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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AP2A1_chr19_49762001_49812114	49762401	ACTTTCTT others(8): Show ACTTTCTTTCTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	342	0.0029	-15	c.-47 others(26): Show c.-4732_-4718delCTTTCTTTCTTTTTT		AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding					4599		chr19	TogoVar
AP2A1_chr19_49762001_49812114	49787332	TTGTTTGT others(8): Show TTGTTTGTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00642.hp2 others(72): Show HG00280.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG04115.hp2 HG04199.hp2 NA18747.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18968.hp2 NA18969.hp1 NA18981.hp1 NA18992.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp1 NA19043.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 a0001c0006t0002 a0001c0007t0002 a0001c0012t0002	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 others(68): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0155 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0223 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0261 a0001c0001t0001g0299 a0001c0001t0001g0309 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0005t0001g0184 a0001c0005t0001g0190 a0001c0006t0002g0039 a0001c0007t0002g0035 a0001c0012t0002g0049	75	342	0.2193	-15	c.474 others(32): Show c.474-4601_474-4587delGTTTGTTTTTTTTGT		AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
AP2B1_chr17_35582322_35731413	35583115	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	372	0.0027	-15	c.-43 others(26): Show c.-4336_-4322delTTTTTTTTTTTTTTT		AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding					4206		chr17	TogoVar
AP2B1_chr17_35582322_35731413	35616142	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp2 others(10): Show HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG02055.hp2 HG02602.hp2 HG02615.hp1 HG02738.hp2 HG02895.hp2 HG02922.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0007 a0001c0008t0002 a0001c0001t0002 a0001c0001t0007 a0001c0008t0002	a0001c0001t0002g0002 a0001c0001t0002g0171 a0001c0001t0002g0174 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0183 a0001c0001t0002g0369 a0001c0001t0007g0004 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0008t0002g0122	13	372	0.0350	-15	c.525 others(32): Show c.525+7780_525+7794delTTTTTTTTTTTTTTT		AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720565	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03654.hp1 NA19084.hp2 HG02004.hp1 HG03654.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0121 a0001c0001t0006g0062 a0001c0001t0006g0119 a0001c0001t0002g0121 a0001c0001t0006g0062 a0001c0001t0006g0119	3	372	0.0081	-15	c.278 others(34): Show c.2782-3058_2782-3044delATATATATTTTTTTT		AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720567	ATATATAT others(8): Show ATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01928.hp1 others(15): Show HG00735.hp1 HG01106.hp2 HG01928.hp1 HG02015.hp2 HG03491.hp1 HG03492.hp1 HG03710.hp1 NA18940.hp1 NA18983.hp2 NA18986.hp2 NA18992.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19066.hp2 NA19077.hp1 NA19081.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0001 a0001c0001t0002g0053 a0001c0001t0002g0068 others(14): Show a0001c0001t0002g0001 a0001c0001t0002g0053 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0018g0077	18	372	0.0484	-15	c.278 others(34): Show c.2782-3056_2782-3042delATATATTTTTTTTTT		AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720569	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	372	0.0027	-15	c.278 others(34): Show c.2782-3054_2782-3040delATATTTTTTTTTTTT		AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2M1_chr3_184169855_184189091	184170135	CCCCGCAC others(8): Show CCCCGCACCCATACAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18983.hp1 NA19002.hp2 others(2): Show NA18974.hp2 NA18983.hp1 NA19002.hp2 NA19059.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	5	422	0.0119	-15	c.-48 others(26): Show c.-4867_-4853delCCCGCACCCATACAA		AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding					4719		chr3	TogoVar
AP2S1_chr19_46833167_46855846	46855092	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01243.hp1 others(13): Show HG00642.hp1 HG01081.hp2 HG01243.hp1 HG02055.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0018 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0319 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299	16	424	0.0377	-15	c.-43 others(26): Show c.-4341_-4327delTTTTTTTTTTTTTTT		AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding					4247		chr19	TogoVar
