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
APBA1_chr9_69422532_69677371	69502131	G G	GAGGGTTA others(4): Show GAGGGTTAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02922.hp1 others(6): Show HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03579.hp1 NA19043.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0024 others(6): Show a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0024 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0115 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0198	9	210	0.0429	11	c.120 others(32): Show c.1200+13869_1200+13879dupTTTTTAACCCT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	29052454	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03209.hp1 NA19240.hp2 HG02083.hp2 HG03209.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0042 a0002c0002t0006 a0001c0001t0042 a0002c0002t0006	a0001c0001t0042g0097 a0002c0002t0006g0118 a0002c0002t0006g0124 a0001c0001t0042g0097 a0002c0002t0006g0118 a0002c0002t0006g0124	3	204	0.0147	11	c.-40 others(28): Show c.-40-1387_-40-1377dupAAAAAAAAAAA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA3_chr19_3745772_3766692	3755559	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0098 a0009c0016t0002g0098	1	450	0.0022	11	c.617 others(28): Show c.617-1230_617-1220dupCCCCCCCCCCC	APBA3	ENSG00000011132.12	transcript	ENST00000316757.4	protein_coding	3/10			chr19	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	358	0.0028	11	c.813 others(28): Show c.813+2891_813+2901dupAAAAAAAAAAA	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(4): Show CTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	358	0.0028	11	c.814 others(28): Show c.814-8481_814-8480insCTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524974	T T	TTTTTTTT others(4): Show TTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18990.hp1 NA19060.hp1 others(3): Show HG02572.hp2 NA18990.hp1 NA19060.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0104 a0001c0001t0001g0204 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0104 a0001c0001t0001g0204 a0001c0001t0001g0242 a0001c0001t0002g0261 a0001c0001t0002g0331	6	358	0.0168	11	c.814 others(28): Show c.814-8465_814-8464insTTTTTTTTTTA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14			chr10	TogoVar
APBB1_chr11_6390125_6424094	6421867	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	416	0.0024	11	c.-28 others(22): Show c.-2898_-2897insAAAAAAAAAAA	APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding		2774		chr11	TogoVar
APBB2_chr4_40805027_41219542	40845588	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01516.hp1 HG03139.hp2 others(3): Show HG00735.hp1 HG01516.hp1 HG03139.hp2 HG03579.hp2 HG03704.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0002c0005 others(1): Show a0001c0002 a0002c0001 a0002c0005 a0004c0007	a0001c0002t0007 a0001c0002t0034 a0002c0001t0007 others(3): Show a0001c0002t0007 a0001c0002t0034 a0002c0001t0007 a0002c0001t0009 a0002c0005t0041 a0004c0007t0007	a0001c0002t0007g0171 a0001c0002t0034g0004 a0002c0001t0007g0177 others(3): Show a0001c0002t0007g0171 a0001c0002t0034g0004 a0002c0001t0007g0177 a0002c0001t0009g0186 a0002c0005t0041g0124 a0004c0007t0007g0056	6	192	0.0313	11	c.153 others(32): Show c.1530-15022_1530-15012dupTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40946254	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp2 HG02809.hp2 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0035 a0002c0005t0001 a0001c0003t0035 a0002c0005t0001	a0001c0003t0035g0026 a0002c0005t0001g0100 a0001c0003t0035g0026 a0002c0005t0001g0100	2	192	0.0104	11	c.836 others(28): Show c.836-1182_836-1181insGTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40948890	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 NA18906.hp2 HG02818.hp2 HG03209.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0035 a0002c0001t0016 a0002c0001t0060 a0001c0003t0035 a0002c0001t0016 a0002c0001t0060	a0001c0003t0035g0026 a0002c0001t0016g0088 a0002c0001t0060g0158 a0001c0003t0035g0026 a0002c0001t0016g0088 a0002c0001t0060g0158	3	192	0.0156	11	c.836 others(28): Show c.836-3828_836-3818dupTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40975751	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0111 a0001c0004t0003g0111	1	192	0.0052	11	c.836 others(30): Show c.836-30679_836-30678insGTGTGTGTGTG	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982323	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0176 a0002c0005t0008g0176	1	192	0.0052	11	c.835 others(30): Show c.835+31259_835+31260insCTTTCTTTCTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982387	G G	GAAGGGAA others(4): Show GAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0016	a0002c0001t0016g0154 a0002c0001t0016g0154	1	192	0.0052	11	c.835 others(30): Show c.835+31195_835+31196insTCCTTTCCCTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982400	G G	GAAAGAAA others(4): Show GAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0148 a0002c0001t0001g0148	1	192	0.0052	11	c.835 others(30): Show c.835+31182_835+31183insTTTCTTTCTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982404	A A	AGGAAAGG others(4): Show AGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02723.hp2 HG01099.hp2 HG02723.hp2	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0036 a0002c0005t0001 a0002c0001t0036 a0002c0005t0001	a0002c0001t0036g0113 a0002c0005t0001g0149 a0002c0001t0036g0113 a0002c0005t0001g0149	2	192	0.0104	11	c.835 others(30): Show c.835+31178_835+31179insCTTTCCTTTCC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40991010	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00558.hp1 others(33): Show HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00597.