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
LAMA5_chr20_62304065_62372312	62309634	A A	AGGGTGGG others(39): Show AGGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGTGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0025 a0025	a0025c0016 a0025c0016	a0025c0016t0001 a0025c0016t0001	a0025c0016t0001g0029 a0025c0016t0001g0029	1	186	0.0054	46	c.109 others(63): Show c.10948+81_10948+82insACCCCCTCCCACCCCCCACCCCTCCACC CCCTGCCCCCTCCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309635	G G	GGGTGGGA others(39): Show GGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGTGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01175.hp2 others(11): Show HG00642.hp1 HG00642.hp2 HG01175.hp2 HG01515.hp1 HG02257.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG03453.hp1 HG03579.hp2 HG03688.hp2 HG04115.hp2 NA18906.hp1 NA19043.hp2	a0000 a0002 a0003 others(9): Show a0000 a0002 a0003 a0005 a0015 a0031 a0032 a0034 a0051 a0052 a0057 a0095	a0000c0034 a0000c0096 a0002c0125 others(10): Show a0000c0034 a0000c0096 a0002c0125 a0003c0064 a0005c0108 a0015c0020 a0031c0070 a0032c0069 a0034c0106 a0051c0117 a0052c0118 a0057c0052 a0095c0136	a0000c0034t0001 a0000c0096t0002 a0002c0125t0001 others(10): Show a0000c0034t0001 a0000c0096t0002 a0002c0125t0001 a0003c0064t0001 a0005c0108t0001 a0015c0020t0001 a0031c0070t0001 a0032c0069t0001 a0034c0106t0001 a0051c0117t0001 a0052c0118t0001 a0057c0052t0001 a0095c0136t0001	a0000c0034t0001g0175 a0000c0096t0002g0089 a0002c0125t0001g0027 others(11): Show a0000c0034t0001g0175 a0000c0096t0002g0089 a0002c0125t0001g0027 a0003c0064t0001g0084 a0005c0108t0001g0148 a0015c0020t0001g0151 a0015c0020t0001g0153 a0031c0070t0001g0050 a0032c0069t0001g0069 a0034c0106t0001g0154 a0051c0117t0001g0072 a0052c0118t0001g0074 a0057c0052t0001g0017 a0095c0136t0001g0186	14	186	0.0753	46	c.109 others(63): Show c.10948+80_10948+81insACCCCCTCCCACCCCCCCACCCCTCCAC CCCCTGCCCCCTCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309636	G G	GGTGGGAG others(39): Show GGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGGTGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 NA18906.hp2 HG02258.hp1 HG02572.hp2 NA18906.hp2	a0000 a0024 a0055 a0000 a0024 a0055	a0000c0065 a0024c0017 a0055c0133 a0000c0065 a0024c0017 a0055c0133	a0000c0065t0001 a0024c0017t0001 a0055c0133t0001 a0000c0065t0001 a0024c0017t0001 a0055c0133t0001	a0000c0065t0001g0041 a0024c0017t0001g0158 a0055c0133t0001g0057 a0000c0065t0001g0041 a0024c0017t0001g0158 a0055c0133t0001g0057	3	186	0.0161	46	c.109 others(63): Show c.10948+79_10948+80insACCCCCTCCCACCCCCCCCACCCCTCCA CCCCCTGCCCCCTCCCAC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79			chr20	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	336	0.0030	46	c.813 others(61): Show c.813+418_813+419insGTGTGTGTGTGTATATATATATATATATAT ATATATATATATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4_chr12_50395885_50485004	50446354	T T	TCTCTCTC others(39): Show TCTCTCTCTCTCTCTCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0179 a0003c0003t0001g0179	1	318	0.0031	46	c.804 others(63): Show c.804+4726_804+4727insCCCCCCCCTTCCCCTCCCCCTCCCCCTC TCCCTCTCTCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446356	T T	TCTCTCTC others(39): Show TCTCTCTCTCTCTCTCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	318	0.0031	46	c.804 others(63): Show c.804+4728_804+4729insCCCCCCCCTTCCCCTCCCCCTCCCCCTC TCCCTCTCTCTCTCTCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446364	T T	TCTCCCCC others(39): Show TCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19054.hp1 NA20129.hp2 HG01167.hp1 NA19054.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0243 a0001c0001t0001g0244 a0004c0004t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0004c0004t0001g0241	3	318	0.0094	46	c.804 others(63): Show c.804+4724_804+4725insCCCCCCCCTCCCCCTCCCCCTCCCCCTT CCCCTCCCCCTCTCCCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446366	T T	TCTCCCCC others(39): Show TCTCCCCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02622.