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
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAGA others(9): Show GAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	376	0.0027	16	c.-11 others(27): Show c.-1192_-1191insAAAGAGAAAGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50871026	A A	AAAGAAAG others(9): Show AAAGAAAGAAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA19085.hp1 NA18951.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0330 a0002c0002t0002g0113 a0002c0002t0002g0330	2	376	0.0053	16	c.-11 others(27): Show c.-1149_-1148insAAGAAAGAAAGGAAGG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1026		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(9): Show ATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp1 HG02809.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0002 a0001c0001t0004 a0001c0003t0002	a0001c0001t0004g0267 a0001c0003t0002g0247 a0001c0001t0004g0267 a0001c0003t0002g0247	2	316	0.0063	16	c.422 others(31): Show c.422+943_422+944insAATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(9): Show ATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	316	0.0032	16	c.422 others(31): Show c.422+943_422+944insAAAAAATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(9): Show ATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0296 a0001c0005t0004g0296	1	316	0.0032	16	c.422 others(31): Show c.422+943_422+944insAAAAAAAAAATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01168.hp1 HG01192.hp1 others(45): Show HG00544.hp1 HG01168.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp2 NA18942.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18964.hp1 NA18972.hp2 NA18978.hp1 NA18985.hp2 NA18994.hp2 NA18997.hp1 NA19009.hp2 NA19011.hp2 NA19057.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0161 others(42): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0236 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0342 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0073 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0337 a0001c0001t0005g0008 a0001c0001t0005g0128 a0001c0001t0005g0136 a0001c0001t0006g0113 a0001c0001t0013g0047 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0026 a0001c0004t0001g0309 a0001c0004t0001g0310 a0001c0005t0002g0030	48	360	0.1333	16	c.590 others(33): Show c.590+9333_590+9348dupTGTGTGTGTGTGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TTTTGTGT others(9): Show TTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	360	0.0028	16	c.590 others(33): Show c.590+9315_590+9316insTTGTGTGTGTGTGTGT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80723138	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01243.hp2 others(15): Show HG01074.hp1 HG01106.hp1 HG01243.hp2 HG01975.hp1 HG02056.hp1 HG02895.hp1 HG03130.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG04115.hp2 NA18941.hp1 NA18948.hp1 NA18966.hp2 NA19057.hp1 NA19067.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010	a0001c0001t0002g0077 a0001c0001t0002g0086 a0001c0001t0002g0093 others(15): Show a0001c0001t0002g0077 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0004g0048 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0001t0004g0091 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0009g0111 a0001c0001t0010g0079 a0001c0001t0010g0080	18	360	0.0500	16	c.591 others(35): Show c.591-26361_591-26346dupGTGTGTGTGTGTGTGT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD17C_chr15_80690310_80760621	80726501	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0302	1	360	0.0028	16	c.591 others(35): Show c.591-22999_591-22984dupTTTTTTTTTTTTTTTT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127706	C C	CATACATA others(9): Show CATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0066 a0001c0001t0016g0066	1	234	0.0043	16	c.194 others(35): Show c.194+11188_194+11189insCATATATATATATATA	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89127706	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03195.hp2 HG01952.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0151 a0001c0001t0008g0011 a0001c0001t0002g0151 a0001c0001t0008g0011	2	234	0.0086	16	c.194 others(35): Show c.194+11198_194+11199insTATATATATATATATA	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89146355	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	234	0.0043	16	c.195 others(33): Show c.195-5293_195-5278dupGTGTGTGTGTGTGTGT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89183384	A A	AAAAAATA others(9): Show AAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	234	0.0043	16	c.723 others(33): Show c.723-2039_723-2038insAAAATATATATATATA	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD2_chr15_89083456_89207355	89205128	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02647.hp1 others(5): Show HG02055.hp1 HG02109.hp1 HG02647.hp1 HG02647.hp2 HG04228.hp2 NA18975.hp1 NA18989.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0095 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0182 a0001c0001t0001g0221	8	234	0.0342	16	c.97 others(27): Show c.9705_*9706insTCTCTCTCTCTCTCTC	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding		2774		chr15	TogoVar
