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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
NSD1_chr5_177128773_177305213	177158293	C C	CTTTCTTT others(16): Show CTTTCTTTTCTTTCTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0198 a0001c0001t0048g0198	1	298	0.0034	23	c.927 others(42): Show c.927+22270_927+22271insTCTTTCTTTTCTTTCTTTTCTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177158998	T T	TTATATAT others(16): Show TTATATATATATATATATGAATGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG02572.hp1 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0051 a0001c0003t0028 a0001c0003t0051	a0001c0003t0028g0136 a0001c0003t0051g0120 a0001c0003t0028g0136 a0001c0003t0051g0120	2	298	0.0067	23	c.927 others(42): Show c.927+22985_927+22986insGAATGATATATATATATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177158998	T T	TTATATAT others(16): Show TTATATATATATATATGAATGATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0020 a0004c0013t0020	a0004c0013t0020g0103 a0004c0013t0020g0103	1	298	0.0034	23	c.927 others(42): Show c.927+22983_927+22984insGAATGATATATATATATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177158999	T T	TATATATA others(16): Show TATATATATATATATATATGAATG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0049 a0001c0003t0049	a0001c0003t0049g0111 a0001c0003t0049g0111	1	298	0.0034	23	c.927 others(42): Show c.927+22987_927+22988insGAATGATATATATATATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177185730	T T	TATATATT others(16): Show TATATATTTTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0049 a0001c0003t0049	a0001c0003t0049g0111 a0001c0003t0049g0111	1	298	0.0034	23	c.928 others(40): Show c.928-6137_928-6115dupATATATAATATATTTTATATATT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSRP1_chr17_30111816_30191475	30122386	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	282	0.0036	23	c.114 others(40): Show c.114+4213_114+4214insATATATATATATATATATATATA	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6			chr17	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	346	0.0029	23	c.658 others(40): Show c.658-4615_658-4614insATATATATATATATATATATTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG01346.hp1 others(2): Show HG00639.hp2 HG00733.hp2 HG01346.hp1 HG03942.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0062	5	346	0.0145	23	c.658 others(40): Show c.658-4615_658-4614insATATATATATATATATATATATT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02630.hp1 HG02738.hp2 HG01175.hp1 HG02630.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0012 a0001c0001t0001g0126 a0001c0001t0010g0054 a0001c0001t0001g0012 a0001c0001t0001g0126 a0001c0001t0010g0054	3	346	0.0087	23	c.658 others(40): Show c.658-4615_658-4614insATATATATATATATATATATATA	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C1A_chr1_39646229_39677107	39664470	T T	TCTCCCCA others(16): Show TCTCCCCAGAGTGGATTTCTCCTC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18987.hp2 NA18978.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0103 a0001c0001t0101 a0001c0001t0103	a0001c0001t0101g0310 a0001c0001t0103g0309 a0001c0001t0101g0310 a0001c0001t0103g0309	2	326	0.0061	23	c.433 others(40): Show c.433+1028_434-1037dupGAGGAGAAATCCACTCTGGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C3B_chr17_41820057_41841232	41836289	T T	TGGTGGGG others(16): Show TGGTGGGGCCGGGGGCGGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01168.hp2 others(24): Show HG01074.hp1 HG01109.hp2 HG01168.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp1 HG01981.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02717.hp1 HG02895.hp2 HG02970.hp1 HG03491.hp1 HG03492.hp2 HG03834.hp2 NA18939.hp2 NA18965.hp2 NA18969.hp1 NA18995.hp1 NA19000.hp1 NA19011.hp2 NA19067.hp1 NA19082.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0021 a0002c0002t0001g0035 others(6): Show a0002c0002t0001g0004 a0002c0002t0001g0021 a0002c0002t0001g0035 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0089	27	368	0.0734	23	c.-11 others(31): Show c.-119_-97dupCCCGCCCCGCCCCCGGCCCCACC	NT5C3B	ENSG00000141698.17	transcript	ENST00000435506.7	protein_coding		58		chr17	TogoVar
NTF3_chr12_5427108_5500299	5481637	A A	ACACATAC others(16): Show ACACATACACCAAACAGACACACT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02717.hp1 HG02723.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0348 a0002c0003t0001g0168 a0001c0001t0001g0348 a0002c0003t0001g0168	2	370	0.0054	23	c.19- others(40): Show c.19-12557_19-12556insCACATACACCAAACAGACACACT	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1			chr12	TogoVar
