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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⚠️ 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
ACAP2_chr3_195269745_195448020	195337898	G G	GACCTGAG others(21): Show GACCTGAGCCCGGGGCCACTCCCACCTCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0263 a0001c0001t0023g0263	1	324	0.0031	28	c.529 others(43): Show c.529-950_529-923dupTGAGGTGGGAGTGGCCCCGGGCTCAGGT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	6/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195337936	C C	CGGGGCCA others(21): Show CGGGGCCACTCCCACCTCAACCTGAGCCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02257.hp2 HG02258.hp1 others(1): Show HG01975.hp1 HG02257.hp2 HG02258.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0109 a0001c0001t0012g0108 a0001c0001t0012g0110 others(1): Show a0001c0001t0008g0109 a0001c0001t0012g0108 a0001c0001t0012g0110 a0001c0001t0012g0134	4	324	0.0124	28	c.529 others(43): Show c.529-988_529-961dupAGGCTCAGGTTGAGGTGGGAGTGGCCCC	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	6/22			chr3	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02074.hp2 HG02523.hp2 others(6): Show HG00642.hp1 HG02074.hp2 HG02523.hp2 HG03654.hp1 HG03942.hp1 HG04228.hp2 NA18973.hp2 NA19070.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0001g0150 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285	9	386	0.0233	28	c.73- others(41): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	384	0.0026	28	c.375 others(45): Show c.375+2932_375+2933insAAAAAAAATATATATATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACCS_chr11_44061270_44089237	44074734	C C	CCCTTTCT others(21): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0293 a0003c0002t0003g0293	1	438	0.0023	28	c.489 others(41): Show c.489+53_489+54insCCTTTCTTTCTTTCTTTCTTTCTTTCTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14			chr11	TogoVar
ACCS_chr11_44061270_44089237	44074734	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(18): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG01346.hp2 HG02015.hp2 HG02080.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03209.hp2 HG03471.hp1 HG03927.hp2 NA18941.hp1 NA18983.hp2 NA18993.hp1 NA19056.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0002 a0001c0001 a0002c0004 a0003c0002	a0001c0001t0004 a0002c0004t0001 a0003c0002t0001 others(1): Show a0001c0001t0004 a0002c0004t0001 a0003c0002t0001 a0003c0002t0002	a0001c0001t0004g0087 a0002c0004t0001g0027 a0002c0004t0001g0034 others(13): Show a0001c0001t0004g0087 a0002c0004t0001g0027 a0002c0004t0001g0034 a0002c0004t0001g0057 a0002c0004t0001g0089 a0002c0004t0001g0106 a0002c0004t0001g0158 a0002c0004t0001g0237 a0002c0004t0001g0266 a0003c0002t0001g0032 a0003c0002t0001g0053 a0003c0002t0001g0208 a0003c0002t0002g0032 a0003c0002t0002g0053 a0003c0002t0002g0223 a0003c0002t0002g0231	21	438	0.0480	28	c.489 others(41): Show c.489+67_489+94dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACE2_chrX_15556033_15605960	15593391	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0046 a0001c0001t0001g0047	2	264	0.0076	28	c.346 others(45): Show c.346-1070_346-1069insCCTTCCTTCCTTCCTTCCTTCCTTCCTT	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	2/17			chrX	TogoVar
ACER3_chr11_76855918_77031797	77025392	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 NA18522.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0132 a0001c0003t0142 a0001c0003t0132 a0001c0003t0142	a0001c0003t0132g0343 a0001c0003t0142g0335 a0001c0003t0132g0343 a0001c0003t0142g0335	2	346	0.0058	28	c.50 others(39): Show c.5084_*5085insATATATATATATATATATATATATATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11	5085	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACIN1_chr14_23053564_23100136	23061971	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0002 a0005c0014t0002	a0005c0014t0002g0214 a0005c0014t0002g0214	1	350	0.0029	28	c.309 others(45): Show c.3099+196_3099+197insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding	16/18			chr14	TogoVar
ACKR3_chr2_236564825_236587354	236566718	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01975.hp1 HG02257.hp1 others(5): Show HG01884.hp1 HG01975.hp1 HG02257.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0002t0001g0025 a0001c0002t0001g0046 a0001c0002t0002g0070 a0001c0007t0001g0038	8	394	0.0203	28	c.-32 others(39): Show c.-3233_-3232insCCTTCCTTCCTTCCTTCCTTCCTTCCTT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		3106		chr2	TogoVar