ABHD2_chr15_89083456_89207355	89205168	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	234	0.0043	16	c.97 others(27): Show c.9745_*9746insTCTCTCTCTCTCTCTT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding		2814		chr15	TogoVar
ABHD2_chr15_89083456_89207355	89205179	T T	TCTCTCTC others(9): Show TCTCTCTCTCTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	234	0.0043	16	c.97 others(27): Show c.9756_*9757insCTCTCTCTCTCTCTCC	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding		2825		chr15	TogoVar
ABHD3_chr18_21645901_21709774	21700827	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	304	0.0033	16	c.509 others(33): Show c.509+1473_509+1488dupTTTTTTTTTTTTTTTT	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	3/8			chr18	TogoVar
ABHD5_chr3_43685938_43727725	43700168	G G	GGGGTAGG others(9): Show GGGGTAGGATTCTTATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0033 a0001c0001t0026g0033	1	286	0.0035	16	c.133 others(31): Show c.133+808_133+823dupGGGTAGGATTCTTATA	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD5_chr3_43685938_43727725	43715085	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	286	0.0035	16	c.773 others(29): Show c.773+47_773+62dupGTGTGTGTGTGTGTGT	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58256108	C C	CAGACACA others(9): Show CAGACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02717.hp2 others(4): Show HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG03453.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 others(4): Show a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0003g0255 a0001c0001t0008g0249 a0001c0001t0008g0254 a0001c0001t0013g0253	7	302	0.0232	16	c.-25 others(31): Show c.-25-453_-25-452insGACACACACACACATA	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58271766	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0226 a0001c0001t0005g0226	1	302	0.0033	16	c.523 others(31): Show c.523+711_523+726dupTTTTTTTTTTTTTTTT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286846	G G	GCATATAT others(9): Show GCATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	302	0.0033	16	c.837 others(33): Show c.837+1393_837+1394insCATATATATATATATA	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9			chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GCATATAT others(9): Show GCATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01255.hp1 others(25): Show HG00738.hp1 HG00741.hp2 HG01255.hp1 HG01256.hp1 HG01515.hp1 HG01517.hp1 HG02083.hp1 HG02257.hp1 HG02451.hp2 HG02615.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG06807.hp1 NA18944.hp1 NA18972.hp2 NA18978.hp1 NA18997.hp1 NA19065.hp2 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0056 others(24): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0293 a0001c0001t0013g0253	28	302	0.0927	16	c.837 others(33): Show c.837+1395_837+1396insCATATATATATATATA	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9			chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286848	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00099.hp1 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0162 a0001c0001t0007g0245 a0001c0001t0007g0162 a0001c0001t0007g0245	2	302	0.0066	16	c.837 others(33): Show c.837+1396_837+1397insATATATATATATATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286850	G G	GCATATAT others(9): Show GCATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	2	302	0.0066	16	c.837 others(33): Show c.837+1397_837+1398insCATATATATATATATA	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9			chr3	TogoVar
ABHD6_chr3_58232792_58299734	58286850	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	302	0.0033	16	c.837 others(33): Show c.837+1398_837+1399insATATATATATATATAT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI1_chr10_26741596_26865958	26761617	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19083.hp2 NA19004.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0201 a0001c0001t0002g0204	2	358	0.0056	16	c.821 others(33): Show c.821-2395_821-2380dupATATATATATATATAT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	7/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26761661	T T	TATATATA others(9): Show TATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	358	0.0028	16	c.821 others(33): Show c.821-2424_821-2423insGTGTGTGTATATATAT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	7/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26761661	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG00099.