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
ZNF516_chr18_76352682_76500242	76393190	GGGTGGTC others(90): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGT AGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0019 a0019	a0019c0029 a0019c0029	a0019c0029t0109 a0019c0029t0109	a0019c0029t0109g0222 a0019c0029t0109g0222	1	346	0.0029	-97	c.181 others(118): Show c.1811-12984_1811-12888delTGCCTTCCCCCCACCTGACCACCT GCCTTCCCGGCTTCCCACCTGACTACCTGCCCTCCCCCCACCTGACCACC TGCCTTCCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393347	GGGGAAGG others(90): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0110 a0002c0003t0020g0110	1	346	0.0029	-97	c.181 others(118): Show c.1811-13141_1811-13045delGGCTTCCCACCTGACCACCTGCCT TCCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCTGCCCTCCC CCCACCTGACCACCTGCCTTCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393379	AGGTGGTC others(90): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0078 a0001c0004t0078	a0001c0004t0078g0166 a0001c0004t0078g0166	1	346	0.0029	-97	c.181 others(118): Show c.1811-13173_1811-13077delCGCCCTGCCCCCACCTGACCACCT GCCTTCCCGGCTTCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACC TGCCTTCCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393398	AGGCAGGT others(90): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0100 a0001c0004t0100	a0001c0004t0100g0039 a0001c0004t0100g0039	1	346	0.0029	-97	c.181 others(118): Show c.1811-13192_1811-13096delCTCCCCCCACCTGACCACCCGCCC TGCCCCCACCTGACCACCTGCCTTCCCGGCTTCCCACCTGACCACCTGCC TTCCCCCCACCTGACCACCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393789	GGGGAAGG others(90): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18954.hp1 HG02717.hp1 NA18954.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0078 a0002c0003t0051 a0001c0004t0078 a0002c0003t0051	a0001c0004t0078g0166 a0002c0003t0051g0010 a0001c0004t0078g0166 a0002c0003t0051g0010	2	346	0.0058	-97	c.181 others(118): Show c.1811-13583_1811-13487delGGCTTCCCACCTGACTACCTGCCC TCCCCCCACCTGACCACCCGCCCTGCCCCCACCTGACCACCTGCCTTCCC CCCACCTGACCACCTGCCTTCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394136	GGGGAGGG others(90): Show GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18982.hp2 NA19057.hp1 HG01891.hp2 NA18982.hp2 NA19057.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0002 a0001c0002t0127 a0003c0007t0133 a0001c0001t0002 a0001c0002t0127 a0003c0007t0133	a0001c0001t0002g0279 a0001c0002t0127g0042 a0003c0007t0133g0298 a0001c0001t0002g0279 a0001c0002t0127g0042 a0003c0007t0133g0298	3	346	0.0087	-97	c.181 others(118): Show c.1811-13930_1811-13834delGGCTTCCCACCTGACTACCTGCCC TCCCCCCACCTGACCACCCGCCCTGCCCCCACCTGACCACCTGCCTTCCC CCCACCTGACCACCTGCCCTCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394403	AGGTGGTC others(90): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	346	0.0029	-97	c.181 others(118): Show c.1811-14197_1811-14101delCGCCCTGCCCCCACCTGACCACCT GCCTTCCCGGCTTCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACC TGCCTTCCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF525_chr19_53360705_53391590	53386370	AACCAAGC others(90): Show AACCAAGCTGGGTCTATAAGGAATTGCATGTGAGATGGCACACATATTTA TGCTGTCTGAGCATCACAATCACGTTACCATATCAAGCTGAAAATGTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG02486.hp1 HG02717.hp1 others(8): Show HG01192.hp1 HG02486.hp1 HG02717.hp1 HG02922.hp1 HG02976.hp2 HG03098.hp2 HG03486.hp1 HG03579.hp2 NA19043.hp2 NA20300.hp1 NA21309.