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
ABHD17C_chr15_80690310_80760621	80705333	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTATGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	360	0.0028	22	c.590 others(39): Show c.590+9329_590+9330insATGTGTGTGTGTGTGTGTGTGT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00738.hp2 others(16): Show HG00099.hp1 HG00609.hp1 HG00738.hp2 HG01496.hp2 HG02109.hp2 HG02257.hp1 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18973.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA19058.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(16): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0157 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0003g0151 a0001c0001t0003g0188	19	360	0.0528	22	c.590 others(39): Show c.590+9327_590+9348dupTGTGTGTGTGTGTGTGTGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80705362	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18980.hp2 NA19001.hp2 others(2): Show HG02056.hp2 NA18980.hp2 NA19001.hp2 NA19070.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0325 a0001c0001t0005g0323 a0001c0001t0005g0324 others(2): Show a0001c0001t0003g0325 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0326 a0001c0001t0005g0336	5	360	0.0139	22	c.590 others(39): Show c.590+9348_590+9349insTGTGTGTGTGTGTGTGGGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127706	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp2 HG02976.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0007 a0001c0001t0013 a0001c0002t0007	a0001c0001t0013g0154 a0001c0002t0007g0153 a0001c0001t0013g0154 a0001c0002t0007g0153	2	234	0.0086	22	c.194 others(41): Show c.194+11198_194+11199insTATATATATATATATATATATA	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127724	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0001 a0001c0004t0012g0001	1	234	0.0043	22	c.194 others(41): Show c.194+11219_194+11220insATATACATATATATATATATAT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89205168	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	234	0.0043	22	c.97 others(33): Show c.9745_*9746insTCTCTCTCTCTCTCTCTCTCTT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding		2814		chr15	TogoVar
ABHD2_chr15_89083456_89207355	89205179	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	234	0.0043	22	c.97 others(33): Show c.9756_*9757insCTCTCTCTCTCTCTCTCTCTCC	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding		2825		chr15	TogoVar
ABHD3_chr18_21645901_21709774	21700827	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02622.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0117 a0001c0001t0018g0290 a0001c0001t0001g0117 a0001c0001t0018g0290	2	304	0.0066	22	c.509 others(39): Show c.509+1467_509+1488dupTTTTTTTTTTTTTTTTTTTTTT	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	3/8			chr18	TogoVar
ABHD5_chr3_43685938_43727725	43691621	G G	GGCTGGCG others(15): Show GGCTGGCGGAGGTACTATATGTA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	286	0.0035	22	c.47+ others(35): Show c.47+582_47+583insGCTGGCGGAGGTACTATATGTA	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	1/6			chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GCATATAT others(15): Show GCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02622.hp2 HG02698.hp2 HG02074.hp1 HG02622.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0205 a0001c0001t0001g0252 a0001c0001t0001g0182 a0001c0001t0001g0205 a0001c0001t0001g0252	3	302	0.0099	22	c.837 others(39): Show c.837+1395_837+1396insCATATATATATATATATATATA	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9			chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286850	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp2 HG02886.hp2 others(1): Show HG01361.hp1 HG01516.hp2 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0290 others(1): Show a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0290 a0001c0001t0007g0243	4	302	0.0133	22	c.837 others(39): Show c.837+1398_837+1399insATATATATATATATATATATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02897.hp1 NA18955.hp2 others(2): Show HG02083.hp2 HG02897.hp1 NA18955.hp2 NA19066.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0162 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0132 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0232 a0001c0001t0001g0235	5	358	0.0140	22	c.463 others(39): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26798928	G G	GCATGTAC others(15): Show GCATGTACACATGTAACAAATCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18941.hp1 NA18967.hp2 others(4): Show HG02015.hp2 NA18941.hp1 NA18967.hp2 NA18969.hp2 NA18974.hp1 NA18994.