NTF4_chr19_49056128_49069818	49056157	T T	TTAATGAG others(16): Show TTAATGAGTGCGAGCCCACCTAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	23	c.51 others(34): Show c.5185_*5207dupCCTAGGTGGGCTCGCACTCATTA	NTF4	ENSG00000225950.9	transcript	ENST00000593537.2	protein_coding		4970		chr19	TogoVar
NTM_chr11_131365615_132341822	131424600	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03516.hp2 NA20300.hp1 HG01169.hp1 HG03516.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0011 a0001c0001t0001 a0001c0001t0002 a0002c0003t0011	a0001c0001t0001g0024 a0001c0001t0002g0020 a0002c0003t0011g0052 a0001c0001t0001g0024 a0001c0001t0002g0020 a0002c0003t0011g0052	3	86	0.0349	23	c.82+ others(40): Show c.82+53730_82+53731insTTTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131432839	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02109.hp2 HG06807.hp2 others(1): Show HG00741.hp1 HG02109.hp2 HG06807.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 a0002c0003t0006	a0001c0001t0001g0060 a0001c0001t0007g0059 a0001c0002t0003g0016 others(1): Show a0001c0001t0001g0060 a0001c0001t0007g0059 a0001c0002t0003g0016 a0002c0003t0006g0011	4	86	0.0465	23	c.82+ others(40): Show c.82+61961_82+61983dupTTTTTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131789494	A A	AAGAAGAA others(16): Show AAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	86	0.0116	23	c.83- others(42): Show c.83-122069_83-122068insGAAGAAGAAGAAGAAGAAGAAGA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCACACA others(16): Show CTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0191 a0001c0006t0001g0191	1	258	0.0039	23	c.101 others(44): Show c.1018+14874_1018+14875insTCACACACACACACACACACACA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN1_chr17_9016510_9249000	9193938	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01099.hp1 others(6): Show HG00099.hp1 HG00140.hp1 HG01099.hp1 HG02683.hp2 HG02738.hp2 HG04228.hp1 NA18983.hp1 NA19004.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0036 a0001c0001t0041 a0001c0001t0056	a0001c0001t0001g0042 a0001c0001t0001g0199 a0001c0001t0001g0235 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0199 a0001c0001t0001g0235 a0001c0001t0007g0240 a0001c0001t0009g0188 a0001c0001t0015g0195 a0001c0001t0036g0082 a0001c0001t0041g0039 a0001c0001t0056g0238	9	258	0.0349	23	c.141 others(44): Show c.1411+10975_1411+10976insAAAAAAAAAAAAAAAACAAAAAA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9193938	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	258	0.0039	23	c.141 others(44): Show c.1411+10975_1411+10976insAAAAAAAAAAAACAAACAAAAAA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN4_chr12_95652807_95795764	95770988	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0072 a0001c0001t0012g0072	1	324	0.0031	23	c.585 others(42): Show c.585+15950_585+15951insAAAAAAAAAAAAAAAAAAAAAAA	NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	2/9			chr12	TogoVar
NTNG1_chr1_107136039_107489923	107290982	T T	TTATATAT others(16): Show TTATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0041 a0001c0001t0007g0042	2	150	0.0133	23	c.247 others(42): Show c.247-33300_247-33299insTATATATATATATATATATACAC	NTNG1	ENSG00000162631.20	transcript	ENST00000370068.6	protein_coding	2/7			chr1	TogoVar
NTRK2_chr9_84664729_85032054	84888982	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0148 a0001c0001t0010g0148	1	170	0.0059	23	c.163 others(44): Show c.1633+21555_1633+21577dupTTTTTTTTTTTTTTTTTTTTTTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTSR1_chr20_62703836_62767771	62767574	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAGAGAGAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	316	0.0032	23	c.73 others(34): Show c.7307_*7308insAAGAAAGAAAGAGAGAGAGAAAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4804		chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767609	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAGAGAGAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0133 a0006c0014t0001g0133	1	316	0.0032	23	c.73 others(34): Show c.7342_*7343insAAGAAAGAAAGAGAGAGAGAAAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4839		chr20	TogoVar
