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
MYOZ2_chr4_119130832_119192789	119134260	A A	AGATAGAT others(36): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01361.hp1 HG02630.hp2 others(1): Show HG00280.hp1 HG01361.hp1 HG02630.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0060 a0001c0001t0001g0191 a0001c0001t0003g0159 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0191 a0001c0001t0003g0159 a0001c0002t0002g0302	4	394	0.0102	43	c.-17 others(54): Show c.-1737_-1736insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1571		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134260	A A	AGATAGAT others(36): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02155.hp2 HG02602.hp2 others(4): Show HG02132.hp2 HG02155.hp2 HG02602.hp2 NA18959.hp2 NA18967.hp1 NA18978.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0077 a0001c0001t0003g0249 a0001c0001t0003g0250 others(4): Show a0001c0001t0002g0077 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0002t0001g0234 a0001c0002t0001g0237 a0001c0002t0002g0187	7	394	0.0178	43	c.-17 others(54): Show c.-1737_-1736insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGATGGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1571		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134264	A A	AGATAGAT others(36): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG01358.hp2 others(2): Show HG01106.hp2 HG01255.hp1 HG01358.hp2 HG02055.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0043 a0001c0001t0001g0310 a0001c0001t0005g0161 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0310 a0001c0001t0005g0161 a0001c0002t0002g0301	5	394	0.0127	43	c.-17 others(54): Show c.-1733_-1732insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1567		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134264	A A	AGATAGAT others(36): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 NA18612.hp2 NA18963.hp2 others(2): Show HG02056.hp1 NA18612.hp2 NA18963.hp2 NA18994.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0009 a0001c0006t0001	a0001c0001t0001g0258 a0001c0001t0002g0116 a0001c0002t0001g0033 others(2): Show a0001c0001t0001g0258 a0001c0001t0002g0116 a0001c0002t0001g0033 a0001c0002t0009g0246 a0001c0006t0001g0247	5	394	0.0127	43	c.-17 others(54): Show c.-1733_-1732insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGATGGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1567		chr4	TogoVar
MYRFL_chr12_69820227_69964097	69877024	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp2 HG01891.hp1 others(6): Show HG01109.hp2 HG01361.hp2 HG01891.hp1 HG02280.hp2 HG02647.hp2 HG02809.hp2 HG02922.hp1 HG03579.hp2 NA18960.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0005c0008	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0005c0008t0004	a0001c0001t0001g0087 a0001c0003t0001g0255 a0001c0003t0001g0266 others(6): Show a0001c0001t0001g0087 a0001c0003t0001g0255 a0001c0003t0001g0266 a0001c0003t0001g0284 a0001c0003t0001g0291 a0002c0002t0002g0249 a0002c0002t0003g0256 a0002c0005t0002g0273 a0005c0008t0004g0290	9	322	0.0280	43	c.138 others(60): Show c.138-2002_138-2001insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19072.hp1 NA18993.hp2 NA19072.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0015 a0002c0005t0006 a0002c0005t0015	a0002c0005t0006g0246 a0002c0005t0015g0247 a0002c0005t0006g0246 a0002c0005t0015g0247	2	410	0.0049	43	c.68+ others(58): Show c.68+1882_68+1883insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0124 a0002c0002t0005g0124	1	410	0.0024	43	c.68+ others(58): Show c.68+1882_68+1883insAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA19058.hp2 NA19066.hp2 HG01981.hp2 NA19058.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0013 a0002c0002t0002 a0002c0002t0013	a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0013g0108 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0013g0108	3	410	0.0073	43	c.68+ others(58): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0076 a0002c0002t0005g0076	1	410	0.0024	43	c.68+ others(58): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYZAP_chr15_57586904_57690364	57669422	T T	TGGGGGGG others(36): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0147 a0001c0003t0003g0147	1	352	0.0028	43	c.120 others(62): Show c.1204-5545_1204-5544insGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGG	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57689163	A A	ATAATACA others(36): Show ATAATACACATATAATTGTATAATATACACATATATATGTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0152 a0001c0003t0003g0152	1	352	0.0028	43	c.46 others(54): Show c.4665_*4666insTAATACACATATAATTGTATAATATACACATATA TATGTATAC	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3800		chr15	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	394	0.0025	43	c.46 others(54): Show c.4671_*4672insTATATATATATATATATATATATATATTTTTTTT TTTTTTTTT	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NALF1_chr13_107158510_107872496	107254062	A A	AAAAAAAA others(36): Show AAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0035	1	128	0.0078	43	c.916 others(62): Show c.916-43308_916-43307insATATATATATATATATATATATATAT ATATATATTTTTTTTTT	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107340475	T T	TTCTTTCT others(36): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA20129.hp1 NA19011.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0068 a0001c0001t0011 a0001c0001t0068	a0001c0001t0011g0043 a0001c0001t0068g0030 a0001c0001t0011g0043 a0001c0001t0068g0030	2	128	0.0156	43	c.916 others(64): Show c.916-129721_916-129720insGAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAPEPLD_chr7_103094776_103154099	103099593	T T	TGTGTGTG others(36): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0030 a0001c0001t0010g0030	1	381	0.0026	43	c.38 others(54): Show c.3835_*3836insCACACACACACACACACACACACACACACACACA CACACACAC	NAPEPLD	ENSG00000161048.12	transcript	ENST00000465647.6	protein_coding		182		chr7	TogoVar
