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
APELA_chr4_164872178_164902527	164873342	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02071.hp2 NA18971.hp2 others(3): Show HG01884.hp2 HG02071.hp2 NA18971.hp2 NA18991.hp1 NA19001.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0020 others(3): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0020 a0001c0002t0001g0159 a0001c0002t0001g0194 a0001c0002t0004g0188	6	434	0.0138	-16	c.-39 others(27): Show c.-3989_-3974delGAAGGAAGGAAGGAAG		APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding					3835		chr4	TogoVar
APELA_chr4_164872178_164902527	164899656	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 NA18951.hp1 NA19088.hp2 HG02027.hp1 NA18951.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0002t0020 a0001c0001t0003 a0001c0002t0002 a0001c0002t0020	a0001c0001t0003g0088 a0001c0002t0002g0021 a0001c0002t0020g0166 a0001c0001t0003g0088 a0001c0002t0002g0021 a0001c0002t0020g0166	3	434	0.0069	-16	c.42 others(27): Show c.4243_*4258delAGAGAGAGAGAGAGAA		APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding					2130		chr4	TogoVar
APLP2_chr11_130064894_130149805	130092467	CCCGGCAC others(9): Show CCCGGCACCTCGGGAGG	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18943.hp1 NA18983.hp2 NA18941.hp1 NA18943.hp1 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0150 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0150 a0002c0002t0003g0181 a0002c0002t0003g0182	3	274	0.0110	-16	c.106 others(35): Show c.106-16958_106-16943delGCACCTCGGGAGGCCG		APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130105660	GTCTCTCT others(9): Show GTCTCTCTCTTTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	274	0.0037	-16	c.106 others(33): Show c.106-3760_106-3745delTTTCTCTCTCTCTCTC		APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA1_chr11_116830751_116842622	116831189	ATTTCTTT others(9): Show ATTTCTTTCTTTCTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00621.hp1 others(10): Show HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01257.hp1 HG02083.hp1 HG02132.hp2 HG02698.hp1 NA18953.hp1 NA18994.hp2 NA19079.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0010	13	448	0.0290	-16	c.46 others(27): Show c.4603_*4618delGAAAGAAAGAAAGAAA		APOA1	ENSG00000118137.10	transcript	ENST00000236850.5	protein_coding					4561		chr11	TogoVar
APOBEC1_chr12_7644400_7670908	7654372	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0311 a0003c0004t0001g0311	1	432	0.0023	-16	c.44+ others(29): Show c.44+217_44+232delAAAAAAAAAAAAAAAA		APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	2/4						chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7657043	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG02809.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0069 a0001c0002t0001g0072	2	432	0.0046	-16	c.17- others(31): Show c.17-2427_17-2412delACACACACACACACAC		APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4						chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7661487	TGATAGAT others(9): Show TGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG01192.hp2 others(32): Show HG00558.hp1 HG00741.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02129.hp1 HG02257.hp1 HG02809.hp1 HG03139.hp1 HG03654.hp1 HG03927.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18960.hp1 NA18971.hp1 NA18974.hp2 NA18980.hp2 NA18993.hp2 NA19004.hp1 NA19043.hp1 NA19058.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0004 a0001c0002 a0002c0001 a0003c0004	a0001c0002t0001 a0002c0001t0001 a0003c0004t0001 a0001c0002t0001 a0002c0001t0001 a0003c0004t0001	a0001c0002t0001g0057 a0001c0002t0001g0067 a0001c0002t0001g0069 others(32): Show a0001c0002t0001g0057 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0106 a0002c0001t0001g0074 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0089 a0002c0001t0001g0090 a0002c0001t0001g0091 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0110 a0002c0001t0001g0158 a0002c0001t0001g0366 a0002c0001t0001g0367 a0003c0004t0001g0280 a0003c0004t0001g0311 a0003c0004t0001g0312	35	432	0.0810	-16	c.16+ others(31): Show c.16+4354_16+4369delTATCTATCTATCTATC		APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4						chr12	TogoVar
