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
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(7): Show CTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	166	0.0060	14	c.640 others(33): Show c.640+32013_640+32014insTTCTTCTTCTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86556756	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	166	0.0060	14	c.640 others(33): Show c.640+42392_640+42405dupTATATATATATATA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86556789	T T	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	166	0.0060	14	c.640 others(33): Show c.640+42399_640+42400insGAGAGAGAGAGAGA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86556795	T T	TATATATA others(7): Show TATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	166	0.0060	14	c.640 others(33): Show c.640+42405_640+42406insTATATAGAGAGAGA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86556795	T T	TATATATA others(7): Show TATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0150 a0001c0004t0001g0150	1	166	0.0060	14	c.640 others(33): Show c.640+42405_640+42406insTATATATAGAGAGA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86656857	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp1 NA18906.hp2 others(1): Show HG02486.hp1 HG03041.hp1 NA18906.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0121 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0002g0155	4	166	0.0241	14	c.772 others(31): Show c.772+5711_772+5724dupTATATATATATATA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86698519	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	166	0.0060	14	c.931 others(31): Show c.931+3341_931+3342insTTTTTTTTTTTTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86698521	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02622.hp1 HG02056.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0099 a0001c0001t0001g0107	2	166	0.0121	14	c.931 others(31): Show c.931+3356_931+3369dupTTTTTTTTTTTTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86698533	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	166	0.0060	14	c.931 others(31): Show c.931+3367_931+3368insGTTTTTTTTTTTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86707912	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	166	0.0060	14	c.932 others(31): Show c.932-6631_932-6618dupAAAAAAAAAAAAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT2_chr6_168301904_168324777	168311548	A A	ACATACAC others(7): Show ACATACACACACACC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18963.hp2 NA18944.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	2	476	0.0042	14	c.247 others(29): Show c.247-265_247-264insGGTGTGTGTGTATG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	1/3			chr6	TogoVar
DACT2_chr6_168301904_168324777	168320161	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01175.hp1 HG02027.hp2 others(9): Show HG00558.hp2 HG01175.hp1 HG02027.hp2 HG02056.hp2 HG02300.hp1 HG03834.hp2 HG03942.hp1 NA18946.hp2 NA18947.hp2 NA18965.hp1 NA18975.hp2 NA19065.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0017 a0019	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0017c0029 a0019c0026	a0001c0001t0001 a0002c0002t0005 a0003c0004t0008 others(2): Show a0001c0001t0001 a0002c0002t0005 a0003c0004t0008 a0017c0029t0001 a0019c0026t0001	a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0200 others(8): Show a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0200 a0001c0001t0001g0277 a0001c0001t0001g0303 a0002c0002t0005g0002 a0002c0002t0005g0057 a0002c0002t0005g0255 a0003c0004t0008g0235 a0017c0029t0001g0196 a0019c0026t0001g0216	12	476	0.0252	14	c.-52 others(23): Show c.-529_-528insAAAAAAAAAAAAAA	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		385		chr6	TogoVar
DACT3_chr19_46642551_46666182	46651644	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	460	0.0022	14	c.499 others(31): Show c.499+1002_499+1015dupCACACACACACACA	DACT3	ENSG00000197380.11	transcript	ENST00000391916.7	protein_coding	3/3			chr19	TogoVar
DACT3_chr19_46642551_46666182	46661355	C C	CGAGCGGA others(7): Show CGAGCGGAGTGAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	460	0.0022	14	c.-29 others(23): Show c.-292_-291insTACTCACTCCGCTC	DACT3	ENSG00000197380.11	transcript	ENST00000391916.7	protein_coding		174		chr19	TogoVar