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0034 a0001c0001t0003g0029 a0001c0001t0003g0034	2	318	0.0063	46	c.804 others(63): Show c.804+4726_804+4727insCCCCCCCCTCCCCCTCCCCCTTCCCCTC CCCCTCCCCCTCTCCCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446368	T T	TCTCCCCC others(39): Show TCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	318	0.0031	46	c.804 others(63): Show c.804+4728_804+4729insCCCCCCCCTCCCCCTCCCCCTCCCCCTT CCCCTCCCCCTCTCCCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446370	T T	TCTCCCCC others(39): Show TCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18959.hp1 HG02293.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0204 a0001c0001t0001g0004 a0001c0001t0001g0204	2	318	0.0063	46	c.804 others(63): Show c.804+4730_804+4731insCCCCCCCCTCCCCCTCCCCCTCCCCCTT CCCCTCCCCCTCTCCCTC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LCMT1_chr16_25106742_25183228	25135284	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	348	0.0029	46	c.327 others(63): Show c.327+2762_327+2763insAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATA	LCMT1	ENSG00000205629.12	transcript	ENST00000399069.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
LCN15_chr9_136754634_136769518	136769194	A A	ACCCCCCC others(39): Show ACCCCCCCATGCACTGCCCCCCCCGCCACCCCCCCATGCACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	46	c.-47 others(57): Show c.-4707_-4706insGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGCAG TGCATGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4677		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769477	A A	ACCCCTCC others(39): Show ACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	46	c.-49 others(57): Show c.-4990_-4989insGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAG TGCATGGAGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4960		chr9	TogoVar
LCN9_chr9_135658309_135671961	135670634	A A	ACTCTGCC others(39): Show ACTCTGCCCAGATCAAACCTGGTGGGCGCTTCAGGTTCTTCATCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	424	0.0024	46	c.47 others(57): Show c.4783_*4784insCTCTGCCCAGATCAAACCTGGTGGGCGCTTCAGG TTCTTCATCACT	LCN9	ENSG00000148386.10	transcript	ENST00000619315.2	protein_coding		3674		chr9	TogoVar
LCOR_chr10_96827298_97000956	96920434	G G	GTATATAT others(39): Show GTATATATGTATATATATTCATATATATGTGTATATATATATATTCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18522.hp2 HG01243.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0120 a0001c0001t0032 a0001c0001t0120	a0001c0001t0032g0012 a0001c0001t0120g0003 a0001c0001t0032g0012 a0001c0001t0120g0003	2	288	0.0069	46	c.-18 others(67): Show c.-184+12696_-184+12697insATATATATTCATATATATGTGTAT ATATATATATTCATATATATGT	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LCOR_chr10_96827298_97000956	96920442	G G	GTATATAT others(39): Show GTATATATATTCATATATATGTGTATATATATGTATATTCATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG03540.hp1 HG02922.hp2 HG02976.hp1 HG03540.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0106 a0005c0006t0040 a0005c0006t0060 a0001c0001t0106 a0005c0006t0040 a0005c0006t0060	a0001c0001t0106g0286 a0005c0006t0040g0288 a0005c0006t0060g0287 a0001c0001t0106g0286 a0005c0006t0040g0288 a0005c0006t0060g0287	3	288	0.0104	46	c.-18 others(67): Show c.-184+12696_-184+12697insATATATATTCATATATATGTGTAT ATATATGTATATTCATATATAT	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LEMD3_chr12_65164583_65253355	65180989	A A	AACACACA others(39): Show AACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	398	0.0025	46	c.152 others(65): Show c.1522+9892_1522+9893insCACACACACACACACACACACACACA CACACACACACACACACACA	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
LEPR_chr1_65415668_65646559	65613766	A A	AAAAAGAA others(39): Show AAAAAGAAAAAAAAAAAGATTCAACAGGAGAACAACCCAGTTAAAAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0025 a0002c0025t0025	a0002c0025t0025g0015 a0002c0025t0025g0015	1	216	0.0046	46	c.199 others(65): Show c.1996-2238_1996-2237insGAAAAAAAAAAAGATTCAACAGGAGA ACAACCCAGTTAAAATAAAA	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104430390	A A	ATATACAT others(39): Show ATATACATGTATATATATATACGTGTATATATATATATATATACATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02293.hp1 HG01070.