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02004.hp1 HG02165.hp2 HG02630.hp2 HG02698.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG04204.hp1 NA18747.hp1 NA18944.hp1 NA18951.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19065.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0005 a0001c0002 a0001c0003 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(15): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0018 a0001c0002t0019 a0001c0002t0021 a0001c0002t0022 a0001c0002t0034 a0001c0002t0038 a0001c0002t0048 a0001c0002t0049 a0001c0003t0002 a0002c0005t0005	a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0099 others(33): Show a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0099 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0002t0002g0061 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0098 a0001c0002t0002g0175 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0174 a0001c0002t0003g0183 a0001c0002t0004g0108 a0001c0002t0004g0170 a0001c0002t0006g0058 a0001c0002t0007g0171 a0001c0002t0007g0172 a0001c0002t0010g0006 a0001c0002t0017g0094 a0001c0002t0017g0095 a0001c0002t0018g0003 a0001c0002t0018g0005 a0001c0002t0019g0178 a0001c0002t0021g0083 a0001c0002t0022g0031 a0001c0002t0034g0004 a0001c0002t0038g0051 a0001c0002t0048g0067 a0001c0002t0049g0097 a0001c0003t0002g0096 a0002c0005t0005g0076	36	192	0.1875	11	c.835 others(30): Show c.835+22572_835+22573insAAAAAAAAAAA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41216419	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	192	0.0052	11	c.-24 others(22): Show c.-2442_-2432dupCCCCCCCCCCC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding		1878		chr4	TogoVar
APBB3_chr5_140553268_140569598	140569260	C C	CTACATTC others(4): Show CTACATTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	412	0.0024	11	c.-50 others(22): Show c.-5016_-5015insCAGGGAATGTA	APBB3	ENSG00000113108.20	transcript	ENST00000357560.9	protein_coding		4663		chr5	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(4): Show CCGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	350	0.0029	11	c.120 others(26): Show c.1208-70_1208-69insCGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00673.hp1 others(30): Show HG00140.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01175.hp1 HG01255.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02273.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18939.hp2 NA18946.hp2 NA18963.hp2 NA18966.hp2 NA18979.hp1 NA18979.hp2 NA18998.hp2 NA19009.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0016 a0001c0041 a0001c0053 a0001c0059 a0003c0006	a0001c0001t0001 a0001c0001t0017 a0001c0001t0037 others(7): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0037 a0001c0003t0001 a0001c0008t0001 a0001c0016t0001 a0001c0041t0001 a0001c0053t0001 a0001c0059t0001 a0003c0006t0011	a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0040 others(30): Show a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0178 a0001c0001t0017g0120 a0001c0001t0037g0269 a0001c0003t0001g0123 a0001c0008t0001g0129 a0001c0016t0001g0015 a0001c0016t0001g0117 a0001c0041t0001g0130 a0001c0053t0001g0220 a0001c0059t0001g0132 a0003c0006t0011g0133	33	350	0.0943	11	c.120 others(26): Show c.1208-67_1208-66insGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
APCDD1L_chr20_58454101_58520399	58456235	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01516.hp2 HG04199.hp2 others(1): Show HG01433.hp1 HG01516.hp2 HG04199.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0304 a0002c0002t0001g0270 a0002c0002t0001g0300 others(1): Show a0001c0001t0001g0304 a0002c0002t0001g0270 a0002c0002t0001g0300 a0002c0002t0002g0318	4	376	0.0106	11	c.45 others(22): Show c.4554_*4555insAAAAAAAAAAA	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding		2865		chr20	TogoVar
APCDD1_chr18_10449635_10494949	10464317	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0243 a0001c0001t0004g0243	1	422	0.0024	11	c.59- others(26): Show c.59-4151_59-4141dupACACACACACA	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
APCS_chr1_159582826_159593865	159590154	A A	AATTTATC others(4): Show AATTTATCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	11	c.14 others(22): Show c.1446_*1447insATTTATCCAAT	APCS	ENSG00000132703.4	transcript	ENST00000255040.3	protein_coding		1290		chr1	TogoVar