AP3B1_chr5_77997326_78299698	78001483	GCTTCTGT others(8): Show GCTTCTGTACATTGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0226 a0001c0004t0002g0226	1	226	0.0044	-15	c.14 others(26): Show c.1404_*1418delTGCAATGTACAGAAG		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding					842		chr5	TogoVar
AP3B1_chr5_77997326_78299698	78023439	CAAGAAAA others(8): Show CAAGAAAAGAAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0185 a0001c0004t0002g0185	1	226	0.0044	-15	c.289 others(34): Show c.2895-2665_2895-2651delTTCTTTTCTTTTCTT		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	24/26						chr5	TogoVar
AP3B1_chr5_77997326_78299698	78189869	CAAATAAA others(8): Show CAAATAAAATAAAATA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02055.hp2 HG02280.hp1 others(10): Show HG01515.hp2 HG02055.hp2 HG02280.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp1 NA18978.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0006c0013	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0002c0003t0001 a0006c0013t0002	a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0002t0001g0184 others(10): Show a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0002t0001g0184 a0001c0004t0002g0226 a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0194 a0002c0003t0001g0010 a0006c0013t0002g0193	13	226	0.0575	-15	c.787 others(32): Show c.787-8222_787-8208delTATTTTATTTTATTT		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26						chr5	TogoVar
AP3B1_chr5_77997326_78299698	78230656	ACCAAGTT others(8): Show ACCAAGTTCCACTTCC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show HG00408.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02074.hp2 HG02148.hp1 HG02523.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18961.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1 NA19083.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0010 a0002c0003 others(1): Show a0001c0001 a0001c0010 a0002c0003 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0010t0002 a0002c0003t0002 a0005c0015t0001	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 others(29): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0159 a0001c0001t0003g0121 a0001c0010t0002g0024 a0002c0003t0002g0031 a0005c0015t0001g0105	32	226	0.1416	-15	c.280 others(32): Show c.280-2432_280-2418delGGAAGTGGAACTTGG		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	3/26						chr5	TogoVar
AP3B1_chr5_77997326_78299698	78260360	GCAGATCA others(8): Show GCAGATCACCAGAGGT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0006 a0001c0004t0002g0006	1	226	0.0044	-15	c.204 others(32): Show c.204+7145_204+7159delACCTCTGGTGATCTG		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	2/26						chr5	TogoVar
AP3B2_chr15_82654281_82714875	82711575	TTCAGTCT others(8): Show TTCAGTCTTTATCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	368	0.0027	-15	c.-18 others(26): Show c.-1884_-1870delGGGGATAAAGACTGA		AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding					1701		chr15	TogoVar
AP3D1_chr19_2095988_2156566	2146007	TGGGAGAA others(8): Show TGGGAGAAGCTCTGTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02257.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0002 a0001c0008t0002 a0001c0006t0002 a0001c0008t0002	a0001c0006t0002g0009 a0001c0008t0002g0184 a0001c0008t0002g0185 others(1): Show a0001c0006t0002g0009 a0001c0008t0002g0184 a0001c0008t0002g0185 a0001c0008t0002g0253	4	406	0.0099	-15	c.96+ others(30): Show c.96+5217_96+5231delCACAGAGCTTCTCCC		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/31						chr19	TogoVar
AP3M1_chr10_74115255_74155828	74115826	CTGCTTCC others(8): Show CTGCTTCCTGCATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0108 a0001c0001t0010g0108	1	334	0.0030	-15	c.79 others(26): Show c.7969_*7983delTATATGCAGGAAGCA		AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding					4428		chr10	TogoVar