NBAS_chr2_15161916_15566334	15164810	T T	TGGGGATT others(36): Show TGGGGATTGGGGGGGGGGGGTGGAGGGGGGGTGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	224	0.0045	43	c.22 others(54): Show c.2237_*2238insCCCCCCCCCCCCACCCCCCCTCCACCCCCCCCCC CCAATCCCC	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding		2105		chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCTCCC others(36): Show GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	378	0.0027	43	c.148 others(62): Show c.1480-2580_1480-2579insTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667329	G G	GCCCTCCT others(36): Show GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0225 a0001c0005t0001g0225	1	378	0.0027	43	c.148 others(62): Show c.1480-2580_1480-2579insTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCLN_chr19_3180930_3214575	3212734	G G	GCGATCCC others(36): Show GCGATCCCCCCCCCCCCCCCCTCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	410	0.0024	43	c.50 others(54): Show c.5046_*5047insCGATCCCCCCCCCCCCCCCCTCCCCCCCCCCCCC CCCCCCCCC	NCLN	ENSG00000125912.11	transcript	ENST00000246117.9	protein_coding		3160		chr19	TogoVar
NCMAP_chr1_24551087_24614328	24604649	T T	TGTGTGTG others(36): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 HG02976.hp2 others(1): Show HG02559.hp1 HG02647.hp2 HG02976.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0030 a0002c0002t0004g0031 a0002c0002t0004g0033 others(1): Show a0002c0002t0004g0030 a0002c0002t0004g0031 a0002c0002t0004g0033 a0002c0002t0004g0148	4	402	0.0100	43	c.168 others(58): Show c.168-957_168-956insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATATAAAAA	NCMAP	ENSG00000184454.7	transcript	ENST00000374392.3	protein_coding	3/3			chr1	TogoVar
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(36): Show TATATATATATATATATATATATACACACACACATACACATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0239 a0001c0001t0010g0239	1	316	0.0032	43	c.-99 others(60): Show c.-99+9537_-99+9538insATATATATATATATATATATATACACAC ACACATACACATATA	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22			chr20	TogoVar
NDC80_chr18_2566557_2621635	2614564	G G	GAAGGAAG others(36): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAAAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0150 a0004c0004t0001g0150	1	402	0.0025	43	c.179 others(62): Show c.1792-1873_1792-1872insAAGGAAGGAAGGAAGGAAGGAAGGAA AAAAAGAAAGAAAGAAA	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16			chr18	TogoVar
NDEL1_chr17_8430884_8473163	8432347	A A	ATATATAT others(36): Show ATATATATATATATTATATATAAATATATATATATATATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	382	0.0026	43	c.-37 others(54): Show c.-3711_-3710insTATATATATATATTATATATAAATATATATATAT ATATATTAT	NDEL1	ENSG00000166579.16	transcript	ENST00000334527.12	protein_coding		3536		chr17	TogoVar
NDUFS1_chr2_206109817_206164444	206140930	A A	ATATATAT others(36): Show ATATATATATATATATATATATATACACACACACACATATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0078 a0001c0005t0078	a0001c0005t0078g0176 a0001c0005t0078g0176	1	336	0.0030	43	c.126 others(62): Show c.1262+1010_1262+1011insGTGTATATGTGTGTGTGTGTATATAT ATATATATATATATATA	NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding	12/18			chr2	TogoVar
NDUFS6_chr5_1796407_1821048	1802545	T T	TGACTTGT others(36): Show TGACTTGTTTCCCCCTGAAATACATAACATTGTAGCCGTAGTTC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	444	0.0023	43	c.186 others(58): Show c.186+172_186+214dupGACTTGTTTCCCCCTGAAATACATAACATT GTAGCCGTAGTTC	NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEGR1_chr1_71390943_72287539	71688328	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00597.hp1 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0036 a0001c0001t0018g0001 a0001c0001t0001g0036 a0001c0001t0018g0001	2	64	0.0313	43	c.667 others(60): Show c.667+9679_667+9680insATCTATCTATCTATCTATATATATATAT ATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	4/6			chr1	TogoVar
NEIL1_chr15_75342039_75362115	75361316	G G	GGGGGGGA others(36): Show GGGGGGGAGTTGAGGGTTGTAATGTGTTAGTTGTCATTAGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	396	0.0025	43	c.62 others(54): Show c.6282_*6283insGGGGGGAGTTGAGGGTTGTAATGTGTTAGTTGTC ATTAGGAGT	NEIL1	ENSG00000140398.14	transcript	ENST00000355059.9	protein_coding		4202		chr15	TogoVar
NELL1_chr11_20664586_21580686	20915718	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0038 a0001c0004t0001g0038	1	88	0.0114	43	c.604 others(60): Show c.604-2464_604-2463insATATATATATATATATATATATATATAT ATATATATATATATA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19			chr11	TogoVar
