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
AP1S3_chr2_223750326_223842582	223832135	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0227 a0001c0001t0045g0227	1	340	0.0029	22	c.3+5 others(35): Show c.3+5291_3+5312dupCACACACACACACACACACACA	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02280.hp2 HG02056.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0008 a0001c0003t0006 a0001c0003t0008	a0001c0003t0006g0266 a0001c0003t0008g0185 a0001c0003t0006g0266 a0001c0003t0008g0185	2	268	0.0075	22	c.67+ others(37): Show c.67+9516_67+9537dupTTTTTTTTTTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2A2_chr11_920870_1017240	998306	T T	TCCCCATT others(15): Show TCCCCATTCTGACTCTCACCCGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0256 a0001c0003t0004g0256	1	268	0.0037	22	c.195 others(41): Show c.1957-2113_1957-2092dupTCTCACCCGCCCCCATTCTGAC	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35720545	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0369 a0001c0001t0002g0369	1	372	0.0027	22	c.278 others(41): Show c.2782-3072_2782-3051dupATATATATATATATATATATAT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	226	0.0044	22	c.787 others(41): Show c.787-12109_787-12108insAAAAAAAAAAAATATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78279907	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0185 a0001c0004t0002g0185	1	226	0.0044	22	c.129 others(41): Show c.129-12334_129-12313dupATATATATATATATATATATAT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02129.hp2 HG02148.hp2 others(9): Show HG02056.hp1 HG02129.hp2 HG02148.hp2 HG02300.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18979.hp2 NA19000.hp2 NA19005.hp2 NA19054.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 others(9): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0003g0013 a0001c0001t0003g0017 a0001c0001t0007g0043	12	368	0.0326	22	c.113 others(39): Show c.113+9196_113+9197insAAAAAAAAAAAAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0359 a0001c0001t0004g0359	1	392	0.0026	22	c.185 others(41): Show c.1851+4101_1851+4122dupAAAAAAAAAAAAAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp2 HG02698.hp2 HG01074.hp1 HG01891.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0022 a0002c0002t0002 a0002c0003t0022	a0002c0002t0002g0050 a0002c0002t0002g0056 a0002c0003t0022g0007 a0002c0002t0002g0050 a0002c0002t0002g0056 a0002c0003t0022g0007	3	392	0.0077	22	c.185 others(41): Show c.1852-3292_1852-3271dupACACACACACACACACACACAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	346	0.0029	22	c.-71 others(41): Show c.-71-16697_-71-16696insAAAAAAAATATATATATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01255.hp2 HG00099.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0044 a0001c0001t0003 a0001c0001t0044	a0001c0001t0003g0152 a0001c0001t0044g0131 a0001c0001t0003g0152 a0001c0001t0044g0131	2	346	0.0058	22	c.-71 others(41): Show c.-71-16697_-71-16696insAAAAAATATATATATATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049474	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18947.hp2 NA19057.hp1 HG01346.hp2 NA18947.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0311 a0001c0001t0001g0332 a0001c0001t0001g0333	3	346	0.0087	22	c.-71 others(41): Show c.-71-16638_-71-16617dupCACACACACACACACACACACA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0008 a0001c0001t0019g0008	1	346	0.0029	22	c.306 others(39): Show c.306+2917_306+2938dupTTTTTTTTTTTTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57275422	A A	AGAGAGAG others(15): Show AGAGAGAGAGAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0086 a0001c0001t0019g0086	1	280	0.0036	22	c.720 others(37): Show c.720+534_720+555dupGAGAGAGAGAGAGAGAAGAGAG	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG01884.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0057 a0001c0001t0006 a0001c0001t0057	a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0057g0018 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0057g0018	4	412	0.0097	22	c.73 others(33): Show c.7382_*7383insTATATATATATATTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0015 a0001c0001t0019g0025 a0001c0001t0019g0015 a0001c0001t0019g0025	2	412	0.0049	22	c.73 others(33): Show c.7382_*7383insTATATATATATTTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
AP5Z1_chr7_4770623_4799397	4791074	G G	GGGGAGCA others(15): Show GGGGAGCATCTGCAGCTGACGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0090 a0001c0005t0009g0090	1	340	0.0029	22	c.215 others(37): Show c.2154-36_2154-15dupGCATCTGCAGCTGACGGAGGGA	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