APOBEC1_chr12_7644400_7670908	7665752	GACACACA others(9): Show GACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp1 NA19056.hp2 HG01074.hp2 HG01496.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0024 a0001c0002t0001g0025 a0002c0001t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0002c0001t0001g0023	3	432	0.0069	-16	c.16+ others(28): Show c.16+89_16+104delGTGTGTGTGTGTGTGT		APOBEC1	ENSG00000111701.7	transcript	ENST00000229304.5	protein_coding	1/4						chr12	TogoVar
APOBEC4_chr1_183641275_183658316	183643262	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	378	0.0027	-16	c.44 others(27): Show c.4400_*4415delTAAATAAATAAATAAA		APOBEC4	ENSG00000173627.8	transcript	ENST00000308641.6	protein_coding					3012		chr1	TogoVar
APOC1_chr19_44909608_44924346	44910674	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 NA18986.hp2 HG02293.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	2	436	0.0046	-16	c.-40 others(27): Show c.-4079_-4064delTTTTTTTTTTTTTTTT		APOC1	ENSG00000130208.10	transcript	ENST00000592535.6	protein_coding					3933		chr19	TogoVar
APOC2_chr19_44941051_44954565	44946191	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01943.hp2 HG01975.hp2 HG01168.hp2 HG01943.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	398	0.0075	-16	c.-14 others(31): Show c.-14+145_-14+160delTGTGTGTGTGTGTGTG		APOC2	ENSG00000234906.11	transcript	ENST00000252490.7	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
APOC2_chr19_44941051_44954565	44954345	ATGCAGTG others(9): Show ATGCAGTGAGCCGAGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	398	0.0025	-16	c.50 others(27): Show c.5097_*5112delTGCAGTGAGCCGAGGT		APOC2	ENSG00000234906.11	transcript	ENST00000252490.7	protein_coding					4781		chr19	TogoVar
APOC3_chr11_116824907_116838072	116831189	ATTTCTTT others(9): Show ATTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00621.hp1 others(10): Show HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG01257.hp1 HG02083.hp1 HG02132.hp1 HG02698.hp1 NA18953.hp1 NA18994.hp1 NA19079.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0011 a0001c0002t0001g0077 a0001c0002t0001g0106 others(1): Show a0001c0002t0001g0011 a0001c0002t0001g0077 a0001c0002t0001g0106 a0001c0002t0002g0088	13	450	0.0289	-16	c.179 others(31): Show c.179+346_179+361delTTTCTTTCTTTCTTTC		APOC3	ENSG00000110245.12	transcript	ENST00000227667.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr11	TogoVar
APOC4_chr19_44937237_44950496	44946191	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01943.hp2 HG01975.hp2 HG01168.hp1 HG01943.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0002 a0002c0002t0001g0010	3	398	0.0075	-16	c.88 others(25): Show c.887_*902delTGTGTGTGTGTGTGTG		APOC4	ENSG00000267467.4	transcript	ENST00000592954.2	protein_coding					696		chr19	TogoVar
APOD_chr3_195563705_195588940	195569786	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03704.hp2 HG03017.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	438	0.0046	-16	c.335 others(31): Show c.335-667_335-652delAAAAAAAAAAAAAAAA		APOD	ENSG00000189058.9	transcript	ENST00000343267.8	protein_coding	4/4						chr3	TogoVar
APOE_chr19_44900796_44914393	44910674	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA18986.hp1 HG02293.hp2 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	2	424	0.0047	-16	c.14 others(27): Show c.1425_*1440delTTTTTTTTTTTTTTTT		APOE	ENSG00000130203.10	transcript	ENST00000252486.9	protein_coding					1282		chr19	TogoVar
