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
APBB2_chr4_40805027_41219542	40857279	T T	TAGGTGCT others(6): Show TAGGTGCTCCCGCC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0045 a0002c0001t0045	a0002c0001t0045g0040 a0002c0001t0045g0040	1	192	0.0052	13	c.153 others(34): Show c.1530-26715_1530-26703dupGGCGGGAGCACCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40948890	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02630.hp2 HG02809.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0005 a0002c0005t0001 a0002c0005t0005	a0002c0005t0001g0100 a0002c0005t0005g0076 a0002c0005t0001g0100 a0002c0005t0005g0076	2	192	0.0104	13	c.836 others(30): Show c.836-3830_836-3818dupTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40972445	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00597.hp1 others(36): Show HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00733.hp2 HG00735.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG02015.hp1 HG02015.hp2 HG02109.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02738.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG04204.hp2 NA18522.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp2 NA18983.hp2 NA18993.hp1 NA18999.hp1 NA19007.hp2 NA19065.hp1 NA19068.hp2 NA19087.hp1 NA19087.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0008 a0002c0009	a0001c0002t0002 a0001c0002t0017 a0001c0003t0003 others(24): Show a0001c0002t0002 a0001c0002t0017 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0012 a0001c0004t0020 a0001c0004t0021 a0001c0004t0039 a0001c0004t0052 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0005 a0002c0001t0006 a0002c0001t0007 a0002c0001t0008 a0002c0001t0014 a0002c0001t0037 a0002c0001t0042 a0002c0001t0045 a0002c0001t0047 a0002c0001t0057 a0002c0008t0046 a0002c0009t0059	a0001c0002t0002g0122 a0001c0002t0017g0094 a0001c0002t0017g0095 others(36): Show a0001c0002t0002g0122 a0001c0002t0017g0094 a0001c0002t0017g0095 a0001c0003t0003g0136 a0001c0004t0001g0121 a0001c0004t0001g0181 a0001c0004t0002g0112 a0001c0004t0002g0116 a0001c0004t0002g0192 a0001c0004t0003g0111 a0001c0004t0012g0001 a0001c0004t0020g0036 a0001c0004t0021g0092 a0001c0004t0039g0180 a0001c0004t0052g0093 a0002c0001t0001g0032 a0002c0001t0001g0037 a0002c0001t0001g0059 a0002c0001t0001g0062 a0002c0001t0001g0065 a0002c0001t0001g0075 a0002c0001t0001g0166 a0002c0001t0002g0035 a0002c0001t0003g0123 a0002c0001t0003g0151 a0002c0001t0004g0102 a0002c0001t0004g0191 a0002c0001t0005g0152 a0002c0001t0006g0146 a0002c0001t0007g0177 a0002c0001t0008g0156 a0002c0001t0014g0063 a0002c0001t0037g0126 a0002c0001t0042g0030 a0002c0001t0045g0040 a0002c0001t0047g0057 a0002c0001t0057g0074 a0002c0008t0046g0090 a0002c0009t0059g0182	39	192	0.2031	13	c.836 others(32): Show c.836-27373_836-27372insTATTTATTTATTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40972445	T T	TAAATAAA others(6): Show TAAATAAATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0040 a0002c0001t0040	a0002c0001t0040g0145 a0002c0001t0040g0145	1	192	0.0052	13	c.836 others(32): Show c.836-27373_836-27372insTATATATTTATTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40975753	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0042 a0002c0001t0042	a0002c0001t0042g0030 a0002c0001t0042g0030	1	192	0.0052	13	c.836 others(32): Show c.836-30681_836-30680insGTGTGTGTGTGTG	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982221	G G	GAAAAGAA others(6): Show GAAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03491.hp1 HG03540.hp2 HG02965.hp2 HG03491.