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
CHL1_chr3_191763_414417	314329	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	290	0.0035	18	c.-94 others(35): Show c.-94-5353_-94-5352insGTATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	333124	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG04115.hp1 NA19007.hp1 HG02293.hp1 HG04115.hp1 NA19007.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0003 a0001c0001t0001 a0005c0005t0003	a0001c0001t0001g0169 a0001c0001t0001g0182 a0005c0005t0003g0261 a0001c0001t0001g0169 a0001c0001t0001g0182 a0005c0005t0003g0261	3	290	0.0103	18	c.385 others(35): Show c.385+4778_385+4779insTTTTTTTTTTTTTTTTTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	5/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP1A_chr16_89639435_89662708	89659089	A A	AGGAGTTC others(11): Show AGGAGTTCAAGACCAGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	392	0.0026	18	c.-15 others(29): Show c.-1519_-1502dupAAGCTGGTCTTGAACTCC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding		1382		chr16	TogoVar
CHMP2B_chr3_87222309_87260556	87257942	C C	CAATAATA others(11): Show CAATAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01943.hp2 HG04199.hp1 others(4): Show HG01496.hp2 HG01943.hp2 HG04199.hp1 NA18948.hp2 NA18965.hp1 NA19075.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0003t0001g0004 a0001c0003t0001g0061 a0001c0001t0001g0001 a0001c0003t0001g0004 a0001c0003t0001g0061	7	414	0.0169	18	c.41 others(29): Show c.4120_*4121insAATAATAATAATAATAAT	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding		2387		chr3	TogoVar
CHMP6_chr17_80986841_81005133	80988884	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01243.hp1 others(4): Show HG00408.hp1 HG00741.hp1 HG01243.hp1 HG01981.hp2 HG02015.hp1 HG02083.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0022 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0004g0001 a0001c0001t0004g0008 a0001c0001t0008g0021	7	438	0.0160	18	c.-30 others(29): Show c.-3035_-3034insGTGTGTGTGTGTGTGTGT	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding		2956		chr17	TogoVar
CHMP6_chr17_80986841_81005133	80991416	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03516.hp2 HG01891.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0096 a0001c0001t0005g0089 a0001c0001t0003g0096 a0001c0001t0005g0089	2	438	0.0046	18	c.-50 others(27): Show c.-503_-502insAAAAAAAAAAAAAAAAAA	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding		424		chr17	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG02723.hp2 HG01168.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0110 a0001c0001t0006g0220 a0001c0001t0001g0110 a0001c0001t0006g0220	2	245	0.0082	18	c.83 others(29): Show c.8340_*8341insTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAAAGA others(11): Show AAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	245	0.0041	18	c.116 others(37): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG00597.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0204 a0001c0001t0001g0180 a0001c0001t0001g0204	2	245	0.0082	18	c.116 others(37): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01106.hp1 others(18): Show HG00140.hp1 HG00639.hp2 HG01106.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01952.hp1 HG02486.hp1 HG02735.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03239.hp2 HG03490.hp1 HG03710.hp1 NA18522.hp1 NA18960.hp1 NA19003.hp1 NA19009.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0021 a0001c0001t0001 a0001c0001t0009 a0001c0001t0021	a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0090 others(18): Show a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0009g0196 a0001c0001t0021g0244	21	245	0.0857	18	c.116 others(37): Show c.1166+6157_1166+6174dupATATATATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85973300	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0244 a0001c0001t0021g0244	1	245	0.0041	18	c.314 others(35): Show c.314+5449_314+5466dupTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	4/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0211	1	245	0.0041	18	c.189 others(33): Show c.189+530_189+531insTATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86026102	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0017 a0006c0010t0017	a0006c0010t0017g0033 a0006c0010t0017g0033	1	245	0.0041	18	c.116 others(35): Show c.116+1371_116+1388dupAAAAAAAAAAAAAAAAAA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174807446	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19091.hp1 NA18948.