APAF1_chr12_98640290_98740433	98643812	G G	GTTTTCTT others(15): Show GTTTTCTTTTTTTTTTTTTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG02258.hp2 others(6): Show HG00438.hp1 HG00621.hp2 HG02258.hp2 HG02572.hp1 HG02818.hp1 HG03579.hp2 NA18948.hp1 NA18949.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0002 a0001c0001t0021 a0001c0004t0007 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0004t0007 a0003c0005t0007	a0001c0001t0002g0333 a0001c0001t0002g0339 a0001c0001t0002g0346 others(6): Show a0001c0001t0002g0333 a0001c0001t0002g0339 a0001c0001t0002g0346 a0001c0001t0002g0349 a0001c0001t0021g0350 a0001c0004t0007g0225 a0001c0004t0007g0226 a0003c0005t0007g0219 a0003c0005t0007g0220	9	366	0.0246	22	c.-20 others(33): Show c.-2065_-2064insTTTTCTTTTTTTTTTTTTTTCC	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding		1477		chr12	TogoVar
APAF1_chr12_98640290_98740433	98653687	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03704.hp1 HG02056.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0093 a0001c0001t0001g0023 a0001c0001t0001g0093	2	366	0.0055	22	c.526 others(39): Show c.526+4004_526+4005insTATATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02683.hp1 HG00738.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0077 a0001c0001t0001g0102	2	366	0.0055	22	c.526 others(39): Show c.526+4006_526+4007insTATATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0029 a0001c0010t0001g0029	1	366	0.0027	22	c.526 others(39): Show c.526+4008_526+4009insAAAATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	366	0.0027	22	c.526 others(39): Show c.526+4019_526+4040dupTATATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98665255	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02523.hp2 NA19240.hp1 HG02451.hp1 HG02523.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0170 a0001c0001t0015g0127 a0001c0001t0015g0128 a0001c0001t0003g0170 a0001c0001t0015g0127 a0001c0001t0015g0128	3	366	0.0082	22	c.956 others(37): Show c.956-295_956-274dupATATATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98707692	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02273.hp1 HG03239.hp2 others(2): Show HG00621.hp2 HG02273.hp1 HG03239.hp2 NA18949.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0001c0001t0002 a0001c0001t0006 a0001c0001t0021	a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0349 others(2): Show a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0349 a0001c0001t0006g0163 a0001c0001t0021g0350	5	366	0.0137	22	c.272 others(39): Show c.2722-873_2722-872insTATATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98715235	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	366	0.0027	22	c.295 others(39): Show c.2959-167_2959-146dupATATATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98715281	T T	TATATATA others(15): Show TATATATATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	366	0.0027	22	c.295 others(39): Show c.2959-146_2959-145insATATATATATATATATATATGA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26			chr12	TogoVar
APBA1_chr9_69422532_69677371	69523499	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19030.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0087 a0001c0001t0002g0091	2	210	0.0095	22	c.-69 others(39): Show c.-69-6221_-69-6220insCATATATATATATATATATATA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69636828	A A	AGGGAGGG others(15): Show AGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03654.hp2 HG03710.hp2 others(1): Show HG03491.hp2 HG03654.hp2 HG03710.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0044 others(1): Show a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0044 a0001c0001t0002g0105	4	210	0.0191	22	c.-70 others(41): Show c.-70+35324_-70+35325insCCTCCCTCCCTCCCTCCCTCCC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658260	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	210	0.0048	22	c.-70 others(41): Show c.-70+13871_-70+13892dupAAGAAAGAAAGAAAGAAAGAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658304	C C	CTCTCTCT others(15): Show CTCTCTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0205 a0002c0002t0017g0205	1	210	0.0048	22	c.-70 others(41): Show c.-70+13848_-70+13849insAAGAAAGAAAGAAAGAGAGAGA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658304	C C	CTCTCTTT others(15): Show CTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	210	0.0048	22	c.-70 others(41): Show c.-70+13848_-70+13849insAAGAAAGAAAGAAAGAAAGAGA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658316	T T	TTCTCTCT others(15): Show TTCTCTCTCTTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	210	0.0048	22	c.