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
NUPR2_chr7_56109681_56121417	56115455	G G	GTATATAT others(32): Show GTATATATATATATATGAATATATTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	448	0.0022	39	c.6+ others(52): Show c.6+559_*7-558insAATATATATATATATAATATATTCATATATAT ATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115648	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	448	0.0022	39	c.6+ others(52): Show c.6+366_*6+367insTATATATATATATATATATATATATATATATA TATATAT	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUTM2F_chr9_94313198_94333644	94313356	T T	TATATTAT others(32): Show TATATTATATTATATAAAATAATATATTATATTATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	322	0.0031	39	c.51 others(50): Show c.5108_*5109insTTTATATAATATAATATATTATTTTATATAATAT AATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4841		chr9	TogoVar
NUTM2F_chr9_94313198_94333644	94313494	A A	AATATATA others(32): Show AATATATATTATATATTATAATATATAATAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	322	0.0031	39	c.49 others(50): Show c.4970_*4971insATATATATTTTATTATATATTATAATATATAATA TATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4703		chr9	TogoVar
NWD1_chr19_16714847_16822953	16761358	T T	TTCTTTCT others(32): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp1 HG03041.hp1 HG03453.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0140 a0004c0009t0005g0224 a0004c0009t0005g0140 a0004c0009t0005g0224	2	300	0.0067	39	c.197 others(56): Show c.1974-611_1974-610insTTTCTTTCTTTCTTTCTTTCTTTCTTTC CTCTTTCTTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	408	0.0025	39	c.25 others(50): Show c.2531_*2532insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCCCCCG others(32): Show TCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	242	0.0041	39	c.361 others(58): Show c.361-15366_361-15365insGACCTGCTCGCCCGTGTGAGATGCTC CATGGTCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841445	C C	CCCCCGAC others(32): Show CCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0202	1	242	0.0041	39	c.361 others(58): Show c.361-15368_361-15367insTGGACCTGCTCGCCCGTGTGAGATGC TCCATGGTCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841470	G G	GGGCGAGC others(32): Show GGGCGAGCAGGTCCCCCCCGACCACGGAGCATCTCACGCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0002 a0001c0001t0017g0002	1	242	0.0041	39	c.361 others(58): Show c.361-15393_361-15392insGGCGTGAGATGCTCCGTGGTCGGGGG GGACCTGCTCGCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841497	C C	CGCATCTC others(32): Show CGCATCTCACACCCACAGGCAGGTCCACCCTGACCACGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	242	0.0041	39	c.361 others(58): Show c.361-15420_361-15419insTCCGTGGTCAGGGTGGACCTGCCTGT GGGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841603	C C	CGACCACG others(32): Show CGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01257.hp1 others(4): Show HG01074.hp2 HG01099.hp2 HG01257.hp1 HG01358.hp2 HG02145.hp1 HG03486.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0025 a0001c0001t0001g0110 a0001c0001t0001g0160 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0110 a0001c0001t0001g0160 a0001c0001t0001g0186 a0001c0001t0003g0065 a0001c0001t0005g0108 a0001c0001t0014g0113	7	242	0.0289	39	c.361 others(58): Show c.361-15526_361-15525insAGGGGGGACCTGCTCGCCCGTGTGAG ATGCGCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	941850	C C	CATCACAC others(32): Show CATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0109 a0001c0001t0014g0109	1	242	0.0041	39	c.360 others(58): Show c.360+37468_360+37469insCCTGGAATCTTGTTCACTGTAAATCC AGGAAGGTGTGAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949046	T T	TCCCCCCT others(32): Show TCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	242	0.0041	39	c.360 others(58): Show c.360+30272_360+30273insGAGAGGAGGAGGCCGCGGGGAGAGGA GGAGGCAGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949166	G G	GGCCTCCT others(32): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	242	0.0041	39	c.360 others(58): Show