DAG1_chr3_49465267_49540615	49528275	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02615.hp1 HG02809.hp2 others(2): Show HG01167.hp2 HG02615.hp1 HG02809.hp2 HG03486.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0091 a0001c0002t0002g0095 others(2): Show a0001c0002t0002g0087 a0001c0002t0002g0091 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0104	5	238	0.0210	14	c.286 others(31): Show c.286-2508_286-2495dupTTTTTTTTTTTTTT	DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DAGLB_chr7_6404129_6452954	6407147	A A	AAAATTTT others(7): Show AAAATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA19030.hp2 HG03927.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0350 a0001c0002t0002g0089 a0001c0001t0001g0350 a0001c0002t0002g0089	2	380	0.0053	14	c.26 others(25): Show c.2689_*2690insAAAAAAAAAAATTT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding		1981		chr7	TogoVar
DAGLB_chr7_6404129_6452954	6407147	A A	AAATTTTT others(7): Show AAATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 NA19240.hp2 HG02897.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0351 a0001c0001t0005g0355 a0001c0001t0005g0351 a0001c0001t0005g0355	2	380	0.0053	14	c.26 others(25): Show c.2689_*2690insAAAAAAAAAAAATT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding		1981		chr7	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCACG others(7): Show TCAGCACGGGAGGCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	380	0.0026	14	c.121 others(31): Show c.1218+419_1218+420insCGCCTCCCGTGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(7): Show TCAGCGCGGGAGGCG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0073 a0002c0003t0001g0073	1	380	0.0026	14	c.121 others(31): Show c.1218+419_1218+420insCGCCTCCCGCGCTG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DAGLB_chr7_6404129_6452954	6430250	C C	CATATACA others(7): Show CATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0266 a0003c0005t0001g0305 a0003c0005t0001g0266 a0003c0005t0001g0305	2	380	0.0053	14	c.929 others(29): Show c.929+229_929+230insATATATATGTATAT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14			chr7	TogoVar
DAGLB_chr7_6404129_6452954	6430250	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp2 others(21): Show HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG01071.hp1 HG01257.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG02056.hp1 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02572.hp1 HG02717.hp1 HG03041.hp2 HG03195.hp2 NA18947.hp2 NA18954.hp2 NA18955.hp2 NA18964.hp2 NA18981.hp2 NA18983.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0003 a0004c0008 others(1): Show a0001c0001 a0002c0003 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0002c0003t0001 a0002c0003t0007 a0004c0008t0002 a0005c0007t0001	a0001c0001t0001g0293 a0001c0001t0005g0352 a0001c0001t0005g0354 others(21): Show a0001c0001t0001g0293 a0001c0001t0005g0352 a0001c0001t0005g0354 a0001c0001t0005g0355 a0001c0001t0005g0358 a0001c0001t0005g0359 a0002c0003t0001g0015 a0002c0003t0001g0028 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0044 a0002c0003t0001g0048 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0065 a0002c0003t0001g0068 a0002c0003t0001g0077 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0007g0005 a0004c0008t0002g0186 a0005c0007t0001g0020 a0005c0007t0001g0021 a0005c0007t0001g0022	24	380	0.0632	14	c.929 others(29): Show c.929+216_929+229dupATATATATATATAT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14			chr7	TogoVar
DAGLB_chr7_6404129_6452954	6430250	C C	CATATGTA others(7): Show CATATGTATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0066 a0002c0003t0001g0066	1	380	0.0026	14	c.929 others(29): Show c.929+229_929+230insATATATATACATAT	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	6/14			chr7	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTATAT others(7): Show CTCTATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG00741.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	412	0.0049	14	c.26 others(25): Show c.2622_*2623insTCTATATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTAT others(7): Show CTCTCTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	412	0.0024	14	c.26 others(25): Show c.2622_*2623insTCTCTATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(7): Show CTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	412	0.0024	14	c.26 others(25): Show c.2622_*2623insTCTCTCTATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(7): Show CTCTCTCTCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 NA18970.hp1 HG04228.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0003 a0001c0001t0001g0005	2	412	0.0049	14	c.26 others(25): Show c.2622_*2623insTCTCTCTCTATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAOA_chr13_105461045_105496034	105495765	C C	CCTTCCTT others(7): Show CCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	412	0.0024	14	c.49 others(25): Show c.4965_*4966insCTTCCTTCCTTCCT	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		4732		chr13	TogoVar
