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
GAL3ST2_chr2_241771822_241809287	241805577	A A	AACCTCCG others(31): Show AACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	314	0.0032	38	c.14 others(49): Show c.1411_*1412insACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCC AGAG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1291		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805622	C C	CGCAGGCC others(31): Show CGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	314	0.0032	38	c.14 others(49): Show c.1456_*1457insGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGAC GTCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1336		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805913	G G	GCCCAGGG others(31): Show GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0243 a0003c0003t0001g0243	1	314	0.0032	38	c.17 others(49): Show c.1747_*1748insCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC TCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1627		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806472	G G	GCCCAGGG others(31): Show GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	314	0.0032	38	c.23 others(49): Show c.2306_*2307insCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC TCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2186		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806537	C C	CCCCCCTC others(31): Show CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	314	0.0032	38	c.23 others(49): Show c.2371_*2372insCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT CCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2251		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806559	C C	CGCAGGCC others(31): Show CGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	314	0.0032	38	c.23 others(49): Show c.2393_*2394insGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGAC GTCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2273		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806824	C C	CGCAGGCC others(31): Show CGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	314	0.0032	38	c.26 others(49): Show c.2658_*2659insGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAAC CTCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2538		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806889	G G	GCCCAGGG others(31): Show GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	314	0.0032	38	c.27 others(49): Show c.2723_*2724insCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC TCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2603		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807245	C C	CGCAGGCC others(31): Show CGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	314	0.0032	38	c.30 others(49): Show c.3079_*3080insGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGAC CTCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2959		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807284	C C	CGCAGGCC others(31): Show CGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0139 a0002c0002t0002g0139	1	314	0.0032	38	c.31 others(49): Show c.3118_*3119insGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGAC CTCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2998		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807349	G G	GCCCAGGG others(31): Show GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	314	0.0032	38	c.31 others(49): Show c.3183_*3184insCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC TCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3063		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807979	C C	CCCCCCTC others(31): Show CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	314	0.0032	38	c.38 others(49): Show c.3813_*3814insCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3693		chr2	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19057.hp2 NA18986.hp2 NA19057.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0027 a0002c0004t0002g0027	2	370	0.0054	38	c.191 others(57): Show c.1912-2019_1912-2018insTATATATATATATATATATATATATA TATATATATATA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(31): Show ATATATATATATGTATATATATATATATATACATATATT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18981.hp2 NA18974.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0094 a0001c0001t0002g0081 a0001c0001t0002g0094	2	348	0.0058	38	c.267 others(55): Show c.267-7163_267-7162insATATATATATGTATATATATATATATAT ACATATATTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT10_chr5_154185733_154425984	154293614	T T	TATATATA others(31): Show TATATATATATATATATATATAATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0021	1	236	0.0042	38	c.160 others(55): Show c.160-1202_160-1201insATATATATATATATATATATAATATATA TATATATATA	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11			chr5	TogoVar