APOH_chr17_66207033_66234415	66209875	ACACACAC others(9): Show ACACACACACACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02486.hp1 others(1): Show HG01243.hp2 HG01346.hp1 HG02486.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0011t0002 a0002c0002t0002 a0002c0011t0002	a0002c0002t0002g0097 a0002c0002t0002g0112 a0002c0011t0002g0013 a0002c0002t0002g0097 a0002c0002t0002g0112 a0002c0011t0002g0013	4	386	0.0104	-16	c.22 others(27): Show c.2242_*2257delCGTGTGTGTGTGTGTG		APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding					2157		chr17	TogoVar
APOL2_chr22_36221209_36244527	36235744	GGTGGGTG others(9): Show GGTGGGTGGGTGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01891.hp1 HG02622.hp2 others(3): Show HG01515.hp2 HG01891.hp1 HG02622.hp2 HG02965.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0120 a0001c0001t0012g0013 a0001c0001t0003g0120 a0001c0001t0012g0013	6	384	0.0156	-16	c.-13 others(35): Show c.-133-2305_-133-2290delACACCCACCCACCCAC		APOL2	ENSG00000128335.14	transcript	ENST00000358502.10	protein_coding	1/4						chr22	TogoVar
APOL4_chr22_36184128_36206809	36195764	TCTCTCTC others(9): Show TCTCTCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0121 a0002c0003t0021g0121	1	434	0.0023	-16	c.83- others(29): Show c.83-343_83-328delTGTGAGAGAGAGAGAG		APOL4	ENSG00000100336.18	transcript	ENST00000683024.1	protein_coding	2/3						chr22	TogoVar
APOL6_chr22_35643446_35673404	35646224	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-16	c.-24 others(27): Show c.-2446_-2431delTGTGTGTGTGTGTGTG		APOL6	ENSG00000221963.6	transcript	ENST00000409652.5	protein_coding					2221		chr22	TogoVar
APOO_chrX_23828353_23912938	23829567	AAAAAAAA others(9): Show AAAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	269	0.0037	-16	c.40 others(27): Show c.4059_*4074delATATATATATTTTTTT		APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding					3785		chrX	TogoVar
APOO_chrX_23828353_23912938	23829569	AAAAAATA others(9): Show AAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	269	0.0037	-16	c.40 others(27): Show c.4057_*4072delATATATATATATTTTT		APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding					3783		chrX	TogoVar
APOO_chrX_23828353_23912938	23829590	ATATATAT others(9): Show ATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	269	0.0037	-16	c.40 others(27): Show c.4036_*4051delCATATATATATATATA		APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding					3762		chrX	TogoVar
APPBP2_chr17_60438158_60531242	60495439	ATTATTTA others(9): Show ATTATTTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp1 HG03471.hp1 HG02965.hp2 HG03225.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0002c0002t0025 a0001c0001t0005 a0001c0001t0006 a0002c0002t0025	a0001c0001t0005g0063 a0001c0001t0006g0045 a0002c0002t0025g0030 a0001c0001t0005g0063 a0001c0001t0006g0045 a0002c0002t0025g0030	3	144	0.0208	-16	c.228 others(31): Show c.228-838_228-823delATAAATAAATAAATAA		APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	2/12						chr17	TogoVar
APPBP2_chr17_60438158_60531242	60518346	CGTGTGTG others(9): Show CGTGTGTGCGTGCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03041.hp2 NA18522.hp2 others(1): Show HG02886.hp1 HG03041.hp2 NA18522.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0020 a0002c0003t0007 a0002c0003t0010 a0002c0002t0020 a0002c0003t0007 a0002c0003t0010	a0002c0002t0020g0017 a0002c0003t0007g0008 a0002c0003t0010g0009 others(1): Show a0002c0002t0020g0017 a0002c0003t0007g0008 a0002c0003t0010g0009 a0002c0003t0010g0013	4	144	0.0278	-16	c.138 others(33): Show c.138+7432_138+7447delACACGCACGCACACAC		APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	1/12						chr17	TogoVar
