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
APOBEC3H_chr22_39092244_39109067	39096344	C C	CAGGCTCA others(13): Show CAGGCTCAGGGTCCTGCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0035 a0012c0015t0001g0035	1	418	0.0024	20	c.-10 others(31): Show c.-1007_-1006insAGGCTCAGGGTCCTGCCAGG	APOBEC3H	ENSG00000100298.16	transcript	ENST00000442487.8	protein_coding		899		chr22	TogoVar
APOC2_chr19_44941051_44954565	44946234	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	398	0.0025	20	c.-14 others(35): Show c.-14+160_-14+161insTGTGTGTGTGTGTGAGAGAG	APOC2	ENSG00000234906.11	transcript	ENST00000252490.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
APOC4_chr19_44937237_44950496	44946234	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	398	0.0050	20	c.92 others(29): Show c.929_*930insGTGTGTGTGTGTGTGAGAGA	APOC4	ENSG00000267467.4	transcript	ENST00000592954.2	protein_coding		739		chr19	TogoVar
APOH_chr17_66207033_66234415	66224671	G G	GGGAAAGG others(13): Show GGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19003.hp2 HG02015.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0311 a0001c0001t0001g0312	2	386	0.0052	20	c.339 others(35): Show c.339-898_339-897insTTTCCTTTCCTTTCCTTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224676	G G	GGGAAAGG others(13): Show GGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0081 a0009c0009t0001g0081	1	386	0.0026	20	c.339 others(35): Show c.339-903_339-902insTTTCCTTTCCTTTCCTTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224681	G G	GGGAAAGG others(13): Show GGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	386	0.0026	20	c.339 others(35): Show c.339-908_339-907insTTTCCTTTCCTTTCCTTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224691	G G	GGGAAGGG others(13): Show GGGAAGGGAAGGGAAGGGAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0119 a0005c0005t0002g0119	1	386	0.0026	20	c.339 others(35): Show c.339-918_339-917insTTTCCCTTCCCTTCCCTTCC	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOH_chr17_66207033_66234415	66224748	G G	GAAAGGAA others(13): Show GAAAGGAAAGGAAAGGAAAGC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	386	0.0026	20	c.339 others(35): Show c.339-975_339-974insGCTTTCCTTTCCTTTCCTTT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	3/7			chr17	TogoVar
APOL3_chr22_36135329_36165755	36145972	G G	GTCTCCCT others(13): Show GTCTCCCTGTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG04199.hp1 NA18969.hp2 HG02135.hp2 HG04199.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0002t0001g0081 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0002t0001g0081	3	366	0.0082	20	c.11- others(33): Show c.11-374_11-373insGAGAAAGAGAGACAGGGAGA	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding	2/3			chr22	TogoVar
APOM_chr6_31650894_31663210	31652320	A A	AACACACA others(13): Show AACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	419	0.0024	20	c.-36 others(31): Show c.-3647_-3646insACACACACACACACACACAC	APOM	ENSG00000204444.11	transcript	ENST00000375916.4	protein_coding		3573		chr6	TogoVar
APOOL_chrX_84998877_85098315	85008535	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19088.hp1 NA19074.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0007 a0001c0001t0021	a0001c0001t0007g0161 a0001c0001t0021g0160 a0001c0001t0007g0161 a0001c0001t0021g0160	2	256	0.0078	20	c.15+ others(35): Show c.15+4628_15+4647dupGTGTGTGTGTGTGTGTGTGT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85038524	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0019 a0001c0001t0112g0019	1	256	0.0039	20	c.16- others(35): Show c.16-7915_16-7896dupTTTTTTTTTTTTTTTTTTTT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85062118	T T	TGCCTTCA others(13): Show TGCCTTCATTTCATTATTTAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02723.hp1 others(1): Show HG02055.hp1 HG02145.hp1 HG02723.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0108 a0001c0001t0114 others(1): Show a0001c0001t0105 a0001c0001t0108 a0001c0001t0114 a0001c0001t0115	a0001c0001t0105g0217 a0001c0001t0108g0214 a0001c0001t0114g0216 others(1): Show a0001c0001t0105g0217 a0001c0001t0108g0214 a0001c0001t0114g0216 a0001c0001t0115g0215	4	256	0.0156	20	c.395 others(37): Show c.395-5008_395-4989dupGCCTTCATTTCATTATTTAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOO_chrX_23828353_23912938	23829565	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	269	0.0037	20	c.40 others(31): Show c.4076_*4077insATATATATATATATATATAT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3787		chrX	TogoVar