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0037 a0001c0001t0001g0040	2	358	0.0056	16	c.821 others(33): Show c.821-2424_821-2423insGTGTGTATATATATAT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	7/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	358	0.0028	16	c.463 others(33): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26816986	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02965.hp2 others(5): Show HG02109.hp1 HG02559.hp2 HG02965.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 NA18952.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0277 a0001c0001t0003g0278 others(5): Show a0001c0001t0003g0011 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0305	8	358	0.0224	16	c.285 others(33): Show c.285+6136_285+6151dupCACACACACACACACA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26833769	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	358	0.0028	16	c.118 others(35): Show c.118-10480_118-10465dupGTGTGTGTGTGTGTGT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203338945	T T	TATATATA others(9): Show TATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	320	0.0031	16	c.117 others(35): Show c.117+10329_117+10330insAATATATATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203370186	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG03942.hp1 HG01257.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0102 a0001c0001t0005g0161 a0001c0001t0005g0102 a0001c0001t0005g0161	2	320	0.0063	16	c.285 others(33): Show c.285+3168_285+3183dupCTCTCTCTCTCTCTCT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203385139	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19087.hp2 HG02976.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0100 a0001c0002t0005g0116 a0001c0001t0005g0100 a0001c0002t0005g0116	2	320	0.0063	16	c.480 others(33): Show c.480+2946_480+2947insTTTTTTTTTTTTTTTT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203395448	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	320	0.0031	16	c.726 others(31): Show c.726-207_726-206insTACACACACACACACA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203395448	T T	TATATACA others(9): Show TATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp1 HG03710.hp2 others(2): Show HG00642.hp2 HG01433.hp1 HG03710.hp2 NA18952.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0030 a0001c0001t0002 a0001c0001t0003 a0001c0001t0030	a0001c0001t0002g0187 a0001c0001t0003g0189 a0001c0001t0003g0220 others(2): Show a0001c0001t0002g0187 a0001c0001t0003g0189 a0001c0001t0003g0220 a0001c0001t0003g0281 a0001c0001t0030g0240	5	320	0.0156	16	c.726 others(31): Show c.726-207_726-206insTATACACACACACACA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203395448	T T	TATATATA others(9): Show TATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	320	0.0031	16	c.726 others(31): Show c.726-207_726-206insTATATATACACACACA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203395448	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	320	0.0031	16	c.726 others(31): Show c.726-207_726-206insTATATATATACACACA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203395448	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	320	0.0031	16	c.726 others(31): Show c.726-207_726-206insTATATATATATATACA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203434040	A A	ATATATAT others(9): Show ATATATATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG03130.hp1 NA18960.hp2 others(4): Show HG02523.hp1 HG03130.hp1 NA18960.hp2 NA18968.hp1 NA18969.hp1 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015	a0001c0001t0002g0069 a0001c0001t0004g0125 a0001c0001t0004g0128 others(4): Show a0001c0001t0002g0069 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0012g0123 a0001c0001t0012g0131 a0001c0001t0012g0132 a0001c0001t0015g0120	7	320	0.0219	16	c.66 others(27): Show c.6688_*6689insTATATATCTATCTATC	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding		1872		chr2	TogoVar
ABI2_chr2_203323394_203437169	203434040	A A	ATATCTAT others(9): Show ATATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0130 a0001c0001t0004g0130	1	320	0.0031	16	c.66 others(27): Show c.6688_*6689insTATCTATCTATCTATC	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding		1872		chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100869330	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 NA18941.hp1 others(2): Show HG02647.hp1 HG02922.hp2 NA18941.hp1 NA18962.hp1 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0007c0029	a0001c0001t0005 a0001c0001t0008 a0001c0004t0009 others(2): Show a0001c0001t0005 a0001c0001t0008 a0001c0004t0009 a0001c0005t0004 a0007c0029t0034	a0001c0001t0005g0078 a0001c0001t0008g0196 a0001c0004t0009g0191 others(2): Show a0001c0001t0005g0078 a0001c0001t0008g0196 a0001c0004t0009g0191 a0001c0005t0004g0195 a0007c0029t0034g0015	5	238	0.0210	16	c.911 others(33): Show c.911-2390_911-2375dupAAAAAAAAAAAAAAAA	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	9/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100894938	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02572.hp2 HG02071.