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0014 a0002c0002t0038 a0002c0002t0062 others(2): Show a0002c0002t0014 a0002c0002t0038 a0002c0002t0062 a0002c0002t0063 a0005c0008t0014	a0002c0002t0014g0035 a0002c0002t0014g0099 a0002c0002t0014g0104 others(7): Show a0002c0002t0014g0035 a0002c0002t0014g0099 a0002c0002t0014g0104 a0002c0002t0014g0243 a0002c0002t0014g0255 a0002c0002t0014g0259 a0002c0002t0038g0085 a0002c0002t0062g0265 a0002c0002t0063g0101 a0005c0008t0014g0089	11	442	0.0249	-97	c.43 others(108): Show c.4356_*4452delAGCTGGGTCTATAAGGAATTGCATGTGAGATGGC ACACATATTTATGCTGTCTGAGCATCACAATCACGTTACCATATCAAGCT GAAAATGTCACCA	ZNF525	ENSG00000203326.12	transcript	ENST00000474037.6	protein_coding	4/4	4356	INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC4_chr13_95014835_95306451	95196582	GAGGAAGG others(89): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01256.hp1 HG01433.hp2 others(7): Show HG00639.hp2 HG01256.hp1 HG01433.hp2 HG01981.hp1 HG02572.hp1 HG02735.hp1 HG03041.hp2 HG04184.hp2 NA19043.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0010 others(6): Show a0001c0002 a0001c0003 a0001c0010 a0001c0022 a0001c0066 a0001c0067 a0002c0004 a0002c0005 a0002c0063	a0001c0002t0002 a0001c0003t0001 a0001c0010t0004 others(7): Show a0001c0002t0002 a0001c0003t0001 a0001c0010t0004 a0001c0022t0022 a0001c0066t0003 a0001c0067t0004 a0002c0004t0001 a0002c0004t0002 a0002c0005t0002 a0002c0063t0001	a0001c0002t0002g0048 a0001c0003t0001g0036 a0001c0010t0004g0119 others(7): Show a0001c0002t0002g0048 a0001c0003t0001g0036 a0001c0010t0004g0119 a0001c0022t0022g0161 a0001c0066t0003g0035 a0001c0067t0004g0074 a0002c0004t0001g0182 a0002c0004t0002g0159 a0002c0005t0002g0146 a0002c0063t0001g0070	10	248	0.0403	-96	c.116 others(115): Show c.1162-1741_1162-1646delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCC5_chr3_183914934_184022884	183956807	CTGTTACA others(89): Show CTGTTACATGCAGATCCGTGTGTAAATCACATCGGTTACATGCAGATCCG TGTGTATATCATATAGGTTACATGCAGATCCGTGTGTATATCATATA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	378	0.0027	-96	c.248 others(115): Show c.2482+2830_2482+2925delTATATGATATACACACGGATCTGCAT GTAACCTATATGATATACACACGGATCTGCATGTAACCGATGTGATTTAC ACACGGATCTGCATGTAACA	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
ACAP3_chr1_1287391_1312930	1288997	TCCCGTGT others(89): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	295	0.0034	-96	c.44 others(107): Show c.4471_*4566delGGACGGAGCAGAGACTCGGGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACTCGGGGGACGGAGCAGGGACACGGGACGGAG CAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3393		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289261	TCCCCCGT others(89): Show TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	295	0.0034	-96	c.42 others(107): Show c.4207_*4302delGGACGGAGCAGAGACACGGGGGACGGAGCAGGGA CACGGGACGGGGCAGAGACACGGGACGGGGCAGGGACACGGGACGGAGCA GGGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3129		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289651	TCCCGTGT others(89): Show TCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02258.hp2 HG00621.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0002g0004 a0001c0001t0001g0007 a0001c0001t0002g0004	2	295	0.0068	-96	c.38 others(107): Show c.3817_*3912delGGACGGAGCAGAGACACGGGGGACGGAGCAGGGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGGGGGACGGAG CAGGGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2739		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289698	TCTGCTCC others(89): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	295	0.0034	-96	c.37 others(107): Show c.3770_*3865delGGACACGGGGGACGGAGCAGAGACACGGGACGGA GCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACAC GGGACGGAGCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2692		chr1	TogoVar