APOO_chrX_23828353_23912938	23829567	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	269	0.0037	20	c.40 others(31): Show c.4074_*4075insATATATATATATATATATAT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3785		chrX	TogoVar
APOO_chrX_23828353_23912938	23829571	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 NA19086.hp1 HG03710.hp1 NA19086.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0052 a0004c0004t0001g0035 a0001c0001t0001g0052 a0004c0004t0001g0035	2	269	0.0074	20	c.40 others(31): Show c.4070_*4071insATATATATATATATATATAT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3781		chrX	TogoVar
APOO_chrX_23828353_23912938	23829573	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	269	0.0037	20	c.40 others(31): Show c.4068_*4069insATATATATATATATATATAT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3779		chrX	TogoVar
APPBP2_chr17_60438158_60531242	60455793	C C	CTTTTTTC others(13): Show CTTTTTTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show HG00639.hp2 HG01109.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0009 a0002c0002t0014 a0002c0002t0018 others(9): Show a0002c0002t0009 a0002c0002t0014 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 a0002c0003t0013 a0002c0003t0016 a0002c0003t0017 a0002c0003t0039	a0002c0002t0009g0010 a0002c0002t0009g0012 a0002c0002t0009g0018 others(22): Show a0002c0002t0009g0010 a0002c0002t0009g0012 a0002c0002t0009g0018 a0002c0002t0014g0019 a0002c0002t0014g0020 a0002c0002t0018g0021 a0002c0002t0019g0022 a0002c0002t0020g0017 a0002c0003t0007g0007 a0002c0003t0007g0008 a0002c0003t0007g0014 a0002c0003t0007g0015 a0002c0003t0007g0016 a0002c0003t0008g0004 a0002c0003t0008g0005 a0002c0003t0008g0006 a0002c0003t0010g0009 a0002c0003t0010g0011 a0002c0003t0010g0013 a0002c0003t0013g0023 a0002c0003t0013g0024 a0002c0003t0016g0139 a0002c0003t0016g0140 a0002c0003t0017g0003 a0002c0003t0039g0141	25	144	0.1736	20	c.114 others(37): Show c.1147+502_1147+503insAAAAAAAAAAAAAGAAAAAA	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	10/12			chr17	TogoVar
APPBP2_chr17_60438158_60531242	60518503	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02055.hp1 HG02109.hp2 others(8): Show HG01346.hp1 HG02055.hp1 HG02109.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG06807.hp2 NA18906.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0028 a0001c0001t0029 a0002c0002t0025	a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0138 others(8): Show a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0138 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0011g0054 a0001c0001t0011g0056 a0001c0001t0011g0057 a0001c0001t0028g0055 a0001c0001t0029g0058 a0002c0002t0025g0030	11	144	0.0764	20	c.138 others(37): Show c.138+7271_138+7290dupACACACACACACACACACAC	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	1/12			chr17	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00544.hp2 others(11): Show HG00099.hp1 HG00544.hp1 HG00544.hp2 HG00735.hp1 HG01081.hp1 HG01123.hp1 HG01168.hp2 HG01243.hp1 HG01496.hp2 HG02132.hp1 HG03492.hp2 NA18942.hp2 NA19066.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0025 a0001c0001t0002g0026 others(8): Show a0001c0001t0001g0013 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0115 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0149 a0001c0001t0002g0160 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178	14	266	0.0526	20	c.184 others(39): Show c.1842+1617_1842+1636dupTTTTTTTTTTTTTTTTTTTT	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