GALNT13_chr2_153866922_154458979	154014635	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0006 a0001c0001t0066g0006	1	214	0.0047	38	c.142 others(57): Show c.142+70011_142+70012insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01981.hp2 HG02040.hp2 others(3): Show HG01975.hp1 HG01981.hp2 HG02040.hp2 HG03486.hp2 NA18993.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0023	a0001c0001t0004g0183 a0001c0001t0004g0204 a0001c0001t0007g0196 others(3): Show a0001c0001t0004g0183 a0001c0001t0004g0204 a0001c0001t0007g0196 a0001c0001t0009g0127 a0001c0001t0010g0199 a0001c0001t0023g0012	6	214	0.0280	38	c.975 others(57): Show c.975+10787_975+10788insATATATATATATATATATATATATAT ATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT17_chr7_71127144_71718599	71201241	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0074 a0001c0002t0010g0074	1	76	0.0132	38	c.238 others(57): Show c.238+68217_238+68218insTATATATATATATATATATATATATA TATATATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	76	0.0132	38	c.239 others(57): Show c.239-70431_239-70430insATATATATATATATATATATATATAT TTTTTTTTTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	76	0.0132	38	c.239 others(57): Show c.239-70431_239-70430insATATATATATATATATATATATATTT TTTTTTTTTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71693309	C C	CACATATA others(31): Show CACATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0066 a0001c0001t0006g0066	1	76	0.0132	38	c.150 others(59): Show c.1500+16004_1500+16005insCATATATATATATATATATATATA TATATATATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT18_chr11_11265877_11627005	11269445	A A	AACCCCCC others(31): Show AACCCCCCCCCCAACCGATTACGGTGCCTGCCACCACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0010 a0001c0002t0004g0010	1	260	0.0039	38	c.16 others(49): Show c.1698_*1699insCTGTGGTGGCAGGCACCGTAATCGGTTGGGGGGG GGGT	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding		1431		chr11	TogoVar
GALNT9_chr12_132191372_132334589	132235740	T T	TTCAACCC others(31): Show TTCAACCCTCGGGACAGGGCAGGAGGGTCCCCCGGGCTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0008	1	183	0.0055	38	c.107 others(59): Show c.1077+12169_1077+12170insCAGCCCGGGGGACCCTCCTGCCCT GTCCCGAGGGTTGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALR1_chr18_77244848_77282900	77259021	G G	GTCATGGT others(31): Show GTCATGGTGGTGATGGTGATGGTGGTGGTGGTCATGTGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18950.hp1 NA18979.hp1 others(1): Show HG04204.hp2 NA18950.hp1 NA18979.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0044 a0001c0001t0095 a0001c0001t0027 a0001c0001t0044 a0001c0001t0095	a0001c0001t0027g0060 a0001c0001t0044g0028 a0001c0001t0044g0049 others(1): Show a0001c0001t0027g0060 a0001c0001t0044g0028 a0001c0001t0044g0049 a0001c0001t0095g0301	4	366	0.0109	38	c.732 others(55): Show c.732+2799_732+2800insCATGGTGGTGATGGTGATGGTGGTGGTG GTCATGTGAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77281062	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 NA18612.hp2 NA18973.hp1 HG02083.hp2 NA18612.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0102 a0001c0002t0002 a0001c0002t0004 a0001c0001t0102 a0001c0002t0002 a0001c0002t0004	a0001c0001t0102g0041 a0001c0002t0002g0172 a0001c0002t0004g0178 a0001c0001t0102g0041 a0001c0002t0002g0172 a0001c0002t0004g0178	3	366	0.0082	38	c.12 others(51): Show c.12160_*12161insATATATATATATATATATATATATATATATAT ATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3163		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281090	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0255 a0001c0001t0086g0255	1	366	0.0027	38	c.12 others(51): Show c.12188_*12189insATATATATATATATATATATATATATATATAT ATATAA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3191		chr18	TogoVar
GAREM1_chr18_32258522_32475882	32364026	A A	ATATATAT others(31): Show ATATATATATATGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0176 a0002c0006t0004g0176	1	192	0.0052	38	c.262 others(57): Show c.262+28868_262+28869insAAAAAAAAAAAAAAAAAAAAAAAAAA CATATATATATA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GARIN2_chr14_67184440_67228940	67212615	G G	GTAATATA others(31): Show GTAATATATATTATATATAATATATATTACATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02976.hp1 others(1): Show HG02258.hp1 HG02280.hp1 HG02976.hp1 NA18960.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0024 a0001c0007t0001g0044 a0001c0007t0001g0248 a0001c0007t0001g0024 a0001c0007t0001g0044 a0001c0007t0001g0248	4	332	0.0121	38	c.116 others(57): Show c.1160+4178_1160+4215dupATATATAATATATATTACATATATAT ATAATATATATT	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GARIN5B_chr19_55349908_55368260	55361760	A A	ACCCTCAG others(31): Show ACCCTCAGACCCAGGAGTCCAGGGCCCCTAGCTCCTTCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01243.hp2 others(22): Show HG00735.hp1 HG01109.hp2 HG01243.