APC_chr5_112732885_112851239	112836165	T T	TCCCCCCC others(4): Show TCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0188 a0001c0002t0004g0188	1	294	0.0034	11	c.195 others(30): Show c.1958+1004_1958+1014dupCCCCCCCCCCC	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
APC_chr5_112732885_112851239	112836165	T T	TTCCCCCC others(4): Show TTCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18747.hp2 HG02523.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0211 a0001c0016t0001g0242 a0001c0001t0001g0211 a0001c0016t0001g0242	2	294	0.0068	11	c.195 others(30): Show c.1958+1000_1958+1001insTCCCCCCCCCC	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	15/15			chr5	TogoVar
APEH_chr3_49669351_49688971	49673087	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00735.hp2 others(51): Show HG00099.hp2 HG00140.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02258.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02818.hp2 HG03225.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04204.hp1 NA18940.hp1 NA18944.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18962.hp2 NA18984.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19088.hp2 NA19089.hp1 NA20752.hp2 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0004c0006 others(1): Show a0001c0001 a0001c0002 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0002t0001 a0004c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0004c0006t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0002t0001g0006 a0001c0002t0001g0039 a0004c0006t0001g0001 a0005c0008t0001g0001	54	318	0.1698	11	c.-13 others(22): Show c.-1315_-1314insTTTTTTTTTTT	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		1263		chr3	TogoVar
APELA_chr4_164872178_164902527	164884792	T T	TAAAATCA others(4): Show TAAAATCAGTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	434	0.0023	11	c.1+ others(26): Show c.1+5785_*1+5795dupAAATCAGTCCA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APELA_chr4_164872178_164902527	164899689	A A	AAGGAAAG others(4): Show AAGGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0105 a0001c0001t0009g0105	1	434	0.0023	11	c.42 others(22): Show c.4275_*4276insAGGAAAGAAAG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		2163		chr4	TogoVar
APELA_chr4_164872178_164902527	164899706	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02486.hp2 others(3): Show HG01884.hp2 HG02486.hp1 HG02486.hp2 HG02976.hp2 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0002t0005 a0001c0001t0004 a0001c0002t0004 a0001c0002t0005	a0001c0001t0004g0077 a0001c0001t0004g0287 a0001c0002t0004g0188 others(3): Show a0001c0001t0004g0077 a0001c0001t0004g0287 a0001c0002t0004g0188 a0001c0002t0004g0208 a0001c0002t0005g0214 a0001c0002t0005g0235	6	434	0.0138	11	c.42 others(22): Show c.4292_*4293insAAGAAAGAAAG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		2180		chr4	TogoVar
API5_chr11_43306996_43349529	43311081	A A	ATATTAAT others(4): Show ATATTAATAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	384	0.0026	11	c.-10 others(22): Show c.-1047_-1046insTATTAATAATG	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		914		chr11	TogoVar
APLF_chr2_68462585_68585162	68469014	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0007 a0012c0012t0007	a0012c0012t0007g0027 a0012c0012t0007g0027	1	176	0.0057	11	c.96+ others(26): Show c.96+1194_96+1195insGTGTTGTGTGT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLF_chr2_68462585_68585162	68525742	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	176	0.0057	11	c.623 others(26): Show c.623-304_623-294dupTTTTTTTTTTT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLNR_chr11_57228591_57242250	57239109	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00741.hp1 others(9): Show HG00280.hp2 HG00733.hp2 HG00741.hp1 HG01168.hp1 HG01169.hp1 HG01934.hp1 HG01993.hp1 HG02630.hp2 HG02698.hp2 HG02976.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0021	a0001c0001t0003g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 others(2): Show a0001c0001t0003g0000 a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0007g0000 a0001c0002t0021g0000	12	430	0.0279	11	c.-21 others(22): Show c.-2106_-2105insTTTTTTTTTTT	APLNR	ENSG00000134817.12	transcript	ENST00000606794.2	protein_coding		1860		chr11	TogoVar
APLP2_chr11_130064894_130149805	130067080	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	274	0.0037	11	c.-28 others(22): Show c.-2898_-2897insTTTTTTTTTTT	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding		2813		chr11	TogoVar
APLP2_chr11_130064894_130149805	130083026	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	274	0.0037	11	c.105 others(30): Show c.105+12961_105+12971dupTTTTTTTTTTT	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA1_chr11_116830751_116842622	116831254	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	448	0.0022	11	c.45 others(22): Show c.4553_*4554insGAAAGAAAGAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4496		chr11	TogoVar