NELL1_chr11_20664586_21580686	20975630	C C	CATATATG others(36): Show CATATATGTATTATATAATGTATGTATTATATAATATACATATT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0026 a0001c0005t0002g0026	1	88	0.0114	43	c.130 others(64): Show c.1300+15172_1300+15214dupAATGTATGTATTATATAATATACA TATTATATATGTATTATAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20975676	A A	ATATGTAT others(36): Show ATATGTATTATATAATGTATGTATTATATAATATACATATTATG	intron_variant intron_variant	MODIFIER	HG01169.hp1 homoSapiens_chm13v2.hp1 HG01169.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0052 a0002c0003t0001g0060 a0002c0002t0001g0052 a0002c0003t0001g0060	2	88	0.0227	43	c.130 others(64): Show c.1300+15158_1300+15159insGTATGTATTATATAATGTATGTAT TATATAATATACATATTAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NEU4_chr2_241804193_241822413	241805314	C C	CGCAGGCC others(36): Show CGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGAACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	43	c.-39 others(54): Show c.-3964_-3963insGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCA GGAACCTCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3878		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805361	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	319	0.0031	43	c.-39 others(54): Show c.-3917_-3916insCCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3831		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805457	G G	GCCCAGGG others(36): Show GCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0037 a0001c0005t0001g0037	1	319	0.0031	43	c.-38 others(54): Show c.-3821_-3820insCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTC CCCCCTCAA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3735		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805556	A A	ACCTTCCC others(36): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	319	0.0031	43	c.-37 others(54): Show c.-3722_-3721insCCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCTT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3636		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805704	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	319	0.0031	43	c.-35 others(54): Show c.-3574_-3573insCCCTCCCTCCCCCCTCAACCCAGAGACCTCCGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3488		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805817	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	319	0.0031	43	c.-34 others(54): Show c.-3461_-3460insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3375		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806189	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	319	0.0031	43	c.-30 others(54): Show c.-3089_-3088insCCCTCCCTCCCCCCTCAACCCAGGGACGTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3003		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806224	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	319	0.0031	43	c.-30 others(54): Show c.-3054_-3053insCCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2968		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806298	A A	ACTCTCCC others(36): Show ACTCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	319	0.0031	43	c.-29 others(54): Show c.-2980_-2979insCTCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2894		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806454	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	319	0.0031	43	c.-28 others(54): Show c.-2824_-2823insCCCTCCCTCCCCCCTCAACCCAGAGACCTCCGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2738		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806532	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0027 a0002c0003t0002g0027	1	319	0.0031	43	c.-27 others(54): Show c.-2746_-2745insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2660		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806645	A A	ACCCTCCC others(36): Show ACCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	319	0.0031	43	c.-26 others(54): Show c.-2633_-2632insCCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2547		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806704	G G	GGACCTCT others(36): Show GGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0177 a0002c0003t0002g0177	1	319	0.0031	43	c.-25 others(54): Show c.-2574_-2573insGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCT CAACCCAGA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2488		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806758	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0044 a0002c0003t0002g0044	1	319	0.0031	43	c.-25 others(54): Show c.-2520_-2519insCCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2434		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807023	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	43	c.-22 others(54): Show c.-2255_-2254insCCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2169		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807023	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0155 a0001c0004t0001g0155	1	319	0.0031	43	c.-22 others(54): Show c.-2255_-2254insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2169		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807499	C C	CCTCAGCC others(36): Show CCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCTCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0068	1	319	0.0031	43	c.-17 others(54): Show c.-1779_-1778insCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCT CCCTCCCCG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1693		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807970	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	319	0.0031	43	c.-13 others(54): Show c.-1308_-1307insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACTCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1222		chr2	TogoVar
NEU4_chr2_241804193_241822413	241808009	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	1	319	0.0031	43	c.-12 others(54): Show c.-1269_-1268insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1183		chr2	TogoVar
NEU4_chr2_241804193_241822413	241808083	A A	ACCCTCCC others(36): Show ACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	319	0.0031	43	c.-11 others(54): Show c.-1195_-1194insCCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCA GGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1109		chr2	TogoVar

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Search Results (Total: 2299 hits)