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0004 a0002c0001t0001 a0002c0001t0009 a0001c0004t0004 a0002c0001t0001 a0002c0001t0009	a0001c0004t0004g0044 a0002c0001t0001g0117 a0002c0001t0009g0064 a0001c0004t0004g0044 a0002c0001t0001g0117 a0002c0001t0009g0064	3	192	0.0156	13	c.835 others(32): Show c.835+31361_835+31362insTTTTCTTTCTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40982400	G G	GGAAAGGA others(6): Show GGAAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG02257.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0002c0005t0028 a0001c0003t0001 a0002c0005t0028	a0001c0003t0001g0164 a0002c0005t0028g0012 a0001c0003t0001g0164 a0002c0005t0028g0012	2	192	0.0104	13	c.835 others(32): Show c.835+31182_835+31183insTTTCTTTCCTTTC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40991010	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19056.hp2 NA19066.hp1 NA18993.hp2 NA19056.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0017 a0001c0002t0002 a0001c0002t0011 a0001c0002t0017	a0001c0002t0002g0119 a0001c0002t0011g0009 a0001c0002t0017g0120 a0001c0002t0002g0119 a0001c0002t0011g0009 a0001c0002t0017g0120	3	192	0.0156	13	c.835 others(32): Show c.835+22572_835+22573insAAAAAAAAAAAAA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41216419	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0032 a0002c0001t0001g0032	1	192	0.0052	13	c.-24 others(24): Show c.-2444_-2432dupCCCCCCCCCCCCC	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding		1878		chr4	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CCGGGGGG others(6): Show CCGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02622.hp2 others(1): Show HG02257.hp1 HG02280.hp1 HG02622.hp2 HG02922.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0007 others(1): Show a0001c0001 a0002c0002 a0003c0007 a0005c0004	a0001c0001t0001 a0002c0002t0002 a0003c0007t0006 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0007t0006 a0005c0004t0003	a0001c0001t0001g0280 a0002c0002t0002g0238 a0003c0007t0006g0258 others(1): Show a0001c0001t0001g0280 a0002c0002t0002g0238 a0003c0007t0006g0258 a0005c0004t0003g0239	4	350	0.0114	13	c.120 others(28): Show c.1208-70_1208-69insCGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14			chr19	TogoVar
APC2_chr19_1445121_1478244	1457895	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03471.hp1 NA18982.hp2 HG02683.hp2 HG03471.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0056 a0002c0002 a0001c0001 a0001c0056 a0002c0002	a0001c0001t0001 a0001c0056t0001 a0002c0002t0002 a0001c0001t0001 a0001c0056t0001 a0002c0002t0002	a0001c0001t0001g0256 a0001c0056t0001g0229 a0002c0002t0002g0181 a0001c0001t0001g0256 a0001c0056t0001g0229 a0002c0002t0002g0181	3	350	0.0086	13	c.120 others(28): Show c.1208-67_1208-66insGGGGGGGGGGGGG	APC2	ENSG00000115266.12	transcript	ENST00000590469.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
APCDD1L_chr20_58454101_58520399	58456235	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0272 a0004c0004t0001g0272	1	376	0.0027	13	c.45 others(24): Show c.4554_*4555insAAAAAAAAAAAAA	APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding		2865		chr20	TogoVar
APCDD1_chr18_10449635_10494949	10464311	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	422	0.0024	13	c.59- others(28): Show c.59-4158_59-4157insCACACACACACAC	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4			chr18	TogoVar
APC_chr5_112732885_112851239	112734795	T T	TTTTTGTG others(6): Show TTTTTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0003 a0001c0002t0013g0003	1	294	0.0034	13	c.-31 others(24): Show c.-3149_-3148insTTTTGTGTGTGTG	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding		3089		chr5	TogoVar
APC_chr5_112732885_112851239	112836165	T T	TTCCCCCC others(6): Show TTCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	294	0.0034	13	c.195 others(32): Show c.1958+1000_1958+1001insTCCCCCCCCCCCC	APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	15/15			chr5	TogoVar