APOA1_chr11_116830751_116842622	116842618	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02647.hp1 others(7): Show HG01243.hp1 HG02257.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0004	10	448	0.0223	11	c.-50 others(22): Show c.-5035_-5034insAAAAAAAAAAA	APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding		4997		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818325	A A	ATATATAT others(4): Show ATATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	462	0.0022	11	c.25 others(22): Show c.2541_*2542insATTCATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2374		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818360	A A	ATATATAT others(4): Show ATATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01884.hp1 HG01934.hp1 others(4): Show HG00280.hp2 HG01884.hp1 HG01934.hp1 HG02683.hp2 HG03491.hp1 HG03492.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	7	462	0.0152	11	c.25 others(22): Show c.2506_*2507insATTCATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2339		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818483	T T	TATATATG others(4): Show TATATATGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02897.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0014 a0001c0010t0001g0014	3	462	0.0065	11	c.23 others(22): Show c.2383_*2384insTATTCATATAT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2216		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818508	T T	TATATGAA others(4): Show TATATGAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	462	0.0022	11	c.23 others(22): Show c.2358_*2359insTATATTCATAT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2191		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818526	T T	TATATATG others(4): Show TATATATGAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	462	0.0022	11	c.23 others(22): Show c.2340_*2341insTATTCATATAT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2173		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818631	T T	TATATATA others(4): Show TATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG03041.hp1 NA18998.hp2 HG00735.hp1 HG03041.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0001 a0001c0001t0001g0004 a0001c0001t0002g0001	3	462	0.0065	11	c.22 others(22): Show c.2235_*2236insTATATATATAT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2068		chr11	TogoVar
APOA4_chr11_116815700_116828304	116824772	A A	AAAAAAAT others(4): Show AAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	2	462	0.0043	11	c.-15 others(22): Show c.-1582_-1581insATATATTTTTT	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		1469		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7657054	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0340 a0001c0002t0001g0340	1	432	0.0023	11	c.17- others(26): Show c.17-2433_17-2423dupACACACACACA	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7665806	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0318 a0001c0002t0001g0318	1	432	0.0023	11	c.16+ others(22): Show c.16+50_16+51insTGTGTGTGTGT	APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4			chr12	TogoVar
APOBEC3B_chr22_38977347_38997779	38988681	T T	TCTCTCTC others(4): Show TCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA21309.hp2 NA18998.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0017 a0001c0001 a0003c0017	a0001c0001t0001 a0003c0017t0001 a0001c0001t0001 a0003c0017t0001	a0001c0001t0001g0068 a0003c0017t0001g0174 a0001c0001t0001g0068 a0003c0017t0001g0174	2	354	0.0057	11	c.570 others(26): Show c.570-776_570-775insCTCTCTCTTTC	APOBEC3B	ENSG00000179750.16	transcript	ENST00000333467.4	protein_coding	4/7			chr22	TogoVar
APOBEC4_chr1_183641275_183658316	183650254	T T	TTCTTTAA others(4): Show TTCTTTAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02280.hp1 HG02559.hp2 others(6): Show HG01123.hp1 HG02280.hp1 HG02559.hp2 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03195.hp2 HG03471.hp1 HG03579.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0007c0012 a0004c0005 a0007c0012	a0004c0005t0004 a0007c0012t0004 a0004c0005t0004 a0007c0012t0004	a0004c0005t0004g0006 a0007c0012t0004g0024 a0004c0005t0004g0006 a0007c0012t0004g0024	9	378	0.0238	11	c.-30 others(28): Show c.-30-1444_-30-1443insTTTTTTAAAGA	APOBEC4	ENSG00000173627.8	transcript	ENST00000308641.6	protein_coding	1/1			chr1	TogoVar
APOC1_chr19_44909608_44924346	44916137	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG02055.hp1 others(5): Show HG01123.hp1 HG01123.hp2 HG02055.hp1 HG02486.hp2 HG03195.hp2 HG03225.hp1 NA19006.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0062 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0134	8	436	0.0184	11	c.59- others(22): Show c.59-44_59-34dupAAAAAAAAAAA	APOC1	ENSG00000130208.10	transcript	ENST00000592535.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
APOC1_chr19_44909608_44924346	44921097	T T	TTTATTTA others(4): Show TTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	436	0.0023	11	c.18 others(22): Show c.1867_*1868insTTATTTATTTA	APOC1	ENSG00000130208.10	transcript	ENST00000592535.6	protein_coding		1752		chr19	TogoVar

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