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
NOC4L_chr12_132139457_132157468	132149798	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	294	0.0034	44	c.901 others(59): Show c.901+945_901+946insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149842	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0179 a0001c0003t0001g0179	1	294	0.0034	44	c.901 others(59): Show c.901+976_901+977insGGCCGCCTCACTCATACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149885	C C	CTACCACA others(37): Show CTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp1 HG01934.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0188 a0001c0001t0001g0189	2	294	0.0068	44	c.901 others(61): Show c.901+1020_901+1021insGGCCGCCTCGCTCATACCACACCCCTAA TCCCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149916	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	294	0.0034	44	c.901 others(61): Show c.901+1034_901+1035insCACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149974	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	294	0.0034	44	c.902 others(59): Show c.902-965_902-964insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150087	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	294	0.0034	44	c.902 others(59): Show c.902-886_902-885insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150100	A A	ATACCACA others(37): Show ATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	294	0.0034	44	c.902 others(59): Show c.902-881_902-880insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150145	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	294	0.0034	44	c.902 others(59): Show c.902-798_902-797insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150189	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0135	1	294	0.0034	44	c.902 others(59): Show c.902-763_902-762insGGCCGCCTCACTCATACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150219	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0013 a0003c0008t0001g0013	1	294	0.0034	44	c.902 others(59): Show c.902-754_902-753insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150219	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0146 a0001c0027t0001g0146	1	294	0.0034	44	c.902 others(59): Show c.902-719_902-718insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150233	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	294	0.0034	44	c.902 others(59): Show c.902-710_902-709insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150277	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	294	0.0034	44	c.902 others(59): Show c.902-675_902-674insGGCCGCCTCGCTCATACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150307	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0051 a0001c0004t0001g0051	1	294	0.0034	44	c.902 others(59): Show c.902-631_902-630insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150307	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	294	0.0034	44	c.902 others(59): Show c.902-661_902-660insTACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150321	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	294	0.0034	44	c.902 others(59): Show c.902-618_902-617insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150321	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	294	0.0034	44	c.902 others(59): Show c.902-631_902-630insGGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150351	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	294	0.0034	44	c.902 others(59): Show c.902-622_902-621insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150360	G G	GCTCATAC others(37): Show GCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	294	0.0034	44	c.902 others(59): Show c.902-617_902-616insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150365	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0177 a0001c0003t0001g0177	1	294	0.0034	44	c.902 others(59): Show c.902-578_902-577insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150395	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	294	0.0034	44	c.902 others(59): Show c.902-578_902-577insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150409	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	294	0.0034	44	c.902 others(59): Show c.902-530_902-529insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150409	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	294	0.0034	44	c.902 others(59): Show c.902-543_902-542insGGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150420	T T	TAATCCCC others(37): Show TAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCTACCACACCCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	294	0.0034	44	c.902 others(59): Show c.902-543_902-542insGGCCGCCTCACTCCTACCACACCCCCAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150448	G G	GCTCACAC others(37): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	294	0.0034	44	c.902 others(59): Show c.902-499_902-498insGGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150453	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0178 a0001c0003t0001g0178	1	294	0.0034	44	c.902 others(59): Show c.902-490_902-489insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150483	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	294	0.0034	44	c.902 others(59): Show c.902-490_902-489insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150483	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	294	0.0034	44	c.902 others(59): Show c.902-490_902-489insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150497	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	294	0.0034	44	c.902 others(59): Show c.902-446_902-445insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150527	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	294	0.0034	44	c.902 others(59): Show c.902-411_902-410insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150541	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	