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
GCC2_chr2_108444206_108514415	108459745	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18960.hp1 HG03239.hp1 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0003 a0001c0001t0003 a0002c0003t0003	a0001c0001t0003g0116 a0002c0003t0003g0110 a0001c0001t0003g0116 a0002c0003t0003g0110	2	276	0.0073	23	c.216 others(40): Show c.216+7290_216+7312dupTTTTTTTTTTTTTTTTTTTTTTT	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
GCM2_chr6_10868223_10887041	10868984	G G	GGGTTTCA others(16): Show GGGTTTCACCATGTTGGCTAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02257.hp1 HG02451.hp2 others(2): Show HG00735.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp1 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0005 a0009c0010 a0001c0005 a0009c0010	a0001c0005t0006 a0009c0010t0006 a0001c0005t0006 a0009c0010t0006	a0001c0005t0006g0079 a0001c0005t0006g0080 a0001c0005t0006g0081 others(2): Show a0001c0005t0006g0079 a0001c0005t0006g0080 a0001c0005t0006g0081 a0001c0005t0006g0082 a0009c0010t0006g0078	5	426	0.0117	23	c.50 others(34): Show c.5010_*5011insTGCCTAGCCAACATGGTGAAACC	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding		4238		chr6	TogoVar
GCM2_chr6_10868223_10887041	10883180	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	426	0.0024	23	c.-13 others(34): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAAAAA	GCM2	ENSG00000124827.7	transcript	ENST00000379491.5	protein_coding		1140		chr6	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01256.hp1 HG01256.hp2 others(8): Show HG00621.hp1 HG01256.hp1 HG01256.hp2 HG01516.hp2 HG01928.hp2 HG02056.hp2 HG02083.hp1 HG03942.hp1 NA18939.hp1 NA18981.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0184 others(8): Show a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0305 a0001c0001t0002g0293 a0001c0001t0002g0294	11	324	0.0340	23	c.925 others(40): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10538437	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	324	0.0031	23	c.925 others(40): Show c.925+8602_925+8603insATATATATATATATATATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03942.hp1 NA18941.hp2 others(2): Show HG03927.hp1 HG03942.hp1 NA18941.hp2 NA19062.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0094 a0002c0002t0002g0002 a0002c0002t0002g0080 a0001c0001t0002g0094 a0002c0002t0002g0002 a0002c0002t0002g0080	5	354	0.0141	23	c.21 others(34): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAA	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDAP1_chr8_74345403_74371876	74356716	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02572.hp2 HG01070.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0094 a0001c0001t0001g0097	2	430	0.0047	23	c.311 others(40): Show c.311-3420_311-3419insATATATATATTTTTTTTTTTTTT	GDAP1	ENSG00000104381.14	transcript	ENST00000220822.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
GDAP1_chr8_74345403_74371876	74356716	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	430	0.0023	23	c.311 others(40): Show c.311-3420_311-3419insATATATATTTTTTTTTTTTTTTT	GDAP1	ENSG00000104381.14	transcript	ENST00000220822.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
GDF15_chr19_18381158_18394176	18387813	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02647.hp2 HG00609.hp1 HG02647.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0028 a0003c0003t0001g0028 a0002c0002t0001g0028 a0003c0003t0001g0028	2	424	0.0047	23	c.278 others(38): Show c.278-469_278-447dupTTTTTTTTTTTTTTTTTTTTTTT	GDF15	ENSG00000130513.7	transcript	ENST00000252809.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19001.hp2 NA19068.hp1 HG04228.hp1 NA19001.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0283 a0001c0001t0001g0305 a0001c0001t0001g0306	3	424	0.0071	23	c.486 others(40): Show c.486+1166_486+1167insATATATATATATATATATATTTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN2_chr14_39109323_39141973	39123708	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	424	0.0024	23	c.486 others(40): Show c.486+1166_486+1167insATATATATATATATATATTTTTT	GEMIN2	ENSG00000092208.19	transcript	ENST00000308317.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
