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
ABR_chr17_998519_1184981	1052434	T T	TTCACAGG others(37): Show TTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0198 a0001c0004t0048g0198	1	337	0.0030	44	c.156 others(63): Show c.1562-1844_1562-1801dupGCCCTCCCCCAGCCCCTTCCGGAACC CTCCCTCTGACCCTGTGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1053079	G G	GGGGCTGG others(37): Show GGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19005.hp2 HG00544.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0117 a0001c0001t0008g0042 a0001c0001t0003g0117 a0001c0001t0008g0042	2	337	0.0059	44	c.156 others(63): Show c.1562-2446_1562-2445insATTCCGGAACCCTCCCTCTGACCCTG TGAACCCTCCCCCAGCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1053163	G G	GGAAGGGG others(37): Show GGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0299 a0001c0001t0088g0299	1	337	0.0030	44	c.156 others(63): Show c.1562-2530_1562-2529insTGGAACCCTCCCTCTGACCCTGTGAG CCCTCCCCCAGCCCCTTC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1063223	C C	CATGAACT others(37): Show CATGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	337	0.0030	44	c.118 others(63): Show c.1182+3853_1182+3854insCGTAACAACAGTGTCTAGAGGAACAT GCATAGCCCTCAGTTCAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1078104	G G	GGTGTGTG others(37): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19066.hp2 NA18962.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0068 a0001c0001t0004g0312 a0001c0001t0003g0068 a0001c0001t0004g0312	2	337	0.0059	44	c.700 others(61): Show c.700+1225_700+1226insACACACACACACACACACACACACACAC ACACACACACACACAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22			chr17	TogoVar
ABR_chr17_998519_1184981	1082395	A A	AAGGCTGG others(37): Show AAGGCTGGGCCTCAGGAGCAGAAGCACGCGTGTTCCCAGCCAGGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02135.hp1 NA18747.hp2 others(4): Show HG02071.hp1 HG02135.hp1 NA18747.hp2 NA18962.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0033	a0001c0001t0004g0312 a0001c0001t0005g0309 a0001c0001t0006g0055 others(4): Show a0001c0001t0004g0312 a0001c0001t0005g0309 a0001c0001t0006g0055 a0001c0001t0007g0288 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0033g0264	7	337	0.0208	44	c.639 others(61): Show c.639+1124_639+1125insACCTGGCTGGGAACACGCGTGCTTCTGC TCCTGAGGCCCAGCCT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABR_chr17_998519_1184981	1082422	G G	GCGTGTTC others(37): Show GCGTGTTCCCAGCCAGGTAGGCTGGGCCTCAGGAGCAGAAGCACC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0083 a0001c0003t0083	a0001c0003t0083g0285 a0001c0003t0083g0285	1	337	0.0030	44	c.639 others(61): Show c.639+1097_639+1098insGGTGCTTCTGCTCCTGAGGCCCAGCCTA CCTGGCTGGGAACACG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABR_chr17_998519_1184981	1172969	C C	CCCACCCA others(37): Show CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0241 a0001c0001t0031g0241	1	337	0.0030	44	c.61+ others(59): Show c.61+6654_61+6697dupACTGAGGTGATGTGTTGGGTGGACTGAGGT GATGTGTTGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173084	C C	TCAACACA others(37): Show TCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0137 a0001c0001t0065g0137	1	337	0.0030	44	c.61+ others(59): Show c.61+6583_61+6584insGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(37): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0260 a0001c0001t0010g0260	1	337	0.0030	44	c.61+ others(59): Show c.61+6419_61+6420insGGGGGGGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173352	T T	TCAACACA others(37): Show TCAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0269 a0001c0001t0005g0269	1	337	0.0030	44	c.61+ others(59): Show c.61+6314_61+6315insGGTGGGCTGAGGTGATGGGGGGGGTGGGCT GAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACACB_chr12_109111587_109273226	109210003	A A	ATATACAC others(37): Show