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0031 a0001c0001t0007g0032 a0001c0001t0005g0031 a0001c0001t0007g0032	2	86	0.0233	46	c.445 others(67): Show c.445+101170_445+101171insCATGTATATATATATACGTGTATA TATATATATATATACATGTATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104430392	A A	ATATACAT others(39): Show ATATACATGTATATATATATATATACGTGTATATATATATATACATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0008 a0001c0002t0012g0008	1	86	0.0116	46	c.445 others(67): Show c.445+101172_445+101173insCATGTATATATATATATATACGTG TATATATATATATACATGTATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104430394	A A	ACATGTAT others(39): Show ACATGTATATATATATATATACGTGTATATATATATATATATACATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG03017.hp1 others(1): Show HG00099.hp1 HG00639.hp2 HG03017.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0050 a0001c0001t0002g0077 a0001c0001t0003g0055 others(1): Show a0001c0001t0002g0050 a0001c0001t0002g0077 a0001c0001t0003g0055 a0001c0001t0003g0078	4	86	0.0465	46	c.445 others(67): Show c.445+101170_445+101171insCATGTATATATATATATATACGTG TATATATATATATATATACATG	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2			chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104497931	G G	GCCAAAGG others(39): Show GCCAAAGGCCTGGGTTTTAGGGAGGGGAACCCTAGGTGTGGGGTGAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02257.hp2 HG02280.hp1 others(3): Show HG00558.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp2 HG02897.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0003t0002	a0001c0001t0001g0043 a0001c0001t0003g0070 a0001c0001t0004g0028 others(3): Show a0001c0001t0001g0043 a0001c0001t0003g0070 a0001c0001t0004g0028 a0001c0001t0004g0083 a0001c0001t0009g0076 a0001c0003t0002g0065	6	86	0.0698	46	c.445 others(67): Show c.445+168732_445+168777dupGGAACCCTAGGTGTGGGGTGAACC AAAGGCCTGGGTTTTAGGGAGG	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LIMD1_chr3_45589751_45691341	45594778	A A	AACACACA others(39): Show AACACACACACACACACACACACACACACACACACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG01891.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0053 a0001c0007t0204 a0001c0001t0053 a0001c0007t0204	a0001c0001t0053g0139 a0001c0007t0204g0002 a0001c0001t0053g0139 a0001c0007t0204g0002	2	358	0.0056	46	c.-81 others(53): Show c.-81_-36dupACACACACACACACACACACACACACACACACACACAC ACACACAC	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding	1/8	35	INFO_REALIGN_3_PRIME	chr3	TogoVar
LIN28B_chr6_104952107_105088332	105023484	A A	ATATATAA others(39): Show ATATATAATATATATAATTATATTATATATAATATATATAATTATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG06807.hp2 NA18946.hp1 others(4): Show HG01943.hp1 HG06807.hp2 NA18946.hp1 NA18949.hp1 NA19011.hp2 NA19062.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0001 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0055 a0001c0001t0001g0232 a0001c0001t0003g0072 others(4): Show a0001c0001t0001g0055 a0001c0001t0001g0232 a0001c0001t0003g0072 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0231 a0001c0001t0021g0230	7	278	0.0252	46	c.199 others(63): Show c.199-2786_199-2785insTAATATATATAATTATATTATATAATAT ATATAATTATATTATATA	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIN54_chr4_82919603_83015823	82941149	G G	GATATATA others(39): Show GATATATATATAGATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0113	1	304	0.0033	46	c.116 others(65): Show c.1169-1188_1169-1187insATATATATATATATATATATATATAT ATATATATCTATATATATAT	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	5/12			chr4	TogoVar
LINGO2_chr9_27932617_29218601	28837649	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18990.hp2 HG01071.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0033 a0001c0001t0004g0022 a0001c0001t0004g0033	2	62	0.0323	46	c.-39 others(69): Show c.-395+110168_-395+110169insATATATATATATATATATATAT ATATATATATATATATATATATAT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	29072611	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0023 a0001c0001t0032g0023	1	62	0.0161	46	c.-49 others(69): Show c.-491-124698_-491-124697insTATATATATATATATATATATA TATATATATATATATATATATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	1/6			chr9	TogoVar
LMAN2_chr5_177326567_177356668	177326814	G G	GAAGAAAG others(39): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	376	0.0027	46	c.52 others(57): Show c.5271_*5272insTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding		4752		chr5	TogoVar
LMAN2_chr5_177326567_177356668	177343584	C C	CACACACA others(39): Show CACACACACACACACGGAATGTGGTCTAGACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	376	0.0027	46	c.316 others(63): Show c.316-4980_316-4979insTTGTGTGTGTGTGTGTGTCTAGACCACA TTCCGTGTGTGTGTGTGT	LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	2/7			chr5	TogoVar