APEH_chr3_49669351_49688971	49673087	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03490.hp2 HG03492.hp1 others(2): Show HG02257.hp2 HG03490.hp2 HG03492.hp1 HG04228.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	5	318	0.0157	13	c.-13 others(24): Show c.-1315_-1314insTTTTTTTTTTTTT	APEH	ENSG00000164062.13	transcript	ENST00000296456.10	protein_coding		1263		chr3	TogoVar
APELA_chr4_164872178_164902527	164878196	A A	AAGAAGAA others(6): Show AAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0203 a0001c0003t0017g0203	1	434	0.0023	13	c.77- others(26): Show c.77-723_77-722insGAAGAAAGAAAGA	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
APELA_chr4_164872178_164902527	164899726	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02630.hp2 others(6): Show HG02109.hp1 HG02486.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0023 a0001c0002t0004 others(1): Show a0001c0001t0004 a0001c0001t0023 a0001c0002t0004 a0001c0002t0005	a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 others(5): Show a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0283 a0001c0001t0023g0098 a0001c0002t0004g0192 a0001c0002t0005g0042 a0001c0002t0005g0214	9	434	0.0207	13	c.43 others(24): Show c.4312_*4313insGAAAGAAAGAAAG	APELA	ENSG00000248329.6	transcript	ENST00000507152.6	protein_coding		2200		chr4	TogoVar
APLF_chr2_68462585_68585162	68525742	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03516.hp1 HG06807.hp2 others(2): Show HG03453.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0011t0002 a0002c0002t0002 a0002c0011t0002	a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0039 others(2): Show a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0039 a0002c0002t0002g0049 a0002c0011t0002g0040	5	176	0.0284	13	c.623 others(28): Show c.623-306_623-294dupTTTTTTTTTTTTT	APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
APLP2_chr11_130064894_130149805	130067080	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02970.hp2 HG02976.hp2 others(1): Show HG02258.hp1 HG02970.hp2 HG02976.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0003c0003t0005 a0001c0001t0002 a0001c0001t0005 a0003c0003t0005	a0001c0001t0002g0191 a0001c0001t0002g0233 a0001c0001t0005g0235 others(1): Show a0001c0001t0002g0191 a0001c0001t0002g0233 a0001c0001t0005g0235 a0003c0003t0005g0238	4	274	0.0146	13	c.-28 others(24): Show c.-2898_-2897insTTTTTTTTTTTTT	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding		2813		chr11	TogoVar
APLP2_chr11_130064894_130149805	130083026	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	274	0.0037	13	c.105 others(32): Show c.105+12959_105+12971dupTTTTTTTTTTTTT	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOA4_chr11_116815700_116828304	116818265	A A	ATTATATA others(6): Show ATTATATATGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	462	0.0022	13	c.26 others(24): Show c.2601_*2602insATTCCATATATAA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2434		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818426	A A	ATATATAT others(6): Show ATATATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00597.hp2 others(34): Show HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG01192.hp1 HG01496.hp1 HG01993.hp2 HG02071.hp1 HG02132.hp1 HG02155.hp2 HG02809.hp2 HG03041.hp1 HG03239.hp1 HG03453.hp2 NA18522.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18953.hp2 NA18964.hp1 NA18972.hp1 NA18980.hp1 NA18984.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19064.hp1 NA19065.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	37	462	0.0801	13	c.24 others(24): Show c.2440_*2441insATTCATATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2273		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818503	A A	ATATATAT others(6): Show ATATATATATGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	462	0.0022	13	c.23 others(24): Show c.2363_*2364insATTCATATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2196		chr11	TogoVar