ADAM9_chr8_38991973_39110261	39045020	GTGTGTGT others(89): Show GTGTGTGTGCATACATACATATGTATGTGTATGTGTGTGTGCATACATAC ATATGTGTGTGTGCATACATACATATGTGTGTGTGCATACATACATA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA19000.hp1 NA18963.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0222 a0001c0001t0001g0209 a0001c0001t0001g0222	2	332	0.0060	-96	c.130 others(115): Show c.1302+2912_1302+3007delCATACATACATATGTATGTGTATGTG TGTGTGCATACATACATATGTGTGTGTGCATACATACATATGTGTGTGTG CATACATACATATGTGTGTG	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS2_chr5_179105853_179350461	179277834	AACCCCCC others(89): Show AACCCCCCGTGAGACCAAAGGCTGACCCCCCCTGAGACCAAAGGCTGACC CCCCTGCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03490.hp1 HG03492.hp2 HG00735.hp2 HG03490.hp1 HG03492.hp2	a0009 a0012 a0009 a0012	a0009c0026 a0012c0054 a0009c0026 a0012c0054	a0009c0026t0003 a0012c0054t0001 a0009c0026t0003 a0012c0054t0001	a0009c0026t0003g0137 a0009c0026t0003g0138 a0012c0054t0001g0045 a0009c0026t0003g0137 a0009c0026t0003g0138 a0012c0054t0001g0045	3	276	0.0109	-96	c.535 others(113): Show c.535-4866_535-4771delGTCAGCCTTTGGTCTCGGGGGGGGGTCA GCCTTTGGTCTCGCAGGGGGGTCAGCCTTTGGTCTCAGGGGGGGTCAGCC TTTGGTCTCACGGGGGGT	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72549985	AGAAGAAG others(89): Show AGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	182	0.0055	-96	c.98- others(111): Show c.98-1197_98-1102delCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CCTCTTCCTCTTCTTC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1237516	CTCTGCCT others(89): Show CTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18983.hp1 HG02622.hp2 NA18983.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0003 a0001c0001t0001 a0003c0006t0003	a0001c0001t0001g0045 a0003c0006t0003g0090 a0001c0001t0001g0045 a0003c0006t0003g0090	2	106	0.0189	-96	c.136 others(115): Show c.1362-3767_1362-3672delTGGGAGTAAACACCGGGAGGCAGGGG GGAGTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGCAGGGGGG AGTGAACACCGGGAGGCAGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237520	GCCTCCCG others(89): Show GCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCTC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	106	0.0094	-96	c.136 others(115): Show c.1362-3771_1362-3676delGAGATGGGAGTAAACACCGGGAGGCA GGGGGGAGTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGCAGG GGGGAGTGAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237565	TCTGCCTC others(89): Show TCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATC TCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0007 a0006c0012t0007	a0006c0012t0007g0006 a0006c0012t0007g0006	1	106	0.0094	-96	c.136 others(115): Show c.1362-3816_1362-3721delGGGGGAGTAAACACCGGGAGGCAGAG GGGAGTAAACACCGGGAGGGAGATGGGAGTAAACACCGGGAGGCAGGGGG GAGTAAACACCGGGAGGCAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237712	CCCTCCCG others(89): Show CCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0025 a0001c0001t0010g0025	1	106	0.0094	-96	c.136 others(115): Show c.1362-3963_1362-3868delCAGGGGGGAGTAAACACCGGGAGGGA GAGGGGAGTAAACACCGGGAGGGAGAGGGGAGTAAACACCGGGAGGCAGA GGGGAGTGAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239625	TCTCCCTC others(89): Show TCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0040 a0001c0001t0049g0040	1	106	0.0094	-96	c.136 others(115): Show c.1361+2410_1361+2505delGGGGGAGTAAACACCGGGAGGCAGAG GGGAGTAAGCACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGGAGAGGG GAGTAAACACCGGGAGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239641	TACTCCCC others(89): Show TACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0068 a0002c0002t0048g0068	1	106	0.0094	-96	c.136 others(115): Show c.1361+2394_1361+2489delGAACACCGGGAGGGAGGGGGGAGTAA ACACCGGGAGGCAGAGGGGAGTAAGCACCGGGAGGCAGAGGGGAGTAAAC ACCGGGAGGGAGAGGGGAGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239833	TACTCCCC others(89): Show TACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02683.hp2 HG02109.