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0018 a0001c0004t0005 a0001c0001t0018 a0001c0004t0005	a0001c0001t0018g0047 a0001c0004t0005g0017 a0001c0001t0018g0047 a0001c0004t0005g0017	2	238	0.0084	16	c.461 others(33): Show c.461+3808_461+3823dupTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100940829	T T	TATATATA others(9): Show TATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG00738.hp2 others(19): Show HG00544.hp1 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01167.hp1 HG01167.hp2 HG01515.hp2 HG02027.hp2 HG02071.hp2 HG02132.hp1 HG02280.hp2 HG02647.hp1 HG02683.hp1 HG02922.hp2 HG03239.hp1 HG03540.hp1 NA18612.hp2 NA18953.hp2 NA18962.hp1 NA19062.hp2 NA19082.hp2 NA19086.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0004 a0001c0009 others(7): Show a0001c0001 a0001c0004 a0001c0009 a0001c0013 a0002c0002 a0002c0006 a0002c0019 a0003c0003 a0005c0011 a0011c0021	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(15): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0040 a0001c0004t0009 a0001c0009t0001 a0001c0013t0005 a0002c0002t0002 a0002c0002t0006 a0002c0002t0014 a0002c0006t0001 a0002c0019t0005 a0003c0003t0003 a0005c0011t0007 a0011c0021t0005	a0001c0001t0002g0066 a0001c0001t0005g0077 a0001c0001t0005g0078 others(19): Show a0001c0001t0002g0066 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0006g0170 a0001c0001t0008g0196 a0001c0001t0008g0233 a0001c0001t0009g0219 a0001c0001t0018g0047 a0001c0001t0040g0221 a0001c0004t0009g0191 a0001c0009t0001g0136 a0001c0013t0005g0114 a0001c0013t0005g0118 a0002c0002t0002g0061 a0002c0002t0006g0183 a0002c0002t0014g0178 a0002c0006t0001g0100 a0002c0006t0001g0163 a0002c0019t0005g0129 a0003c0003t0003g0092 a0005c0011t0007g0157 a0011c0021t0005g0115	22	238	0.0924	16	c.80- others(33): Show c.80-14349_80-14348insCTATATATATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	1/67			chr3	TogoVar
ABL2_chr1_179094330_179234677	179130726	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0225 a0001c0001t0035g0225	1	350	0.0029	16	c.391 others(31): Show c.391+569_391+584dupCACACACACACACACA	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	3/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179136709	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG02040.hp2 others(3): Show HG00408.hp1 HG00673.hp2 HG02040.hp2 HG02132.hp1 NA18747.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0033 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0033 a0001c0001t0074 a0001c0001t0114	a0001c0001t0005g0319 a0001c0001t0006g0075 a0001c0001t0006g0084 others(3): Show a0001c0001t0005g0319 a0001c0001t0006g0075 a0001c0001t0006g0084 a0001c0001t0033g0070 a0001c0001t0074g0123 a0001c0001t0114g0350	6	350	0.0171	16	c.158 others(33): Show c.158-3351_158-3336dupATTTATTTATTTATTT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179136741	T T	TAAATAAA others(9): Show TAAATAAATAAATAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0053	a0001c0003t0053g0002 a0001c0003t0053g0002	1	350	0.0029	16	c.158 others(33): Show c.158-3368_158-3367insTTTTATTTATTTATTT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179178401	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00733.hp2 others(18): Show HG00140.hp1 HG00639.hp1 HG00733.hp2 HG01069.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG02572.hp1 HG02717.hp1 HG02738.hp2 HG02965.hp2 HG03130.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18975.hp2 NA19064.hp2 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0042 a0001c0002t0010 a0001c0002t0017 a0001c0002t0044 a0005c0010t0006	a0001c0001t0003g0047 a0001c0001t0006g0092 a0001c0001t0008g0282 others(18): Show a0001c0001t0003g0047 a0001c0001t0006g0092 a0001c0001t0008g0282 a0001c0001t0008g0287 a0001c0001t0008g0290 a0001c0001t0008g0291 a0001c0001t0008g0295 a0001c0001t0008g0298 a0001c0001t0008g0299 a0001c0001t0009g0280 a0001c0001t0009g0281 a0001c0001t0009g0286 a0001c0001t0009g0292 a0001c0001t0042g0252 a0001c0002t0010g0258 a0001c0002t0010g0266 a0001c0002t0010g0267 a0001c0002t0017g0269 a0001c0002t0017g0273 a0001c0002t0044g0264 a0005c0010t0006g0055	21	350	0.0600	16	c.158 others(35): Show c.158-45043_158-45028dupTTTTTTTTTTTTTTTT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179214519	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02071.hp1 HG03490.hp2 others(2): Show HG01106.hp2 HG02071.hp1 HG03490.hp2 HG03492.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0001t0019 a0001c0001t0026 others(1): Show a0001c0001t0012 a0001c0001t0019 a0001c0001t0026 a0001c0003t0029	a0001c0001t0012g0039 a0001c0001t0019g0091 a0001c0001t0026g0041 others(2): Show a0001c0001t0012g0039 a0001c0001t0019g0091 a0001c0001t0026g0041 a0001c0001t0026g0044 a0001c0003t0029g0018	5	350	0.0143	16	c.157 others(35): Show c.157+14706_157+14721dupATATATATATATATAT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar

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