APOA4_chr11_116815700_116828304	116818630	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	1	462	0.0022	13	c.22 others(24): Show c.2236_*2237insAAAAAAAAAAAAA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2069		chr11	TogoVar
APOA4_chr11_116815700_116828304	116824770	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	462	0.0022	13	c.-15 others(24): Show c.-1580_-1579insATATATATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		1467		chr11	TogoVar
APOBEC3G_chr22_39072275_39092743	39075126	G G	GGTTTTTT others(6): Show GGTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	13	c.-22 others(24): Show c.-2236_-2235insGTTTTTTTTTTTT	APOBEC3G	ENSG00000239713.9	transcript	ENST00000407997.4	protein_coding		2148		chr22	TogoVar
APOBEC4_chr1_183641275_183658316	183650254	T T	TTCTTTAA others(6): Show TTCTTTAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01081.hp1 others(20): Show HG00423.hp1 HG00423.hp2 HG01081.hp1 HG02055.hp1 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02486.hp1 HG02523.hp2 HG02622.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp2 HG03225.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG04228.hp1 NA18612.hp1 NA18977.hp2 NA18988.hp1 NA19078.hp2 NA21309.hp1	a0003 a0006 a0003 a0006	a0003c0004 a0006c0013 a0003c0004 a0006c0013	a0003c0004t0003 a0003c0004t0009 a0003c0004t0021 others(1): Show a0003c0004t0003 a0003c0004t0009 a0003c0004t0021 a0006c0013t0003	a0003c0004t0003g0005 a0003c0004t0003g0055 a0003c0004t0003g0056 others(5): Show a0003c0004t0003g0005 a0003c0004t0003g0055 a0003c0004t0003g0056 a0003c0004t0003g0058 a0003c0004t0009g0022 a0003c0004t0009g0053 a0003c0004t0021g0057 a0006c0013t0003g0054	23	378	0.0609	13	c.-30 others(30): Show c.-30-1444_-30-1443insTTTTTTTTAAAGA	APOBEC4	ENSG00000173627.8	transcript	ENST00000308641.6	protein_coding	1/1			chr1	TogoVar
APOC1_chr19_44909608_44924346	44916137	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02630.hp1 NA18987.hp2 others(1): Show HG02083.hp2 HG02630.hp1 NA18987.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0092 a0001c0001t0001g0136 a0001c0001t0001g0038 a0001c0001t0001g0092 a0001c0001t0001g0136	4	436	0.0092	13	c.59- others(24): Show c.59-46_59-34dupAAAAAAAAAAAAA	APOC1	ENSG00000130208.10	transcript	ENST00000592535.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
APOC4_chr19_44937237_44950496	44938194	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01952.hp2 HG02055.hp2 others(3): Show HG01257.hp2 HG01952.hp2 HG02055.hp2 HG02273.hp1 HG02300.hp2 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0001 a0003c0003t0003	a0001c0001t0001g0037 a0003c0003t0001g0004 a0003c0003t0003g0007 a0001c0001t0001g0037 a0003c0003t0001g0004 a0003c0003t0003g0007	6	398	0.0151	13	c.-40 others(24): Show c.-4084_-4083insTTTTTTTTTTTTT	APOC4	ENSG00000267467.4	transcript	ENST00000592954.2	protein_coding		4042		chr19	TogoVar
APOD_chr3_195563705_195588940	195586554	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02622.hp1 HG03225.hp2 others(3): Show HG00423.hp1 HG02622.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0210 a0001c0001t0002g0013 a0001c0001t0003g0106 others(3): Show a0001c0001t0001g0210 a0001c0001t0002g0013 a0001c0001t0003g0106 a0001c0001t0003g0171 a0001c0001t0003g0179 a0001c0001t0005g0107	6	438	0.0137	13	c.-27 others(24): Show c.-2712_-2711insAAAAAAAAAAAAA	APOD	ENSG00000189058.9	transcript	ENST00000343267.8	protein_coding		2615		chr3	TogoVar