c.360+30152_360+30153insAGGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949273	T T	TCCCCCCG others(32): Show TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	242	0.0041	39	c.360 others(58): Show c.360+30045_360+30046insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OAF_chr11_120206032_120235334	120221656	G G	GTCAGATC others(32): Show GTCAGATCCTGGCTTTGCCTCTGCTGGCCCACATAACCTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	400	0.0025	39	c.232 others(56): Show c.232-4005_232-4004insTCAGATCCTGGCTTTGCCTCTGCTGGCC CACATAACCTT	OAF	ENSG00000184232.9	transcript	ENST00000328965.9	protein_coding	1/3			chr11	TogoVar
ODF3L2_chr19_458361_479983	473982	G G	GGGGAAAC others(32): Show GGGGAAACTGAGGCCCAGGCAGAGATACACGGTCACAGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0085 a0002c0003t0002g0085	1	324	0.0031	39	c.127 others(54): Show c.127+638_127+639insATCTGTGACCGTGTATCTCTGCCTGGGCCT CAGTTTCCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3			chr19	TogoVar
ODF3_chr11_191761_205258	195909	C C	CTGGTGAG others(32): Show CTGGTGAGGAGGACCTGGTGAGGGGACATGGGGGGGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG01884.hp1 others(23): Show HG01243.hp1 HG01433.hp1 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0001c0001t0004 a0007c0012t0001 a0001c0001t0001 a0001c0001t0004 a0007c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0004g0024 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0004g0024 a0007c0012t0001g0005	26	388	0.0670	39	c.-11 others(50): Show c.-1146_-1145insTGGTGAGGAGGACCTGGTGAGGGGACATGGGGGG GACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		851		chr11	TogoVar
ODF3_chr11_191761_205258	196404	G G	GGGACATG others(32): Show GGGACATGGGGGGGACCTTGGTGAGGGGACCTAGTGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03516.hp1 NA19240.hp2 HG02055.hp1 HG03516.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0001 a0001c0001t0001 a0007c0012t0001	a0001c0001t0001g0005 a0007c0012t0001g0005 a0001c0001t0001g0005 a0007c0012t0001g0005	3	388	0.0077	39	c.-65 others(48): Show c.-651_-650insGGACATGGGGGGGACCTTGGTGAGGGGACCTAGTGA GGA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		356		chr11	TogoVar
ODF3_chr11_191761_205258	196404	G G	GGGACATG others(32): Show GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01884.hp1 HG01884.hp2 others(20): Show HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0005 a0001c0001t0001g0016	23	388	0.0593	39	c.-65 others(48): Show c.-651_-650insGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		356		chr11	TogoVar
OLFM3_chr1_101797560_102001926	101932525	A A	AAACCCTG others(32): Show AAACCCTGGTGACACTGTGGGAAGAGAAACAAACCCAGTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	306	0.0033	39	c.69+ others(56): Show c.69+64184_69+64222dupGACTGGGTTTGTTTCTCTTCCCACAGTG TCACCAGGGTT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFM3_chr1_101797560_102001926	101934016	G G	GTAAATAG others(32): Show GTAAATAGATTAACTATTGATACTATAAAGCAATCATACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02155.hp1 NA18951.hp1 HG00621.hp2 HG02155.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0004g0241 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0004g0241	3	306	0.0098	39	c.69+ others(56): Show c.69+62693_69+62731dupTGTATGATTGCTTTATAGTATCAATAGT TAATCTATTTA	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518266	G G	GGGAGAGG others(32): Show GGGAGAGGGGAGAGGGGAGAGGGGGAGAGGAGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	384	0.0026	39	c.121 others(58): Show c.1215+8994_1215+8995insTCTCCTCTCTCCTCTCCCCCTCTCCC CTCTCCCCTCTCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518272	G G	GGGGAGAG others(32): Show GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	384	0.0026	39	c.121 others(58): Show c.1215+8988_1215+8989insTCCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCCTCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518277	G G	GAGGGGAG others(32): Show GAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG04199.hp2 HG02622.