AP3M1_chr10_74115255_74155828	74149267	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01978.hp2 HG02559.hp2 others(5): Show HG01243.hp1 HG01978.hp2 HG02559.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03540.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0005t0006	a0001c0001t0001g0034 a0001c0001t0007g0207 a0001c0001t0011g0203 others(4): Show a0001c0001t0001g0034 a0001c0001t0007g0207 a0001c0001t0011g0203 a0001c0001t0011g0204 a0001c0001t0013g0205 a0001c0001t0013g0206 a0001c0005t0006g0265	8	334	0.0240	-15	c.-4+ others(30): Show c.-4+1473_-4+1487delAAAAAAAAAAAAAAA		AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8						chr10	TogoVar
AP5B1_chr11_65768898_65785976	65778692	TGGCCAGC others(8): Show TGGCCAGCACCTGCAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18989.hp2 NA18989.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0043 a0012c0017t0043	a0012c0017t0043g0041 a0012c0017t0043g0041	1	424	0.0024	-15	c.178 others(24): Show c.1786_1800delCTGCAGGTGCTGGCC	p.Leu others(13): Show p.Leu596_Ala600del	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2185/6980	1786/2637	596/878			chr11	TogoVar
APAF1_chr12_98640290_98740433	98640441	TCAAAACA others(8): Show TCAAAACAAAACAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG02895.hp2 others(10): Show HG00741.hp2 HG01433.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03195.hp1 HG04228.hp1 NA18940.hp2 NA18952.hp2 NA18968.hp1 NA18982.hp2 NA18984.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0001t0034 a0001c0002t0001	a0001c0001t0001g0110 a0001c0001t0001g0294 a0001c0001t0003g0159 others(10): Show a0001c0001t0001g0110 a0001c0001t0001g0294 a0001c0001t0003g0159 a0001c0001t0010g0291 a0001c0001t0010g0292 a0001c0001t0010g0295 a0001c0001t0010g0296 a0001c0001t0010g0297 a0001c0001t0014g0122 a0001c0001t0014g0123 a0001c0001t0014g0293 a0001c0001t0034g0208 a0001c0002t0001g0355	13	366	0.0355	-15	c.-54 others(26): Show c.-5435_-5421delCAAAACAAAACAAAA		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding					4848		chr12	TogoVar
APAF1_chr12_98640290_98740433	98653656	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 NA18522.hp1 others(3): Show HG01069.hp1 HG01071.hp1 NA18522.hp1 NA18959.hp1 NA18970.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0344 others(3): Show a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0015g0129	6	366	0.0164	-15	c.526 others(32): Show c.526+3994_526+4008delAAAAAAAAAAAAAAA		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653690	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0255 a0001c0001t0009g0255	1	366	0.0027	-15	c.526 others(32): Show c.526+4008_526+4022delATATATATATATATA		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653692	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	366	0.0027	-15	c.526 others(32): Show c.526+4009_526+4023delTATATATATATATAT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26						chr12	TogoVar
APBA1_chr9_69422532_69677371	69531132	ATAGTGTA others(8): Show ATAGTGTATCTTACAC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	210	0.0048	-15	c.-69 others(34): Show c.-69-13868_-69-13854delGTGTAAGATACACTA		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBA1_chr9_69422532_69677371	69587234	ATGGGTCA others(8): Show ATGGGTCACATTCCTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0143 a0001c0001t0005g0143	1	210	0.0048	-15	c.-69 others(34): Show c.-69-69970_-69-69956delAAGGAATGTGACCCA		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBA2_chr15_28880974_29123315	28943731	CGGCTCCT others(8): Show CGGCTCCTCCAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG03130.hp2 others(1): Show HG02559.hp1 HG02647.hp1 HG03130.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0003 a0002c0002t0006 a0002c0002t0043 others(1): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0043 a0002c0006t0017	a0002c0002t0003g0103 a0002c0002t0006g0098 a0002c0002t0043g0200 others(1): Show a0002c0002t0003g0103 a0002c0002t0006g0098 a0002c0002t0043g0200 a0002c0006t0017g0114	4	204	0.0196	-15	c.-95 others(34): Show c.-95+22016_-95+22030delTCCTCCAGCCCTGGC		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29022476	TTGAAATT others(8): Show TTGAAATTTATTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00597.hp2 others(129): Show HG00323.hp2 HG00408.hp2 HG00597.hp2 HG00738.hp1 HG01081.hp2 HG01255.hp1 HG01257.hp2 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0007 a0001c0009 others(12): Show a0001c0001 a0001c0007 a0001c0009 a0001c0013 a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0012 a0002c0014 a0002c0016 a0002c0017 a0003c0008 a0004c0015 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0039 a0001c0001t0042 a0001c0007t0004 a0001c0009t0014 