294	0.0034	44	c.902 others(59): Show c.902-402_902-401insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150584	A A	ACACCACA others(37): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	294	0.0034	44	c.902 others(59): Show c.902-397_902-396insCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150585	T T	TACCACAC others(37): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	294	0.0034	44	c.902 others(59): Show c.902-353_902-352insCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150615	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0290 a0001c0003t0001g0290	1	294	0.0034	44	c.902 others(59): Show c.902-358_902-357insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150672	A A	ACACCACA others(37): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	294	0.0034	44	c.902 others(59): Show c.902-309_902-308insCACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150703	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	294	0.0034	44	c.902 others(59): Show c.902-270_902-269insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150712	G G	GCTCACAC others(37): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	294	0.0034	44	c.902 others(59): Show c.902-226_902-225insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150712	G G	GCTCACAC others(37): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	294	0.0034	44	c.902 others(59): Show c.902-235_902-234insGGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150716	A A	ATACCACA others(37): Show ATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	294	0.0034	44	c.902 others(59): Show c.902-265_902-264insTACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150717	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	294	0.0034	44	c.902 others(59): Show c.902-226_902-225insACTCATACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150717	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0012 a0001c0006t0001g0012	1	294	0.0034	44	c.902 others(59): Show c.902-221_902-220insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150717	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0080 a0013c0036t0001g0080	1	294	0.0034	44	c.902 others(59): Show c.902-235_902-234insGGCCGCCTCGCTCATACCACACCCCTAATC CCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150747	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19011.hp1 HG01243.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0105 a0001c0003t0001g0014 a0001c0001t0001g0105 a0001c0003t0001g0014	2	294	0.0068	44	c.902 others(59): Show c.902-226_902-225insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150747	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	294	0.0034	44	c.902 others(59): Show c.902-217_902-216insACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOMO1_chr16_14828721_14901157	14829036	A A	AATATCAC others(37): Show AATATCACAGTGGGTGTACACCCTGAGGAGATATTACTTCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19082.hp1 NA19084.hp2 NA19090.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0015 a0016 a0017	a0001c0001 a0001c0015 a0002c0002 others(9): Show a0001c0001 a0001c0015 a0002c0002 a0002c0005 a0002c0018 a0004c0004 a0005c0006 a0006c0009 a0007c0007 a0015c0019 a0016c0016 a0017c0017	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 others(12): Show a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0002c0002t0004 a0002c0005t0001 a0002c0018t0001 a0004c0004t0001 a0004c0004t0003 a0004c0004t0009 a0005c0006t0001 a0006c0009t0001 a0007c0007t0001 a0015c0019t0001 a0016c0016t0001 a0017c0017t0005	a0001c0001t0001g0024 a0001c0001t0001g0090 a0001c0001t0001g0150 others(111): Show a0001c0001t0001g0024 a0001c0001t0001g0090 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0321 a0001c0015t0001g0263 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0252 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0266 a0002c0002t0001g0270 a0002c0002t0001g0292 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0248 a0002c0005t0001g0091 a0002c0005t0001g0237 a0002c0005t0001g0238 a0002c0005t0001g0245 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0018t0001g0298 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0142 a0004c0004t0001g0163 a0004c0004t0001g0265 a0004c0004t0003g0012 a0004c0004t0003g0013 a0004c0004t0009g0140 a0005c0006t0001g0226 a0005c0006t0001g0279 a0005c0006t0001g0281 a0005c0006t0001g0282 a0005c0006t0001g0283 a0006c0009t0001g0280 a0006c0009t0001g0285 a0006c0009t0001g0293 a0007c0007t0001g0010 a0007c0007t0001g0295 a0007c0007t0001g0296 a0007c0007t0001g0297 a0015c0019t0001g0224 a0016c0016t0001g0273 a0017c0017t0005g0303	115	337	0.3413	44	c.-48 others(55): Show c.-4816_-4815insATATCACAGTGGGTGTACACCCTGAGGAGATATT ACTTCCTCTG	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding		4684		chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	337	0.0030	44	c.180 others(61): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATATATATTTTTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS1_chr12_117203142_117366626	117335729	T T	TGAGAGAG others(37): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0140 a0001c0004t0140	a0001c0004t0140g0159 a0001c0004t0140g0159	1	294	0.0034	44	c.-42 others(63): Show c.-420-4241_-420-4240insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGGGG others(37): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0209 a0001c0003t0001g0209	1	324	0.0031	44	c.140 others(61): Show c.140+8304_140+8305insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535880	G G	GGTGGGGG others(37): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0174 a0001c0001t0004g0174	1	324	0.0031	44	c.140 others(61): Show c.140+8143_140+8144insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	164	0.0061	44	c.74- others(61): Show c.74-11073_74-11072insATATATATATATATATATATATATATAT ATATATATTTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 4475 hits)