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03471.hp2 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0003 a0008 a0020 others(1): Show a0003 a0008 a0020 a0028	a0003c0002 a0008c0009 a0020c0034 others(1): Show a0003c0002 a0008c0009 a0020c0034 a0028c0032	a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 others(4): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0008c0009t0004 a0008c0009t0008 a0020c0034t0001 a0028c0032t0002	a0003c0002t0001g0009 a0003c0002t0001g0017 a0003c0002t0001g0104 others(11): Show a0003c0002t0001g0009 a0003c0002t0001g0017 a0003c0002t0001g0104 a0003c0002t0001g0106 a0003c0002t0002g0032 a0003c0002t0002g0102 a0003c0002t0002g0103 a0003c0002t0002g0105 a0003c0002t0003g0033 a0008c0009t0004g0012 a0008c0009t0004g0137 a0008c0009t0008g0136 a0020c0034t0001g0107 a0028c0032t0002g0052	25	356	0.0702	38	c.565 others(53): Show c.565-327_565-326insAGAAGGAGCTAGGGGCCCTGGACTCCTGGG TCTGAGGG	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	3/10			chr19	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAGAA others(31): Show AAAAAGAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03453.hp1 HG02622.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0215 a0001c0002t0001g0193 a0001c0002t0001g0215	2	300	0.0067	38	c.287 others(55): Show c.2870+767_2870+768insAAAGAATATATATATATATATATATATA TATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GART_chr21_33498933_33547117	33515652	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	384	0.0026	38	c.210 others(57): Show c.2107+1336_2107+1337insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	GART	ENSG00000159131.17	transcript	ENST00000381815.9	protein_coding	16/21			chr21	TogoVar
GAS2_chr11_22661611_22818001	22789423	G G	GATATATA others(31): Show GATATATATAAATATATATATATATAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01192.hp2 HG01433.hp2 others(12): Show HG00408.hp1 HG01192.hp2 HG01433.hp2 HG02027.hp2 HG02083.hp1 HG02135.hp1 HG02165.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG04228.hp1 NA18944.hp1 NA18946.hp1 NA18956.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0001g0159 others(12): Show a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0208 a0001c0001t0002g0083 a0001c0001t0003g0034 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0074 a0001c0001t0003g0178 a0001c0001t0004g0064 a0001c0002t0001g0145 a0001c0002t0002g0028 a0001c0002t0004g0092	15	272	0.0552	38	c.724 others(57): Show c.724-22374_724-22373insTATATATAAATATATATATATATAAA TATATATATATA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS6_chr13_113815549_113869076	113831721	A A	AGAGCATG others(31): Show AGAGCATGAACTAAACGGGGCAGGGGTCCCCGTCCCCCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02922.hp1 HG03130.hp1 others(1): Show HG02135.hp2 HG02922.hp1 HG03130.hp1 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0007 a0005c0012 a0001c0002 a0001c0007 a0005c0012	a0001c0002t0001 a0001c0007t0001 a0005c0012t0001 a0001c0002t0001 a0001c0007t0001 a0005c0012t0001	a0001c0002t0001g0071 a0001c0007t0001g0127 a0001c0007t0001g0128 others(1): Show a0001c0002t0001g0071 a0001c0007t0001g0127 a0001c0007t0001g0128 a0005c0012t0001g0129	4	143	0.0280	38	c.114 others(55): Show c.1143+540_1143+577dupCGGGGGACGGGGACCCCTGCCCCGTTTA GTTCATGCTC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113832097	C C	CCCCGGAG others(31): Show CCCCGGAGCATGAACTAAACGGGGCAGGGGTCCCCGTCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0055	1	143	0.0070	38	c.114 others(55): Show c.1143+164_1143+201dupAGACGGGGACCCCTGCCCCGTTTAGTTC ATGCTCCGGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113842102	G G	GCCTCAAT others(31): Show GCCTCAATTTCCTCTGTATGCTTCAGTTTCCTCCATACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(42): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01258.hp2 HG01361.hp2 HG01891.hp1 HG01978.hp1 HG02015.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03492.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp1 NA18971.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA19058.hp1 NA19064.hp2 NA19074.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0017 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0015t0001 a0001c0017t0001 a0002c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 others(42): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0002t0001g0009 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0002t0001g0032 a0001c0002t0001g0038 a0001c0002t0001g0120 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0023 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0123 a0001c0015t0001g0008 a0001c0017t0001g0024 a0002c0005t0001g0011 a0002c0005t0001g0022	45	143	0.3147	38	c.344 others(55): Show c.344-2253_344-2252insTGTATGGAGGAAACTGAAGCATACAGAG GAAATTGAGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	382	0.0026	38	c.699 others(55): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(31): Show ATGTGTGTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01975.hp1 HG02257.hp1 others(3): Show HG00438.hp1 HG01975.hp1 HG02257.hp1 HG04184.hp2 NA18964.