APOF_chr12_56355568_56367857	56363211	A A	AAAAATAT others(6): Show AAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG02559.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0002	2	278	0.0072	13	c.-46 others(22): Show c.-467_-466insATATATATATTTT	APOF	ENSG00000175336.10	transcript	ENST00000398189.4	protein_coding		355		chr12	TogoVar
APOH_chr17_66207033_66234415	66221416	G G	GAAGGAAG others(6): Show GAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00609.hp2 others(44): Show HG00408.hp1 HG00423.hp2 HG00609.hp2 HG01074.hp2 HG01243.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02970.hp2 HG02976.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03927.hp1 NA18612.hp2 NA18953.hp1 NA18960.hp2 NA18967.hp2 NA18980.hp2 NA18984.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp1 NA19030.hp2 NA19056.hp2 NA19080.hp1 NA19080.hp2 NA19090.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0009c0009	a0001c0001t0001 a0002c0002t0001 a0005c0005t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0005c0005t0002 a0009c0009t0001	a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0028 others(41): Show a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0322 a0002c0002t0001g0055 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0135 a0002c0002t0001g0149 a0002c0002t0001g0260 a0005c0005t0002g0115 a0005c0005t0002g0118 a0005c0005t0002g0119 a0005c0005t0002g0120 a0009c0009t0001g0081	47	386	0.1218	13	c.416 others(28): Show c.416-687_416-675dupTCCTTCCTTCCTT	APOH	ENSG00000091583.11	transcript	ENST00000205948.11	protein_coding	4/7			chr17	TogoVar
APOL1_chr22_36248133_36272525	36271072	G G	GGGGTGGT others(6): Show GGGGTGGTGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	414	0.0024	13	c.50 others(24): Show c.5039_*5040insGGGTGGTGAGTGT	APOL1	ENSG00000100342.22	transcript	ENST00000397278.8	protein_coding		3548		chr22	TogoVar
APOM_chr6_31650894_31663210	31652320	A A	ACACACAC others(6): Show ACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	419	0.0024	13	c.-36 others(24): Show c.-3647_-3646insCACACACACACAC	APOM	ENSG00000204444.11	transcript	ENST00000375916.4	protein_coding		3573		chr6	TogoVar
APOOL_chrX_84998877_85098315	85005394	A A	ACGCCCCC others(6): Show ACGCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0214 a0001c0001t0108g0214	1	256	0.0039	13	c.15+ others(28): Show c.15+1468_15+1469insGCCCCCCCCCCCC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85008535	T T	TTTGTGTG others(6): Show TTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0247 a0001c0001t0006g0247	1	256	0.0039	13	c.15+ others(28): Show c.15+4609_15+4610insTGTGTGTGTGTGT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
APOO_chrX_23828353_23912938	23829563	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0133 a0001c0001t0005g0133	1	269	0.0037	13	c.40 others(24): Show c.4078_*4079insATATATATATATA	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3789		chrX	TogoVar
APOO_chrX_23828353_23912938	23829569	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	269	0.0037	13	c.40 others(24): Show c.4072_*4073insATATATATATATA	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding		3783		chrX	TogoVar
APOO_chrX_23828353_23912938	23849583	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02451.hp2 HG02630.hp1 others(13): Show HG02071.hp1 HG02451.hp2 HG02630.hp1 HG02683.hp2 HG03486.hp2 HG04184.hp2 NA18943.hp1 NA18952.hp1 NA18965.hp1 NA18994.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19070.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 others(13): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0094	16	269	0.0595	13	c.561 others(30): Show c.561+6706_561+6718dupTTTTTTTTTTTTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	7/8			chrX	TogoVar
APPBP2_chr17_60438158_60531242	60512832	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0031 a0002c0002t0027g0031	1	144	0.0069	13	c.139 others(32): Show c.139-12358_139-12346dupTTTTTTTTTTTTT	APPBP2	ENSG00000062725.10	transcript	ENST00000083182.8	protein_coding	1/12			chr17	TogoVar
