Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NLRP8_chr19_55942832_55993629	55976762	A A	ATATATAT others(37): Show ATATATATGCATATATATGTATATAAAGATGTATCTAAAGATACG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0004 a0000c0002t0004	a0000c0002t0004g0279 a0000c0002t0004g0279	1	350	0.0029	44	c.287 others(61): Show c.2876+488_2876+489insGTATCTAAAGATACGTATATATGCATAT ATATGTATATAAAGAT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55976789	G G	GATGTATC others(37): Show GATGTATCTAAAGATACATATATATGCATATATATGTATATAAAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0004 a0000c0002t0004	a0000c0002t0004g0278 a0000c0002t0004g0278	1	350	0.0029	44	c.287 others(61): Show c.2876+488_2876+489insGTATCTAAAGATACATATATATGCATAT ATATGTATATAAATAT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993557	C C	CCCCCTCC others(37): Show CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0064 a0005c0064	a0005c0064t0026 a0005c0064t0026	a0005c0064t0026g0312 a0005c0064t0026g0312	1	350	0.0029	44	c.56 others(55): Show c.5644_*5645insCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4929		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993563	C C	CCCCTCCC others(37): Show CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0023 a0008c0026t0023	a0008c0026t0023g0253 a0008c0026t0023g0253	1	350	0.0029	44	c.56 others(55): Show c.5650_*5651insCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4935		chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	413	0.0024	44	c.48 others(55): Show c.4818_*4819insAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(37): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	413	0.0024	44	c.48 others(55): Show c.4818_*4819insAAAAAAAAAAATATATATATATATATATATATAT ATATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME6_chr3_48287317_48306367	48301594	C C	CCCCTCGG others(37): Show CCCCTCGGAAGCCGGCCTGGGCGCCCTCGGAAGCCGGCCTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03098.hp1 HG03453.hp1 HG01891.hp2 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0036 a0001c0001t0002g0013 a0001c0001t0009g0034 a0001c0001t0001g0036 a0001c0001t0002g0013 a0001c0001t0009g0034	3	324	0.0093	44	c.-29 others(53): Show c.-293_-250dupCGCCCAGGCCGGCTTCCGAGGGCGCCCAGGCCGGCT TCCGAGGG		NME6	ENSG00000172113.10	transcript	ENST00000442597.6	protein_coding					228		chr3	TogoVar
NME8_chr7_37843597_37905397	37846879	T T	TTTTTTTT others(37): Show TTTTTTTTTAGTTTTATTTTTTGTTGTTTTTTTTGTGTAAAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0316 a0003c0003t0002g0316	1	388	0.0026	44	c.-20 others(55): Show c.-2090_-2089insTTTTTTTTAGTTTTATTTTTTGTTGTTTTTTTTG TGTAAAGGTG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1717		chr7	TogoVar
NOC4L_chr12_132139457_132157468	132148890	A A	ACCTCGGT others(37): Show ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02683.hp1 HG00733.hp2 HG02683.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0232 a0008c0012t0001g0233 a0008c0012t0001g0232 a0008c0012t0001g0233	2	294	0.0068	44	c.901 others(57): Show c.901+17_901+18insACTCCTACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148890	A A	ACCTTGGT others(37): Show ACCTTGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0080 a0013c0036t0001g0080	1	294	0.0034	44	c.899 others(51): Show c.899_900insTGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCT	p.Gly others(5): Show p.Gly302fs	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/15	932/1650	900/1551	300/516		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148948	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18973.hp2 NA18998.hp1 HG00558.hp2 NA18973.hp2 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0179 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0179	3	294	0.0102	44	c.901 others(57): Show c.901+61_901+62insGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148962	T T	TACCACAC others(37): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18995.hp1 NA18998.hp2 NA18980.hp1 NA18995.hp1 NA18998.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0032 a0001c0001 a0001c0003 a0004c0032	a0001c0001t0001 a0001c0003t0001 a0004c0032t0001 a0001c0001t0001 a0001c0003t0001 a0004c0032t0001	a0001c0001t0001g0018 a0001c0003t0001g0290 a0004c0032t0001g0068 a0001c0001t0001g0018 a0001c0003t0001g0290 a0004c0032t0001g0068	3	294	0.0102	44	c.901 others(59): Show c.901+105_901+106insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132148962	T T	TACCACAC others(37): Show TACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	294	0.0034	44	c.901 others(57): Show c.901+96_901+97insGGCCGCCTCACTCACACCACACCCCTAATCCC CTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149001	A A	ACTCACAC others(37): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	294	0.0034	44	c.901 others(59): Show c.901+109_901+110insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149006	T T	TACCACAC others(37): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	294	0.0034	44	c.901 others(59): Show c.901+149_901+150insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149036	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	294	0.0034	44	c.901 others(59): Show c.901+149_901+150insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149045	A A	ACTCACAC others(37): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20129.hp2 HG02055.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0070 a0001c0006t0001g0123 a0001c0001t0001g0070 a0001c0006t0001g0123	2	294	0.0068	44	c.901 others(59): Show c.901+193_901+194insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149089	A A	ACTCACAC others(37): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	294	0.0034	44	c.901 others(59): Show c.901+197_901+198insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149094	T T	TACCACAC others(37): Show TACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0233 a0008c0012t0001g0233	1	294	0.0034	44	c.901 others(59): Show c.901+228_901+229insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149138	T T	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	294	0.0034	44	c.901 others(59): Show c.901+242_901+243insCACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCACTCA		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14						chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149138	T T	TACCACAC others(37): Show TACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	294	0.0034	44	c.901 others(59): Show