a0004c0004t0002g0193 others(5): Show a0004c0004t0001g0170 a0004c0004t0002g0192 a0004c0004t0002g0193 a0004c0004t0006g0199 a0004c0004t0006g0200 a0004c0004t0006g0201 a0007c0005t0002g0189 a0007c0005t0002g0225	8	274	0.0292	38	c.179 others(57): Show c.1791+1031_1791+1068dupCGCTGGTTGACATTAAGGATGATTGT GAAACGTCGACA		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916145	G G	GTGGTTGA others(31): Show GTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0004 a0011c0029t0004	a0011c0029t0004g0250 a0011c0029t0004g0250	1	274	0.0037	38	c.179 others(57): Show c.1791+1856_1791+1893dupGACACGCTGGTTGACATTAAGGATGA TTGTGAAACGTC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916242	T T	TGTGAAAC others(31): Show TGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0001 a0017c0024t0001	a0017c0024t0001g0271 a0017c0024t0001g0271	1	274	0.0037	38	c.179 others(57): Show c.1791+1928_1791+1929insCTCGACACGGTGGTTGAGATTAAGGA TGATGGTGAAAC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916404	C C	CGGCATGC others(31): Show CGGCATGCTGGTTGAGATTAAGGATGATTGTGAAACCTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	274	0.0037	38	c.179 others(57): Show c.1791+2084_1791+2085insGCATGCTGGTTGAGATTAAGGATGAT TGTGAAACCTGG		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916747	T T	TACACGCT others(31): Show TACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0235 a0001c0001t0019g0235	1	274	0.0037	38	c.179 others(57): Show c.1792-1917_1792-1880dupGACACGCTGGTTGACATTAAGGATGA TTGTGAAACGTC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916943	C C	CTGGTTGA others(31): Show CTGGTTGACGTTAAGGATGATTGTGAAACCTCGACACGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03942.hp2 HG02486.hp1 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0091 a0002c0002t0001g0048 a0002c0002t0001g0091	2	274	0.0073	38	c.179 others(57): Show c.1792-1789_1792-1788insGTTAAGGATGATTGTGAAACCTCGAC ACGGTGGTTGAC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158917051	G G	GACACGCT others(31): Show GACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp1 HG02280.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0188 a0001c0001t0009g0233 a0001c0001t0009g0188 a0001c0001t0009g0233	2	274	0.0073	38	c.179 others(57): Show c.1792-1654_1792-1617dupGTCTACACGCTGGTTGACATTAAGGA TGATTGTGAAAC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158917065	C C	CATTAAGG others(31): Show CATTAAGGATGATTGTGAAACCTCGACACGGTGGTTGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp2 HG01243.hp1 others(5): Show HG00733.hp2 HG01123.hp2 HG01243.hp1 HG01346.hp2 HG01516.hp1 HG01975.hp2 HG02273.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0040 a0002c0002t0001g0055 others(5): Show a0002c0002t0001g0033 a0002c0002t0001g0040 a0002c0002t0001g0055 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0080	8	274	0.0292	38	c.179 others(57): Show c.1792-1655_1792-1654insCTCGACACGGTGGTTGAGATTAAGGA TGATTGTGAAAC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	396	0.0025	38	c.75 others(47): Show c.757_*758insAAAATATATATATATATATATATATATATATATATA TA		DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding					404		chr6	TogoVar

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Search Results (Total: 5880 hits)