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
AAK1_chr2_69452997_69648739	69464644	ACACACGT others(27): Show ACACACGTATACATGCACACACAAACCTGTACACT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 NA18950.hp2 NA19004.hp1 HG00558.hp1 NA18950.hp2 NA19004.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0071 a0001c0004t0072 a0001c0008t0098 a0001c0004t0071 a0001c0004t0072 a0001c0008t0098	a0001c0004t0071g0074 a0001c0004t0072g0093 a0001c0008t0098g0140 a0001c0004t0071g0074 a0001c0004t0072g0093 a0001c0008t0098g0140	3	298	0.0101	-34	c.11 others(47): Show c.11191_*11224delAGTGTACAGGTTTGTGTGTGCATGTATACGTG TG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	22/22	11191		chr2	TogoVar
AATK_chr17_81112295_81171221	81141014	ATGAGCCG others(27): Show ATGAGCCGTGGGGACCGTGGGGACCATGGGGACCG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0030 a0030	a0030c0043 a0030c0043	a0030c0043t0002 a0030c0043t0002	a0030c0043t0002g0312 a0030c0043t0002g0312	1	368	0.0027	-34	c.56- others(49): Show c.56-6547_56-6514delCGGTCCCCATGGTCCCCACGGTCCCCACGG CTCA	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABCA13_chr7_48166458_48652497	48411015	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0087 a0087	a0087c0039 a0087c0039	a0087c0039t0001 a0087c0039t0001	a0087c0039t0001g0003 a0087c0039t0001g0003	1	178	0.0056	-34	c.122 others(53): Show c.12228+362_12228+395delCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA8_chr17_68862289_68960392	68958556	TATATATA others(27): Show TATATATAATATATAATATATATATAAAATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	274	0.0037	-34	c.-35 others(45): Show c.-3538_-3505delTATATATTTTATATATATATTATATATTATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3165		chr17	TogoVar
ABCB5_chr7_20610667_20762008	20629266	GGGACTCA others(27): Show GGGACTCAGCAGAGAGCCAATGTTGCAGTTCAAAT	G G	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0002 a0002c0014t0003g0002	1	360	0.0028	-34	c.259 others(49): Show c.259+429_259+462delGGACTCAGCAGAGAGCCAATGTTGCAGTTC AAAT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	4/27			chr7	TogoVar
ABCC2_chr10_99777640_99857594	99814162	CGTATATA others(27): Show CGTATATATACACACATGTATGTATACACACATGT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	336	0.0030	-34	c.209 others(53): Show c.2094+1037_2094+1070delATGTATACACACATGTGTATATATAC ACACATGT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50674024	CTCTCTCT others(27): Show CTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	342	0.0029	-34	c.259 others(51): Show c.2599+370_2599+403delCTCTCTCTCTTTCTTTCTTTCTTTCTTT CTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674028	CTCTCTCT others(27): Show CTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	342	0.0029	-34	c.259 others(51): Show c.2599+374_2599+407delCTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95029197	TATATATA others(27): Show TATATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04204.hp2 HG02738.hp2 HG04204.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0193 a0002c0004t0002g0222 a0002c0004t0002g0193 a0002c0004t0002g0222	2	248	0.0081	-34	c.387 others(53): Show c.3870+5374_3870+5407delCTCTCTCTCTCTCTCTCTATATATAT ATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029199	TATATATA others(27): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0096 a0001c0003t0002g0096	1	248	0.0040	-34	c.387 others(53): Show c.3870+5372_3870+5405delCTCTCTCTCTCTCTCTCTCTATATAT ATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029201	TATATATA others(27): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01361.hp2 HG03239.hp1 others(1): Show HG00323.hp2 HG01361.hp2 HG03239.hp1 HG03704.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0017 a0001c0052 a0002c0005 others(1): Show a0001c0017 a0001c0052 a0002c0005 a0004c0030	a0001c0017t0002 a0001c0052t0002 a0002c0005t0002 others(1): Show a0001c0017t0002 a0001c0052t0002 a0002c0005t0002 a0004c0030t0002	a0001c0017t0002g0086 a0001c0052t0002g0068 a0002c0005t0002g0158 others(1): Show a0001c0017t0002g0086 a0001c0052t0002g0068 a0002c0005t0002g0158 a0004c0030t0002g0069	4	248	0.0161	-34	c.387 others(53): Show c.3870+5370_3870+5403delCTCTCTCTCTCTCTCTCTCTCTATAT ATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029203	TATATATA others(27): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03098.hp2 NA19005.hp1 HG00609.hp1 HG03098.