ATATACACACATACGTATGTGTGTATATATACACACGTACGTATG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0013 a0001c0011t0001g0013	1	308	0.0033	44	c.324 others(61): Show c.3249+651_3249+652insATACACACATACGTATGTGTGTATATAT ACACACGTACGTATGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210235	A A	ATATATAC others(37): Show ATATATACACACATGTGTGTATATGTATATATACACACATGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0005 a0008c0015t0005	a0008c0015t0005g0168 a0008c0015t0005g0168	1	308	0.0033	44	c.324 others(61): Show c.3249+887_3249+888insACACACATGTGTGTATATGTATATATAC ACACATGTGTGTATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACCS_chr11_44061270_44089237	44074734	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02055.hp2 HG02109.hp1 others(8): Show HG00099.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02647.hp1 NA18969.hp1 NA18987.hp2 NA19001.hp1 NA19054.hp2 NA19066.hp1 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0002 a0002c0004 a0003c0002	a0002c0004t0001 a0003c0002t0001 a0003c0002t0002 others(1): Show a0002c0004t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0007	a0002c0004t0001g0048 a0002c0004t0001g0076 a0002c0004t0001g0083 others(4): Show a0002c0004t0001g0048 a0002c0004t0001g0076 a0002c0004t0001g0083 a0003c0002t0001g0035 a0003c0002t0001g0198 a0003c0002t0002g0030 a0003c0002t0007g0094	11	438	0.0251	44	c.489 others(57): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074742	T T	TTCTTTCT others(37): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0093 a0004c0005t0001g0093	1	438	0.0023	44	c.489 others(57): Show c.489+94_489+95insCTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER1_chr19_6301142_6338612	6302812	T T	TACCTCAG others(37): Show TACCTCAGGAGGCTGAGGCACAACGACCTCCGCTGCCTGAACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	396	0.0025	44	c.39 others(55): Show c.3901_*3902insGGGGTTCAGGCAGCGGAGGTCGTTGTGCCTCAGC CTCCTGAGGT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding		3329		chr19	TogoVar
ACER3_chr11_76855918_77031797	77005982	T T	TATATTAT others(37): Show TATATTATATATATATACATATATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00741.hp1 HG01255.hp2 others(5): Show HG00280.hp1 HG00741.hp1 HG01255.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG02717.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0073 others(1): Show a0001c0001t0014 a0001c0001t0017 a0001c0001t0073 a0001c0001t0086	a0001c0001t0014g0199 a0001c0001t0014g0205 a0001c0001t0014g0206 others(5): Show a0001c0001t0014g0199 a0001c0001t0014g0205 a0001c0001t0014g0206 a0001c0001t0014g0209 a0001c0001t0017g0196 a0001c0001t0017g0197 a0001c0001t0073g0207 a0001c0001t0086g0208	8	346	0.0231	44	c.497 others(61): Show c.497+7165_497+7166insTATATATATATACATATATATATATATT ATATATATATACATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACKR2_chr3_42804445_42872286	42819396	A A	AGCTCTTT others(37): Show AGCTCTTTCCAGTAGAAAAGAGCTGGGCTCCCTCACTGTTTCCTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02683.hp2 HG02738.hp1 others(3): Show HG00423.hp1 HG02683.hp2 HG02738.hp1 HG03831.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0003 a0002c0002t0002 a0002c0002t0004 others(1): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0004 a0002c0003t0005	a0001c0001t0003g0042 a0002c0002t0002g0123 a0002c0002t0004g0039 others(3): Show a0001c0001t0003g0042 a0002c0002t0002g0123 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0003t0005g0249	6	342	0.0175	44	c.-11 others(61): Show c.-118-144_-118-101dupTCTTTCCAGTAGAAAAGAGCTGGGCTCC CTCACTGTTTCCTGGC	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACKR3_chr2_236564825_236587354	236566718	C C	CCCTTCCT others(37): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	394	0.0025	44	c.-32 others(55): Show c.