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0139 a0001c0001t0001g0115 a0001c0001t0001g0139	2	276	0.0073	18	c.110 others(37): Show c.1102+1441_1102+1458dupCACACACACACACACACA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	11/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0054 a0001c0001t0011g0054	1	276	0.0036	18	c.550 others(33): Show c.550-834_550-817dupTTTTTTTTTTTTTTTTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174858979	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	276	0.0036	18	c.550 others(37): Show c.550-12040_550-12023dupGTGTGTGTGTGTGTGTGT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29195595	C C	CGAGAGAG others(11): Show CGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02071.hp2 HG02615.hp2 HG01981.hp2 HG02071.hp2 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0002c0003t0004 a0001c0001t0001 a0001c0001t0006 a0002c0003t0004	a0001c0001t0001g0015 a0001c0001t0006g0020 a0002c0003t0004g0021 a0001c0001t0001g0015 a0001c0001t0006g0020 a0002c0003t0004g0021	3	232	0.0129	18	c.49+ others(31): Show c.49+623_49+640dupAGAGAGAGAGAGAGAGAG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 NA19063.hp1 others(1): Show HG01069.hp1 HG01071.hp1 NA19063.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0012 a0002c0004t0001 a0001c0001t0003 a0001c0001t0012 a0002c0004t0001	a0001c0001t0003g0058 a0001c0001t0012g0055 a0001c0001t0012g0056 others(1): Show a0001c0001t0003g0058 a0001c0001t0012g0055 a0001c0001t0012g0056 a0002c0004t0001g0059	4	232	0.0172	18	c.49+ others(31): Show c.49+640_49+641insAGAGAGAGAGAGAGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03486.hp2 HG02145.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0077 a0001c0002t0002g0078	2	232	0.0086	18	c.49+ others(31): Show c.49+640_49+641insAGAGAGAGAGAGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	232	0.0043	18	c.49+ others(31): Show c.49+640_49+641insAGAGAGAGAGTGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0013	a0003c0007t0013g0013 a0003c0007t0013g0013	1	232	0.0043	18	c.49+ others(35): Show c.49+38844_49+38861dupTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp2 HG02129.hp1 others(5): Show HG00558.hp1 HG02040.hp2 HG02129.hp1 HG02647.hp1 NA18612.hp2 NA19012.hp2 NA19074.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0003 a0001c0001t0009 a0001c0002t0004 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0002t0004 a0001c0002t0020 a0001c0005t0005 a0002c0003t0004	a0001c0001t0003g0014 a0001c0001t0003g0058 a0001c0001t0003g0096 others(5): Show a0001c0001t0003g0014 a0001c0001t0003g0058 a0001c0001t0003g0096 a0001c0001t0009g0043 a0001c0002t0004g0132 a0001c0002t0020g0052 a0001c0005t0005g0151 a0002c0003t0004g0124	8	232	0.0345	18	c.49+ others(35): Show c.49+57599_49+57616dupTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252583	T T	TTTTTTTT others(11): Show TTTTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0062 a0001c0002t0010g0062	1	232	0.0043	18	c.49+ others(35): Show c.49+57600_49+57601insGTTTTGTTTTGTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252584	T T	TTTTTTTT others(11): Show TTTTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	232	0.0043	18	c.49+ others(35): Show c.49+57601_49+57602insGTTTTGTTTTGTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29268283	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00609.hp2 others(12): Show HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01192.hp1 HG01192.hp2 HG01496.hp2 HG02165.hp2 HG02602.hp2 HG03239.hp1 HG03516.hp1 HG03831.hp1 NA18971.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0002t0001	a0001c0001t0001g0130 a0001c0001t0003g0044 a0001c0001t0003g0079 others(12): Show a0001c0001t0001g0130 a0001c0001t0003g0044 a0001c0001t0003g0079 a0001c0001t0003g0096 a0001c0001t0005g0028 a0001c0001t0005g0156 a0001c0001t0005g0159 a0001c0001t0007g0123 a0001c0001t0008g0131 a0001c0001t0008g0228 a0001c0001t0009g0054 a0001c0001t0009g0158 a0001c0001t0019g0115 a0001c0002t0001g0063 a0001c0002t0001g0134	15	232	0.0647	18	c.49+ others(35): Show c.49+73315_49+73332dupCACACACACACACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273351	A A	ATATATAT others(11): Show ATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	232	0.0043	18	c.49+ others(35): Show c.49+78376_49+78377insGTGTATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273357	A A	ATATATAT others(11): Show ATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19082.hp1 HG00558.