APPL2_chr12_105168300_105241174	105186622	T T	TATATCAT others(13): Show TATATCATATATATGATATCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(92): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02148.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02922.hp1 HG02922.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18986.hp1 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19006.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0009	a0001c0001 a0001c0006 a0002c0002 others(5): Show a0001c0001 a0001c0006 a0002c0002 a0002c0016 a0002c0020 a0005c0019 a0006c0018 a0009c0017	a0001c0001t0004 a0001c0006t0004 a0002c0002t0002 others(6): Show a0001c0001t0004 a0001c0006t0004 a0002c0002t0002 a0002c0002t0008 a0002c0016t0008 a0002c0020t0002 a0005c0019t0002 a0006c0018t0002 a0009c0017t0002	a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 others(85): Show a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0006t0004g0251 a0002c0002t0002g0003 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0119 a0002c0002t0002g0186 a0002c0002t0002g0207 a0002c0002t0002g0217 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0008g0056 a0002c0002t0008g0088 a0002c0016t0008g0057 a0002c0020t0002g0092 a0005c0019t0002g0091 a0006c0018t0002g0086 a0009c0017t0002g0034	95	392	0.2424	20	c.163 others(39): Show c.1634+1650_1634+1651insCGATATCATATATATGATAT	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	17/20			chr12	TogoVar
AQP11_chr11_77584953_77615356	77596537	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01123.hp2 HG01928.hp1 others(6): Show HG00423.hp2 HG01123.hp2 HG01928.hp1 HG02622.hp1 HG02897.hp1 HG03017.hp1 HG03486.hp1 NA19066.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0204 others(6): Show a0001c0001t0001g0176 a0001c0001t0001g0186 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0221 a0001c0001t0001g0226 a0002c0002t0002g0250 a0002c0002t0002g0268 a0002c0002t0002g0269	9	432	0.0208	20	c.619 others(37): Show c.619+5933_619+5952dupATATATATATATATATATAT	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
AQP12B_chr2_240671418_240687885	240673478	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0049 a0009c0012t0001g0049	1	179	0.0056	20	c.30 others(31): Show c.3066_*3067insCAAAACAAAACAAAACAAAA	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding		2939		chr2	TogoVar
AQP5_chr12_49956872_49970682	49970536	A A	AAGGCCAC others(13): Show AAGGCCACAGGGCAGCTGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(181): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02809.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0003g0001 a0001c0001t0004g0002 a0001c0001t0008g0008 a0005c0006t0001g0010	184	466	0.3949	20	c.53 others(31): Show c.5359_*5360insAGGCCACAGGGCAGCTGGTG	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding		4855		chr12	TogoVar
AQP6_chr12_49967947_49982139	49970536	A A	AAGGCCAC others(13): Show AAGGCCACAGGGCAGCTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(174): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19089.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0004c0006t0001 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0013 a0001c0001t0013g0001 a0001c0001t0014g0001 a0001c0001t0015g0002 a0001c0001t0016g0001 a0001c0001t0019g0002 a0002c0002t0001g0001 a0002c0002t0002g0003 a0002c0002t0005g0001 a0004c0006t0001g0001 a0005c0009t0001g0001	177	458	0.3865	20	c.-26 others(31): Show c.-2638_-2637insAGGCCACAGGGCAGCTGGTG	AQP6	ENSG00000086159.14	transcript	ENST00000315520.10	protein_coding		2410		chr12	TogoVar
AQP8_chr16_25211947_25233932	25216076	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0175	1	420	0.0024	20	c.-97 others(29): Show c.-970_-969insTTTCTTTCTTTCTTTCTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		870		chr16	TogoVar
AQP8_chr16_25211947_25233932	25216215	T T	TTCTTTCT others(13): Show TTCTTTCTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	420	0.0024	20	c.-83 others(29): Show c.-831_-830insTCTTTCTCTTTCTTTCTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		731		chr16	TogoVar
AQP8_chr16_25211947_25233932	25216215	T T	TTCTTTTT others(13): Show TTCTTTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0147 a0002c0002t0002g0147	1	420	0.0024	20	c.-83 others(29): Show c.-831_-830insTCTTTTTCTTTCTTTCTTTC	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		731		chr16	TogoVar