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(4): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009	7	358	0.0196	22	c.286 others(41): Show c.286-21709_286-21688dupAGATTTGTTACATGTGTACATG	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26811736	A A	AATTTGTA others(15): Show AATTTGTATAAATTTATGCAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	358	0.0028	22	c.285 others(41): Show c.285+11380_285+11401dupCTTTGCATAAATTTATACAAAT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26851348	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG02109.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0019 a0001c0001t0008g0018 a0001c0001t0001g0019 a0001c0001t0008g0018	2	358	0.0056	22	c.117 others(39): Show c.117+9377_117+9398dupAAAAAAAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203385139	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00609.hp1 others(15): Show HG00423.hp1 HG00597.hp1 HG00609.hp1 HG00735.hp2 HG01952.hp2 HG02273.hp1 HG03225.hp1 HG03491.hp1 HG03688.hp1 NA18970.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA19004.hp2 NA19063.hp1 NA19091.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0181 a0001c0001t0001g0212 a0001c0001t0001g0218 others(15): Show a0001c0001t0001g0181 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0280 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0304 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0025g0266	18	320	0.0563	22	c.480 others(39): Show c.480+2946_480+2947insTTTTTTTTTTTTTTTTTTTTTT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203395432	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0319 a0001c0001t0022g0319	1	320	0.0031	22	c.726 others(37): Show c.726-207_726-206insTATATATATATATATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100869330	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02071.hp1 HG01978.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0001 a0001c0001t0006 a0001c0005t0001	a0001c0001t0006g0203 a0001c0005t0001g0058 a0001c0001t0006g0203 a0001c0005t0001g0058	2	238	0.0084	22	c.911 others(39): Show c.911-2396_911-2375dupAAAAAAAAAAAAAAAAAAAAAA	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	9/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100894938	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01975.hp2 HG02083.hp1 others(2): Show HG00597.hp2 HG01975.hp2 HG02083.hp1 NA18966.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0032 a0001c0001 a0001c0005 a0001c0032	a0001c0001t0002 a0001c0001t0031 a0001c0005t0001 others(1): Show a0001c0001t0002 a0001c0001t0031 a0001c0005t0001 a0001c0032t0005	a0001c0001t0002g0080 a0001c0001t0031g0052 a0001c0005t0001g0062 others(2): Show a0001c0001t0002g0080 a0001c0001t0031g0052 a0001c0005t0001g0062 a0001c0005t0001g0084 a0001c0032t0005g0111	5	238	0.0210	22	c.461 others(39): Show c.461+3802_461+3823dupTTTTTTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100894965	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp1 HG01106.hp2 others(3): Show HG00544.hp2 HG00733.hp1 HG01106.hp2 HG01192.hp2 HG01358.hp1 HG01952.hp2	a0001 a0003 a0028 others(1): Show a0001 a0003 a0028 a0030	a0001c0004 a0001c0059 a0003c0050 others(2): Show a0001c0004 a0001c0059 a0003c0050 a0028c0063 a0030c0052	a0001c0004t0002 a0001c0004t0003 a0001c0059t0002 others(3): Show a0001c0004t0002 a0001c0004t0003 a0001c0059t0002 a0003c0050t0002 a0028c0063t0001 a0030c0052t0001	a0001c0004t0002g0028 a0001c0004t0003g0023 a0001c0059t0002g0029 others(3): Show a0001c0004t0002g0028 a0001c0004t0003g0023 a0001c0059t0002g0029 a0003c0050t0002g0121 a0028c0063t0001g0020 a0030c0052t0001g0035	6	238	0.0252	22	c.461 others(39): Show c.461+3796_461+3797insGTTTTTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100940829	T T	TATATATA others(15): Show TATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01978.hp1 others(6): Show HG00733.hp1 HG01123.hp2 HG01978.hp1 HG02809.hp2 HG03516.hp1 HG03704.hp1 NA18948.hp2 NA18966.hp1 NA19086.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0013 others(4): Show a0001c0001 a0001c0005 a0001c0013 a0002c0002 a0002c0010 a0003c0003 a0003c0050	a0001c0001t0002 a0001c0001t0010 a0001c0005t0004 others(6): Show a0001c0001t0002 a0001c0001t0010 a0001c0005t0004 a0001c0013t0002 a0002c0002t0002 a0002c0002t0011 a0002c0010t0002 a0003c0003t0006 a0003c0050t0002	a0001c0001t0002g0080 a0001c0001t0010g0002 a0001c0005t0004g0199 others(6): Show a0001c0001t0002g0080 a0001c0001t0010g0002 a0001c0005t0004g0199 a0001c0013t0002g0122 a0002c0002t0002g0104 a0002c0002t0011g0176 a0002c0010t0002g0107 a0003c0003t0006g0214 a0003c0050t0002g0121	9	238	0.0378	22	c.80- others(39): Show c.80-14349_80-14348insCTATATATATATATATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	1/67			chr3	TogoVar