NTSR1_chr20_62703836_62767771	62767664	G G	GAGAAAGA others(16): Show GAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0038 a0001c0001t0051g0038	1	316	0.0032	23	c.73 others(34): Show c.7397_*7398insAGAAAGAAAGAAAGAAAGAAAGA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4894		chr20	TogoVar
NTS_chr12_85869295_85887992	85879249	T T	TTTTATAT others(16): Show TTTTATATATATTTTATGTACGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	420	0.0024	23	c.360 others(38): Show c.360+680_360+681insTTTATATATATTTTATGTACGTA	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3			chr12	TogoVar
NUCKS1_chr1_205707822_205755182	205732779	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp2 NA18522.hp1 HG02257.hp1 HG02723.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0028 a0001c0001t0009g0286 a0001c0001t0009g0028 a0001c0001t0009g0286	3	368	0.0082	23	c.18- others(38): Show c.18-3159_18-3158insTTTTTTTTTTTTTTTTTTTTTTT	NUCKS1	ENSG00000069275.13	transcript	ENST00000367142.5	protein_coding	1/6			chr1	TogoVar
NUDC_chr1_26916743_26951871	26936166	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	254	0.0039	23	c.160 others(40): Show c.160-5291_160-5290insATATATATATATATATATATATA	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8			chr1	TogoVar
NUDT13_chr10_73105455_73136823	73116876	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0171 a0002c0002t0003g0171	1	324	0.0031	23	c.83+ others(38): Show c.83+2434_83+2456dupTTTTTTTTTTTTTTTTTTTTTTT	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NUDT17_chr1_145840630_145853954	145842809	A A	AGATAGAT others(16): Show AGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG01884.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0003g0005 a0001c0001t0001g0005 a0001c0001t0003g0005	2	406	0.0049	23	c.-28 others(34): Show c.-2832_-2831insGATAGATAGATAGATAGATAGAT	NUDT17	ENSG00000186364.12	transcript	ENST00000334513.6	protein_coding		2820		chr1	TogoVar
NUDT17_chr1_145840630_145853954	145842814	G G	GATAGATA others(16): Show GATAGATAGATAGATAGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	406	0.0025	23	c.-28 others(34): Show c.-2827_-2826insATAGATAGATAGATAGATAGATA	NUDT17	ENSG00000186364.12	transcript	ENST00000334513.6	protein_coding		2815		chr1	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03927.hp2 NA20905.hp1 HG02698.hp1 HG03927.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	400	0.0075	23	c.88 others(32): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		458		chr8	TogoVar
NUDT1_chr7_2237226_2256145	2252695	C C	CCACCCCT others(16): Show CCACCCCTGCCCTCTTGCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG02615.hp1 others(11): Show HG01081.hp2 HG01109.hp1 HG02615.hp1 HG02723.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0032 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0065	14	414	0.0338	23	c.16 others(34): Show c.1694_*1695insCACCCCTGCCCTCTTGCTCTCCT	NUDT1	ENSG00000106268.16	transcript	ENST00000356714.6	protein_coding		1551		chr7	TogoVar
NUDT21_chr16_56424133_56456332	56435742	A A	AATTATAT others(16): Show AATTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	414	0.0024	23	c.472 others(38): Show c.472-914_472-913insATATATATATATATATATATAAT	NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding	4/6			chr16	TogoVar
NUDT2_chr9_34324569_34348699	34338327	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG01081.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	2	436	0.0046	23	c.-15 others(40): Show c.-151-378_-151-356dupAAAAAAAAAAAAAAAAAAAAAAA	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT3_chr6_34274679_34397669	34297759	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0120 a0001c0001t0043g0120	1	270	0.0037	23	c.211 others(40): Show c.211-2075_211-2074insAAAAAAAAATATATATATATATA	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	270	0.0037	23	c.100 others(40): Show c.100-9249_100-9227dupTTTTTTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93406275	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 NA18942.hp2 NA18947.hp2 others(1): Show HG00609.hp2 NA18942.hp2 NA18947.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0121 a0001c0001t0188 a0001c0001t0047 a0001c0001t0121 a0001c0001t0188	a0001c0001t0047g0178 a0001c0001t0047g0242 a0001c0001t0121g0011 others(1): Show a0001c0001t0047g0178 a0001c0001t0047g0242 a0001c0001t0121g0011 a0001c0001t0188g0176	4	414	0.0097	23	c.69 others(34): Show c.6904_*6926dupAAAAAAAAAAAAAAAAAAAAAAA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	6927	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT6_chr4_122887577_122927597	122899044	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG04115.hp1 NA18955.hp2 others(2): Show HG03490.hp1 HG04115.hp1 NA18955.hp2 NA19084.hp1 NA19090.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0038 a0002c0001t0001g0163 a0002c0001t0001g0174 others(1): Show a0002c0001t0001g0038 a0002c0001t0001g0163 a0002c0001t0001g0174 a0002c0001t0001g0197	5	368	0.0136	23	c.499 others(40): Show c.499-1367_499-1366insAAAAAAAAAAAAAAAAAAAAAAA	NUDT6	ENSG00000170917.14	transcript	ENST00000304430.10	protein_coding	3/4			chr4	TogoVar
