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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
AGBL1_chr15_86074871_86921156	86191369	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0041 a0001c0002t0022g0041	1	132	0.0076	18	c.488 others(37): Show c.488+32344_488+32345insAAAAAAAAAAAAAAAAGA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86196879	G G	GCGCGCGC others(11): Show GCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	132	0.0076	18	c.489 others(37): Show c.489-28034_489-28033insGCGCGCGCACACACACAC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86262078	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02615.hp2 HG02717.hp2 others(2): Show HG00621.hp2 HG02615.hp2 HG02717.hp2 HG02895.hp1 NA18944.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0004 a0001c0012 a0001c0015 others(2): Show a0001c0004 a0001c0012 a0001c0015 a0007c0033 a0010c0017	a0001c0004t0040 a0001c0012t0014 a0001c0015t0003 others(2): Show a0001c0004t0040 a0001c0012t0014 a0001c0015t0003 a0007c0033t0006 a0010c0017t0059	a0001c0004t0040g0084 a0001c0012t0014g0056 a0001c0015t0003g0098 others(2): Show a0001c0004t0040g0084 a0001c0012t0014g0056 a0001c0015t0003g0098 a0007c0033t0006g0112 a0010c0017t0059g0070	5	132	0.0379	18	c.970 others(33): Show c.970-684_970-683insTTTTTTTTTTTTTTTTTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02895.hp2 HG02559.hp1 HG02895.hp2	a0015 a0016 a0015 a0016	a0015c0028 a0016c0054 a0015c0028 a0016c0054	a0015c0028t0013 a0016c0054t0010 a0015c0028t0013 a0016c0054t0010	a0015c0028t0013g0131 a0016c0054t0010g0061 a0015c0028t0013g0131 a0016c0054t0010g0061	2	132	0.0152	18	c.222 others(37): Show c.2220+6953_2220+6954insGTGTATATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86298246	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp2 HG03017.hp1 others(1): Show HG01081.hp1 HG02451.hp2 HG03017.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0006 a0001c0050 others(1): Show a0001c0002 a0001c0006 a0001c0050 a0004c0020	a0001c0002t0018 a0001c0006t0007 a0001c0050t0028 others(1): Show a0001c0002t0018 a0001c0006t0007 a0001c0050t0028 a0004c0020t0043	a0001c0002t0018g0101 a0001c0006t0007g0018 a0001c0050t0028g0054 others(1): Show a0001c0002t0018g0101 a0001c0006t0007g0018 a0001c0050t0028g0054 a0004c0020t0043g0068	4	132	0.0303	18	c.237 others(37): Show c.2374+2855_2374+2872dupATATATATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86410807	G G	GAGATATA others(11): Show GAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0095 a0004c0009t0003g0095	1	132	0.0076	18	c.255 others(39): Show c.2555+13262_2555+13263insGATATATATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86410807	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02630.hp2 HG02965.hp2 others(1): Show HG01258.hp2 HG02630.hp2 HG02965.hp2 NA18522.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0010 a0003c0011 a0003c0029 others(1): Show a0001c0010 a0003c0011 a0003c0029 a0009c0035	a0001c0010t0015 a0003c0011t0022 a0003c0029t0018 others(1): Show a0001c0010t0015 a0003c0011t0022 a0003c0029t0018 a0009c0035t0007	a0001c0010t0015g0009 a0003c0011t0022g0052 a0003c0029t0018g0007 others(1): Show a0001c0010t0015g0009 a0003c0011t0022g0052 a0003c0029t0018g0007 a0009c0035t0007g0045	4	132	0.0303	18	c.255 others(39): Show c.2555+13279_2555+13296dupTATATATATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86410839	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	132	0.0076	18	c.255 others(39): Show c.2555+13296_2555+13297insTATATATATATATAAATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86410841	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0004 a0001c0002t0016g0004	1	132	0.0076	18	c.255 others(39): Show c.2555+13296_2555+13297insTATATATATATATATAAA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86440484	G G	GAATAATA others(11): Show GAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02698.hp1 HG03540.hp1 others(2): Show HG02602.hp1 HG02698.hp1 HG03540.hp1 HG03710.hp2 NA19043.hp1	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0002 a0002c0018 a0002c0021 others(2): Show a0001c0002 a0002c0018 a0002c0021 a0002c0060 a0018c0038	a0001c0002t0001 a0002c0018t0001 a0002c0021t0019 others(2): Show a0001c0002t0001 a0002c0018t0001 a0002c0021t0019 a0002c0060t0004 a0018c0038t0013	a0001c0002t0001g0128 a0002c0018t0001g0074 a0002c0021t0019g0065 others(2): Show a0001c0002t0001g0128 a0002c0018t0001g0074 a0002c0021t0019g0065 a0002c0060t0004g0072 a0018c0038t0013g0091	5	132	0.0379	18	c.255 others(39): Show c.2555+42950_2555+42967dupTAATAATAATAATAATAA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86670600	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02486.hp1 HG02922.hp2 others(2): Show HG01255.hp2 HG02486.hp1 HG02922.hp2 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0015	a0001c0001t0003 a0001c0001t0009 a0001c0002t0006 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0002t0006 a0001c0007t0021 a0001c0015t0058	a0001c0001t0003g0113 a0001c0001t0009g0099 a0001c0002t0006g0003 others(2): Show a0001c0001t0003g0113 a0001c0001t0009g0099 a0001c0002t0006g0003 a0001c0007t0021g0096 a0001c0015t0058g0027	5	132	0.0379	18	c.299 others(37): Show c.2995-3663_2995-3646dupCACACACACACACACACA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86825387	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18979.hp1 HG03017.