ABL2_chr1_179094330_179234677	179175290	G G	GATGTCAA others(15): Show GATGTCAATGCCAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG00735.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0104 a0001c0001t0056 a0001c0001t0104	a0001c0001t0056g0020 a0001c0001t0104g0278 a0001c0001t0056g0020 a0001c0001t0104g0278	2	350	0.0057	22	c.158 others(41): Show c.158-41938_158-41917dupTTTCTCTCTCTGGCATTGACAT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179178401	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG00735.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0104 a0001c0001t0056 a0001c0001t0104	a0001c0001t0056g0020 a0001c0001t0104g0278 a0001c0001t0056g0020 a0001c0001t0104g0278	2	350	0.0057	22	c.158 others(41): Show c.158-45028_158-45027insTTTTTTTTTTTTTTTTTTTTTT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179214519	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0117 a0001c0001t0063g0117	1	350	0.0029	22	c.157 others(41): Show c.157+14700_157+14721dupATATATATATATATATATATAT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179231913	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0304 a0001c0001t0097g0304	1	350	0.0029	22	c.-25 others(33): Show c.-2517_-2516insTATATATATATATATATATATA	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding		2237		chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	256	0.0039	22	c.982 others(37): Show c.982+778_982+779insTATATATATATATATATACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0162 a0001c0001t0047g0162	1	256	0.0039	22	c.982 others(37): Show c.982+778_982+779insTATATATATATATATACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0196 a0001c0002t0061g0196	1	256	0.0039	22	c.982 others(37): Show c.982+778_982+779insTATATATATATATACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583468	C C	CACACACA others(15): Show CACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0184 a0001c0002t0005g0184	1	256	0.0039	22	c.380 others(39): Show c.380-7870_380-7869insATATATATATATGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583468	C C	CACACACA others(15): Show CACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0206 a0001c0002t0003g0206	1	256	0.0039	22	c.380 others(39): Show c.380-7870_380-7869insATATATATATATATATGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7969730	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01261.hp1 others(16): Show HG00099.hp2 HG00423.hp2 HG01261.hp1 HG01496.hp2 HG02129.hp1 HG02257.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG03453.hp2 HG04204.hp1 NA18747.hp1 NA18952.hp1 NA18983.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19088.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001 a0001c0003t0001 a0001c0003t0007 a0001c0004t0007 a0003c0007t0001	a0001c0001t0001g0017 a0001c0001t0001g0080 a0001c0001t0001g0098 others(16): Show a0001c0001t0001g0017 a0001c0001t0001g0080 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0135 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0311 a0001c0001t0007g0236 a0001c0001t0016g0111 a0001c0001t0017g0300 a0001c0002t0001g0059 a0001c0002t0001g0074 a0001c0002t0001g0125 a0001c0002t0001g0182 a0001c0003t0001g0214 a0001c0003t0007g0217 a0001c0004t0007g0131 a0003c0007t0001g0297	19	322	0.0590	22	c.182 others(41): Show c.1825-2649_1825-2628dupGTGTGTGTGTGTGTGTGTGTGT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	7973075	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03831.hp2 HG03834.hp1 HG02818.hp2 HG03831.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0002t0004 a0001c0001t0001 a0001c0001t0010 a0001c0002t0004	a0001c0001t0001g0278 a0001c0001t0010g0127 a0001c0002t0004g0075 a0001c0001t0001g0278 a0001c0001t0010g0127 a0001c0002t0004g0075	3	322	0.0093	22	c.182 others(41): Show c.1825-5994_1825-5973dupCACACACACACACACACACACA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	7980941	A A	ATCTTTTT others(15): Show ATCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0010 a0001c0001t0017g0203 a0001c0001t0002g0010 a0001c0001t0017g0203	2	322	0.0062	22	c.182 others(41): Show c.1824+2322_1824+2323insAAAAAAAAAAAAAAAAAAAAGA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	7980941	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19090.hp1 NA19090.hp2 HG01123.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0003 a0001c0002t0001 a0001c0004t0003	a0001c0002t0001g0120 a0001c0002t0001g0145 a0001c0004t0003g0065 a0001c0002t0001g0120 a0001c0002t0001g0145 a0001c0004t0003g0065	3	322	0.0093	22	c.182 others(41): Show c.1824+2322_1824+2323insAAAAAAAAAAAAAAAAAAAAAA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8117631	T T	TCCACCCA others(15): Show TCCACCCACTTTTCCTCTGGCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp2 HG01516.hp1 HG00642.hp2 HG01175.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0133 a0001c0002t0001g0034 a0001c0002t0001g0259 a0001c0001t0002g0133 a0001c0002t0001g0034 a0001c0002t0001g0259	3	322	0.0093	22	c.11- others(39): Show c.11-11016_11-10995dupGGGCCAGAGGAAAAGTGGGTGG	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149170228	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0075 a0001c0002t0005g0075	1	258	0.0039	22	c.14- others(39): Show c.14-13209_14-13188dupTCTCTCTCTCTCTCTCTCTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABRA_chr8_106754483_106775244	106758499	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	440	0.0023	22	c.25 others(33): Show c.2537_*2538insAAAAAAAAAAAAAAAAAAAAAA	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding		983		chr8	TogoVar