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0042 a0002c0002t0005 a0002c0002t0042	a0002c0002t0005g0022 a0002c0002t0042g0061 a0002c0002t0005g0022 a0002c0002t0042g0061	2	106	0.0189	-96	c.136 others(115): Show c.1361+2202_1361+2297delGAACACCGGGAGGGAGAGGGGAGTGA ACACCGGGAGGGAGAGGGGAGTAAACACCGGGAGGGAGAGGGGAGTAAAC ACCGGGAGGCAGGGGGGAGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239881	TACTCCCC others(89): Show TACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTCA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG02080.hp1 HG01433.hp1 HG01884.hp2 HG02080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0002c0002t0041 a0001c0001t0001 a0001c0001t0010 a0002c0002t0041	a0001c0001t0001g0078 a0001c0001t0010g0025 a0002c0002t0041g0074 a0001c0001t0001g0078 a0001c0001t0010g0025 a0002c0002t0041g0074	3	106	0.0283	-96	c.136 others(115): Show c.1361+2154_1361+2249delGAACACCGGGAGGCAGAGGGGAGTAA ACACCGGGAGGCAGAGGGGAGTGAACACCGGGAGGGAGAGGGGAGTGAAC ACCGGGAGGGAGAGGGGAGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1240126	CCCCTCTC others(89): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0039 a0004c0005t0002g0039	1	106	0.0094	-96	c.136 others(115): Show c.1361+1909_1361+2004delAGTAAACACCGGGAGGGAGGGGGGAG TAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGCAGAGGGGGAGT AAACACCGGGAGGGAGAGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGMO_chr7_15195317_15567015	15531229	ATATATAT others(89): Show ATATATATATTCTATATATTCTATATATATTCTATATATATTCTCTATAT ACATATTCTCTAAAAATATTCTCTATATATATTCTATACATATATTC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0024 a0002c0002t0004g0024	1	236	0.0042	-96	c.409 others(115): Show c.409+13447_409+13542delGAATATATGTATAGAATATATATAGA GAATATTTTTAGAGAATATGTATATAGAGAATATATATAGAATATATATA GAATATATAGAATATATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	391576	AGGGCGAG others(89): Show AGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACA GGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03669.hp2 HG03834.hp2 HG01361.hp2 HG03669.hp2 HG03834.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0002c0002t0052 a0005c0005t0015 a0002c0002t0001 a0002c0002t0052 a0005c0005t0015	a0002c0002t0001g0184 a0002c0002t0052g0194 a0005c0005t0015g0147 a0002c0002t0001g0184 a0002c0002t0052g0194 a0005c0005t0015g0147	3	268	0.0112	-96	c.351 others(115): Show c.351+14861_351+14956delGGGCGAGGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAG GGCCAGAGCGTGCATGGGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10			chr5	TogoVar
AK5_chr1_77277019_77564966	77444327	TATATAGT others(89): Show TATATAGTATATATACACAATATATGTGTATATATAGTATAAATATATAC TATATATAGTATATATAGTATAAATATATACTATATATAGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01496.hp2 HG03704.hp2 others(2): Show HG01123.hp1 HG01496.hp2 HG03704.hp2 HG03927.hp2 NA18956.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0004 a0002c0002t0015	a0001c0001t0001g0055 a0001c0001t0001g0125 a0001c0001t0007g0212 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0125 a0001c0001t0007g0212 a0001c0003t0004g0253 a0002c0002t0015g0113	5	284	0.0176	-96	c.105 others(117): Show c.1059+26616_1059+26711delTAGTATATATACACAATATATGTG TATATATAGTATAAATATATACTATATATAGTATATATAGTATAAATATA TACTATATATAGTATATACATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK8_chr9_132720578_132883284	132821733	GTATATTT others(89): Show GTATATTTGTATGTATATACAAATATATACATATATGTATATGTGTATGT ATATACAAATATATACATATATGTGTATGTATATACAAATATATACA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02809.hp1 HG01106.