AQP9_chr15_58133381_58190911	58151944	T T	TTATGACA others(13): Show TTATGACAAGCTCTATTTGTC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	416	0.0024	20	c.111 others(39): Show c.111+13277_111+13296dupGCTCTATTTGTCTATGACAA	AQP9	ENSG00000103569.11	transcript	ENST00000219919.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18969.hp1 HG02717.hp2 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0009 a0001c0001t0001 a0002c0004t0009	a0001c0001t0001g0068 a0002c0004t0009g0148 a0001c0001t0001g0068 a0002c0004t0009g0148	2	312	0.0064	20	c.246 others(39): Show c.2461-1415_2461-1414insATATATTTTTTTTTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0020 a0001c0010t0001g0020	1	312	0.0032	20	c.246 others(39): Show c.2461-1415_2461-1414insATATATATATTTTTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0003 a0005c0015t0003	a0005c0015t0003g0166 a0005c0015t0003g0166	1	312	0.0032	20	c.246 others(39): Show c.2461-1415_2461-1414insATATATATATATTTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	312	0.0032	20	c.246 others(39): Show c.2461-1415_2461-1414insATATATATATATATTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp2 HG00438.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0158 a0001c0001t0001g0051 a0001c0001t0001g0158	2	312	0.0064	20	c.246 others(39): Show c.2461-1415_2461-1414insATATATATATATATATTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
ARAP1_chr11_72680069_72757408	72755306	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03225.hp1 NA18967.hp2 others(2): Show HG02738.hp2 HG03225.hp1 NA18967.hp2 NA18981.hp1 NA18999.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0004t0001 a0003c0005t0001 a0001c0001t0001 a0001c0004t0001 a0003c0005t0001	a0001c0001t0001g0036 a0001c0001t0001g0109 a0001c0004t0001g0049 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0109 a0001c0004t0001g0049 a0003c0005t0001g0029 a0003c0005t0001g0030	5	354	0.0141	20	c.-31 others(31): Show c.-3126_-3107dupAAAAAAAAAAAAAAAAAAAA	ARAP1	ENSG00000186635.16	transcript	ENST00000393609.8	protein_coding		2899		chr11	TogoVar
ARAP3_chr5_141648402_141687230	141655225	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0097 a0001c0011t0002g0097	1	416	0.0024	20	c.414 others(37): Show c.4149+117_4149+136dupGTGTGTGTGTGTGTGTGTGT	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	32/32			chr5	TogoVar
ARCN1_chr11_118567409_118608033	118581929	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02027.hp1 HG02056.hp2 others(3): Show HG00733.hp2 HG02027.hp1 HG02056.hp2 HG02165.hp2 HG04115.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0050 a0001c0002t0002g0071 a0001c0002t0002g0091 others(3): Show a0001c0002t0002g0050 a0001c0002t0002g0071 a0001c0002t0002g0091 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0010g0041	6	368	0.0163	20	c.267 others(35): Show c.267+423_267+424insCACACACACACACACACACA	ARCN1	ENSG00000095139.15	transcript	ENST00000264028.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARF4_chr3_57566363_57602344	57570219	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	1	358	0.0028	20	c.19 others(31): Show c.1992_*1993insAAACAAAAAAAAAAAAAAAA	ARF4	ENSG00000168374.11	transcript	ENST00000303436.11	protein_coding		1143		chr3	TogoVar
ARFGAP1_chr20_63267813_63294790	63274311	A A	ACCCCCCC others(13): Show ACCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0065 a0006c0010t0001g0065	1	342	0.0029	20	c.-4- others(35): Show c.-4-1249_-4-1248insCCCCCCCCCCCCCCCCCCCC	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGAP3_chr22_42791502_42862273	42859695	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0007 a0007c0010t0007	a0007c0010t0007g0015 a0007c0010t0007g0015	1	362	0.0028	20	c.-25 others(31): Show c.-2514_-2513insATATTTTTTTTTTTTTTTTT	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding		2423		chr22	TogoVar