-70 others(41): Show c.-70+13836_-70+13837insGAGAGAGAGAGAAAGAGAGAGA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	28901908	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01081.hp1 others(7): Show HG00639.hp2 HG00738.hp2 HG01081.hp1 HG01261.hp2 HG02145.hp1 HG03225.hp1 HG03669.hp2 HG03688.hp2 NA18906.hp2 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 a0002c0002t0006 a0002c0002t0020 a0002c0003t0018	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0117 a0001c0001t0002g0148 a0001c0001t0002g0197 a0001c0001t0033g0152 a0002c0002t0006g0003 a0002c0002t0020g0133 a0002c0003t0018g0146	10	204	0.0490	22	c.-20 others(43): Show c.-205+15642_-205+15663dupGTGTGTGTGTGTGTGTGTGTGT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28987725	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02074.hp2 HG03491.hp1 others(8): Show HG01261.hp1 HG02074.hp2 HG03491.hp1 HG04184.hp1 HG04204.hp1 NA18944.hp2 NA18950.hp1 NA18953.hp2 NA18970.hp2 NA18986.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007	a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0002g0151 others(8): Show a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0002g0151 a0001c0001t0002g0158 a0001c0001t0007g0156 a0001c0001t0007g0162 a0002c0002t0001g0050 a0002c0002t0002g0095 a0002c0002t0002g0129 a0002c0002t0004g0025 a0002c0002t0007g0140	11	204	0.0539	22	c.-94 others(39): Show c.-94-8027_-94-8026insTATATATATATATATATATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29045068	C C	CTTCTCTC others(15): Show CTTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA20300.hp2 HG02818.hp2 NA20300.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0010 a0002c0003 a0005c0010	a0002c0003t0006 a0005c0010t0037 a0002c0003t0006 a0005c0010t0037	a0002c0003t0006g0189 a0005c0010t0037g0175 a0002c0003t0006g0189 a0005c0010t0037g0175	2	204	0.0098	22	c.-40 others(39): Show c.-40-8776_-40-8755dupTTCTCTCTCTCTCTCTCTCTCT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29045103	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02486.hp2 NA18954.hp2 others(1): Show HG02165.hp1 HG02486.hp2 NA18954.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0004 a0002c0002t0003 a0002c0002t0006 others(1): Show a0001c0001t0004 a0002c0002t0003 a0002c0002t0006 a0003c0008t0003	a0001c0001t0004g0017 a0002c0002t0003g0193 a0002c0002t0006g0161 others(1): Show a0001c0001t0004g0017 a0002c0002t0003g0193 a0002c0002t0006g0161 a0003c0008t0003g0126	4	204	0.0196	22	c.-40 others(39): Show c.-40-8742_-40-8741insTCTCTCTCTCTCTCTCTCTCTT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14			chr15	TogoVar
APBA2_chr15_28880974_29123315	29045103	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02922.hp2 others(2): Show HG02257.hp2 HG02572.hp2 HG02922.hp2 HG03540.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0013 a0002c0002 a0001c0009 a0001c0013 a0002c0002	a0001c0009t0014 a0001c0013t0009 a0002c0002t0001 others(2): Show a0001c0009t0014 a0001c0013t0009 a0002c0002t0001 a0002c0002t0006 a0002c0002t0015	a0001c0009t0014g0070 a0001c0013t0009g0127 a0002c0002t0001g0076 others(2): Show a0001c0009t0014g0070 a0001c0013t0009g0127 a0002c0002t0001g0076 a0002c0002t0006g0185 a0002c0002t0015g0084	5	204	0.0245	22	c.-40 others(39): Show c.-40-8742_-40-8741insTCTCTCTCTCTCTCTCTTTCTT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14			chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02109.hp1 HG02615.hp2 others(6): Show HG00642.hp1 HG02109.hp1 HG02615.hp2 HG02886.hp2 HG02897.hp2 HG03098.hp2 HG03130.hp1 NA18906.hp2 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0005c0004t0002 a0001c0001t0001 a0001c0001t0002 a0005c0004t0002	a0001c0001t0001g0006 a0001c0001t0001g0103 a0001c0001t0001g0125 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0103 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0002g0345 a0001c0001t0002g0350 a0005c0004t0002g0301	9	358	0.0251	22	c.813 others(39): Show c.813+2901_813+2902insAAAAAAAAAAAAAAAAAAAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTCTTT others(15): Show CTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01258.hp1 others(2): Show HG01168.hp1 HG01169.hp1 HG01258.hp1 HG02258.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0001g0171 a0001c0001t0002g0250 others(2): Show a0001c0001t0001g0109 a0001c0001t0001g0171 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0271	5	358	0.0140	22	c.814 others(39): Show c.814-8481_814-8480insCTTTTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01071.hp2 others(12): Show HG00738.hp2 HG00741.hp2 HG01071.hp2 HG02015.hp1 HG02293.hp2 HG02735.hp2 HG03017.hp2 HG03486.hp1 NA18948.hp2 NA18969.hp1 NA18973.hp2 NA18994.hp1 NA19009.hp1 NA19009.