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0027 a0002c0003t0001g0017 a0002c0002t0001g0027 a0002c0003t0001g0017	2	266	0.0075	-96	c.889 others(113): Show c.889+1376_889+1471delTGTATATATTTGTATATACATACACATA TATGTATATATTTGTATATACATACACATATACATATATGTATATATTTG TATATACATACAAATATA	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132821739	TTGTATGT others(89): Show TTGTATGTATATACAAATATATACATATATGTATATGTGTATGTATATAC AAATATATACATATATGTGTATGTATATACAAATATATACATATATG	T T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	266	0.0038	-96	c.889 others(113): Show c.889+1370_889+1465delCATATATGTATATATTTGTATATACATA CACATATATGTATATATTTGTATATACATACACATATACATATATGTATA TATTTGTATATACATACA	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ALG13_chrX_111676170_111765649	111721071	AAGAAGGA others(89): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	191	0.0052	-96	c.132 others(112): Show c.1327-137_1327-42delAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
AMTN_chr4_70513569_70537743	70516308	ATATATAT others(89): Show ATATATATATATATATACGTATATATATATATACGTATATATATACATAT ATATGTATATATATACATGTATATATATACGTATATATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA18944.hp2 NA18955.hp2 others(3): Show HG03471.hp1 NA18944.hp2 NA18955.hp2 NA18981.hp1 NA18989.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0001t0001g0006 a0001c0002t0001g0001 a0001c0002t0001g0015	6	458	0.0131	-96	c.-23 others(107): Show c.-2361_-2266delTATATATATATATATACGTATATATATATATACG TATATATATACATATATATGTATATATATACATGTATATATATACGTATA TATATATATACG	AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding		2260		chr4	TogoVar
ANO1_chr11_70073317_70194530	70194434	GTGGATGG others(89): Show GTGGATGGATGGATGGATGGATGGTGGATGAATGGATGGATGGTAGATGA ATGGATGGATGGATGGATGAATGGATGGATGGATGGATGAGTGGATG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02040.hp1 HG02071.hp2 others(10): Show HG00673.hp1 HG02040.hp1 HG02071.hp2 HG02145.hp2 HG02300.hp2 HG02602.hp2 HG03209.hp2 HG03486.hp1 HG04115.hp1 NA18967.hp1 NA19054.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0029	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0003t0001 a0001c0003t0006 a0001c0008t0004 a0001c0029t0001	a0001c0001t0002g0192 a0001c0001t0006g0046 a0001c0001t0009g0190 others(10): Show a0001c0001t0002g0192 a0001c0001t0006g0046 a0001c0001t0009g0190 a0001c0001t0009g0191 a0001c0001t0009g0231 a0001c0002t0001g0035 a0001c0002t0006g0064 a0001c0002t0007g0039 a0001c0003t0001g0265 a0001c0003t0001g0292 a0001c0003t0006g0281 a0001c0008t0004g0275 a0001c0029t0001g0032	13	302	0.0431	-96	c.64 others(107): Show c.6431_*6526delTGGATGGATGGATGGATGGATGGTGGATGAATGG ATGGATGGTAGATGAATGGATGGATGGATGGATGAATGGATGGATGGATG GATGAGTGGATG	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding		4905		chr11	TogoVar
ANO9_chr11_412938_447011	438571	GTCCATCT others(89): Show GTCCATCTGTCCATCCGTCTCCAGGGCCAGTGTTTACGGAGCCACACCCA CCGGCCCATCCCCCGGGCCACAGCCACCAGCCTACAGGACCAGGCCA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	286	0.0035	-96	c.6+3 others(109): Show c.6+3254_6+3349delTGGCCTGGTCCTGTAGGCTGGTGGCTGTGGCC CGGGGGATGGGCCGGTGGGTGTGGCTCCGTAAACACTGGCCCTGGAGACG GATGGACAGATGGA	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22			chr11	TogoVar
ANTXR1_chr2_69008179_69254327	69096283	AGGAAGGG others(89): Show AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAG GAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	206	0.0049	-96	c.703 others(113): Show c.703+5371_703+5466delGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGAGGGAAGG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXRL_chr10_46281997_46335129	46295487	AGTTAGAG others(89): Show AGTTAGAGTTAGAGTTAGAGTTAGGAATGTCAACCCCATTGTCAGTGGCT GACTCTCAGTTGCCCATCCCTGGTTCAGGGTTAAAGTTAGGGTTTGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	369	0.0027	-96	c.393 others(111): Show c.393-508_393-413delGAATGTCAACCCCATTGTCAGTGGCTGACT CTCAGTTGCCCATCCCTGGTTCAGGGTTAAAGTTAGGGTTTGGGTTAGAG TTAGAGTTAGAGTTAG	ANTXRL	ENSG00000274209.6	transcript	ENST00000620264.5	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