APPL2_chr12_105168300_105241174	105200831	CGTATGTA others(9): Show CGTATGTATGTATGTAT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	392	0.0026	-16	c.705 others(33): Show c.705-1316_705-1301delATACATACATACATAC		APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/20						chr12	TogoVar
APPL2_chr12_105168300_105241174	105200852	GTATGTAT others(9): Show GTATGTATGTATGTATC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00621.hp2 others(21): Show HG00423.hp1 HG00438.hp1 HG00621.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01952.hp2 HG02148.hp2 HG02293.hp2 HG02735.hp1 NA18747.hp2 NA18941.hp2 NA18950.hp1 NA18951.hp1 NA18975.hp1 NA18991.hp2 NA19000.hp1 NA19010.hp1 NA19012.hp1 NA19057.hp1 NA19076.hp2 NA19085.hp2 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0012 a0002c0002t0002g0013 others(17): Show a0002c0002t0002g0003 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0041 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0055 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0207 a0002c0002t0002g0217	24	392	0.0612	-16	c.705 others(33): Show c.705-1337_705-1322delGATACATACATACATA		APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/20						chr12	TogoVar
APPL2_chr12_105168300_105241174	105200864	GTATCTAT others(9): Show GTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0193 a0001c0003t0015g0193	1	392	0.0026	-16	c.705 others(33): Show c.705-1349_705-1334delGATAGATAGATAGATA		APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/20						chr12	TogoVar
APPL2_chr12_105168300_105241174	105203010	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	392	0.0026	-16	c.704 others(31): Show c.704+677_704+692delGTGTGTGTGTGTGTGT		APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	9/20						chr12	TogoVar
AQP11_chr11_77584953_77615356	77587701	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(58): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01255.hp1 HG01358.hp2 HG01515.hp2 HG01928.hp1 HG02015.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04228.hp2 NA18949.hp2 NA18955.hp2 NA18960.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18994.hp2 NA19074.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0010 a0002c0002 others(3): Show a0001c0001 a0001c0010 a0002c0002 a0004c0006 a0005c0007 a0007c0008	a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 a0002c0002t0002 a0004c0006t0001 a0005c0007t0001 a0007c0008t0002	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0046 others(46): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0088 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0235 a0001c0001t0003g0237 a0001c0010t0001g0238 a0002c0002t0002g0009 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0243 a0002c0002t0002g0250 a0002c0002t0002g0253 a0002c0002t0002g0257 a0004c0006t0001g0090 a0005c0007t0001g0202 a0007c0008t0002g0232	61	432	0.1412	-16	c.-22 others(27): Show c.-2291_-2276delAAAAAAAAAAAAAAAA		AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding					2251		chr11	TogoVar
AQP11_chr11_77584953_77615356	77589764	GCGCCTCC others(9): Show GCGCCTCCCCGCCTCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG01884.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	432	0.0046	-16	c.-22 others(25): Show c.-228_-213delCGCCTCCCCGCCTCCC		AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding					188		chr11	TogoVar
AQP11_chr11_77584953_77615356	77596537	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG01884.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0187 a0001c0001t0001g0188	2	432	0.0046	-16	c.619 others(33): Show c.619+5937_619+5952delATATATATATATATAT		AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