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0002 a0001c0003t0002 a0001c0013t0006 a0001c0001t0002 a0001c0003t0002 a0001c0013t0006	a0001c0001t0002g0221 a0001c0003t0002g0114 a0001c0013t0006g0031 a0001c0001t0002g0221 a0001c0003t0002g0114 a0001c0013t0006g0031	3	248	0.0121	-34	c.387 others(53): Show c.3870+5368_3870+5401delCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029205	TATATATA others(27): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03704.hp1 HG02965.hp1 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0064 a0001c0003 a0002c0064	a0001c0003t0002 a0002c0064t0006 a0001c0003t0002 a0002c0064t0006	a0001c0003t0002g0076 a0002c0064t0006g0045 a0001c0003t0002g0076 a0002c0064t0006g0045	2	248	0.0081	-34	c.387 others(53): Show c.3870+5366_3870+5399delCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029207	TATATATA others(27): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	248	0.0040	-34	c.387 others(53): Show c.3870+5364_3870+5397delCTCTCTCTCTCTCTCTCTCTCTCTCT CTATATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029209	TATATAGA others(27): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18969.hp1 HG02735.hp2 NA18969.hp1	a0004 a0006 a0004 a0006	a0004c0006 a0006c0038 a0004c0006 a0006c0038	a0004c0006t0002 a0006c0038t0002 a0004c0006t0002 a0006c0038t0002	a0004c0006t0002g0061 a0006c0038t0002g0145 a0004c0006t0002g0061 a0006c0038t0002g0145	2	248	0.0081	-34	c.387 others(53): Show c.3870+5362_3870+5395delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTATAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029221	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 HG02451.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0046 a0001c0001 a0001c0046	a0001c0001t0001 a0001c0046t0001 a0001c0001t0001 a0001c0046t0001	a0001c0001t0001g0064 a0001c0046t0001g0078 a0001c0001t0001g0064 a0001c0046t0001g0078	2	248	0.0081	-34	c.387 others(53): Show c.3870+5350_3870+5383delTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95218913	GAGAGAGA others(27): Show GAGAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG04115.hp2 NA18966.hp1 others(7): Show HG02071.hp1 HG04115.hp2 NA18966.hp1 NA18974.hp1 NA18985.hp2 NA18994.hp2 NA19011.hp2 NA19012.hp2 NA19079.hp2 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0008t0001 a0003c0008t0002 a0003c0008t0010	a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0206 others(7): Show a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0206 a0001c0001t0002g0080 a0001c0001t0002g0203 a0003c0008t0001g0062 a0003c0008t0001g0205 a0003c0008t0001g0208 a0003c0008t0002g0207 a0003c0008t0010g0214	10	248	0.0403	-34	c.532 others(51): Show c.532-8166_532-8133delTTCTTTCTTTCTTTCTTTCTCTTTCTTT CTCTCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	4/30			chr13	TogoVar
ABCC8_chr11_17387885_17481845	17450244	TTTTCTTT others(27): Show TTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0028 a0002c0027t0001g0029 a0002c0027t0001g0028 a0002c0027t0001g0029	2	330	0.0061	-34	c.117 others(53): Show c.1177-1607_1177-1574delGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAGAAA	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	7/38			chr11	TogoVar
ABCG2_chr4_88085269_88163639	88128309	TTTACACT others(27): Show TTTACACTGTTGATGGGAGTGTAAATTAGTTCAAC	T T	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0299 a0003c0003t0001g0299	1	350	0.0029	-34	c.531 others(51): Show c.531+2718_531+2751delGTTGAACTAATTTACACTCCCATCAACA GTGTAA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	5/15			chr4	TogoVar
ABHD12B_chr14_50867053_50909970	50873902	TAGTGAAA others(27): Show TAGTGAAAAAAGTCTCAAGAGACACTTCCTGAAAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0225 a0002c0004t0002g0225	1	376	0.0027	-34	c.104 others(51): Show c.104+1626_104+1659delGTGAAAAAAGTCTCAAGAGACACTTCCT GAAAGA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD17A_chr19_1871810_1890496	1877048	TCTGTTGC others(27): Show TCTGTTGCCTGTACATCGTCCACAGCCCCTGGGTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	416	0.0024	-34	c.11 others(43): Show c.118_*151delGACCCAGGGGCTGTGGACGATGTACAGGCAACAG	ABHD17A	ENSG00000129968.17	transcript	ENST00000292577.12	protein_coding	5/5	118		chr19	TogoVar