a0001c0013t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0015 a0002c0002t0023 a0002c0002t0032 a0002c0002t0041 a0002c0002t0045 a0002c0003t0012 a0002c0003t0013 a0002c0003t0018 a0002c0003t0038 a0002c0004t0004 a0002c0004t0009 a0002c0004t0022 a0002c0006t0016 a0002c0012t0010 a0002c0014t0035 a0002c0016t0036 a0002c0017t0034 a0003c0008t0002 a0003c0008t0003 a0004c0015t0006 a0005c0010t0037	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(129): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0075 a0001c0001t0002g0006 a0001c0001t0002g0109 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0183 a0001c0001t0002g0190 a0001c0001t0002g0197 a0001c0001t0003g0104 a0001c0001t0003g0150 a0001c0001t0003g0157 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0173 a0001c0001t0003g0186 a0001c0001t0003g0196 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0004g0045 a0001c0001t0005g0009 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0031 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0041 a0001c0001t0005g0078 a0001c0001t0005g0088 a0001c0001t0006g0160 a0001c0001t0007g0136 a0001c0001t0007g0139 a0001c0001t0007g0156 a0001c0001t0007g0162 a0001c0001t0008g0105 a0001c0001t0008g0163 a0001c0001t0012g0199 a0001c0001t0020g0181 a0001c0001t0024g0052 a0001c0001t0025g0071 a0001c0001t0027g0011 a0001c0001t0029g0046 a0001c0001t0031g0055 a0001c0001t0039g0188 a0001c0001t0042g0097 a0001c0007t0004g0043 a0001c0007t0004g0044 a0001c0009t0014g0070 a0001c0009t0014g0083 a0001c0013t0009g0127 a0002c0002t0001g0020 a0002c0002t0001g0050 a0002c0002t0001g0076 a0002c0002t0002g0095 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0003g0101 a0002c0002t0003g0103 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0182 a0002c0002t0003g0193 a0002c0002t0003g0204 a0002c0002t0004g0013 a0002c0002t0004g0042 a0002c0002t0004g0089 a0002c0002t0005g0012 a0002c0002t0005g0026 a0002c0002t0006g0093 a0002c0002t0006g0098 a0002c0002t0006g0108 a0002c0002t0006g0118 a0002c0002t0006g0124 a0002c0002t0006g0161 a0002c0002t0006g0178 a0002c0002t0006g0185 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0007g0115 a0002c0002t0007g0140 a0002c0002t0008g0125 a0002c0002t0008g0192 a0002c0002t0008g0198 a0002c0002t0009g0111 a0002c0002t0009g0176 a0002c0002t0010g0072 a0002c0002t0010g0073 a0002c0002t0010g0074 a0002c0002t0011g0102 a0002c0002t0011g0110 a0002c0002t0011g0123 a0002c0002t0011g0171 a0002c0002t0012g0187 a0002c0002t0015g0084 a0002c0002t0015g0091 a0002c0002t0023g0028 a0002c0002t0032g0082 a0002c0002t0041g0119 a0002c0002t0045g0113 a0002c0003t0012g0092 a0002c0003t0013g0029 a0002c0003t0013g0081 a0002c0003t0018g0145 a0002c0003t0018g0146 a0002c0003t0038g0107 a0002c0004t0004g0069 a0002c0004t0009g0106 a0002c0004t0009g0121 a0002c0004t0022g0080 a0002c0006t0016g0099 a0002c0006t0016g0100 a0002c0012t0010g0027 a0002c0014t0035g0191 a0002c0016t0036g0001 a0002c0017t0034g0177 a0003c0008t0002g0141 a0003c0008t0003g0126 a0004c0015t0006g0120 a0005c0010t0037g0175	132	204	0.6471	-15	c.-41 others(34): Show c.-41+26675_-41+26689delATTTATTTTTGTGAA		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26445129	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01891.hp2 HG02155.hp1 others(15): Show HG00544.hp2 HG01891.hp2 HG02155.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG03516.hp2 HG03654.hp2 HG04199.hp2 NA18612.hp2 NA18953.hp2 NA19043.hp2 NA19082.hp1 NA19086.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0006 a0003c0003 a0001c0001 a0002c0006 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0006t0002 a0003c0003t0001	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0120 others(15): Show a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0323 a0001c0001t0003g0317 a0002c0006t0002g0307 a0003c0003t0001g0216 a0003c0003t0001g0217	18	358	0.0503	-15	c.-1+ others(30): Show c.