ACLY_chr17_41861918_41923951	41900069	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18979.hp1 NA18957.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0003g0283 a0002c0002t0003g0284	2	294	0.0068	28	c.118 others(47): Show c.1184-1285_1184-1284insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	11/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134834771	G G	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03195.hp2 NA18967.hp2 HG02818.hp2 HG03195.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0330 a0001c0001t0001g0341 a0001c0001t0001g0302 a0001c0001t0001g0330 a0001c0001t0001g0341	3	382	0.0079	28	c.-39 others(39): Show c.-3912_-3911insGGAAGGAAGGAAGGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3844		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834775	G G	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	382	0.0026	28	c.-39 others(39): Show c.-3908_-3907insGGAAGGAAGGAAGGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3840		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	382	0.0026	28	c.-38 others(39): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAAGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 NA18962.hp1 HG01978.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0286 a0001c0001t0001g0159 a0001c0001t0001g0286	2	382	0.0052	28	c.-38 others(39): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA19005.hp2 NA19077.hp2 others(1): Show HG02083.hp2 NA19005.hp2 NA19077.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0264 a0001c0001t0001g0268 others(1): Show a0001c0001t0001g0170 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0269	4	382	0.0105	28	c.-38 others(39): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAGGGAGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(21): Show ATTATTATTATTATTATTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02886.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0358 a0001c0001t0001g0350 a0001c0001t0001g0358	2	382	0.0052	28	c.850 others(47): Show c.850-12093_850-12092insATTATTATTATTATTATTTTTTTTTT TT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(21): Show ATTATTATTATTATTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02717.hp2 HG00735.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0354 a0001c0001t0001g0355	2	382	0.0052	28	c.850 others(47): Show c.850-12093_850-12092insATTATTATTATTATTTTTTTTTTTTT TT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(21): Show ATTATTATTATTATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03486.hp2 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0349 a0001c0001t0001g0308 a0001c0001t0001g0349	2	382	0.0052	28	c.850 others(47): Show c.850-12093_850-12092insATTATTATTATTTTTTTTTTTTTTTT TT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(21): Show ATTATTATTATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	382	0.0026	28	c.850 others(47): Show c.850-12093_850-12092insATTATTATTTTTTTTTTTTTTTTTTT TT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134895328	T T	TTACATAT others(21): Show TTACATATATAATATATATATATGTTATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp1 HG02965.hp2 others(3): Show HG02486.hp1 HG02965.hp1 HG02965.hp2 HG03195.hp1 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0137 a0001c0001t0001g0138 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0186 a0001c0001t0001g0237	6	382	0.0157	28	c.850 others(45): Show c.850-3011_850-3010insCATATATAATATATATATATGTTATATA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01123.hp1 HG01257.hp1 others(5): Show HG01074.hp2 HG01123.hp1 HG01257.hp1 HG01261.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0058 a0001c0002t0001g0005 a0001c0002t0001g0009 others(1): Show a0001c0001t0001g0058 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0022	8	434	0.0184	28	c.-43 others(39): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT11_chr1_54543228_54615329	54599181	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0204 a0001c0006t0010g0204	1	388	0.0026	28	c.765 others(43): Show c.765-114_765-113insAAAATATATATATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT9_chrX_23696055_23748276	23742256	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0091 a0001c0001t0006g0091	1	309	0.0032	28	c.20+ others(41): Show c.20+868_20+869insATCTCTCTCTCTCTCTCTCTCTCTCTCT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOX1_chr17_75936507_75984166	75965337	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0312 a0001c0001t0005g0312	1	344	0.0029	28	c.270 others(45): Show c.270-4963_270-4962insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75968435	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03540.hp2 HG01069.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0004t0008 a0001c0001t0011 a0001c0004t0008	a0001c0001t0011g0128 a0001c0004t0008g0127 a0001c0001t0011g0128 a0001c0004t0008g0127	2	344	0.0058	28	c.270 others(45): Show c.270-8061_270-8060insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX2_chr3_58500136_58542190	58541624	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0301 a0001c0005t0002g0301	1	364	0.0028	28	c.-45 others(39): Show c.-4598_-4597insCACACACACACACACACACACACACACA	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding		4435		chr3	TogoVar