APLP2_chr11_130064894_130149805	130090900	CCCCCCAT others(89): Show CCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA	C C	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0166 a0004c0004t0003g0166	1	274	0.0037	-96	c.106 others(115): Show c.106-18523_106-18428delATCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCC	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARGLU1_chr13_106536673_106573137	106570517	ATCGTCTC others(89): Show ATCGTCTCCCGGCAGCCCCGCCTCCTAATACCATCCTGTCCCAGCAGCTC CACTTCCTCATACCATCATGTCCCAGCAGCCCCACCTCCTCATACCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(95): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18948.hp2 NA18957.hp1 NA18967.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18992.hp1 NA19007.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19066.hp2 NA19076.hp2 NA19078.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 others(61): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0129 a0001c0001t0005g0045 a0001c0001t0005g0159 a0001c0001t0005g0161 a0001c0001t0005g0165 a0001c0001t0005g0168 a0001c0001t0007g0214 a0001c0001t0012g0174 a0001c0001t0013g0139	98	376	0.2606	-96	c.-26 others(107): Show c.-2694_-2599delCGGTATGAGGAGGTGGGGCTGCTGGGACATGATG GTATGAGGAAGTGGAGCTGCTGGGACAGGATGGTATTAGGAGGCGGGGCT GCCGGGAGACGA	ARGLU1	ENSG00000134884.15	transcript	ENST00000400198.8	protein_coding		2381		chr13	TogoVar
ARHGAP21_chr10_24578614_24728887	24656842	GGGGGGTC others(89): Show GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01361.hp1 others(38): Show HG00099.hp1 HG00642.hp2 HG01361.hp1 HG01433.hp1 HG01975.hp1 HG01993.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02145.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp1 HG03017.hp1 HG03139.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18963.hp2 NA18978.hp2 NA18979.hp1 NA18992.hp2 NA19003.hp1 NA19009.hp2 NA19057.hp1 NA19058.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19087.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0010 others(4): Show a0002 a0004 a0010 a0013 a0020 a0021 a0023	a0002c0002 a0002c0015 a0002c0030 others(6): Show a0002c0002 a0002c0015 a0002c0030 a0004c0004 a0010c0012 a0013c0027 a0020c0019 a0021c0016 a0023c0025	a0002c0002t0001 a0002c0015t0001 a0002c0030t0001 others(6): Show a0002c0002t0001 a0002c0015t0001 a0002c0030t0001 a0004c0004t0001 a0010c0012t0010 a0013c0027t0001 a0020c0019t0001 a0021c0016t0003 a0023c0025t0003	a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0025 others(38): Show a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0025 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0054 a0002c0002t0001g0063 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0088 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0136 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0279 a0002c0015t0001g0161 a0002c0030t0001g0022 a0004c0004t0001g0031 a0004c0004t0001g0032 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0004t0001g0070 a0004c0004t0001g0089 a0004c0004t0001g0100 a0010c0012t0010g0015 a0010c0012t0010g0016 a0013c0027t0001g0065 a0020c0019t0001g0066 a0021c0016t0003g0028 a0023c0025t0003g0029	41	352	0.1165	-96	c.268 others(115): Show c.268+10047_268+10142delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCC	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP24_chr4_85470150_86007666	85875061	GTTTTATA others(89): Show GTTTTATATATTATATTATATATAATATATTTATCTTATATATTATATTA TATATAATATATTTATCTTATATATTATATTATATATAATATATTTA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03486.hp1 HG02630.