GEMIN7_chr19_45074260_45096518	45082574	G G	GGCACTCA others(16): Show GGCACTCAGATGATGTGCTAACAA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	420	0.0024	23	c.-9+ others(38): Show c.-9+2546_-9+2568dupGCACTCAGATGATGTGCTAACAA	GEMIN7	ENSG00000142252.11	transcript	ENST00000270257.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
GFOD1_chr6_13352830_13492600	13409088	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	230	0.0044	23	c.254 others(42): Show c.254-43427_254-43426insTTTCTTTCTTTCTTTCTTTCTTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409215	G G	GAAAGAAA others(16): Show GAAAGAAAGAAGAGAAAGAAGGAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0083 a0001c0001t0020g0083	1	230	0.0044	23	c.254 others(42): Show c.254-43554_254-43553insTTCCTTCTTTCTCTTCTTTCTTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFRA2_chr8_21685398_21793875	21712982	C C	CAGAGGGA others(16): Show CAGAGGGAGACCGTGGAAAGAGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0131 a0002c0002t0002g0131	1	322	0.0031	23	c.795 others(40): Show c.795-6964_795-6942dupCCCTCTTTCCACGGTCTCCCTCT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	4/8			chr8	TogoVar
GFRAL_chr6_55322469_55407493	55397524	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0273 a0006c0006t0003g0273	1	386	0.0026	23	c.953 others(40): Show c.953-1652_953-1630dupAAAAAAAAAAAAAAAAAAAAAAA	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02970.hp2 NA19043.hp1 others(1): Show HG02572.hp2 HG02970.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0007g0027 a0001c0001t0001g0004 a0001c0001t0007g0027	4	415	0.0096	23	c.-16 others(34): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTTT	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		1599		chr8	TogoVar
GGCT_chr7_30491621_30509829	30506956	A A	ATCCGGAG others(16): Show ATCCGGAGTTGTTTGTTCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02818.hp2 others(2): Show HG01109.hp2 HG02145.hp1 HG02818.hp2 HG03453.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0106 a0001c0001t0008g0054 a0001c0001t0008g0105 others(1): Show a0001c0001t0004g0106 a0001c0001t0008g0054 a0001c0001t0008g0105 a0001c0001t0008g0107	5	444	0.0113	23	c.-22 others(34): Show c.-2248_-2247insCGGGAGGAACAAACAACTCCGGA	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding		2128		chr7	TogoVar
GGNBP2_chr17_36539919_36594848	36548615	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18990.hp1 NA18943.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0030 a0001c0002t0003g0029 a0001c0001t0001g0030 a0001c0002t0003g0029	2	357	0.0056	23	c.93+ others(38): Show c.93+2813_93+2835dupAAAAAAAAAAAAAAAAAAAAAAA	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	357	0.0028	23	c.642 others(40): Show c.642-2334_642-2333insATATATATATATATATATATTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGN_chr19_38379267_38393034	38380723	T T	TGTGTGTG others(16): Show TGTGTGTGCGCGCGCGTGGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	392	0.0026	23	c.36 others(34): Show c.3688_*3689insGCGCGCCACGCGCGCGCACACAC	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding		3543		chr19	TogoVar
GGT1_chr22_24598193_24633996	24603655	T T	TGACTTGT others(16): Show TGACTTGTGCGAAGAAGCTCTTGA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	426	0.0024	23	c.-42 others(40): Show c.-429+131_-429+153dupCTTGTGCGAAGAAGCTCTTGAGA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605051	T T	TATATATA others(16): Show TATATATATATATATAAAATGTAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA19087.hp1 HG01433.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0363 a0002c0002t0002g0382 a0002c0002t0002g0363 a0002c0002t0002g0382	2	426	0.0047	23	c.-42 others(42): Show c.-429+1524_-429+1525insATATATATATATATAAAATGTAA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15			chr22	TogoVar