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0090 a0001c0002t0002g0078 a0001c0002t0002g0090	2	384	0.0052	39	c.121 others(58): Show c.1215+8983_1215+8984insTCCTCTCCCCTCTCCCCTCTCCCCTC TCCCCTCTCCCCT	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OPCML_chr11_132409981_133537501	133518737	G G	GACAGTGG others(32): Show GACAGTGGCAGGTCCTGGTGTGTTGGGGGCTGGGCTGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG01192.hp2 others(15): Show HG00642.hp2 HG01192.hp1 HG01192.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02647.hp1 HG02809.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 NA18522.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0049 a0001c0001t0002g0032 a0001c0001t0003g0030 others(15): Show a0001c0001t0001g0049 a0001c0001t0002g0032 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0046 a0001c0001t0003g0050 a0001c0001t0004g0007 a0001c0001t0004g0048 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0037 a0001c0001t0007g0029 a0001c0001t0008g0004 a0001c0001t0009g0060 a0001c0001t0010g0061 a0001c0001t0012g0063 a0001c0001t0019g0051 a0001c0001t0020g0033	18	68	0.2647	39	c.61+ others(56): Show c.61+13488_61+13526dupTCACAGCCCAGCCCCCAACACACCAGGA CCTGCCACTGT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPN5_chr6_47777032_47831381	47819353	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	322	0.0031	39	c.105 others(58): Show c.1057-4630_1057-4629insTATATATATATATATATATATATATA TATATATATATAT	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6			chr6	TogoVar
OPRD1_chr1_28807170_28876267	28846846	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0009	a0003c0004t0009g0038 a0003c0004t0009g0038	1	304	0.0033	39	c.228 others(58): Show c.228-12106_228-12105insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT	OPRD1	ENSG00000116329.12	transcript	ENST00000234961.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OPRL1_chr20_64075082_64105633	64090734	C C	CCACTGAT others(32): Show CCACTGATCTGGGGCCCAGCTGTGGCAGAGGTGCCCTGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	66	0.0152	39	c.-18 others(58): Show c.-184-1087_-184-1049dupAGGTGCCCTGGGCACTGATCTGGGGC CCAGCTGTGGCAG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64090996	G G	GGGTGCCC others(32): Show GGGTGCCCTGGGCACTGATCTGGGGCCCAGCTGTGGCAGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0036 a0001c0001t0010g0036	1	66	0.0152	39	c.-18 others(56): Show c.-184-736_-184-698dupAGGTGCCCTGGGCACTGATCTGGGGCCC AGCTGTGGCAG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64104679	A A	ACAGGGGA others(32): Show ACAGGGGAGCACAGGCCATGGTGAGGACCGTCGGCCACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02559.hp1 HG02895.hp1 others(2): Show HG01167.hp1 HG02559.hp1 HG02895.hp1 HG04204.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0009 a0001c0001t0013 a0001c0003t0004 others(1): Show a0001c0001t0009 a0001c0001t0013 a0001c0003t0004 a0001c0007t0010	a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0013g0056 others(2): Show a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0013g0056 a0001c0003t0004g0011 a0001c0007t0010g0052	5	66	0.0758	39	c.58 others(50): Show c.5880_*5881insCAGGGGAGCACAGGCCATGGTGAGGACCGTCGGC CACAG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding		4047		chr20	TogoVar
OR10G2_chr14_21628836_21639940	21639564	T T	TCCCCCCC others(32): Show TCCCCCCCCTCCTCCCCCCCCCCCCTTTTCCCCCTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0000 a0002c0006t0001g0000	1	474	0.0021	39	c.-47 others(50): Show c.-4723_-4722insGGAAGAGGGGGAAAAGGGGGGGGGGGGAGGAGGG GGGGG	OR10G2	ENSG00000255582.1	transcript	ENST00000542433.1	protein_coding		4625		chr14	TogoVar
OR10H5_chr19_15782661_15805357	15801375	A A	AATATATT others(32): Show AATATATTATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0002 a0001c0002t0012g0002	1	396	0.0025	39	c.63 others(50): Show c.6379_*6380insATATATTATATATATATATATATATATATATATA TATAT	OR10H5	ENSG00000172519.10	transcript	ENST00000642092.2	protein_coding		1019		chr19	TogoVar