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0003 a0001c0003t0001 a0001c0004t0003	a0001c0003t0001g0086 a0001c0004t0003g0061 a0001c0003t0001g0086 a0001c0004t0003g0061	2	108	0.0185	-96	c.269 others(115): Show c.269-48585_269-48490delTTTATATATTATATTATATATAATAT ATTTATCTTATATATTATATTATATATAATATATTTATCTTATATATTAT ATTATATATAATATATTTAT	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP24_chr4_85470150_86007666	85875063	TTTATATA others(89): Show TTTATATATTATATTATATATAATATATTTATCTTATATATTATATTATA TATAATATATTTATCTTATATATTATATTATATATAATATATTTATC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG03486.hp2 others(2): Show HG01069.hp2 HG01071.hp2 HG03486.hp2 HG04115.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0005t0004g0037	5	108	0.0463	-96	c.269 others(115): Show c.269-48237_269-48142delTTATCTTATATATTATATTATATATA ATATATTTATCTTATATATTATATTATATATAATATATTTATCTTATATA TTATATTATATATAATATAT	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP39_chr8_144524179_144690846	144612148	TCCAGCCA others(89): Show TCCAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTC CAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	246	0.0041	-96	c.-81 others(113): Show c.-81-6549_-81-6454delTGTGCAGCGGCGCAGCCGTGGCTCACCT CACTCTGTCGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCA CTCTGTCGCCCTGGCTGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144635805	TCTGAGGC others(89): Show TCTGAGGCTACCGCCAGGTAGACAGTGTGGGGACTGAATTAGAGGGGGGC TGAGGCTACCGCCAGGTAGACAGTGTGGGGACTGAATTAGAGGGGGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(54): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp1 HG02148.hp1 HG02155.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18963.hp1 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18990.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19009.hp1 NA19056.hp2 NA19074.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0015 a0001c0016	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0007t0003 a0001c0015t0001 a0001c0016t0001	a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0100 others(54): Show a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0163 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0243 a0001c0002t0001g0003 a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0147 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0200 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0242 a0001c0002t0022g0217 a0001c0002t0023g0246 a0001c0003t0001g0110 a0001c0007t0003g0118 a0001c0015t0001g0101 a0001c0016t0001g0091	57	246	0.2317	-96	c.-81 others(115): Show c.-81-30206_-81-30111delCCCCCCTCTAATTCAGTCCCCACACT GTCTACCTGGCGGTAGCCTCAGCCCCCCTCTAATTCAGTCCCCACACTGT CTACCTGGCGGTAGCCTCAG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1839262	TACTGTCT others(89): Show TACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGTACTGTCCGGTGTGGGGA CTGTCTGGTGTGGGGACTGTCTGGTGTAGGGACTGTCTGGTGTGGGG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0320 a0001c0001t0019g0320	1	363	0.0028	-96	c.-47 others(113): Show c.-47-4059_-47-3964delTACTGTCCGGTGTGGGGACTGTCTGGTG TGGGGACTGTCTGGTGTAGGGACTGTCTGGTGTGGGGACTGTCTGGTGTG GAAGCTGTCTGGTGTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1840399	TGGTGTGG others(89): Show TGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCCGGTGTGGGGACTGTCCG GTGTGGAAGCTGTCCGGTGTGGGTACTGTCCTGTGTGGAAGCTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp1 HG01071.hp1 others(24): Show HG00558.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01243.hp1 HG01516.hp1 HG02083.hp2 HG02615.hp1 HG02683.hp2 HG02818.hp1 HG03239.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp2 NA18975.hp2 NA19060.hp1 NA19066.hp2 NA19080.hp1 NA20752.