GHR_chr5_42418439_42726878	42588526	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0041 a0003c0005t0002g0041	1	210	0.0048	23	c.70+ others(40): Show c.70+22585_70+22607dupAAAAAAAAAAAAAAAAAAAAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIMAP7_chr7_150509872_150526073	150524992	G G	GCAGGATT others(16): Show GCAGGATTTTTCTAGCGCAGATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	466	0.0022	23	c.41 others(34): Show c.4115_*4116insCAGGATTTTTCTAGCGCAGATGC	GIMAP7	ENSG00000179144.5	transcript	ENST00000313543.5	protein_coding		3920		chr7	TogoVar
GINS1_chr20_25402673_25453563	25428969	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	360	0.0028	23	c.447 others(40): Show c.447+3657_447+3679dupTTTTTTTTTTTTTTTTTTTTTTT	GINS1	ENSG00000101003.12	transcript	ENST00000262460.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18906.hp2 NA19063.hp1 NA18612.hp1 NA18906.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0009 a0001c0003t0007 a0001c0002t0009 a0001c0003t0007	a0001c0002t0009g0124 a0001c0002t0009g0125 a0001c0003t0007g0079 a0001c0002t0009g0124 a0001c0002t0009g0125 a0001c0003t0007g0079	3	470	0.0064	23	c.205 others(40): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS2_chr16_85671198_85693954	85685678	A A	AAAAAAAA others(16): Show AAAAAAAAACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp2 HG02257.hp1 others(2): Show HG01255.hp1 HG02109.hp2 HG02257.hp1 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0017 a0001c0003t0008g0097 a0001c0003t0008g0101 a0001c0003t0008g0017 a0001c0003t0008g0097 a0001c0003t0008g0101	5	470	0.0106	23	c.205 others(40): Show c.205+1781_205+1782insGTTTTTTTTTTTTTGTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS2_chr16_85671198_85693954	85685678	A A	AAAAAAAA others(16): Show AAAAAAAAACAACAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19055.hp1 NA18971.hp2 NA19055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0098 a0001c0003t0008g0099 a0001c0003t0008g0098 a0001c0003t0008g0099	2	470	0.0043	23	c.205 others(40): Show c.205+1781_205+1782insGTTTTTTTTTTGTTGTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS2_chr16_85671198_85693954	85685678	A A	AAACAAAA others(16): Show AAACAAAAACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0032 a0001c0003t0008g0032	2	470	0.0043	23	c.205 others(40): Show c.205+1781_205+1782insGTTTTTTTTTTTTTGTTTTTGTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS2_chr16_85671198_85693954	85685685	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01175.hp2 others(17): Show HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01255.hp2 HG01978.hp1 HG02004.hp2 HG03710.hp2 HG03834.hp1 NA18949.hp2 NA18954.hp1 NA18968.hp2 NA18978.hp1 NA18979.hp2 NA18992.hp2 NA18993.hp1 NA19006.hp2 NA19007.hp2 NA19066.hp1 NA19090.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 others(3): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0049 a0001c0002t0009	a0001c0001t0003g0019 a0001c0001t0003g0033 a0001c0001t0003g0034 others(12): Show a0001c0001t0003g0019 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0107 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0012g0047 a0001c0001t0012g0206 a0001c0001t0014g0136 a0001c0001t0027g0114 a0001c0001t0049g0260 a0001c0002t0009g0116	20	470	0.0426	23	c.205 others(40): Show c.205+1774_205+1775insGTTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS4_chr8_41524261_41550030	41546849	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA18981.hp1 HG00673.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0095 a0001c0001t0001g0001 a0001c0001t0001g0095	2	426	0.0047	23	c.47 others(34): Show c.4762_*4763insTTTTTTTTTTTTTTTTTTTTTTT	GINS4	ENSG00000147536.12	transcript	ENST00000276533.4	protein_coding		1820		chr8	TogoVar
GIP_chr17_48953554_48973596	48965138	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00673.hp2 others(31): Show HG00423.hp1 HG00558.hp2 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01515.hp1 HG01517.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02559.hp1 HG02622.hp1 HG02683.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03017.hp2 NA18945.hp2 NA18946.hp1 NA18952.hp2 NA18964.hp2 NA18980.hp1 NA18984.hp1 NA18989.hp1 NA18999.hp2 NA19030.hp2 NA19089.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 others(23): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0108 a0001c0001t0003g0109	34	406	0.0837	23	c.87- others(36): Show c.87-659_87-658insTTTTTTTTTTTTTTTTTTTTTTT	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	2/5			chr17	TogoVar