LMAN2_chr5_177326567_177356668	177343584	C C	CACACACA others(39): Show CACACACACACACGGAATGTGGTCTAGACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19030.hp1 HG02258.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	376	0.0053	46	c.316 others(63): Show c.316-4980_316-4979insTTGTGTGTGTGTGTGTGTGTCTAGACCA CATTCCGTGTGTGTGTGT	LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	2/7			chr5	TogoVar
LMF1_chr16_848634_975984	857429	C C	CAGTGGTG others(39): Show CAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp1 HG02976.hp1 HG03516.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0117 a0009c0024t0001g0118 a0009c0024t0001g0117 a0009c0024t0001g0118	2	294	0.0068	46	c.153 others(65): Show c.1530-2724_1530-2723insCACACCCGTCCCGAGACACCACTCAC ACCCATCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857462	T T	TCGGGACG others(39): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0014 a0003c0015t0001g0014	1	294	0.0034	46	c.153 others(65): Show c.1530-2757_1530-2756insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857976	T T	TGGGTGTG others(39): Show TGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0284 a0001c0006t0001g0284	1	294	0.0034	46	c.153 others(65): Show c.1530-3271_1530-3270insGTCCCGAGACACCACGCACACCCGTC CCGAGACACCACGCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857984	C C	CGTGGTGT others(39): Show CGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02109.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0002t0001g0021 a0001c0001t0001g0024 a0001c0002t0001g0021	2	294	0.0068	46	c.153 others(65): Show c.1530-3279_1530-3278insTCACACCCGTCCCGAGACACCACGCA CACCCGTCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858053	C C	CGTGGTGT others(39): Show CGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0009 a0003c0014t0001g0009	1	294	0.0034	46	c.153 others(65): Show c.1530-3348_1530-3347insCACACCCATCCCGAGACACCACTGCA CACCCATCCCGTGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858054	A A	AGTGGTGT others(39): Show AGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0001 a0001c0067t0001	a0001c0067t0001g0056 a0001c0067t0001g0056	1	294	0.0034	46	c.153 others(65): Show c.1530-3349_1530-3348insGCACACCCATCCCGAGACACCACGCA CACCCATCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858161	T T	TGGGTGTG others(39): Show TGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0004 a0007c0028t0004	a0007c0028t0004g0265 a0007c0028t0004g0265	1	294	0.0034	46	c.153 others(65): Show c.1530-3456_1530-3455insGTCCCGTGACACCACGCACACCCATC CCGAGACACCACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858169	C C	CGTGGTGT others(39): Show CGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCACGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp1 HG01243.hp1 HG03195.hp1	a0007 a0014 a0007 a0014	a0007c0028 a0014c0040 a0007c0028 a0014c0040	a0007c0028t0004 a0014c0040t0004 a0007c0028t0004 a0014c0040t0004	a0007c0028t0004g0017 a0014c0040t0004g0270 a0007c0028t0004g0017 a0014c0040t0004g0270	2	294	0.0068	46	c.153 others(65): Show c.1530-3464_1530-3463insTCACACCCGTCCCGTGACACCACGCA CACCCATCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858238	A A	AGTGGTGT others(39): Show AGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0023 a0001c0008t0001g0023	1	294	0.0034	46	c.153 others(65): Show c.1530-3533_1530-3532insGCACACCCATCCCGAGACACCACTCA CACCCATCCCGTGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858260	G G	GAGTGGTG others(39): Show GAGTGGTGACTCGGGATCGGTGTGCAGTGGTGTCTCGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0195 a0001c0003t0001g0195	1	294	0.0034	46	c.153 others(65): Show c.1530-3555_1530-3554insACACCCATCCCGAGACACCACTGCAC ACCGATCCCGAGTCACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858260	G G	GAGTGGTG others(39): Show GAGTGGTGACTCGGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0157 a0001c0011t0001g0157	1	294	0.0034	46	c.153 others(65): Show c.1530-3555_1530-3554insACACCCGTCCCGAGACACCACTGCAC ACCCATCCCGAGTCACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858260	G G	GAGTGGTG others(39): Show GAGTGGTGACTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01975.hp1 HG02273.hp1 HG01952.hp2 HG01975.