DAO_chr12_108875092_108906043	108881162	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02523.hp2 HG03942.hp2 others(11): Show HG02027.hp1 HG02523.hp2 HG03942.hp2 NA18612.hp1 NA18967.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp2 NA19002.hp2 NA19043.hp1 NA19065.hp2 NA19079.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0148 a0001c0001t0001g0149 others(10): Show a0001c0001t0001g0044 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0002g0298	14	388	0.0361	14	c.-10 others(29): Show c.-10+961_-10+974dupCACACACACACACA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
DAO_chr12_108875092_108906043	108881474	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03471.hp1 HG02683.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0112 a0001c0002t0002g0202 a0001c0001t0002g0112 a0001c0002t0002g0202	2	388	0.0052	14	c.-10 others(31): Show c.-10+1273_-10+1286dupACACACACACACAC	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
DAO_chr12_108875092_108906043	108896419	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02572.hp1 HG02723.hp2 others(3): Show HG00733.hp1 HG02572.hp1 HG02723.hp2 HG03130.hp1 HG03139.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0223 a0001c0002t0001g0224 others(3): Show a0001c0002t0001g0054 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0287 a0001c0002t0001g0302	6	388	0.0155	14	c.613 others(29): Show c.613-577_613-564dupAAAAAAAAAAAAAA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
DAO_chr12_108875092_108906043	108902935	C C	CTATCATA others(7): Show CTATCATAATAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	388	0.0026	14	c.24 others(25): Show c.2400_*2401insTATCATAATAATTA	DAO	ENSG00000110887.8	transcript	ENST00000228476.8	protein_coding		1893		chr12	TogoVar
DAPK1_chr9_87492867_87713634	87511668	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01358.hp1 others(19): Show HG00639.hp2 HG01243.hp1 HG01358.hp1 HG02109.hp2 HG02572.hp2 HG02602.hp2 HG02738.hp1 HG02818.hp1 HG02896.hp2 HG03017.hp1 HG03195.hp2 HG03490.hp2 HG03491.hp1 NA18955.hp2 NA18986.hp2 NA18990.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19064.hp1 NA19065.hp2 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0019 a0001c0020 a0001c0024 a0001c0025 a0002c0003 a0003c0028	a0001c0001t0001 a0001c0002t0001 a0001c0002t0011 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0011 a0001c0004t0001 a0001c0005t0001 a0001c0010t0001 a0001c0019t0001 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0002c0003t0001 a0003c0028t0002	a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0078 others(19): Show a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0011g0077 a0001c0004t0001g0076 a0001c0004t0001g0087 a0001c0005t0001g0052 a0001c0005t0001g0053 a0001c0005t0001g0084 a0001c0010t0001g0047 a0001c0019t0001g0005 a0001c0020t0001g0051 a0001c0020t0001g0079 a0001c0024t0001g0004 a0001c0025t0001g0085 a0002c0003t0001g0062 a0003c0028t0002g0046	22	236	0.0932	14	c.62+ others(31): Show c.62+12553_62+12566dupGTGTGTGTGTGTGT	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571497	C C	CCCAACAC others(7): Show CCCAACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	236	0.0042	14	c.63- others(31): Show c.63-33457_63-33456insCCAACACACACACA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25			chr9	TogoVar
DAPK1_chr9_87492867_87713634	87571498	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03669.hp1 HG01109.hp2 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0001 a0001c0002t0003 a0001c0004t0001	a0001c0002t0003g0123 a0001c0004t0001g0173 a0001c0002t0003g0123 a0001c0004t0001g0173	2	236	0.0085	14	c.63- others(31): Show c.63-33439_63-33426dupACACACACACACAC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87632904	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01496.hp2 HG02300.hp1 others(11): Show HG00609.hp2 HG01496.hp2 HG02300.hp1 HG02809.hp2 HG03942.hp1 NA18960.hp1 NA18969.hp2 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA19011.hp1 NA19011.hp2 NA19068.hp1 NA19084.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0002c0006 a0002c0016 a0004c0018	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0002c0006t0001 a0002c0016t0003 a0004c0018t0001	a0001c0001t0001g0203 a0001c0002t0001g0017 a0001c0002t0001g0022 others(11): Show a0001c0001t0001g0203 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0082 a0001c0002t0001g0089 a0001c0002t0001g0092 a0001c0004t0001g0165 a0001c0005t0001g0201 a0001c0009t0001g0205 a0001c0009t0001g0207 a0002c0006t0001g0064 a0002c0016t0003g0114 a0004c0018t0001g0156	14	236	0.0593	14	c.285 others(31): Show c.285-5034_285-5021dupTATATATATATATA	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87662560	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02155.hp2 HG03927.hp1 others(2): Show HG01243.hp1 HG02155.hp2 HG03927.hp1 NA18979.