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0008 a0011 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0015 a0001c0021 a0001c0045 a0002c0024 a0002c0025 a0002c0027 a0002c0048 a0002c0121 a0002c0124 a0002c0125 a0004c0044 a0005c0137 a0008c0049 a0011c0138 a0016c0146 a0017c0126	a0001c0001t0006 a0001c0002t0001 a0001c0003t0003 others(23): Show a0001c0001t0006 a0001c0002t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0029 a0001c0003t0063 a0001c0004t0013 a0001c0004t0039 a0001c0007t0003 a0001c0009t0069 a0001c0015t0060 a0001c0021t0006 a0001c0045t0010 a0002c0024t0001 a0002c0025t0013 a0002c0027t0006 a0002c0048t0067 a0002c0121t0013 a0002c0124t0013 a0002c0125t0064 a0004c0044t0002 a0005c0137t0021 a0008c0049t0006 a0011c0138t0011 a0016c0146t0006 a0017c0126t0007	a0001c0001t0006g0115 a0001c0002t0001g0327 a0001c0003t0003g0161 others(23): Show a0001c0001t0006g0115 a0001c0002t0001g0327 a0001c0003t0003g0161 a0001c0003t0008g0288 a0001c0003t0029g0126 a0001c0003t0063g0089 a0001c0004t0013g0018 a0001c0004t0039g0076 a0001c0007t0003g0360 a0001c0009t0069g0302 a0001c0015t0060g0109 a0001c0021t0006g0128 a0001c0045t0010g0226 a0002c0024t0001g0117 a0002c0025t0013g0116 a0002c0027t0006g0100 a0002c0048t0067g0095 a0002c0121t0013g0110 a0002c0124t0013g0088 a0002c0125t0064g0310 a0004c0044t0002g0328 a0005c0137t0021g0112 a0008c0049t0006g0001 a0011c0138t0011g0353 a0016c0146t0006g0111 a0017c0126t0007g0113	27	363	0.0744	-96	c.-47 others(113): Show c.-47-2938_-47-2843delTGGTGTGGAAGCTGTCCGGTGTGGGGAC TGTCCGGTGTGGAAGCTGTCCGGTGTGGGTACTGTCCTGTGTGGAAGCTG TCCGGTGTGGGGACTGTC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1840467	GTGGGTAC others(89): Show GTGGGTACTGTCCTGTGTGGAAGCTGTCCGGTGTGGGGACTGTCCGGTGT GGAATCTGTCCGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01361.hp1 HG01978.hp1 others(12): Show HG00597.hp2 HG01361.hp1 HG01978.hp1 HG01981.hp2 HG02148.hp2 HG02165.hp1 HG03704.hp2 NA18942.hp1 NA18948.hp1 NA18954.hp2 NA18967.hp2 NA19058.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0006 a0001c0011 a0001c0069 others(10): Show a0001c0006 a0001c0011 a0001c0069 a0001c0153 a0001c0156 a0002c0033 a0002c0127 a0002c0149 a0002c0150 a0002c0151 a0007c0053 a0007c0147 a0007c0148	a0001c0006t0001 a0001c0011t0001 a0001c0011t0003 others(11): Show a0001c0006t0001 a0001c0011t0001 a0001c0011t0003 a0001c0069t0001 a0001c0153t0002 a0001c0156t0002 a0002c0033t0002 a0002c0127t0001 a0002c0149t0055 a0002c0150t0001 a0002c0151t0001 a0007c0053t0001 a0007c0147t0002 a0007c0148t0002	a0001c0006t0001g0008 a0001c0011t0001g0015 a0001c0011t0003g0144 others(12): Show a0001c0006t0001g0008 a0001c0011t0001g0015 a0001c0011t0003g0144 a0001c0069t0001g0012 a0001c0153t0002g0014 a0001c0156t0002g0007 a0002c0033t0002g0006 a0002c0127t0001g0013 a0002c0149t0055g0009 a0002c0150t0001g0005 a0002c0151t0001g0011 a0007c0053t0001g0010 a0007c0053t0001g0016 a0007c0147t0002g0004 a0007c0148t0002g0003	15	363	0.0413	-96	c.-47 others(113): Show c.-47-2881_-47-2786delTACTGTCCTGTGTGGAAGCTGTCCGGTG TGGGGACTGTCCGGTGTGGAATCTGTCCGGTGTGGGGACTGTCCGGTGTG GAAGCTGTCTGATATGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7362077	GAGAAGGA others(89): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	298	0.0034	-96	c.-11 others(113): Show c.-110-701_-110-606delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG GAGAAGAAGGAGAAGAAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARL13A_chrX_100964708_100995831	100972737	CGGACGGG others(89): Show CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0166 a0003c0003t0001g0166	1	280	0.0036	-96	c.-14 others(111): Show c.-14-930_-14-835delCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCG GCTGGCCGGGACGGGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL8B_chr3_5117292_5185911	5118220	ACATATGC others(89): Show ACATATGCTTATATATGTATATATATGTATAAGCATATGCTTATATATGT ATATATATGTATAAGCATATGCTTATATATGTATATATATGTATAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	304	0.0033	-96	c.-42 others(107): Show c.-4245_-4150delCATATGCTTATATATGTATATATATGTATAAGCA TATGCTTATATATGTATATATATGTATAAGCATATGCTTATATATGTATA TATATGTATAAG	ARL8B	ENSG00000134108.14	transcript	ENST00000256496.8	protein_coding		4071		chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)