NUFIP1_chr13_44934249_44994471	44981921	T T	TCATGTTT others(16): Show TCATGTTTAACATAAAACATAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00423.hp2 others(111): Show HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp2 HG02698.hp1 HG02738.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp2 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0011 others(1): Show a0002c0002 a0002c0010 a0002c0011 a0002c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0002c0010t0001 a0002c0011t0001 a0002c0012t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0007 others(78): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0002g0038 a0002c0002t0006g0195 a0002c0002t0009g0213 a0002c0010t0001g0181 a0002c0011t0001g0223 a0002c0012t0001g0224	114	316	0.3608	23	c.495 others(38): Show c.495+150_495+151insTTTTATGTTTTATGTTAAACATG	NUFIP1	ENSG00000083635.8	transcript	ENST00000379161.5	protein_coding	2/9			chr13	TogoVar
NUFIP2_chr17_29250839_29299148	29282629	G G	GAAGTGAC others(16): Show GAAGTGACATAACGCACTCTCTTA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	356	0.0028	23	c.200 others(42): Show c.2002+3340_2002+3362dupTAAGAGAGTGCGTTATGTCACTT	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUGGC_chr8_28016964_28088936	28039272	A A	ACCTCAGC others(16): Show ACCTCAGCTGGACTGCAATGGCAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0068 a0004c0007t0002g0068	1	406	0.0025	23	c.161 others(42): Show c.1611+1756_1611+1778dupGTGCCATTGCAGTCCAGCTGAGG	NUGGC	ENSG00000189233.12	transcript	ENST00000413272.7	protein_coding	13/18			chr8	TogoVar
NUMA1_chr11_71997864_72085542	72049560	A A	AATAATAT others(16): Show AATAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp2 HG02809.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0001 a0001c0001t0004 a0001c0005t0001	a0001c0001t0004g0138 a0001c0005t0001g0147 a0001c0001t0004g0138 a0001c0005t0001g0147	2	244	0.0082	23	c.-32 others(42): Show c.-32-13586_-32-13585insATATATATATATATATATATTAT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73353072	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	322	0.0031	23	c.126 others(40): Show c.126+2531_126+2553dupAAAAAAAAAAAAAAAAAAAAAAA	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73445354	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	322	0.0031	23	c.-23 others(44): Show c.-233+13116_-233+13138dupTTTTTTTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229439672	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 NA19082.hp2 HG02258.hp1 NA19082.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0006 a0002c0002t0002 a0003c0003t0006	a0002c0002t0002g0264 a0003c0003t0006g0131 a0002c0002t0002g0264 a0003c0003t0006g0131	2	276	0.0073	23	c.22 others(34): Show c.2231_*2232insATATATATATATATATATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		586		chr1	TogoVar
NUP133_chr1_229435259_229513341	229449874	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp2 HG03579.hp1 HG02965.hp2 HG03041.hp2 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0120 a0003c0003t0004g0122 a0003c0003t0004g0123 a0003c0003t0004g0120 a0003c0003t0004g0122 a0003c0003t0004g0123	3	276	0.0109	23	c.318 others(40): Show c.3180+650_3180+651insTATATATATATATATATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	23/25			chr1	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0091 a0001c0001t0037g0091	1	300	0.0033	23	c.393 others(40): Show c.3930+301_3930+323dupTTTTTTTTTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	296	0.0034	23	c.196 others(40): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223723	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02698.hp1 HG02109.hp1 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0217 a0002c0002t0001g0175 a0001c0001t0001g0217 a0002c0002t0001g0175	2	234	0.0086	23	c.590 others(40): Show c.5902+796_5902+797insTTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar

Search by Variant

Search

Search Results (Total: 8696 hits)