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0057 a0002c0044 a0001c0057 a0002c0044	a0001c0057t0001 a0002c0044t0001 a0001c0057t0001 a0002c0044t0001	a0001c0057t0001g0067 a0002c0044t0001g0075 a0001c0057t0001g0067 a0002c0044t0001g0075	2	132	0.0152	18	c.315 others(39): Show c.3159-81681_3159-81664dupAAAAAAAAAAAAAAAAAA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86827938	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0016 a0016	a0016c0054 a0016c0054	a0016c0054t0010 a0016c0054t0010	a0016c0054t0010g0061 a0016c0054t0010g0061	1	132	0.0076	18	c.315 others(39): Show c.3159-79146_3159-79129dupTTTTTTTTTTTTTTTTTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86828914	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	132	0.0076	18	c.315 others(39): Show c.3159-78162_3159-78145dupTATATATATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47678338	A A	ATTATTTT others(11): Show ATTATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19084.hp1 NA18971.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0002g0103 a0002c0002t0002g0106	2	356	0.0056	18	c.201 others(35): Show c.2017-938_2017-937insAAAAAAAAAAAAAAATAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19074.hp1 HG03710.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0266 a0001c0001t0001g0187 a0001c0001t0001g0266	2	356	0.0056	18	c.848 others(33): Show c.848+373_848+374insATATTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03453.hp1 HG03831.hp2 others(2): Show HG02135.hp2 HG03453.hp1 HG03831.hp2 NA18999.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0156 others(2): Show a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0333	5	356	0.0140	18	c.848 others(33): Show c.848+373_848+374insATATATTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02572.hp2 HG03834.hp2 others(2): Show HG00597.hp1 HG02572.hp2 HG03834.hp2 NA18987.hp2 NA19007.hp2	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0001 a0005c0006 a0013c0011 a0001c0001 a0005c0006 a0013c0011	a0001c0001t0001 a0005c0006t0001 a0013c0011t0001 a0001c0001t0001 a0005c0006t0001 a0013c0011t0001	a0001c0001t0001g0195 a0001c0001t0001g0228 a0001c0001t0001g0230 others(2): Show a0001c0001t0001g0195 a0001c0001t0001g0228 a0001c0001t0001g0230 a0005c0006t0001g0292 a0013c0011t0001g0210	5	356	0.0140	18	c.848 others(33): Show c.848+373_848+374insATATATATTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0351 a0002c0002t0001g0351	1	356	0.0028	18	c.848 others(33): Show c.848+373_848+374insATATATATATTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135026248	T T	TTTTATTT others(11): Show TTTTATTTTATTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp2 HG01099.hp1 HG01981.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0139 a0002c0002t0002g0045 a0001c0001t0002g0139 a0002c0002t0002g0045	2	320	0.0063	18	c.419 others(35): Show c.419-6583_419-6582insTTTTATTTATTTTATTTT	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL4_chr1_48527854_50028954	48588656	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp2 NA20129.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0050 a0001c0001t0002g0099 a0001c0001t0007g0098 a0001c0001t0001g0050 a0001c0001t0002g0099 a0001c0001t0007g0098	3	104	0.0289	18	c.110 others(37): Show c.1105-1508_1105-1491dupACACACACACACACACAC	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	10/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	48709584	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02451.hp2 HG01943.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0003 a0001c0001t0005 a0001c0004t0003	a0001c0001t0005g0091 a0001c0004t0003g0051 a0001c0001t0005g0091 a0001c0004t0003g0051	2	104	0.0192	18	c.635 others(37): Show c.635-46361_635-46344dupAATAATAATAATAATAAT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	48837711	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02071.hp1 HG02155.hp1 others(3): Show HG02055.hp2 HG02071.hp1 HG02155.hp1 HG02970.hp2 NA18946.