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0086 a0001c0001t0001g0143 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0086 a0001c0001t0001g0143 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0245 a0001c0001t0002g0254 a0001c0001t0002g0276 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0315 a0001c0001t0002g0322	15	358	0.0419	22	c.814 others(39): Show c.814-8465_814-8464insTTTTTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1_chr11_6390125_6424094	6421867	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0325 a0001c0002t0001g0325	1	416	0.0024	22	c.-28 others(33): Show c.-2898_-2897insAAAAAAAAAAAAAAAAAAAAAA	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding		2774		chr11	TogoVar
APBB2_chr4_40805027_41219542	40946254	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0147 a0002c0001t0003g0147	1	192	0.0052	22	c.836 others(39): Show c.836-1182_836-1181insGTTTTTTTTTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40964753	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01993.hp2 HG02698.hp1 HG00733.hp1 HG01993.hp2 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0019 a0001c0003t0001 a0001c0004t0013 a0001c0002t0019 a0001c0003t0001 a0001c0004t0013	a0001c0002t0019g0178 a0001c0003t0001g0042 a0001c0004t0013g0022 a0001c0002t0019g0178 a0001c0003t0001g0042 a0001c0004t0013g0022	3	192	0.0156	22	c.836 others(41): Show c.836-19702_836-19681dupGTGTGTGTGTGTGTGTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41000105	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0170 a0001c0002t0004g0170	1	192	0.0052	22	c.835 others(41): Show c.835+13477_835+13478insTACACACACACACACACACACA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(15): Show CCGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp1 HG06807.hp1 others(3): Show HG01891.hp1 HG03209.hp1 HG06807.hp1 NA19043.hp1 NA20300.hp2 NA20752.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0010 a0002c0002 a0004c0010	a0002c0002t0002 a0002c0002t0049 a0004c0010t0004 a0002c0002t0002 a0002c0002t0049 a0004c0010t0004	a0002c0002t0002g0067 a0002c0002t0002g0266 a0002c0002t0049g0182 others(2): Show a0002c0002t0002g0067 a0002c0002t0002g0266 a0002c0002t0049g0182 a0004c0010t0004g0021 a0004c0010t0004g0278	6	350	0.0171	22	c.120 others(37): Show c.1208-70_1208-69insCGGGGGGGGGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APEH_chr3_49669351_49688971	49673087	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA19005.hp2 HG06807.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0002g0019 a0001c0001t0001g0025 a0001c0001t0002g0019	2	318	0.0063	22	c.-13 others(33): Show c.-1315_-1314insTTTTTTTTTTTTTTTTTTTTTT	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		1263		chr3	TogoVar
APELA_chr4_164872178_164902527	164884121	G G	GAAACAAA others(15): Show GAAACAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0203 a0001c0003t0017g0203	1	434	0.0023	22	c.1+ others(37): Show c.1+5113_*1+5114insAACAAAGAAAGAAAGAAAGAAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APELA_chr4_164872178_164902527	164884121	G G	GAAAGAAA others(15): Show GAAAGAAAGAAACAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0201 a0001c0003t0017g0201	1	434	0.0023	22	c.1+ others(37): Show c.1+5113_*1+5114insAAGAAAGAAACAAAGAAAGAAA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APOA1_chr11_116830751_116842622	116842618	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG02559.hp1 HG02622.hp2 others(15): Show HG01258.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG03453.hp1 HG03486.hp2 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18952.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18998.hp1 NA19000.hp2 NA19012.hp2 NA19043.hp2 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0002c0002t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0007 a0002c0002t0001g0006	18	448	0.0402	22	c.-50 others(33): Show c.-5035_-5034insAAAAAAAAAAAAAAAAAAAAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4997		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818212	A A	AATATATG others(15): Show AATATATGAATATCTATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02723.hp1 HG04115.hp2 HG00733.hp1 HG02723.hp1 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	3	462	0.0065	22	c.26 others(33): Show c.2654_*2655insATTCATATAGATATTCATATAT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2487		chr11	TogoVar

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