-1+6279_-1+6293delGAAAGAAAGAAAGAA		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26566439	GAGAAAAG others(8): Show GAGAAAAGGTTTCACC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	358	0.0028	-15	c.147 others(32): Show c.1474-520_1474-506delGAAAAGGTTTCACCA		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB2_chr4_40805027_41219542	40907367	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0006 a0001c0002t0010g0006	1	192	0.0052	-15	c.125 others(36): Show c.1255-13971_1255-13957delAAATATATATATATA		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	40907369	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	192	0.0052	-15	c.125 others(36): Show c.1255-13973_1255-13959delAAAAATATATATATA		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	40982332	AAGGAAGG others(8): Show AAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp2 HG02647.hp2 HG00544.hp2 HG01243.hp2 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0002 a0002c0001t0003 a0001c0004t0002 a0002c0001t0003	a0001c0004t0002g0112 a0001c0004t0002g0116 a0002c0001t0003g0123 a0001c0004t0002g0112 a0001c0004t0002g0116 a0002c0001t0003g0123	3	192	0.0156	-15	c.835 others(34): Show c.835+31236_835+31250delCCTTCCTTCCTTCCT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	40982352	AAGGAAGG others(8): Show AAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0162 a0001c0003t0009g0162	1	192	0.0052	-15	c.835 others(34): Show c.835+31216_835+31230delCCTTCCTTCCTTCCT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	40982368	AAGGAAGG others(8): Show AAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01975.hp2 HG00558.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0185 a0001c0003t0001g0054 a0001c0003t0001g0185	2	192	0.0104	-15	c.835 others(34): Show c.835+31200_835+31214delCCTTCCTTCCTTCCT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	40982372	AAGGAAGG others(8): Show AAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	192	0.0052	-15	c.835 others(34): Show c.835+31196_835+31210delCCTTCCTTCCTTCCT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	41032774	CTTTCTTT others(8): Show CTTTCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02630.hp2 HG02647.hp1 others(8): Show HG01169.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp2 HG03453.hp2 HG06807.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0005 a0002c0005t0006 others(4): Show a0002c0005t0001 a0002c0005t0005 a0002c0005t0006 a0002c0005t0008 a0002c0005t0023 a0002c0005t0028 a0002c0005t0041	a0002c0005t0001g0100 a0002c0005t0001g0142 a0002c0005t0001g0149 others(8): Show a0002c0005t0001g0100 a0002c0005t0001g0142 a0002c0005t0001g0149 a0002c0005t0001g0155 a0002c0005t0005g0076 a0002c0005t0006g0187 a0002c0005t0008g0127 a0002c0005t0008g0176 a0002c0005t0023g0165 a0002c0005t0028g0012 a0002c0005t0041g0124	11	192	0.0573	-15	c.19+ others(28): Show c.19+447_19+461delAAAAAAAAAAAGAAA		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	5/17						chr4	TogoVar
APELA_chr4_164872178_164902527	164875915	AGTCCCCA others(8): Show AGTCCCCAAACAGGTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	434	0.0023	-15	c.-14 others(26): Show c.-1416_-1402delGTCCCCAAACAGGTC		APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding					1262		chr4	TogoVar
APEX2_chrX_54995363_55014057	55009882	TATGCTGA others(8): Show TATGCTGATGGTTCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19082.hp1 NA19077.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0029 a0001c0001t0002g0001 a0001c0001t0002g0029	2	303	0.0066	-15	c.24 others(26): Show c.2448_*2462delATGCTGATGGTTCAG		APEX2	ENSG00000169188.5	transcript	ENST00000374987.4	protein_coding					826		chrX	TogoVar
APIP_chr11_34877295_34921379	34898785	GGTTTTTT others(8): Show GGTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02615.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0074 a0001c0001t0004g0075	2	355	0.0056	-15	c.58- others(30): Show c.58-3690_58-3676delAAAAAAAAAAAAAAC		APIP	ENSG00000149089.13	transcript	ENST00000395787.4	protein_coding	1/6						chr11	TogoVar
APLF_chr2_68462585_68585162	68517017	AATAATAT others(8): Show AATAATATATTAATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01192.hp1 others(18): Show HG00639.hp1 HG00738.hp1 HG01192.hp1 HG01261.hp2 HG01943.hp1 HG02257.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03834.hp2 NA18906.hp1 NA20805.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0005 a0003c0003t0004 a0003c0003t0005	a0003c0003t0004g0104 a0003c0003t0004g0114 a0003c0003t0004g0115 others(18): Show a0003c0003t0004g0104 a0003c0003t0004g0114 a0003c0003t0004g0115 a0003c0003t0004g0119 a0003c0003t0004g0120 a0003c0003t0004g0121 a0003c0003t0004g0122 a0003c0003t0004g0123 a0003c0003t0004g0124 a0003c0003t0004g0125 a0003c0003t0004g0126 a0003c0003t0004g0151 a0003c0003t0005g0105 a0003c0003t0005g0127 a0003c0003t0005g0128 a0003c0003t0005g0129 a0003c0003t0005g0130 a0003c0003t0005g0131 a0003c0003t0005g0132 a0003c0003t0005g0133 a0003c0003t0005g0134	21	176	0.1193	-15	c.622 others(32): Show c.622+3347_622+3361delTAATATATAATATAT		APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