ACOXL_chr2_110727573_111123548	110846636	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0084 a0001c0003t0002g0084	1	150	0.0067	28	c.788 others(45): Show c.788+5235_788+5236insACACACACACACACACACACACACACAC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP2_chr11_47234302_47253814	47253134	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00733.hp2 others(23): Show HG00558.hp1 HG00558.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01255.hp2 HG01934.hp2 HG01978.hp1 HG02109.hp1 HG02273.hp2 HG02293.hp2 HG02698.hp1 HG02717.hp2 HG03491.hp1 HG03492.hp1 HG04199.hp1 NA18959.hp2 NA18960.hp1 NA19079.hp1 NA19079.hp2 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056	26	358	0.0726	28	c.-43 others(39): Show c.-4346_-4345insACACACACACACACACACACACACACAC	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding		4321		chr11	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02109.hp2 HG02523.hp2 others(8): Show HG02056.hp2 HG02109.hp2 HG02523.hp2 HG02717.hp1 HG02970.hp2 HG03225.hp2 HG04199.hp1 HG04204.hp2 NA18941.hp2 NA18945.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0027 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0023	a0001c0001t0002g0031 a0001c0001t0007g0134 a0001c0001t0009g0133 others(8): Show a0001c0001t0002g0031 a0001c0001t0007g0134 a0001c0001t0009g0133 a0001c0001t0027g0098 a0001c0002t0003g0097 a0001c0002t0003g0100 a0001c0002t0004g0108 a0001c0002t0004g0126 a0001c0002t0004g0175 a0001c0002t0011g0099 a0001c0002t0023g0067	11	368	0.0299	28	c.121 others(45): Show c.121-2648_121-2647insACACACACACACACACACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132348999	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01993.hp2 HG02155.hp2 others(7): Show HG01928.hp1 HG01993.hp2 HG02155.hp2 HG02273.hp2 HG02738.hp2 HG03834.hp1 NA18945.hp2 NA18987.hp1 NA18991.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0004 a0001c0002t0023 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0023 a0001c0003t0006	a0001c0002t0003g0039 a0001c0002t0004g0015 a0001c0002t0004g0048 others(6): Show a0001c0002t0003g0039 a0001c0002t0004g0015 a0001c0002t0004g0048 a0001c0002t0004g0060 a0001c0002t0004g0092 a0001c0002t0023g0067 a0001c0002t0023g0068 a0001c0003t0006g0112 a0001c0003t0006g0114	10	368	0.0272	28	c.782 others(43): Show c.782-906_782-905insACACACACACACACACACACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18522.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	2	444	0.0045	28	c.735 others(43): Show c.735+236_735+237insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACP7_chr19_39079368_39116493	39102767	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0064 a0001c0004t0004g0064	1	402	0.0025	28	c.111 others(47): Show c.1113+1231_1113+1232insTTCTTTCTTTCTTTCTTTTTCTTTCT TT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACRV1_chr11_125666522_125685847	125678977	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0130 a0001c0001t0011g0130	1	426	0.0024	28	c.53- others(41): Show c.53-681_53-680insATATATATATATATATATATATATATAT	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACRV1_chr11_125666522_125685847	125678978	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01243.hp1 others(28): Show HG00735.hp1 HG01106.hp2 HG01243.hp1 HG01257.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02155.hp2 HG02300.hp2 HG02559.hp1 HG02647.hp2 HG02809.hp2 HG02976.hp2 HG03225.hp2 HG03540.hp1 HG03710.hp1 HG04184.hp1 NA18747.hp2 NA18944.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18979.hp2 NA18984.hp1 NA18989.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19072.hp2 NA19081.hp2 NA20300.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0004c0004t0002 a0007c0006t0002	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0063 others(11): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0115 a0001c0001t0002g0013 a0001c0001t0002g0081 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0003c0003t0001g0078 a0004c0004t0002g0106 a0007c0006t0002g0105	31	426	0.0728	28	c.53- others(41): Show c.53-682_53-681insTATATATATATATATATATATATATATA	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACRV1_chr11_125666522_125685847	125678978	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	2	426	0.0047	28	c.53- others(41): Show c.53-682_53-681insTATATATATATATATATATATATATAAA	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACSBG1_chr15_78162468_78239565	78215724	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGGAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19002.hp1 NA19004.hp2 NA18980.hp2 NA19002.hp1 NA19004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0208 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0208 a0002c0003t0001g0239 a0002c0003t0001g0240	3	350	0.0086	28	c.132 others(45): Show c.132-7623_132-7622insTTCTTTCTTCCTTTCTTTCTTTCTTTCT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSF3_chr16_89088852_89161233	89158278	G G	GGTATGTC others(21): Show GGTATGTCTCACGCCTGCATATGTCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02055.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0241 a0001c0001t0016g0242 a0001c0001t0016g0241 a0001c0001t0016g0242	2	368	0.0054	28	c.40 others(39): Show c.4071_*4072insGTATGTCTCACGCCTGCATATGTCACAT	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		2046		chr16	TogoVar