-3233_-3232insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		3106		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 NA18939.hp2 NA18941.hp1 others(2): Show HG02148.hp2 NA18939.hp2 NA18941.hp1 NA18965.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0001t0001g0256 others(2): Show a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0270 a0001c0001t0001g0271	5	382	0.0131	44	c.-38 others(55): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGG AGGGAGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(37): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAAGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03139.hp2 NA19030.hp2 HG02486.hp1 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0019 a0001c0001t0001g0237 a0001c0001t0001g0239	3	382	0.0079	44	c.-38 others(55): Show c.-3832_-3831insGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAAGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACOXL_chr2_110727573_111123548	110950810	G G	GGAGAGAG others(37): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	150	0.0067	44	c.105 others(65): Show c.1059+17193_1059+17194insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACSBG1_chr15_78162468_78239565	78215724	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGGAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0080 a0003c0004t0003g0080	1	350	0.0029	44	c.132 others(61): Show c.132-7623_132-7622insTTCTTCCTTTCTTTCTTTCTTTCTTCCT TTCTTTCTTTCTTTCT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSF3_chr16_89088852_89161233	89131607	T T	TGAGGTGT others(37): Show TGAGGTGTTTGTTTTACTGTGACTTGGTTGGCTTAACTCTACAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0052 a0002c0003t0052	a0002c0003t0052g0240 a0002c0003t0052g0240	1	368	0.0027	44	c.124 others(63): Show c.1240-1527_1240-1484dupAGGTGTTTGTTTTACTGTGACTTGGT TGGCTTAACTCTACAAAG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAAAAA others(37): Show AAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	364	0.0028	44	c.159 others(61): Show c.1593+781_1593+782insAAAAAAAATATATATATATATATATATA TATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02004.hp2 HG04184.hp1 others(1): Show HG01255.hp2 HG02004.hp2 HG04184.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0188 a0001c0001t0001g0236 a0001c0001t0001g0289 others(1): Show a0001c0001t0001g0188 a0001c0001t0001g0236 a0001c0001t0001g0289 a0001c0001t0003g0234	4	364	0.0110	44	c.159 others(61): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACTN1_chr14_68869128_68984302	68881936	C C	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	284	0.0035	44	c.195 others(61): Show c.1953+521_1953+522insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	284	0.0035	44	c.106 others(63): Show c.106-24791_106-24790insTATATATATATATATATATATATATA CACACACACACACACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	284	0.0035	44	c.106 others(63): Show c.106-24791_106-24790insTATATATATATATATATATACATACA CACACACACACACACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02148.hp1 NA18960.hp2 HG01099.hp2 HG02148.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0006 a0001c0001t0001 a0001c0001t0003 a0001c0003t0006	a0001c0001t0001g0286 a0001c0001t0003g0174 a0001c0003t0006g0130 a0001c0001t0001g0286 a0001c0001t0003g0174 a0001c0003t0006g0130	3	344	0.0087	44	c.876 others(57): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA TATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737298	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0302 a0001c0002t0002g0302	1	344	0.0029	44	c.876 others(59): Show c.876+104_876+105insATATATATATATATATATATATATATATAT ATATATATATATAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTR3B_chr7_152754752_152860378	152785389	A A	AGGGGAGG others(37): Show AGGGGAGGGGGAGGGGGAGAGGGAGGGAGAGGGAGGGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp2 HG02615.