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0002c0003t0005 a0003c0005t0008	a0001c0001t0006g0069 a0001c0001t0008g0047 a0001c0002t0001g0036 others(3): Show a0001c0001t0006g0069 a0001c0001t0008g0047 a0001c0002t0001g0036 a0001c0002t0001g0038 a0002c0003t0005g0017 a0003c0005t0008g0046	6	104	0.0577	18	c.634 others(37): Show c.634+29462_634+29479dupTATATATATATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	48893705	A A	AATAAATA others(11): Show AATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	104	0.0096	18	c.595 others(37): Show c.595-26476_595-26475insATTTATTTATTTATTTAT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49530259	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG01943.hp1 others(7): Show HG00639.hp2 HG01496.hp1 HG01943.hp1 HG02004.hp2 HG02622.hp2 HG02922.hp1 HG03209.hp1 HG04204.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0004t0003 a0002c0003t0001 a0002c0003t0008 a0006c0008t0004	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0089 others(7): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0002g0082 a0001c0001t0012g0054 a0001c0004t0003g0016 a0001c0004t0003g0057 a0002c0003t0001g0015 a0002c0003t0008g0088 a0006c0008t0004g0094	10	104	0.0962	18	c.282 others(39): Show c.282+167053_282+167054insTTTTTTTTTTTTTTTTTT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49971907	G G	GTTGTTTT others(11): Show GTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0006 a0001c0001t0013g0006	1	104	0.0096	18	c.34+ others(35): Show c.34+51855_34+51856insAAAAAAAAAAAAAAACAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	50019306	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0074 a0001c0002t0003g0074	1	104	0.0096	18	c.34+ others(33): Show c.34+4456_34+4457insTGTGTGTGTGTGTGTGAG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	50019306	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03831.hp2 NA18977.hp2 HG03492.hp2 HG03831.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009	a0001c0002t0002g0005 a0001c0002t0006g0037 a0001c0002t0009g0004 a0001c0002t0002g0005 a0001c0002t0006g0037 a0001c0002t0009g0004	3	104	0.0289	18	c.34+ others(33): Show c.34+4456_34+4457insTGTGTGTGTGTGTGAGAG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	50019306	T T	TCTCTCTC others(11): Show TCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18946.hp1 NA19068.hp1 HG00609.hp2 NA18946.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0001 a0001c0002t0009	a0001c0001t0001g0053 a0001c0002t0001g0035 a0001c0002t0009g0034 a0001c0001t0001g0053 a0001c0002t0001g0035 a0001c0002t0009g0034	3	104	0.0289	18	c.34+ others(33): Show c.34+4456_34+4457insTGTGTGTGTGTGAGAGAG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	50019306	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA20129.hp2 HG02451.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0050 a0001c0004t0003g0051 a0001c0001t0001g0050 a0001c0004t0003g0051	2	104	0.0192	18	c.34+ others(33): Show c.34+4456_34+4457insTGTGTGTGAGAGAGAGAG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	50019306	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG02559.hp2 HG02970.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0003c0005t0008 a0001c0001t0003 a0003c0005t0008	a0001c0001t0003g0100 a0003c0005t0008g0046 a0001c0001t0003g0100 a0003c0005t0008g0046	2	104	0.0192	18	c.34+ others(33): Show c.34+4456_34+4457insTGTGTGAGAGAGAGAGAG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGFG2_chr7_100534203_100573220	100551030	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG02572.hp2 others(9): Show HG00140.hp1 HG00741.hp2 HG02572.hp2 HG02698.hp2 HG02735.hp2 HG02976.hp1 HG03239.hp2 HG03654.hp2 HG04228.hp1 NA18747.hp1 NA18982.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0004c0004t0011	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0044 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0094 a0001c0001t0001g0181 a0001c0001t0002g0007 a0001c0001t0002g0123 a0002c0002t0003g0023 a0002c0002t0003g0202 a0002c0002t0003g0203 a0004c0004t0011g0068	12	246	0.0488	18	c.431 others(33): Show c.431+539_431+556dupATATATATATATATATAT	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGFG2_chr7_100534203_100573220	100551058	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	246	0.0041	18	c.431 others(33): Show c.431+556_431+557insATATATATGTATATATAT	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGK_chr7_141546410_141660244	141602172	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02896.hp1 HG03209.hp1 others(1): Show HG01261.hp1 HG02896.hp1 HG03209.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0003 a0001c0001t0004 a0002c0002t0003	a0001c0001t0004g0254 a0002c0002t0003g0004 a0002c0002t0003g0270 a0001c0001t0004g0254 a0002c0002t0003g0004 a0002c0002t0003g0270	4	274	0.0146	18	c.297 others(33): Show c.297+892_297+893insGTGTGTGTGTGTGTGTGT	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	5/15			chr7	TogoVar