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0062 a0001c0001t0001g0127 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0062 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0003t0001g0162	6	320	0.0188	38	c.119 others(57): Show c.1197+3363_1197+3364insCATATATATATATATATATATATATA TATATACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(31): Show ATGTGTGTATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02165.hp1 HG02258.hp2 HG02129.hp2 HG02165.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0142 a0001c0001t0001g0184 a0001c0001t0001g0099 a0001c0001t0001g0142 a0001c0001t0001g0184	3	320	0.0094	38	c.119 others(57): Show c.1197+3363_1197+3364insCACATATATATATATATATATATATA TATATACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151697965	A A	ATGTGTGT others(31): Show ATGTGTGTATATGTATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	320	0.0031	38	c.119 others(57): Show c.1197+3363_1197+3364insCATATATATATATATATATATATATA CATATACACACA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	9/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151735734	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19057.hp1 HG02258.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0186 a0001c0003t0001g0162 a0001c0001t0001g0186 a0001c0003t0001g0162	2	320	0.0063	38	c.328 others(57): Show c.328-16197_328-16196insTATATATATATATATATATATATATA TATATATATATA	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GBE1_chr3_81484703_81766645	81750525	A A	ATATATAT others(31): Show ATATATATATATACGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18982.hp2 NA18956.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0141 a0001c0001t0003g0142	2	304	0.0066	38	c.143 others(57): Show c.143+10812_143+10849dupCATATATATATACATATATATATACG TATATATATATA	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	1/15			chr3	TogoVar
GCGR_chr17_81799150_81819008	81818524	T T	TGTGCGTG others(31): Show TGTGCGTGCGCGCCAACACTACACAGCAGATAGTGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA18965.hp1 HG02602.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0001 a0001c0001t0001g0062	2	408	0.0049	38	c.48 others(49): Show c.4835_*4836insGTGCGTGCGCGCCAACACTACACAGCAGATAGTG ACAC	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		4517		chr17	TogoVar
GCGR_chr17_81799150_81819008	81818563	G G	GTGCGTGC others(31): Show GTGCGTGCACACCAACAGTACCCAGCAGATAGTGACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG03579.hp2 HG02895.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	408	0.0049	38	c.48 others(49): Show c.4874_*4875insTGCGTGCACACCAACAGTACCCAGCAGATAGTGA CATA	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		4556		chr17	TogoVar
GCGR_chr17_81799150_81819008	81818601	A A	ATGCGTGC others(31): Show ATGCGTGCACGCCAACACTACACAGCAGATAGTGACTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	408	0.0025	38	c.49 others(49): Show c.4912_*4913insTGCGTGCACGCCAACACTACACAGCAGATAGTGA CTTG	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		4594		chr17	TogoVar
GCGR_chr17_81799150_81819008	81818737	C C	CATAGTGA others(31): Show CATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01074.hp2 HG01175.hp1 others(22): Show HG00558.hp2 HG01074.hp2 HG01175.hp1 HG02071.hp1 HG02451.hp1 HG02647.hp2 HG02738.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp2 HG03471.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18950.hp2 NA18956.hp1 NA18959.hp1 NA18988.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19089.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0082	25	408	0.0613	38	c.50 others(49): Show c.5048_*5049insATAGTGACTTGTGTGTGCACGCCAACACTACACG GCAG	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		4730		chr17	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	324	0.0031	38	c.925 others(55): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10569235	C C	CCACACAC others(31): Show CCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02273.hp1 HG02129.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0110 a0001c0001t0001g0070 a0001c0001t0001g0110	2	324	0.0062	38	c.925 others(57): Show c.925+39401_925+39438dupACACACACACACACACACACACACAC ACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569235	C C	CCACACAC others(31): Show CCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02273.hp2 NA18612.hp1 HG02129.hp1 HG02273.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0230 a0001c0001t0001g0252 a0001c0001t0001g0259	3	344	0.0087	38	c.919 others(57): Show c.919+11895_919+11932dupACACACACACACACACACACACACAC ACACACACACAC	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT3_chr15_59606783_59627723	59610949	C C	CCCCCTCC others(31): Show CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	38	c.-12 others(49): Show c.-1283_-1282insCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		833		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59610949	C C	CCCCCTCC others(31): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0104 a0001c0001t0045g0104	1	428	0.0023	38	c.-12 others(49): Show c.-1283_-1282insCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		833		chr15	TogoVar

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Search Results (Total: 5880 hits)