ACSL1_chr4_184750595_184830968	184769070	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	392	0.0051	28	c.994 others(43): Show c.994-621_994-620insATATATATATATATATATATATATATAT	ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding	11/20			chr4	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	364	0.0028	28	c.159 others(45): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	364	0.0028	28	c.159 others(45): Show c.1593+781_1593+782insAATATATATATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM1_chr16_20618235_20702680	20678011	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19010.hp2 HG03471.hp1 NA19010.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0015 a0001c0001 a0009c0015	a0001c0001t0002 a0009c0015t0002 a0001c0001t0002 a0009c0015t0002	a0001c0001t0002g0244 a0009c0015t0002g0258 a0001c0001t0002g0244 a0009c0015t0002g0258	2	318	0.0063	28	c.611 others(45): Show c.611+4217_611+4244dupATTTATTTATTTATTTATTTATTTATTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	4/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20408194	T T	TCCAGAGT others(21): Show TCCAGAGTAGCTGGGACTACAGGCGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	434	0.0023	28	c.-14 others(39): Show c.-1487_-1486insCCAGAGTAGCTGGGACTACAGGCGCCCA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding		1339		chr16	TogoVar
ACSS1_chr20_25001237_25063139	25037001	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02055.hp1 HG02145.hp2 others(5): Show HG01081.hp1 HG02055.hp1 HG02145.hp2 HG02486.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0001c0007 a0005c0020 a0001c0003 a0001c0007 a0005c0020	a0001c0003t0003 a0001c0007t0006 a0005c0020t0006 a0001c0003t0003 a0001c0007t0006 a0005c0020t0006	a0001c0003t0003g0128 a0001c0003t0003g0130 a0001c0003t0003g0131 others(5): Show a0001c0003t0003g0128 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0146 a0001c0003t0003g0176 a0001c0003t0003g0205 a0001c0007t0006g0135 a0005c0020t0006g0023	8	244	0.0328	28	c.432 others(45): Show c.432-6044_432-6043insCCTTCCTTCCTTCCTTCCTTCCTTCCTT	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	2/13			chr20	TogoVar
ACSS3_chr12_81073079_81266210	81148497	A A	ATTTAACA others(21): Show ATTTAACAAATGTTAAATGTTATTTAAAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	290	0.0035	28	c.922 others(45): Show c.922-3347_922-3346insTTTAACAAATGTTAAATGTTATTTAAAC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	5/15			chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213896	T T	TTTTCCTT others(21): Show TTTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp2 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0133 a0001c0008t0002g0134 a0001c0008t0002g0133 a0001c0008t0002g0134	2	290	0.0069	28	c.135 others(47): Show c.1355-3005_1355-3004insTTTCCTTCCTTCCTTCCTTCCTTCCT TC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15			chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0018 a0001c0013t0018	a0001c0013t0018g0290 a0001c0013t0018g0290	1	290	0.0035	28	c.135 others(47): Show c.1355-2929_1355-2928insCTCTTTCTTTCTTTCTTTCTTTCTTT CT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213957	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 NA19007.hp1 HG02486.hp2 HG02717.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0257 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0257	3	290	0.0103	28	c.135 others(47): Show c.1355-2921_1355-2894dupTTTCTTTCTTTCTTTCTTTCTTTCTT TC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18993.hp2 HG02083.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0196 a0001c0002t0003g0197	2	284	0.0070	28	c.106 others(47): Show c.106-24791_106-24790insTATATATATATATACACACACACACA CA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02280.hp2 HG02451.hp2 others(4): Show HG00597.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG02886.hp2 HG03579.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0008 a0001c0003t0007	a0001c0001t0001g0151 a0001c0001t0002g0023 a0001c0001t0002g0107 others(4): Show a0001c0001t0001g0151 a0001c0001t0002g0023 a0001c0001t0002g0107 a0001c0002t0003g0150 a0001c0002t0003g0203 a0001c0002t0008g0149 a0001c0003t0007g0104	7	284	0.0247	28	c.106 others(47): Show c.106-24791_106-24790insTATATATATACACACACACACACACA CA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar

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