OR11H4_chr14_20234286_20249349	20237516	T T	TATAATAT others(32): Show TATAATATATATAAAATATATATATTATAAAATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	439	0.0023	39	c.-18 others(50): Show c.-1827_-1826insATAATATATATAAAATATATATATTATAAAATAT ATATA	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1769		chr14	TogoVar
OR12D3_chr6_29368423_29380291	29377684	A A	ACCCCCCC others(32): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0000 a0004c0007t0001g0000	1	437	0.0023	39	c.-23 others(50): Show c.-2398_-2397insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGG	OR12D3	ENSG00000112462.8	transcript	ENST00000396806.3	protein_coding		2394		chr6	TogoVar
OR13D1_chr9_104689518_104700462	104696103	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA18999.hp2 NA19010.hp2 HG02615.hp1 NA18999.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0000 a0001c0004t0000 a0001c0001t0000 a0001c0004t0000	a0001c0001t0000g0000 a0001c0004t0000g0000 a0001c0001t0000g0000 a0001c0004t0000g0000	3	396	0.0076	39	c.64 others(48): Show c.641_*642insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		642		chr9	TogoVar
OR1E1_chr17_3392104_3403410	3399273	A A	AAAGGAAA others(32): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA19065.hp1 NA18940.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	2	380	0.0053	39	c.-86 others(48): Show c.-864_-863insCTTTCTTTCTTTCTTCCTTTCCTTTCCTTTCCTTTC CTT	OR1E1	ENSG00000180016.2	transcript	ENST00000322608.2	protein_coding		864		chr17	TogoVar
OR1F1_chr16_3183204_3211556	3188050	G G	GAAAAGAA others(32): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0258 a0001c0001t0029g0258	1	328	0.0031	39	c.-59 others(48): Show c.-592_-591insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		153		chr16	TogoVar
OR1F1_chr16_3183204_3211556	3188053	A A	AAGAAAAG others(32): Show AAGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03654.hp1 HG06807.hp2 HG02055.hp1 HG03654.hp1 HG06807.hp2	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0004 a0005c0005 a0002c0002 a0004c0004 a0005c0005	a0002c0002t0001 a0004c0004t0003 a0005c0005t0003 a0002c0002t0001 a0004c0004t0003 a0005c0005t0003	a0002c0002t0001g0197 a0004c0004t0003g0273 a0005c0005t0003g0198 a0002c0002t0001g0197 a0004c0004t0003g0273 a0005c0005t0003g0198	3	328	0.0092	39	c.-58 others(48): Show c.-589_-588insAGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAA AAG	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		150		chr16	TogoVar
OR1F1_chr16_3183204_3211556	3188054	A A	AGAAAAGA others(32): Show AGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02132.hp2 HG02895.hp2 others(3): Show HG01106.hp1 HG02132.hp2 HG02895.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0003 a0002c0002t0001 a0006c0006t0025 a0001c0001t0003 a0002c0002t0001 a0006c0006t0025	a0001c0001t0003g0007 a0001c0001t0003g0226 a0001c0001t0003g0227 others(3): Show a0001c0001t0003g0007 a0001c0001t0003g0226 a0001c0001t0003g0227 a0002c0002t0001g0007 a0002c0002t0001g0029 a0006c0006t0025g0231	6	328	0.0183	39	c.-58 others(48): Show c.-588_-587insGAAAAGAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA AAG	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		149		chr16	TogoVar
OR2F1_chr7_143949844_143969360	143966976	G G	GCTGAGAC others(32): Show GCTGAGACAACAAGATTATCTAACTTAATTTCAATTGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	39	c.60 others(50): Show c.6052_*6053insCTGAGACAACAAGATTATCTAACTTAATTTCAAT TGATT	OR2F1	ENSG00000213215.5	transcript	ENST00000641412.1	protein_coding		2617		chr7	TogoVar
OR2T2_chr1_248440637_248460725	248443960	A A	ATCAATCC others(32): Show ATCAATCCAATAGTTAGTTGGAGAACTTTATTTATGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0026 a0002c0001t0026	a0002c0001t0026g0009 a0002c0001t0026g0009	1	329	0.0030	39	c.-21 others(50): Show c.-2154_-2153insTCAATCCAATAGTTAGTTGGAGAACTTTATTTAT GGATG	OR2T2	ENSG00000196240.6	transcript	ENST00000641925.2	protein_coding		1676		chr1	TogoVar
OR2T34_chr1_248568801_248579757	248569909	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	314	0.0032	39	c.38 others(50): Show c.3891_*3892insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	OR2T34	ENSG00000183310.3	transcript	ENST00000328782.3	protein_coding		3891		chr1	TogoVar