APPL1_chr3_57222729_57278471	57262385	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	266	0.0038	13	c.184 others(32): Show c.1842+1624_1842+1636dupTTTTTTTTTTTTT	APPL1	ENSG00000157500.12	transcript	ENST00000288266.8	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
AQP11_chr11_77584953_77615356	77591467	A A	AAAGGAAA others(6): Show AAAGGAAATTTGTG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	432	0.0023	13	c.619 others(28): Show c.619+857_619+869dupAAGGAAATTTGTG	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
AQP11_chr11_77584953_77615356	77596456	A A	AAAAAATA others(6): Show AAAAAATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp1 HG01243.hp2 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0060 a0001c0004t0001g0061	2	432	0.0046	13	c.619 others(30): Show c.619+5845_619+5846insAAAAATATATATG	AQP11	ENSG00000178301.4	transcript	ENST00000313578.4	protein_coding	1/2			chr11	TogoVar
AQR_chr15_34846782_34974742	34895159	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	312	0.0032	13	c.246 others(32): Show c.2461-1399_2461-1387dupTTTTTTTTTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19011.hp1 NA19060.hp1 HG00621.hp2 NA19011.hp1 NA19060.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0024 a0001c0001 a0006c0024	a0001c0001t0003 a0001c0001t0004 a0006c0024t0003 a0001c0001t0003 a0001c0001t0004 a0006c0024t0003	a0001c0001t0003g0110 a0001c0001t0004g0070 a0006c0024t0003g0116 a0001c0001t0003g0110 a0001c0001t0004g0070 a0006c0024t0003g0116	3	312	0.0096	13	c.246 others(32): Show c.2461-1415_2461-1414insATATATATTTTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02015.hp2 HG02818.hp2 HG01099.hp2 HG02015.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015	a0001c0001t0003g0026 a0001c0001t0013g0010 a0001c0001t0015g0093 a0001c0001t0003g0026 a0001c0001t0013g0010 a0001c0001t0015g0093	3	312	0.0096	13	c.246 others(32): Show c.2461-1415_2461-1414insATATATATATTTT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
AQR_chr15_34846782_34974742	34895187	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp2 NA18943.hp1 HG02630.hp2 HG03139.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0042 a0001c0001t0004 a0001c0001t0010 a0001c0001t0042	a0001c0001t0004g0108 a0001c0001t0010g0262 a0001c0001t0042g0302 a0001c0001t0004g0108 a0001c0001t0010g0262 a0001c0001t0042g0302	3	312	0.0096	13	c.246 others(32): Show c.2461-1415_2461-1414insATATATATATATT	AQR	ENSG00000021776.11	transcript	ENST00000156471.10	protein_coding	22/34			chr15	TogoVar
ARAP2_chr4_36061004_36249514	36096374	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(6): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02109.hp1 HG02922.hp1 HG02965.hp1 HG03516.hp2 HG06807.hp1 NA19043.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0004 a0012c0021 a0001c0001 a0001c0004 a0012c0021	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0012c0021t0009	a0001c0001t0001g0089 a0001c0001t0005g0053 a0001c0001t0005g0066 others(6): Show a0001c0001t0001g0089 a0001c0001t0005g0053 a0001c0001t0005g0066 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0273 a0001c0004t0001g0090 a0001c0004t0001g0269 a0012c0021t0009g0117	9	278	0.0324	13	c.428 others(32): Show c.4286-4355_4286-4354insCTTTTTTTTTTTT	ARAP2	ENSG00000047365.13	transcript	ENST00000303965.9	protein_coding	27/32			chr4	TogoVar
ARAP2_chr4_36061004_36249514	36140172	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	278	0.0036	13	c.326 others(32): Show c.3264-6784_3264-6783insGTGTGTGTGTGTG	ARAP2	ENSG00000047365.13	transcript	ENST00000303965.9	protein_coding	19/32			chr4	TogoVar

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