c.901+272_901+273insGGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149182	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTACCACCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0080 a0013c0036t0001g0080	1	294	0.0034	44	c.901 others(59): Show c.901+314_901+315insACCACCGCCTCGCTCCTACCACACCCCTAA TCCCCTCGGTGAGT		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149182	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	294	0.0034	44	c.901 others(59): Show c.901+325_901+326insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149212	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCCTACCACATCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	294	0.0034	44	c.901 others(59): Show c.901+325_901+326insACTCCTACCACATCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149221	G G	GCTCCTAC others(37): Show GCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0124 a0001c0006t0001g0124	1	294	0.0034	44	c.901 others(59): Show c.901+329_901+330insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149300	C C	CGCCGCCT others(37): Show CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	294	0.0034	44	c.901 others(59): Show c.901+413_901+414insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149344	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	294	0.0034	44	c.901 others(59): Show c.901+492_901+493insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149353	G G	GCTCATAC others(37): Show GCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	294	0.0034	44	c.901 others(59): Show c.901+462_901+463insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCA		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149358	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18995.hp2 NA19079.hp1 HG03516.hp2 NA18995.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0004t0001g0007 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0004t0001g0007	3	294	0.0102	44	c.901 others(59): Show c.901+501_901+502insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149358	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	294	0.0034	44	c.901 others(59): Show c.901+492_901+493insGGCCGCCTCGCTCATACCACACCCCTAATC CCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149388	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	294	0.0034	44	c.901 others(59): Show c.901+536_901+537insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149402	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	294	0.0034	44	c.901 others(59): Show c.901+545_901+546insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149446	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	294	0.0034	44	c.901 others(59): Show c.901+589_901+590insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149489	A A	ATACCACA others(37): Show ATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	294	0.0034	44	c.901 others(59): Show c.901+594_901+595insTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14						chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149490	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	294	0.0034	44	c.901 others(59): Show c.901+637_901+638insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149534	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	294	0.0034	44	c.901 others(59): Show c.901+681_901+682insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149564	C C	CGCCGCCT others(37): Show CGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	294	0.0034	44	c.901 others(59): Show c.901+677_901+678insGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149578	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	294	0.0034	44	c.901 others(59): Show c.901+721_901+722insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149578	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	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+725_901+726insCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149578	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0192 a0001c0007t0001g0192	1	294	0.0034	44	c.901 others(59): Show c.901+712_901+713insGGCCGCCTCGCTCCTACCACACCCCTAATC CCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149617	G G	GCTCACAC others(37): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	294	0.0034	44	c.901 others(59): Show c.901+726_901+769dupACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149622	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	294	0.0034	44	c.901 others(59): Show c.901+756_901+757insGGCCGCCTCACTCATACCACACCCCTAATC CCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149661	A A	ACTCACAC others(37): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	294	0.0034	44	c.901 others(59): Show c.901+769_901+770insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149666	T T	TACCACAC others(37): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	294	0.0034	44	c.901 others(59): Show c.901+800_901+801insCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149696	G G	GGCCGCCT others(37): Show GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	294	0.0034	44	c.901 others(59): Show c.901+809_901+810insGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149705	A A	ACTCCTAC others(37): Show ACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	294	0.0034	44	c.901 others(59): Show c.901+813_901+814insCTACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149710	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18953.hp1 NA19005.hp1 others(2): Show NA18747.hp2 NA18953.hp1 NA19005.hp1 NA19007.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0003t0001g0171	5	294	0.0170	44	c.901 others(59): Show c.901+844_901+845insCGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149710	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCCT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	294	0.0034	44	c.901 others(59): Show c.901+853_901+854insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149740	G G	GGCCGCCT others(37): Show GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0134	1	294	0.0034	44	c.901 others(59): Show c.901+942_901+985dupGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149754	C C	CACCACAC others(37): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCTGCCTCACTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	294	0.0034	44	c.901 others(59): Show c.901+891_901+892insTGCCTCACTCCTACCACACCCCTAATCCCC TCGGTGAGTGCCGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar

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