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0181 a0001c0001t0001g0182	2	310	0.0065	44	c.100 others(61): Show c.100+2164_100+2207dupAGAGGGAGGGAGAGGGAGGGAGAGAGAG GGGGAGGGGGAGGGGG	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02083.hp1 HG02738.hp2 others(7): Show HG00323.hp2 HG02083.hp1 HG02738.hp2 HG02895.hp1 HG03834.hp2 NA18747.hp2 NA18906.hp2 NA18998.hp1 NA19084.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0030 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0030 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0002c0003t0002 a0002c0003t0006	a0001c0001t0001g0017 a0001c0001t0030g0098 a0001c0002t0001g0127 others(7): Show a0001c0001t0001g0017 a0001c0001t0030g0098 a0001c0002t0001g0127 a0001c0002t0001g0136 a0001c0002t0003g0021 a0001c0002t0003g0123 a0001c0002t0004g0138 a0001c0002t0007g0054 a0002c0003t0002g0034 a0002c0003t0006g0104	10	216	0.0463	44	c.544 others(61): Show c.544+1848_544+1891dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0379 a0001c0005t0006g0379	1	408	0.0025	44	c.108 others(63): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATATATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18978.hp2 HG03139.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0016 a0001c0003t0005g0315 a0001c0001t0001g0016 a0001c0003t0005g0315	2	408	0.0049	44	c.973 others(59): Show c.973-422_973-421insATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0088 a0001c0003t0010g0088	1	408	0.0025	44	c.973 others(59): Show c.973-422_973-421insATATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0069 a0001c0004t0002g0069	1	252	0.0040	44	c.114 others(63): Show c.1145+7304_1145+7305insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126251885	A A	AATGGATG others(37): Show AATGGATGGATGGGATGGATAGGATGGATGGATGGGATGGATAGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG02280.hp2 others(12): Show HG01192.hp1 HG01243.hp1 HG02280.hp2 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03579.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0002c0001	a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 others(11): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011 a0001c0003t0003 a0001c0004t0011 a0001c0004t0017 a0001c0004t0023 a0001c0012t0014 a0002c0001t0001 a0002c0001t0006 a0002c0001t0008 a0002c0001t0018	a0001c0002t0002g0186 a0001c0002t0005g0250 a0001c0002t0006g0016 others(12): Show a0001c0002t0002g0186 a0001c0002t0005g0250 a0001c0002t0006g0016 a0001c0002t0008g0017 a0001c0002t0011g0178 a0001c0002t0011g0191 a0001c0003t0003g0133 a0001c0004t0011g0177 a0001c0004t0017g0131 a0001c0004t0023g0014 a0001c0012t0014g0085 a0002c0001t0001g0244 a0002c0001t0006g0194 a0002c0001t0008g0104 a0002c0001t0018g0008	15	252	0.0595	44	c.260 others(63): Show c.260+26986_260+27029dupCCTATCCATCCCATCCATCCATCCTA TCCATCCCATCCATCCAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0023 a0001c0001t0035g0023	1	234	0.0043	44	c.957 others(59): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9521840	T T	TCTGCCTG others(37): Show TCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0215 a0001c0002t0006g0215	1	234	0.0043	44	c.844 others(59): Show c.844-525_844-524insGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC AGGCAGGCAGGCAG	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	7/18			chr2	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	230	0.0044	44	c.324 others(63): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0181 a0002c0002t0025g0181	1	230	0.0044	44	c.324 others(63): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS12_chr5_33518535_33896990	33849128	T T	TATATATA others(37): Show TATATATATGTATTGCATAGCAATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18970.hp2 NA18906.hp2 NA18970.hp2	a0001 a0005 a0001 a0005	a0001c0018 a0005c0006 a0001c0018 a0005c0006	a0001c0018t0008 a0005c0006t0011 a0001c0018t0008 a0005c0006t0011	a0001c0018t0008g0207 a0005c0006t0011g0018 a0001c0018t0008g0207 