AQP7_chr9_33378191_33407568	33405453	CACACACA others(9): Show CACACACACACACACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01891.hp1 HG01943.hp1 others(7): Show HG00323.hp2 HG01891.hp1 HG01943.hp1 HG02083.hp1 HG03831.hp1 NA18956.hp2 NA19000.hp2 NA19001.hp1 NA19011.hp1 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0004t0003	a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0188 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0188 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0003g0189 a0003c0004t0003g0011 a0003c0004t0003g0031	10	438	0.0228	-16	c.-31 others(27): Show c.-3122_-3107delCTGTGTGTGTGTGTGT		AQP7	ENSG00000165269.13	transcript	ENST00000297988.6	protein_coding					2886		chr9	TogoVar
AQP8_chr16_25211947_25233932	25216076	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG01071.hp2 others(6): Show HG00733.hp1 HG01070.hp1 HG01071.hp2 HG02738.hp2 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0001c0001t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0113 a0002c0002t0002g0011 a0002c0002t0003g0013	9	420	0.0214	-16	c.-96 others(25): Show c.-969_-954delTTTCTTTCTTTCTTTC		AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding					870		chr16	TogoVar
AQP9_chr15_58133381_58190911	58187422	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02976.hp1 HG03098.hp2 others(8): Show HG02451.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0032	a0001c0001t0003g0159 a0001c0001t0004g0079 a0001c0001t0004g0080 others(8): Show a0001c0001t0003g0159 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0223 a0001c0001t0004g0285 a0001c0001t0004g0300 a0001c0001t0004g0331 a0001c0001t0016g0190 a0001c0001t0032g0074	11	416	0.0264	-16	c.32 others(27): Show c.3288_*3303delTGTGTGTGTGTGTGTG		AQP9	ENSG00000103569.11	transcript	ENST00000219919.9	protein_coding					1512		chr15	TogoVar
AQR_chr15_34846782_34974742	34893607	GCACACAC others(9): Show GCACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0044 a0001c0008t0044	a0001c0008t0044g0175 a0001c0008t0044g0175	1	312	0.0032	-16	c.257 others(31): Show c.2571+40_2571+55delTGTGTGTGTGTGTGTG		AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	23/34						chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	312	0.0032	-16	c.246 others(35): Show c.2461-1430_2461-1415delATATATATATATATAT		AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34						chr15	TogoVar
AQR_chr15_34846782_34974742	34930818	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0234 a0001c0001t0065g0234	1	312	0.0032	-16	c.901 others(31): Show c.901-463_901-448delAAAAAAAAAAAAAAAA		AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	11/34						chr15	TogoVar
AQR_chr15_34846782_34974742	34930834	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19070.hp1 HG02040.hp1 NA19070.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0021 a0001c0001 a0008c0021	a0001c0001t0002 a0008c0021t0001 a0001c0001t0002 a0008c0021t0001	a0001c0001t0002g0210 a0008c0021t0001g0165 a0001c0001t0002g0210 a0008c0021t0001g0165	2	312	0.0064	-16	c.901 others(31): Show c.901-479_901-464delCAAAAAAAAAAAAAAA		AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	11/34						chr15	TogoVar
AQR_chr15_34846782_34974742	34943444	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0032 a0001c0020t0032	a0001c0020t0032g0006 a0001c0020t0032g0006	1	312	0.0032	-16	c.471 others(31): Show c.471+828_471+843delATTTATTTATTTATTT		AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	6/34						chr15	TogoVar
ARAF_chrX_47556205_47576908	47562482	TCAGAAAA others(9): Show TCAGAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19002.hp1 NA19056.hp1 NA18961.hp1 NA19002.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0100 a0001c0001t0001g0022 a0001c0001t0001g0100	3	318	0.0094	-16	c.-59 others(31): Show c.-59-410_-59-395delCAGAAAAAAAAAAAAA		ARAF	ENSG00000078061.14	transcript	ENST00000377045.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