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0096 a0001c0001t0003g0014 a0001c0001t0003g0096	2	232	0.0086	18	c.49+ others(35): Show c.49+78382_49+78383insGTGTATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29295314	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18970.hp1 HG00280.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0214 a0001c0002t0002g0083 a0001c0001t0003g0214 a0001c0002t0002g0083	2	232	0.0086	18	c.50- others(35): Show c.50-59295_50-59278dupCACACACACACACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29405164	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18986.hp2 NA18998.hp1 others(1): Show HG00642.hp2 NA18986.hp2 NA18998.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 others(1): Show a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0002c0004t0001	a0001c0001t0003g0138 a0001c0001t0011g0073 a0001c0002t0002g0081 others(1): Show a0001c0001t0003g0138 a0001c0001t0011g0073 a0001c0002t0002g0081 a0002c0004t0001g0031	4	232	0.0172	18	c.576 others(35): Show c.576+4377_576+4394dupACACACACACACACACAC	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	1	232	0.0043	18	c.577 others(37): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHP2_chr16_23750026_23763935	23759422	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0001 a0006c0004t0001g0001	1	392	0.0026	18	c.18 others(29): Show c.1839_*1840insTCTTTCTTTCTTTCTTTC	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		488		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110689572	C C	CTATATAT others(11): Show CTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp1 others(72): Show HG00099.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01192.hp1 HG01256.hp1 HG01934.hp1 HG01943.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19075.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042	a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0050 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0002g0034 a0001c0001t0002g0046 a0001c0001t0002g0056 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0139 a0001c0001t0005g0067 a0001c0001t0005g0076 a0001c0001t0005g0080 a0001c0001t0005g0094 a0001c0001t0005g0100 a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0158 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0009g0087 a0001c0001t0009g0093 a0001c0001t0010g0054 a0001c0001t0010g0120 a0001c0001t0010g0162 a0001c0001t0013g0132 a0001c0001t0013g0142 a0001c0001t0013g0149 a0001c0001t0014g0130 a0001c0001t0015g0066 a0001c0001t0015g0163 a0001c0001t0016g0092 a0001c0001t0016g0101 a0001c0001t0017g0048 a0001c0001t0017g0118 a0001c0001t0018g0115 a0001c0001t0018g0135 a0001c0001t0024g0155 a0001c0001t0025g0116 a0001c0001t0028g0091 a0001c0001t0031g0109 a0001c0001t0032g0119 a0001c0001t0033g0106 a0001c0001t0035g0045 a0001c0001t0037g0047 a0001c0001t0038g0140 a0001c0001t0040g0044 a0001c0001t0042g0082	75	172	0.4361	18	c.779 others(33): Show c.779-787_779-770dupTAGATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689578	A A	ATCTATAT others(11): Show ATCTATATATCTCTATATC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	172	0.0058	18	c.779 others(33): Show c.779-776_779-775insGATATAGAGATATATAGA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689606	C C	CTATATAT others(11): Show CTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01934.hp1 HG02698.hp1 others(3): Show HG01358.hp1 HG01934.hp1 HG02698.hp1 NA18945.hp1 NA19062.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019	a0001c0001t0001g0074 a0001c0001t0001g0123 a0001c0001t0005g0089 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0123 a0001c0001t0005g0089 a0001c0001t0010g0120 a0001c0001t0010g0134 a0001c0001t0019g0137	6	172	0.0349	18	c.779 others(33): Show c.779-821_779-804dupTAGATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689614	C C	CTATATAT others(11): Show CTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	172	0.0058	18	c.779 others(33): Show c.779-829_779-812dupTAGATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689747	C C	CTATATAT others(11): Show CTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0003 a0001c0001t0036g0003	1	172	0.0058	18	c.779 others(33): Show c.779-962_779-945dupTAGATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689879	C C	CTATATAT others(11): Show CTATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18966.hp1 NA19056.hp1 others(1): Show NA18952.hp1 NA18966.hp1 NA19056.