a0005c0006t0011g0018	2	224	0.0089	44	c.489 others(63): Show c.489+31990_489+31991insTGCTATGCAATACATATATATATTGC TATGCAATACATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849224	T T	TATATATA others(37): Show TATATATATGTATTGCATAGCAATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18980.hp1 HG03225.hp2 NA18980.hp1	a0001 a0026 a0001 a0026	a0001c0001 a0026c0033 a0001c0001 a0026c0033	a0001c0001t0001 a0026c0033t0001 a0001c0001t0001 a0026c0033t0001	a0001c0001t0001g0007 a0026c0033t0001g0195 a0001c0001t0001g0007 a0026c0033t0001g0195	2	224	0.0089	44	c.489 others(63): Show c.489+31894_489+31895insTGCTATGCAATACATATATATATTGC TATGCAATACATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849249	T T	TATATATA others(37): Show TATATATATGTATTGCATAGCAATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04204.hp1 NA18951.hp1 HG02683.hp1 HG04204.hp1 NA18951.hp1	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0004 a0006c0012 a0007c0010 a0002c0004 a0006c0012 a0007c0010	a0002c0004t0002 a0006c0012t0001 a0007c0010t0002 a0002c0004t0002 a0006c0012t0001 a0007c0010t0002	a0002c0004t0002g0017 a0006c0012t0001g0124 a0007c0010t0002g0123 a0002c0004t0002g0017 a0006c0012t0001g0124 a0007c0010t0002g0123	3	224	0.0134	44	c.489 others(63): Show c.489+31869_489+31870insTGCTATGCAATACATATATATATTGC TATGCAATACATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849297	T T	TATATATA others(37): Show TATATATATGTATTGCATAGCAATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0020 a0020	a0020c0053 a0020c0053	a0020c0053t0017 a0020c0053t0017	a0020c0053t0017g0001 a0020c0053t0017g0001	1	224	0.0045	44	c.489 others(63): Show c.489+31821_489+31822insTGCTATGCAATACATATATATATTGC TATGCAATACATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849487	T T	TATATATA others(37): Show TATATATATGTATTGCATAGCAATATATATATGTATTGCATAGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20129.hp2 HG02280.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0050 a0004c0049 a0001c0050 a0004c0049	a0001c0050t0005 a0004c0049t0014 a0001c0050t0005 a0004c0049t0014	a0001c0050t0005g0202 a0004c0049t0014g0190 a0001c0050t0005g0202 a0004c0049t0014g0190	2	224	0.0089	44	c.489 others(63): Show c.489+31631_489+31632insTGCTATGCAATACATATATATATTGC TATGCAATACATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849591	C C	CATGTGTA others(37): Show CATGTGTATTGCATAGCAATACACATGTGTATTGCATAGCAATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0025 a0004c0034t0025	a0004c0034t0025g0194 a0004c0034t0025g0194	1	224	0.0045	44	c.489 others(63): Show c.489+31527_489+31528insATATTGCTATGCAATACACATGTGTA TTGCTATGCAATACACAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS13_chr9_133417367_133464386	133460459	A A	AGGGCGGG others(37): Show AGGGCGGGGGGGCGGCGGGGGCGGCGGGGGCGGGGGGGGCGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG03491.hp1 HG03492.hp2 HG01496.hp1 HG03491.hp1 HG03492.hp2	a0002 a0019 a0002 a0019	a0002c0002 a0019c0025 a0002c0002 a0019c0025	a0002c0002t0001 a0019c0025t0001 a0002c0002t0001 a0019c0025t0001	a0002c0002t0001g0099 a0019c0025t0001g0125 a0019c0025t0001g0126 a0002c0002t0001g0099 a0019c0025t0001g0125 a0019c0025t0001g0126	3	364	0.0082	44	c.12 others(55): Show c.1279_*1280insGGGCGGGGGGGCGGCGGGGGCGGCGGGGGCGGGG GGGGCGGCGG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1074		chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133460463	C C	CGGGGGGG others(37): Show CGGGGGGGCGGCGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 NA19068.hp1 HG00642.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0101 a0002c0002t0001g0088 a0002c0002t0001g0101	2	364	0.0055	44	c.12 others(55): Show c.1283_*1284insGGGGGGGCGGCGGGGGCGGCGGGGGCGGGGGGGC GGCGGGGGCG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1078		chr9	TogoVar

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Search Results (Total: 4475 hits)