ABHD17B_chr9_71860152_71916193	71861984	AATGTCTT others(27): Show AATGTCTTCTCCATTCTGCAAGCTCAAACTCAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02970.hp1 HG02451.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0028 a0001c0001t0001g0051	2	186	0.0108	-34	c.47 others(45): Show c.4769_*4802delCTTTGAGTTTGAGCTTGCAGAATGGAGAAGACAT	ABHD17B	ENSG00000107362.14	transcript	ENST00000333421.7	protein_coding		3167		chr9	TogoVar
ABHD2_chr15_89083456_89207355	89115367	GGTATGTG others(27): Show GGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG03195.hp1 HG01106.hp1 HG01891.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0012 a0001c0001t0001 a0001c0004t0012	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0004t0012g0226 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0004t0012g0226	3	234	0.0128	-34	c.-6- others(47): Show c.-6-952_-6-919delATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABI2_chr2_203323394_203437169	203338920	GTGTGTGT others(27): Show GTGTGTGTGTATATGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0102 a0001c0001t0005g0103	2	320	0.0063	-34	c.117 others(53): Show c.117+10291_117+10324delGTGTGTGTATATGTATATATATATAT ATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338926	GTGTATAT others(27): Show GTGTATATGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01255.hp2 HG01978.hp1 others(3): Show HG01167.hp2 HG01255.hp2 HG01978.hp1 HG02273.hp2 HG02723.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0211 others(3): Show a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0211 a0001c0001t0003g0221 a0001c0001t0003g0225 a0001c0001t0003g0288	6	320	0.0188	-34	c.117 others(53): Show c.117+10297_117+10330delGTATATGTATATATATATATATATAT ATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338949	TATATATA others(27): Show TATATATATATATAAATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	320	0.0031	-34	c.117 others(53): Show c.117+10332_117+10365delAATATATATATATATATATAAATATA TATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABLIM1_chr10_114426112_114663275	114583452	CACACACA others(27): Show CACACACACACACACACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19011.hp2 HG02622.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0038 a0001c0001t0005 a0001c0002t0038	a0001c0001t0005g0075 a0001c0002t0038g0248 a0001c0001t0005g0075 a0001c0002t0038g0248	2	256	0.0078	-34	c.380 others(51): Show c.380-7887_380-7854delATATATATATATATATATGTGTGTGTGT GTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583454	CACACACA others(27): Show CACACACACACACACATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG04204.hp2 HG03710.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0075 a0001c0001t0028 a0001c0001t0075	a0001c0001t0028g0088 a0001c0001t0075g0197 a0001c0001t0028g0088 a0001c0001t0075g0197	2	256	0.0078	-34	c.380 others(51): Show c.380-7889_380-7856delATATATATATATATATATATGTGTGTGT GTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583456	CACACACA others(27): Show CACACACACACACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0185 a0001c0001t0010g0185	1	256	0.0039	-34	c.380 others(51): Show c.380-7891_380-7858delATATATATATATATATATATATGTGTGT GTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583458	CACACACA others(27): Show CACACACACACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0101 a0001c0003t0101	a0001c0003t0101g0194 a0001c0003t0101g0194	1	256	0.0039	-34	c.380 others(51): Show c.380-7893_380-7860delATATATATATATATATATATATATGTGT GTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114601049	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0011 a0001c0004t0011g0011	1	256	0.0039	-34	c.379 others(49): Show c.379+744_379+777delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8155735	TAGGACAC others(27): Show TAGGACACAGACACACACAAAGGGAAGACGGGACG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG06807.hp1 others(1): Show HG01891.hp2 HG02615.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0014 a0001c0001t0017 a0001c0002t0002 others(1): Show a0001c0001t0014 a0001c0001t0017 a0001c0002t0002 a0001c0008t0006	a0001c0001t0014g0291 a0001c0001t0017g0300 a0001c0002t0002g0290 others(1): Show a0001c0001t0014g0291 a0001c0001t0017g0300 a0001c0002t0002g0290 a0001c0008t0006g0289	4	322	0.0124	-34	c.10+ others(49): Show c.10+2911_10+2944delCGTCCCGTCTTCCCTTTGTGTGTGTCTGTG TCCT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABR_chr17_998519_1184981	1009166	GTCCCCCA others(27): Show GTCCCCCACTGCTGTCCATCCCCACTGCTGTCCAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00609.hp2 others(106): Show HG00140.hp2 HG00323.