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0050 a0001c0001t0002g0034 a0001c0001t0002g0083 others(1): Show a0001c0001t0001g0050 a0001c0001t0002g0034 a0001c0001t0002g0083 a0001c0001t0002g0085	4	172	0.0233	18	c.779 others(35): Show c.779-1094_779-1077dupTAGATATATAGATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393857	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02129.hp1 NA18966.hp1 others(1): Show HG00423.hp2 HG02129.hp1 NA18966.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0011g0115	4	133	0.0301	18	c.-76 others(27): Show c.-763_-762insCACACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		318		chr15	TogoVar
CHRM1_chr11_62903679_62926363	62924629	G G	GCTCTCTC others(11): Show GCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	420	0.0024	18	c.-34 others(29): Show c.-3491_-3490insAGAGAGAGAGAGAGAGAG	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3267		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924666	C C	CTATATAT others(11): Show CTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	420	0.0024	18	c.-35 others(29): Show c.-3528_-3527insTATATATATATATATATA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3304		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTAT others(11): Show CTCTCTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	420	0.0024	18	c.-35 others(29): Show c.-3530_-3529insTATATATATATATAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 NA18950.hp1 HG00621.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0001 a0001c0001t0001g0057	2	420	0.0048	18	c.-35 others(29): Show c.-3530_-3529insTATATATATAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	420	0.0024	18	c.-35 others(29): Show c.-3530_-3529insTATATATAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA18965.hp1 HG00597.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0020 a0001c0001t0001g0046	2	420	0.0048	18	c.-35 others(29): Show c.-3530_-3529insTATATAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	420	0.0024	18	c.-35 others(29): Show c.-3530_-3529insTATAGAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0092 a0002c0004t0001g0092	1	420	0.0024	18	c.-35 others(29): Show c.-3530_-3529insTAGAGAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924674	A A	ACATATAT others(11): Show ACATATATATATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0053 a0001c0003t0002g0053	1	420	0.0024	18	c.-35 others(29): Show c.-3536_-3535insCACACACATATATATATG	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3312		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136949459	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18982.hp2 NA18939.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0161 a0001c0002t0005g0030 a0001c0001t0002g0161 a0001c0002t0005g0030	2	320	0.0063	18	c.-12 others(39): Show c.-124-42726_-124-42709dupAAAAAAAAAAAAAAAAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02523.hp1 NA19002.hp1 others(1): Show HG00438.hp1 HG02523.hp1 NA19002.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0172 a0001c0001t0005g0173 others(1): Show a0001c0001t0005g0162 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0291	4	320	0.0125	18	c.-46 others(35): Show c.-46-3604_-46-3603insGTGTGTATATATATATAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137011215	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG03130.hp2 others(3): Show HG01884.hp2 HG02109.hp1 HG03130.hp2 HG03516.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0035 others(2): Show a0001c0001t0009 a0001c0001t0015 a0001c0001t0035 a0001c0001t0053 a0001c0001t0071	a0001c0001t0009g0298 a0001c0001t0015g0046 a0001c0001t0035g0114 others(3): Show a0001c0001t0009g0298 a0001c0001t0015g0046 a0001c0001t0035g0114 a0001c0001t0035g0115 a0001c0001t0053g0263 a0001c0001t0071g0306	6	320	0.0188	18	c.-46 others(35): Show c.-46-3604_-46-3603insGTGTGTGTATATATATAT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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