AGK_chr7_141546410_141660244	141602173	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00642.hp2 others(4): Show HG00140.hp2 HG00423.hp2 HG00642.hp2 HG01255.hp1 HG01346.hp1 HG02129.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0065 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0103 a0001c0001t0007g0015	7	274	0.0256	18	c.297 others(33): Show c.297+915_297+932dupGTGTGTGTGTGTGTGTGT	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGK_chr7_141546410_141660244	141640307	T T	TAGAAGCA others(11): Show TAGAAGCAGTGACCGTTTG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19079.hp1 NA18949.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0261 a0001c0001t0005g0262	2	274	0.0073	18	c.727 others(33): Show c.727-937_727-920dupAGCAGTGACCGTTTGAGA	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGMAT_chr1_15566699_15590051	15576740	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	390	0.0026	18	c.900 others(33): Show c.900+927_900+944dupAAAAAAAAAAAAAAAAAA	AGMAT	ENSG00000116771.6	transcript	ENST00000375826.4	protein_coding	5/6			chr1	TogoVar
AGMO_chr7_15195317_15567015	15198251	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	236	0.0042	18	c.30 others(29): Show c.3033_*3034insGTCTCTCTCTCTCTCTCT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding		2065		chr7	TogoVar
AGMO_chr7_15195317_15567015	15216833	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0007 a0008c0023t0007	a0008c0023t0007g0227 a0008c0023t0007g0227	1	236	0.0042	18	c.126 others(39): Show c.1264-15492_1264-15475dupACACACACACACACACAC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15218327	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0008 a0002c0004t0007g0008	1	236	0.0042	18	c.126 others(39): Show c.1264-16986_1264-16969dupCACACACACACACACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15247459	C C	CACAGAGA others(11): Show CACAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp2 NA20129.hp2 HG03486.hp1 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201	3	236	0.0127	18	c.126 others(39): Show c.1264-46101_1264-46100insCTCTCTCTCTCTCTCTGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15248179	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp1 HG01109.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0079 a0001c0001t0005g0039 a0001c0001t0002g0079 a0001c0001t0005g0039	2	236	0.0085	18	c.126 others(39): Show c.1264-46838_1264-46821dupATATATATATATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15248222	A A	ATATATAT others(11): Show ATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	236	0.0042	18	c.126 others(39): Show c.1264-46864_1264-46863insGATATATATATATATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15322539	T T	TATATATA others(11): Show TATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	236	0.0042	18	c.126 others(39): Show c.1263+42957_1263+42974dupTTATATATATTTATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15342172	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	236	0.0042	18	c.126 others(39): Show c.1263+23324_1263+23341dupTTTTTTTTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15365380	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01243.hp2 others(7): Show HG00323.hp1 HG00738.hp2 HG01243.hp2 HG01255.hp1 HG02965.hp2 HG03516.hp2 HG03654.hp2 HG03834.hp2 HG04228.hp2 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0008 a0001c0001 a0001c0003 a0004c0008	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0004c0008t0001	a0001c0001t0001g0054 a0001c0001t0001g0074 a0001c0001t0001g0132 others(7): Show a0001c0001t0001g0054 a0001c0001t0001g0074 a0001c0001t0001g0132 a0001c0001t0001g0163 a0001c0001t0001g0179 a0001c0001t0001g0206 a0001c0001t0005g0199 a0001c0003t0001g0146 a0001c0003t0002g0188 a0004c0008t0001g0225	10	236	0.0424	18	c.126 others(35): Show c.1263+133_1263+134insTTTTTTTTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15407232	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01515.hp1 HG01517.hp2 others(1): Show HG01261.hp1 HG01515.hp1 HG01517.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0148	4	236	0.0170	18	c.609 others(37): Show c.609+11308_609+11325dupATATATATATATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15459591	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA19009.hp1 HG02273.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0104 a0001c0001t0002g0105	2	236	0.0085	18	c.410 others(37): Show c.410-28484_410-28483insCACACACACACACACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15459599	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	236	0.0042	18	c.410 others(37): Show c.410-28509_410-28492dupCACACACACACACACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15493362	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp1 NA18906.hp1 HG01109.hp1 HG02630.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0212 a0002c0002t0004g0208 a0002c0002t0004g0209 a0002c0002t0001g0212 a0002c0002t0004g0208 a0002c0002t0004g0209	3	236	0.0127	18	c.409 others(37): Show c.409+51409_409+51410insATGTGTGTGTGTGTGTGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)