GJA10_chr6_89889469_89901120	89900758	T T	TTATATAT others(16): Show TTATATATATATATATAAATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01167.hp2 HG01175.hp2 others(3): Show HG00140.hp2 HG01167.hp2 HG01175.hp2 HG02145.hp2 HG03710.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	386	0.0155	23	c.46 others(34): Show c.4658_*4659insTATATATATATATATAAATATTA	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		4639		chr6	TogoVar
GJB1_chrX_71218224_71230516	71220142	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0031	23	c.-32 others(34): Show c.-3210_-3209insTTTTTTTTTTTTTTTTTTTTTTT	GJB1	ENSG00000169562.13	transcript	ENST00000361726.7	protein_coding		3081		chrX	TogoVar
GJB2_chr13_20182470_20197938	20197464	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG02258.hp1 others(3): Show HG01516.hp1 HG01517.hp2 HG02258.hp1 HG03516.hp2 HG03654.hp2 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0006c0006t0001	a0001c0001t0001g0002 a0001c0001t0003g0004 a0001c0001t0005g0010 others(1): Show a0001c0001t0001g0002 a0001c0001t0003g0004 a0001c0001t0005g0010 a0006c0006t0001g0013	6	420	0.0143	23	c.-47 others(34): Show c.-4705_-4704insTTTTTTTTTTTTTTTTTTTTTTT	GJB2	ENSG00000165474.8	transcript	ENST00000382848.5	protein_coding		4527		chr13	TogoVar
GK5_chr3_142152527_142230585	142159853	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0067 a0001c0001t0079g0067	1	272	0.0037	23	c.57 others(34): Show c.5768_*5769insAAAAAAAAAAAAAAAAAAAAAAA	GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	16/16	5768		chr3	TogoVar
GLB1_chr3_32991617_33102146	33022564	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	394	0.0025	23	c.114 others(40): Show c.1144-910_1144-909insAAAAAAAAAAAAAAAAAAAAAAA	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	11/15			chr3	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG01123.hp1 others(4): Show HG00738.hp2 HG01074.hp2 HG01123.hp1 HG03239.hp2 HG03704.hp1 HG04115.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0001g0268 others(4): Show a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0010g0309	7	416	0.0168	23	c.-26 others(34): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLCCI1_chr7_7963796_8094080	7976479	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03579.hp1 NA19030.hp2 HG02622.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0050 a0001c0001t0061 a0001c0001t0012 a0001c0001t0050 a0001c0001t0061	a0001c0001t0012g0039 a0001c0001t0050g0197 a0001c0001t0061g0196 a0001c0001t0012g0039 a0001c0001t0050g0197 a0001c0001t0061g0196	3	416	0.0072	23	c.457 others(40): Show c.457+6691_457+6692insAAAAAAAAAAAAAAAAAAAAAAA	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLCCI1_chr7_7963796_8094080	8023588	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18946.hp1 HG02004.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0247 a0001c0001t0008g0290 a0001c0001t0001g0247 a0001c0001t0008g0290	2	416	0.0048	23	c.696 others(40): Show c.696+1025_696+1047dupTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
GLDC_chr9_6527467_6650729	6585899	C C	CTATCTAT others(16): Show CTATCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0003 a0015c0031t0003	a0015c0031t0003g0270 a0015c0031t0003g0270	1	342	0.0029	23	c.185 others(42): Show c.1850+1241_1850+1242insATAGATAGATAGATAGATAGATA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	15/24			chr9	TogoVar
GLDC_chr9_6527467_6650729	6639668	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	342	0.0029	23	c.334 others(40): Show c.334+4945_334+4946insATATATATATATATATATATATT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar
GLG1_chr16_74442440_74612114	74479051	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01981.hp1 HG02155.hp1 others(2): Show HG00438.hp1 HG01981.hp1 HG02155.hp1 HG04228.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 a0001c0001t0001 a0001c0001t0002 a0001c0001t0037	a0001c0001t0001g0243 a0001c0001t0001g0325 a0001c0001t0001g0332 others(2): Show a0001c0001t0001g0243 a0001c0001t0001g0325 a0001c0001t0001g0332 a0001c0001t0002g0167 a0001c0001t0037g0252	5	342	0.0146	23	c.182 others(42): Show c.1827+1167_1827+1189dupTTTTTTTTTTTTTTTTTTTTTTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	11/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTATAT others(16): Show AAGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp1 HG01978.hp2 others(8): Show HG01099.hp1 HG01168.hp1 HG01978.hp2 HG02056.hp2 HG02083.hp1 HG02698.hp1 HG03942.hp1 NA18957.hp2 NA18989.hp1 NA19056.hp2 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0011 a0001c0001 a0001c0004 a0003c0011	a0001c0001t0001 a0001c0001t0034 a0001c0001t0039 others(5): Show a0001c0001t0001 a0001c0001t0034 a0001c0001t0039 a0001c0001t0042 a0001c0001t0056 a0001c0004t0001 a0001c0004t0007 a0003c0011t0001	a0001c0001t0001g0239 a0001c0001t0001g0260 a0001c0001t0001g0265 others(8): Show a0001c0001t0001g0239 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0034g0138 a0001c0001t0039g0165 a0001c0001t0042g0166 a0001c0001t0056g0246 a0001c0004t0001g0195 a0001c0004t0001g0217 a0001c0004t0007g0218 a0003c0011t0001g0340	11	342	0.0322	23	c.775 others(40): Show c.775-1804_775-1803insATATATATATATATATATATACT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74540138	A A	ATTTTATA others(16): Show ATTTTATATATATATTTTATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03579.hp2 NA18943.hp1 others(3): Show HG01978.hp2 HG03579.hp2 NA18943.hp1 NA18950.hp2 NA18952.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 a0001c0001t0001 a0001c0001t0002 a0001c0001t0042	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0256 others(3): Show a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0256 a0001c0001t0002g0105 a0001c0001t0002g0144 a0001c0001t0042g0166	6	342	0.0175	23	c.439 others(40): Show c.439-7986_439-7985insATATATAAAATATATATATAAAA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(16): Show GGAAGGGAGGAAGGAAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03098.hp1 HG03195.hp1 others(11): Show HG01069.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03579.hp1 HG03942.hp1 NA18747.hp1 NA18952.hp1 NA18957.hp2 NA18970.hp2 NA19011.hp1 NA19062.hp2 NA19064.hp1 NA19084.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0007 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0004 a0001c0004t0001 a0001c0004t0007 a0001c0004t0028 a0002c0007t0015 a0003c0011t0001	a0001c0001t0001g0170 a0001c0001t0001g0229 a0001c0001t0001g0237 others(11): Show a0001c0001t0001g0170 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0260 a0001c0001t0001g0333 a0001c0001t0002g0174 a0001c0001t0007g0334 a0001c0002t0004g0168 a0001c0004t0001g0258 a0001c0004t0001g0335 a0001c0004t0007g0218 a0001c0004t0028g0187 a0002c0007t0015g0342 a0003c0011t0001g0340	14	342	0.0409	23	c.439 others(42): Show c.439-10556_439-10555insTCCCTTCCTTCCTTCCTCCCTTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(16): Show GGAAGGGAGGAAGGAAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA21309.hp1 HG03209.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0007 a0001c0004t0001 a0001c0004t0007	a0001c0004t0001g0183 a0001c0004t0007g0171 a0001c0004t0001g0183 a0001c0004t0007g0171	2	342	0.0059	23	c.439 others(42): Show c.439-10556_439-10555insTCCCTCCCTTCCTTCCTCCCTTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74574883	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	342	0.0029	23	c.438 others(42): Show c.438+31751_438+31773dupTTTTTTTTTTTTTTTTTTTTTTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74603676	G G	GGGGGGGG others(16): Show GGGGGGGGGGCGGGGGGGATAGGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0077 a0001c0003t0003g0077	1	342	0.0029	23	c.438 others(40): Show c.438+2980_438+2981insACCTATCCCCCCCGCCCCCCCCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar

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Search Results (Total: 8696 hits)