OR3A2_chr17_3271177_3391308	3367599	G G	GTATATAT others(32): Show GTATATATATTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG02015.hp2 others(7): Show HG00735.hp1 HG01175.hp2 HG02015.hp2 HG02056.hp2 HG02559.hp2 HG03540.hp1 HG03654.hp1 HG04184.hp1 NA19006.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0004 a0002c0002t0005 others(1): Show a0001c0001t0010 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007	a0001c0001t0010g0299 a0002c0002t0004g0304 a0002c0002t0004g0311 others(7): Show a0001c0001t0010g0299 a0002c0002t0004g0304 a0002c0002t0004g0311 a0002c0002t0005g0222 a0002c0002t0005g0227 a0002c0002t0005g0228 a0002c0002t0005g0229 a0002c0002t0005g0230 a0002c0002t0007g0283 a0002c0002t0007g0293	10	318	0.0315	39	c.-37 others(60): Show c.-377+18525_-377+18526insTATATATATATATATATATATATA TATATAATATATATA	OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	1/4			chr17	TogoVar
OR4A5_chr11_54701832_54712902	54704715	T T	TTTTCTTT others(32): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	39	c.-21 others(50): Show c.-2170_-2169insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTC	OR4A5	ENSG00000221840.4	transcript	ENST00000319760.8	protein_coding		2116		chr11	TogoVar
OR4A5_chr11_54701832_54712902	54704720	T T	TTTTCTTT others(32): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG03579.hp2 others(2): Show HG02451.hp1 HG02630.hp2 HG03579.hp2 NA18982.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0000 a0001c0018t0001g0000 a0001c0001t0001g0000 a0001c0018t0001g0000	5	466	0.0107	39	c.-21 others(50): Show c.-2165_-2164insTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTC	OR4A5	ENSG00000221840.4	transcript	ENST00000319760.8	protein_coding		2111		chr11	TogoVar
OR4D10_chr11_59468315_59484361	59468670	T T	TGATAGAT others(32): Show TGATAGATAGATGATAGATAGGTAGATAGATAGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG01891.hp2 others(2): Show HG01243.hp2 HG01891.hp1 HG01891.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0021 others(1): Show a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0023	5	430	0.0116	39	c.-51 others(50): Show c.-5195_-5194insGATAGATAGATGATAGATAGGTAGATAGATAGAT AGATA	OR4D10	ENSG00000254466.2	transcript	ENST00000530162.2	protein_coding		4644		chr11	TogoVar
OR4D10_chr11_59468315_59484361	59483789	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	39	c.54 others(50): Show c.5424_*5425insTATATATATATATATATATATATATATATATATA TATAT	OR4D10	ENSG00000254466.2	transcript	ENST00000530162.2	protein_coding		4429		chr11	TogoVar
OR4S1_chr11_48301223_48312152	48305962	T T	TTATATAT others(32): Show TTATATATATAATATATATTATAATATATATTATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	426	0.0024	39	c.-26 others(48): Show c.-261_-260insTATATATATAATATATATTATAATATATATTATATA TTA	OR4S1	ENSG00000176555.1	transcript	ENST00000319988.1	protein_coding		260		chr11	TogoVar
OR51D1_chr11_4632477_4648060	4635113	A A	ATGGGCCC others(32): Show ATGGGCCCGGAGCGAGGAGAGTAGCACTCTTGTGCAGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(126): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18973.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp2 NA20129.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0006 a0007c0009 others(1): Show a0001c0001 a0001c0006 a0007c0009 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0031 a0001c0001t0035 a0001c0001t0044 a0001c0001t0046 a0001c0006t0001 a0007c0009t0004 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0007g0005 a0001c0001t0007g0017 a0001c0001t0008g0001 a0001c0001t0008g0011 a0001c0001t0011g0005 a0001c0001t0014g0001 a0001c0001t0031g0001 a0001c0001t0035g0001 a0001c0001t0044g0001 a0001c0001t0046g0002 a0001c0006t0001g0001 a0007c0009t0004g0002 a0008c0008t0001g0001	129	446	0.2892	39	c.-26 others(50): Show c.-2655_-2654insTGGGCCCGGAGCGAGGAGAGTAGCACTCTTGTGC AGGAT	OR51D1	ENSG00000197428.3	transcript	ENST00000641817.1	protein_coding		2363		chr11	TogoVar

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Search Results (Total: 3425 hits)