ARAP3_chr5_141648402_141687230	141658466	AGGGTTGG others(9): Show AGGGTTGGGGACACCTG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18965.hp2 NA18965.hp2	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0001 a0021c0032t0001	a0021c0032t0001g0125 a0021c0032t0001g0125	1	416	0.0024	-16	c.341 others(27): Show c.3412-3_3424delCAGGTGTCCCCAACCC	p.Val others(6): Show p.Val1138fs	ARAP3	ENSG00000120318.16	transcript	ENST00000239440.9	protein_coding	25/33	3499/5258	3412/4635	1138/1544			chr5	TogoVar
ARCN1_chr11_118567409_118608033	118578164	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18612.hp1 HG02055.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0171 a0001c0001t0001g0130 a0001c0001t0001g0171	2	368	0.0054	-16	c.4-3 others(29): Show c.4-3046_4-3031delTAAATAAATAAATAAA		ARCN1	ENSG00000095139.15	transcript	ENST00000264028.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
AREL1_chr14_74656256_74718080	74699364	TGTGTGTG others(9): Show TGTGTGTGTGTGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01346.hp2 others(4): Show HG00280.hp2 HG00741.hp1 HG01346.hp2 HG01496.hp1 HG02615.hp1 HG03490.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0114 a0001c0001t0001g0115 others(4): Show a0001c0001t0001g0074 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0145	7	374	0.0187	-16	c.-33 others(35): Show c.-333-7052_-333-7037delTCTCACACACACACAC		AREL1	ENSG00000119682.18	transcript	ENST00000356357.9	protein_coding	1/19						chr14	TogoVar
AREL1_chr14_74656256_74718080	74712062	AAAAAAGA others(9): Show AAAAAAGAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19030.hp1 NA19043.hp2 HG02145.hp2 NA19030.hp1 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0015 a0003c0003t0011g0153 a0003c0003t0011g0015 a0003c0003t0011g0153	3	374	0.0080	-16	c.-33 others(33): Show c.-334+855_-334+870delCTTTTTTTTTCTTTTT		AREL1	ENSG00000119682.18	transcript	ENST00000356357.9	protein_coding	1/19						chr14	TogoVar
ARF3_chr12_48930723_48962487	48932259	ATATTTTT others(9): Show ATATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG04199.hp1 NA19009.hp2 others(3): Show HG00609.hp1 HG04199.hp1 NA19009.hp2 NA19011.hp1 NA19062.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0044 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0002g0001	6	348	0.0172	-16	c.66 others(27): Show c.6672_*6687delAAAAAAAAAAAAAATA		ARF3	ENSG00000134287.10	transcript	ENST00000256682.9	protein_coding					3463		chr12	TogoVar
ARF3_chr12_48930723_48962487	48932261	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01123.hp1 others(3): Show HG00280.hp1 HG01070.hp2 HG01123.hp1 NA18948.hp1 NA19065.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0050 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0125 a0001c0001t0015g0043	6	348	0.0172	-16	c.66 others(27): Show c.6670_*6685delAAAAAAAAAAAAAAAA		ARF3	ENSG00000134287.10	transcript	ENST00000256682.9	protein_coding					3461		chr12	TogoVar
ARFGAP1_chr20_63267813_63294790	63294184	CGTGCAGG others(9): Show CGTGCAGGGGACTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	342	0.0029	-16	c.63 others(27): Show c.6312_*6327delGTGCAGGGGACTGGGG		ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding					4395		chr20	TogoVar
ARFGAP2_chr11_47159301_47181879	47174367	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18957.hp2 NA18960.hp1 others(3): Show HG02572.hp2 NA18957.hp2 NA18960.hp1 NA18970.hp1 NA18974.hp1 NA19082.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0010 a0001c0001 a0002c0002 a0009c0010	a0001c0001t0002 a0002c0002t0003 a0009c0010t0001 a0001c0001t0002 a0002c0002t0003 a0009c0010t0001	a0001c0001t0002g0033 a0001c0001t0002g0085 a0001c0001t0002g0086 others(2): Show a0001c0001t0002g0033 a0001c0001t0002g0085 a0001c0001t0002g0086 a0002c0002t0003g0090 a0009c0010t0001g0147	6	374	0.0160	-16	c.481 others(31): Show c.481-543_481-528delAAAAAAAAAAAAAAAA		ARFGAP2	ENSG00000149182.15	transcript	ENST00000524782.6	protein_coding	5/15						chr11	TogoVar

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