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0174 a0001c0001t0001g0219 a0001c0005t0001g0111 a0001c0001t0001g0174 a0001c0001t0001g0219 a0001c0005t0001g0111	3	294	0.0102	46	c.153 others(65): Show c.1530-3555_1530-3554insACACCCATCCCGAGACACCACTGCAC ACCCATCCCGAGTCACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858612	G G	GAGTGGTG others(39): Show GAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0276 a0001c0010t0001g0276	1	294	0.0034	46	c.153 others(65): Show c.1530-3907_1530-3906insACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCCTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858892	C C	CAGTGATG others(39): Show CAGTGATGTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG03195.hp1 HG00733.hp1 HG01243.hp1 HG03195.hp1	a0007 a0014 a0007 a0014	a0007c0028 a0014c0040 a0007c0028 a0014c0040	a0007c0028t0004 a0014c0040t0004 a0007c0028t0004 a0014c0040t0004	a0007c0028t0004g0017 a0007c0028t0004g0265 a0014c0040t0004g0270 a0007c0028t0004g0017 a0007c0028t0004g0265 a0014c0040t0004g0270	3	294	0.0102	46	c.153 others(65): Show c.1530-4187_1530-4186insCACACCCATCCCGTGACACCACTCAC ACCCATCCCGTGACATCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858987	G G	GAGTGGTG others(39): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0289 a0001c0002t0002g0289	1	294	0.0034	46	c.153 others(65): Show c.1530-4282_1530-4281insACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859105	C C	CAGTGGTG others(39): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG00099.hp2 HG00733.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0001 a0003c0009t0001g0004 a0003c0009t0001g0001 a0003c0009t0001g0004	2	294	0.0068	46	c.153 others(65): Show c.1530-4400_1530-4399insCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	904457	C C	CGTCTCTG others(39): Show CGTCTCTGCTGCGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	294	0.0034	46	c.663 others(63): Show c.663+6473_663+6474insAGGCGTCCTGTGGGCGATGCAGAGGTCA CCACCACGCAGCAGAGAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	917338	A A	ACTGCGGG others(39): Show ACTGCGGGCGGGCGCAGGCCCACGTGAAGAAATGCCACACGTGTGCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03139.hp1 HG03579.hp1 others(3): Show HG00597.hp2 HG03139.hp1 HG03579.hp1 NA18906.hp2 NA18944.hp1 NA19043.hp1	a0001 a0010 a0018 a0001 a0010 a0018	a0001c0001 a0001c0018 a0001c0060 others(2): Show a0001c0001 a0001c0018 a0001c0060 a0010c0047 a0018c0058	a0001c0001t0001 a0001c0001t0019 a0001c0018t0001 others(3): Show a0001c0001t0001 a0001c0001t0019 a0001c0018t0001 a0001c0060t0002 a0010c0047t0010 a0018c0058t0001	a0001c0001t0001g0247 a0001c0001t0019g0258 a0001c0018t0001g0242 others(3): Show a0001c0001t0001g0247 a0001c0001t0019g0258 a0001c0018t0001g0242 a0001c0060t0002g0128 a0010c0047t0010g0281 a0018c0058t0001g0236	6	294	0.0204	46	c.515 others(63): Show c.515-6260_515-6259insCGCACACGTGTGGCATTTCTTCACGTGG GCCTGCGCCCGCCCGCAG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMF1_chr16_848634_975984	917346	T T	TGGGCGCA others(39): Show TGGGCGCAGGCCCACGTGAAGAAATGCCACACGTGTGCGCTGCGGGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02698.hp2 HG03225.hp1 others(2): Show HG00609.hp2 HG02698.hp2 HG03225.hp1 NA18950.hp1 NA18967.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0011 a0002c0007 others(1): Show a0001c0001 a0001c0011 a0002c0007 a0007c0046	a0001c0001t0002 a0001c0011t0001 a0002c0007t0001 others(1): Show a0001c0001t0002 a0001c0011t0001 a0002c0007t0001 a0007c0046t0004	a0001c0001t0002g0229 a0001c0011t0001g0155 a0002c0007t0001g0148 others(2): Show a0001c0001t0002g0229 a0001c0011t0001g0155 a0002c0007t0001g0148 a0002c0007t0001g0149 a0007c0046t0004g0036	5	294	0.0170	46	c.515 others(63): Show c.515-6313_515-6268dupGCCCGCAGCGCACACGTGTGGCATTTCT TCACGTGGGCCTGCGCCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMF1_chr16_848634_975984	917489	G G	GCAGGCCC others(39): Show GCAGGCCCACGTGAAGAAATGCCACACGTGTGCGCTGCGGGCGGGCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0049 a0006c0049	a0006c0049t0001 a0006c0049t0001	a0006c0049t0001g0243 a0006c0049t0001g0243	1	294	0.0034	46	c.515 others(63): Show c.515-6411_515-6410insAGCCCGCCCGCAGCGCACACGTGTGGCA TTTCTTCACGTGGGCCTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar

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Search Results (Total: 3221 hits)