ABR_chr17_998519_1184981	999323	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02683.hp2 HG03017.hp2 others(1): Show HG02074.hp1 HG02683.hp2 HG03017.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0032 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0032 a0001c0001t0061	a0001c0001t0003g0092 a0001c0001t0008g0024 a0001c0001t0032g0259 others(1): Show a0001c0001t0003g0092 a0001c0001t0008g0024 a0001c0001t0032g0259 a0001c0001t0061g0149	4	337	0.0119	22	c.67 others(33): Show c.6735_*6756dupTATATATATATATATATATATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4195		chr17	TogoVar
ABR_chr17_998519_1184981	999358	T T	TATATATA others(15): Show TATATATATATATACATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG03453.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0023 a0001c0002t0042 a0001c0001t0017 a0001c0001t0023 a0001c0002t0042	a0001c0001t0017g0225 a0001c0001t0023g0035 a0001c0002t0042g0016 a0001c0001t0017g0225 a0001c0001t0023g0035 a0001c0002t0042g0016	3	337	0.0089	22	c.67 others(33): Show c.6721_*6722insGTATATATGTATATATATATAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar
ABR_chr17_998519_1184981	999358	T T	TATATATA others(15): Show TATATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0083 a0001c0003t0083	a0001c0003t0083g0285 a0001c0003t0083g0285	1	337	0.0030	22	c.67 others(33): Show c.6721_*6722insGTGTATATATATATATATATAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar
ABR_chr17_998519_1184981	1024024	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	337	0.0030	22	c.179 others(43): Show c.1792-10882_1792-10861dupTTTTTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1079788	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	337	0.0030	22	c.640 others(37): Show c.640-420_640-399dupTTTTTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABR_chr17_998519_1184981	1172969	C C	CCCACCCA others(15): Show CCCACCCAACACATCACCTCAGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	337	0.0030	22	c.61+ others(37): Show c.61+6676_61+6697dupACTGAGGTGATGTGTTGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173106	C C	CCAACACA others(15): Show CCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	337	0.0030	22	c.61+ others(37): Show c.61+6560_61+6561insAGTGGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(15): Show ACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18940.hp2 NA18995.hp1 HG02622.hp1 NA18940.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0043 a0001c0001t0002 a0001c0001t0006 a0001c0001t0043	a0001c0001t0002g0152 a0001c0001t0006g0206 a0001c0001t0043g0008 a0001c0001t0002g0152 a0001c0001t0006g0206 a0001c0001t0043g0008	3	337	0.0089	22	c.61+ others(37): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173281	C C	CCCACCCA others(15): Show CCCACCCAACACATCACCTCAGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	337	0.0030	22	c.61+ others(37): Show c.61+6364_61+6385dupACTGAGGTGATGTGTTGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173286	C C	CCAACACA others(15): Show CCAACACATCACCTCAGTCCACT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0076 a0001c0001t0058g0076	1	337	0.0030	22	c.61+ others(37): Show c.61+6380_61+6381insAGTGGACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34214139	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG02922.hp1 HG02615.hp2 HG02818.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0156 a0002c0002t0002g0194 a0002c0002t0002g0221 a0001c0001t0001g0156 a0002c0002t0002g0194 a0002c0002t0002g0221	3	246	0.0122	22	c.884 others(39): Show c.884-9471_884-9450dupGTGTGTGTGTGTGTGTGTGTGT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107481883	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0135 a0001c0003t0005g0135	1	186	0.0054	22	c.113 others(43): Show c.1136-38580_1136-38559dupCTCTCTCTCTCTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107503756	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19086.hp2 HG02056.hp2 NA19086.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0016 a0003c0004t0001 a0003c0004t0016	a0003c0004t0001g0040 a0003c0004t0016g0005 a0003c0004t0001g0040 a0003c0004t0016g0005	2	186	0.0108	22	c.113 others(43): Show c.1136-16713_1136-16712insAAAAAAAAAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar

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