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02293.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18971.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0002c0005 a0004c0011 a0005c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(26): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 a0001c0001t0021 a0001c0001t0033 a0001c0001t0043 a0001c0001t0044 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0090 a0001c0001t0091 a0001c0002t0001 a0001c0002t0005 a0001c0002t0042 a0001c0010t0001 a0002c0005t0001 a0004c0011t0009 a0005c0008t0020	a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0056 others(105): Show a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0005g0254 a0001c0001t0005g0266 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0291 a0001c0001t0005g0296 a0001c0001t0005g0304 a0001c0001t0005g0309 a0001c0001t0005g0315 a0001c0001t0005g0318 a0001c0001t0005g0320 a0001c0001t0005g0322 a0001c0001t0009g0004 a0001c0001t0009g0018 a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0009g0032 a0001c0001t0009g0034 a0001c0001t0009g0036 a0001c0001t0009g0045 a0001c0001t0009g0046 a0001c0001t0009g0050 a0001c0001t0020g0136 a0001c0001t0020g0161 a0001c0001t0021g0272 a0001c0001t0033g0327 a0001c0001t0043g0008 a0001c0001t0044g0021 a0001c0001t0065g0137 a0001c0001t0066g0236 a0001c0001t0067g0091 a0001c0001t0068g0160 a0001c0001t0069g0153 a0001c0001t0070g0213 a0001c0001t0071g0185 a0001c0001t0072g0175 a0001c0001t0073g0245 a0001c0001t0074g0115 a0001c0001t0076g0171 a0001c0001t0077g0067 a0001c0001t0090g0301 a0001c0001t0091g0286 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0110 a0001c0002t0001g0164 a0001c0002t0001g0205 a0001c0002t0005g0305 a0001c0002t0042g0016 a0001c0010t0001g0139 a0002c0005t0001g0186 a0002c0005t0001g0197 a0004c0011t0009g0029 a0005c0008t0020g0132	109	337	0.3234	-34	c.234 others(51): Show c.2342+479_2342+512delATGGACAGCAGTGGGGATGGACAGCAGT GGGGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	21/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107469908	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTCTCTCTCTCTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18954.hp2 HG02622.hp1 NA18954.hp2	a0001 a0010 a0001 a0010	a0001c0012 a0010c0017 a0001c0012 a0010c0017	a0001c0012t0004 a0010c0017t0003 a0001c0012t0004 a0010c0017t0003	a0001c0012t0004g0039 a0010c0017t0003g0111 a0001c0012t0004g0039 a0010c0017t0003g0111	2	186	0.0108	-34	c.113 others(55): Show c.1136-50563_1136-50530delCTCTCTCTCTCTTTCTTTCTCTTT CTTTCTTTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288275	CCCCGAGT others(27): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	295	0.0034	-34	c.52 others(45): Show c.5255_*5288delACGGAGCAGACACGGGACGGAGCAGAGACTCGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4115		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288385	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA21309.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0014 a0001c0001t0001g0020	2	295	0.0068	-34	c.51 others(45): Show c.5145_*5178delACGGAGCAGGGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4005		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289113	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	295	0.0034	-34	c.44 others(45): Show c.4417_*4450delACGGGGCAGAGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3277		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289518	TGCTCCGT others(27): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 NA20805.hp2 HG01975.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0005 a0001c0001t0001 a0002c0006t0005	a0001c0001t0001g0014 a0002c0006t0005g0208 a0001c0001t0001g0014 a0002c0006t0005g0208	2	295	0.0068	-34	c.40 others(45): Show c.4012_*4045delGGACACGGGACGGAGCAGGGACACGGGACGGAGC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2872		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289527	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	295	0.0034	-34	c.40 others(45): Show c.4003_*4036delACGGAGCAGGGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2863		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289545	CCGTGTCC others(27): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	295	0.0034	-34	c.39 others(45): Show c.3985_*4018delACGGAGCAGGGACACGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2845		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289581	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	295	0.0034	-34	c.39 others(45): Show c.3949_*3982delACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2809		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289975	TGCTCCGT others(27): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG00597.