APLNR_chr11_57228591_57242250	57239411	TTCTTTAA others(8): Show TTCTTTAAACAGGAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02559.hp2 others(2): Show HG01884.hp1 HG02055.hp2 HG02559.hp2 HG02723.hp1 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0000 a0002c0003t0010g0000	5	430	0.0116	-15	c.-24 others(26): Show c.-2422_-2408delGCTCCTGTTTAAAGA		APLNR	ENSG00000134817.12	transcript	ENST00000606794.2	protein_coding					2162		chr11	TogoVar
APOA1_chr11_116830751_116842622	116831234	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA19004.hp1 NA19065.hp2 others(2): Show HG00408.hp2 NA19004.hp1 NA19065.hp2 NA19078.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	448	0.0112	-15	c.45 others(26): Show c.4559_*4573delGAAAGAAAGAAAGAA		APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding					4516		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7658045	CTGTTTTG others(8): Show CTGTTTTGTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	1	432	0.0023	-15	c.17- others(30): Show c.17-3428_17-3414delAAACAAAACAAAACA		APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4						chr12	TogoVar
APOBEC3A_chr22_38952609_38968184	38958276	TTCCTTCC others(8): Show TTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	360	0.0028	-15	c.29+ others(28): Show c.29+573_29+587delCCTTCCTTCCTTCCT		APOBEC3A	ENSG00000128383.14	transcript	ENST00000249116.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr22	TogoVar
APOBEC3A_chr22_38952609_38968184	38958563	TTTCTTCT others(8): Show TTTCTTCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0032 a0001c0005t0008g0032	1	360	0.0028	-15	c.29+ others(28): Show c.29+844_29+858delTTCTTCTTTCCTTTC		APOBEC3A	ENSG00000128383.14	transcript	ENST00000249116.7	protein_coding	1/4						chr22	TogoVar
APOBEC3A_chr22_38952609_38968184	38963961	AACACACA others(8): Show AACACACACAACACAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	360	0.0028	-15	c.14 others(26): Show c.1453_*1467delACACACACAACACAT		APOBEC3A	ENSG00000128383.14	transcript	ENST00000249116.7	protein_coding					778		chr22	TogoVar
APOB_chr2_20996429_21049073	21000834	TTTATAAA others(8): Show TTTATAAAATATGTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	-15	c.88 others(24): Show c.881_*895delTTACATATTTTATAA		APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding					594		chr2	TogoVar
APOB_chr2_20996429_21049073	21001127	ATATTTAA others(8): Show ATATTTAATTATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0078 a0078	a0078c0045 a0078c0045	a0078c0045t0001 a0078c0045t0001	a0078c0045t0001g0067 a0078c0045t0001g0067	1	350	0.0029	-15	c.58 others(24): Show c.588_*602delATTTATAATTAAATA		APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding					301		chr2	TogoVar
APOB_chr2_20996429_21049073	21001189	ATTTAATT others(8): Show ATTTAATTATAAATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03041.hp1 HG03041.hp2 others(2): Show HG02055.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03486.hp2	a0042 a0061 a0069 others(2): Show a0042 a0061 a0069 a0077 a0078	a0042c0074 a0061c0099 a0069c0052 others(2): Show a0042c0074 a0061c0099 a0069c0052 a0077c0046 a0078c0045	a0042c0074t0001 a0061c0099t0002 a0069c0052t0002 others(2): Show a0042c0074t0001 a0061c0099t0002 a0069c0052t0002 a0077c0046t0002 a0078c0045t0001	a0042c0074t0001g0131 a0061c0099t0002g0234 a0069c0052t0002g0077 others(2): Show a0042c0074t0001g0131 a0061c0099t0002g0234 a0069c0052t0002g0077 a0077c0046t0002g0066 a0078c0045t0001g0067	5	350	0.0143	-15	c.52 others(24): Show c.526_*540delATATTTATAATTAAA		APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding					239		chr2	TogoVar
APOC1_chr19_44909608_44924346	44910674	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG01069.hp2 others(19): Show HG00323.hp2 HG00544.hp1 HG01069.hp2 HG01106.hp1 HG01123.hp2 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG02040.hp1 HG02132.hp1 HG02602.hp2 HG04204.hp1 NA18964.hp1 NA18975.hp1 NA18975.hp2 NA18984.hp1 NA18994.hp1 NA19002.hp1 NA19065.hp1 NA19082.hp1 NA19082.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0035 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0004g0088 a0002c0002t0001g0005 a0002c0002t0001g0008	22	436	0.0505	-15	c.-40 others(26): Show c.-4079_-4065delTTTTTTTTTTTTTTT		APOC1	ENSG00000130208.10	transcript	ENST00000592535.6	protein_coding					3933		chr19	TogoVar

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