ARFGEF1_chr8_67192658_67348781	67218199	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	208	0.0048	20	c.433 others(35): Show c.4339-62_4339-61insATATATATATATATATATAT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	30/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67218207	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0013 a0001c0001t0001g0020	2	208	0.0096	20	c.433 others(35): Show c.4339-89_4339-70dupATATATATATATATATATAT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	30/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67258818	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	208	0.0048	20	c.223 others(37): Show c.2236-548_2236-529dupGTGTGTGTGTGTGTGTGTGT	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	15/38			chr8	TogoVar
ARFGEF1_chr8_67192658_67348781	67339795	C C	CGGGGGGG others(13): Show CGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG04199.hp2 HG01978.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0189 a0001c0001t0001g0147 a0001c0001t0001g0189	2	208	0.0096	20	c.124 others(37): Show c.124+3368_124+3369insCCCCCCCCCCCCCCCCCCCC	ARFGEF1	ENSG00000066777.9	transcript	ENST00000262215.8	protein_coding	1/38			chr8	TogoVar
ARFGEF2_chr20_48916711_49041693	48950807	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18970.hp2 NA18979.hp2 NA18960.hp1 NA18970.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0198 a0001c0002t0001g0123 a0001c0002t0001g0310 a0001c0001t0002g0198 a0001c0002t0001g0123 a0001c0002t0001g0310	3	352	0.0085	20	c.277 others(35): Show c.277-515_277-514insTATATATATATATATATATA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48950809	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0294 a0001c0002t0001g0294	1	352	0.0028	20	c.277 others(35): Show c.277-513_277-512insTATATATATATATATATATA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48961112	T T	TAATAATA others(13): Show TAATAATAATAATAATAAATA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0284 a0001c0002t0001g0284	1	352	0.0028	20	c.839 others(37): Show c.839-2718_839-2717insAATAATAATAATAATAAATA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38			chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48963175	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01975.hp2 HG02148.hp1 others(16): Show HG00738.hp1 HG01975.hp2 HG02148.hp1 HG02155.hp1 HG02559.hp2 HG02895.hp1 HG03041.hp1 HG03471.hp2 HG03834.hp2 NA18948.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA19060.hp1 NA19063.hp2 NA19068.hp1 NA19068.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020	a0001c0001t0002g0009 a0001c0001t0002g0226 a0001c0001t0002g0248 others(16): Show a0001c0001t0002g0009 a0001c0001t0002g0226 a0001c0001t0002g0248 a0001c0001t0002g0263 a0001c0001t0002g0280 a0001c0001t0004g0321 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0011g0258 a0001c0001t0013g0320 a0001c0001t0020g0329	19	352	0.0540	20	c.839 others(35): Show c.839-641_839-640insAAAAAAAAAAAAAAAAAAAA	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38		INFO_REALIGN_3_PRIME	chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	49040526	G G	GGAGAATG others(13): Show GGAGAATGCTCAACGAGCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0148 a0001c0002t0012g0148	1	352	0.0028	20	c.73 others(31): Show c.7327_*7328insGAGAATGCTCAACGAGCAGT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding		3834		chr20	TogoVar
ARFGEF3_chr6_138156939_138349663	138157758	T T	TTAATTAA others(13): Show TTAATTAAAATTATAATTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG02615.hp2 others(1): Show HG01884.hp1 HG02559.hp2 HG02615.hp2 HG04184.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0034 a0002c0011 a0002c0012 others(1): Show a0001c0034 a0002c0011 a0002c0012 a0010c0032	a0001c0034t0049 a0002c0011t0046 a0002c0012t0001 others(1): Show a0001c0034t0049 a0002c0011t0046 a0002c0012t0001 a0010c0032t0016	a0001c0034t0049g0071 a0002c0011t0046g0066 a0002c0012t0001g0095 others(1): Show a0001c0034t0049g0071 a0002c0011t0046g0066 a0002c0012t0001g0095 a0010c0032t0016g0086	4	190	0.0211	20	c.-43 others(31): Show c.-4329_-4328insTAATTAAAATTATAATTAAA	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding		4180		chr6	TogoVar

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