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0001t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0010g0148 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0010g0148 a0001c0002t0001g0090 a0001c0002t0001g0093	5	295	0.0170	-34	c.35 others(45): Show c.3555_*3588delGGACACGGGACGGAGCAGGGACACGGGACGGAGC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2415		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290074	CCGTGTCT others(27): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 NA18999.hp2 NA19000.hp1 others(1): Show HG00544.hp1 NA18999.hp2 NA19000.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0015 a0001c0001t0002g0025 a0001c0001t0003g0002 others(1): Show a0001c0001t0001g0015 a0001c0001t0002g0025 a0001c0001t0003g0002 a0001c0002t0002g0095	4	295	0.0136	-34	c.34 others(45): Show c.3456_*3489delACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2316		chr1	TogoVar
ACBD5_chr10_27190214_27245797	27245348	TGTATGAC others(27): Show TGTATGACAAAAATTAGTGAGATGAGAATTTGGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0272 a0001c0002t0001g0272	1	384	0.0026	-34	c.-46 others(45): Show c.-4694_-4661delTTCCAAATTCTCATCTCACTAATTTTTGTCATAC	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding		4552		chr10	TogoVar
ACER2_chr9_19404009_19457505	19427984	TTTTCCTT others(27): Show TTTTCCTTTCCTTTCCTTTTTCCTTTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02572.hp1 HG02717.hp2 others(6): Show HG00639.hp1 HG02572.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0003t0005	a0001c0001t0002g0308 a0001c0001t0009g0005 a0001c0001t0009g0305 others(4): Show a0001c0001t0002g0308 a0001c0001t0009g0005 a0001c0001t0009g0305 a0001c0001t0009g0306 a0001c0001t0016g0067 a0001c0003t0005g0129 a0001c0003t0005g0327	9	358	0.0251	-34	c.365 others(51): Show c.365+3162_365+3195delTTCCTTTTTCCTTTCCTTTCCTTTCCTT TCCTTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACER3_chr11_76855918_77031797	76950352	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02559.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0148 a0002c0002t0111 a0001c0003t0148 a0002c0002t0111	a0001c0003t0148g0014 a0002c0002t0111g0278 a0001c0003t0148g0014 a0002c0002t0111g0278	2	346	0.0058	-34	c.215 others(51): Show c.215-8601_215-8568delTATATATATATATATATATATATATATA TATATA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACOT7_chr1_6259272_6398767	6281300	AGGGCGGG others(27): Show AGGGCGGGGGTCAGGGCGGCCTCCACCCCACGGCT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01884.hp1 others(6): Show HG01167.hp2 HG01169.hp2 HG01884.hp1 HG02280.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 others(6): Show a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0004g0231 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0126	9	240	0.0375	-34	c.830 others(47): Show c.830-48_830-15delAGCCGTGGGGTGGAGGCCGCCCTGACCCCCGC CC	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	7/8			chr1	TogoVar
ACOX1_chr17_75936507_75984166	75956910	CCTCTCTC others(27): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0048	a0001c0003t0048g0013 a0001c0003t0048g0013	1	344	0.0029	-34	c.538 others(49): Show c.538+515_538+548delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956945	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0017 a0003c0005t0017	a0003c0005t0017g0036 a0003c0005t0017g0036	1	344	0.0029	-34	c.538 others(49): Show c.538+480_538+513delTATATATAGAGAGAGAGAGAGAGAGAGAGA GAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956947	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01891.hp1 HG01074.hp2 HG01891.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0007 a0003c0005t0017 a0001c0001t0007 a0003c0005t0017	a0001c0001t0007g0029 a0003c0005t0017g0042 a0001c0001t0007g0029 a0003c0005t0017g0042	2	344	0.0058	-34	c.538 others(49): Show c.538+478_538+511delTATATATATAGAGAGAGAGAGAGAGAGAGA GAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar

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