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0025 a0001c0031 others(1): Show a0001c0004 a0001c0025 a0001c0031 a0002c0003	a0001c0004t0001 a0001c0025t0001 a0001c0031t0001 others(1): Show a0001c0004t0001 a0001c0025t0001 a0001c0031t0001 a0002c0003t0003	a0001c0004t0001g0090 a0001c0004t0001g0129 a0001c0025t0001g0085 others(2): Show a0001c0004t0001g0090 a0001c0004t0001g0129 a0001c0025t0001g0085 a0001c0031t0001g0125 a0002c0003t0003g0117	5	236	0.0212	14	c.192 others(33): Show c.1923+4445_1923+4458dupTTTTTTTTTTTTTT	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK1_chr9_87492867_87713634	87675848	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG02155.hp2 others(6): Show HG00408.hp1 HG00423.hp2 HG02155.hp2 HG02630.hp1 HG02738.hp2 HG06807.hp2 NA18969.hp1 NA19060.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 others(1): Show a0001c0002 a0001c0005 a0002c0003 a0002c0015	a0001c0002t0001 a0001c0005t0001 a0001c0005t0003 others(3): Show a0001c0002t0001 a0001c0005t0001 a0001c0005t0003 a0002c0003t0002 a0002c0003t0003 a0002c0015t0002	a0001c0002t0001g0023 a0001c0002t0001g0133 a0001c0002t0001g0189 others(6): Show a0001c0002t0001g0023 a0001c0002t0001g0133 a0001c0002t0001g0189 a0001c0005t0001g0088 a0001c0005t0001g0093 a0001c0005t0003g0112 a0002c0003t0002g0068 a0002c0003t0003g0117 a0002c0015t0002g0218	9	236	0.0381	14	c.200 others(33): Show c.2002-5521_2002-5508dupACACACACACACAC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK2_chr15_63902036_64051485	64002916	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0211 a0001c0001t0008g0211	1	214	0.0047	14	c.93- others(31): Show c.93-19176_93-19163dupCACACACACACACA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64002974	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02280.hp2 HG02698.hp1 others(4): Show HG01517.hp2 HG02280.hp2 HG02698.hp1 HG04199.hp1 HG04199.hp2 NA19003.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0022	a0001c0001t0001g0120 a0001c0001t0001g0156 a0001c0001t0001g0160 others(4): Show a0001c0001t0001g0120 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0005g0034 a0001c0001t0013g0126 a0001c0001t0022g0001	7	214	0.0327	14	c.93- others(31): Show c.93-19234_93-19221dupCACACACACACACA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64003010	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18612.hp1 HG04115.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0026 a0001c0001t0006 a0001c0001t0026	a0001c0001t0006g0047 a0001c0001t0026g0018 a0001c0001t0006g0047 a0001c0001t0026g0018	2	214	0.0094	14	c.93- others(31): Show c.93-19257_93-19256insAACACACACACACA	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64030979	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0061 a0001c0002t0010g0061	1	214	0.0047	14	c.92+ others(29): Show c.92+9177_92+9190dupGTGTGTGTGTGTGT	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64033327	A A	AGGAAGGA others(7): Show AGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0001 a0001c0001t0022g0001	1	214	0.0047	14	c.92+ others(29): Show c.92+6842_92+6843insCCTTCCTTCCTTCC	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK3_chr19_3953453_3976099	3953637	A A	AGGGGGGC others(7): Show AGGGGGGCGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 NA20752.hp1 HG01074.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	364	0.0055	14	c.54 others(25): Show c.5463_*5464insCCCCCCCGCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4815		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953645	G G	GGGGGGGG others(7): Show GGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01516.hp2 HG02165.hp1 others(5): Show HG01169.hp2 HG01516.hp2 HG02165.hp1 HG02622.hp1 HG03139.hp2 NA18969.hp1 NA18970.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0089 a0001c0001t0003g0005 a0001c0001t0003g0113	8	364	0.0220	14	c.54 others(25): Show c.5455_*5456insGCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4807		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953646	G G	GGGGGGGG others(7): Show GGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG01123.hp1 others(16): Show HG00323.hp1 HG01099.hp2 HG01123.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG02148.hp1 HG02258.hp2 HG02886.hp2 HG02896.hp2 HG03098.hp2 HG04228.hp1 NA18522.hp1 NA18944.hp2 NA18952.hp1 NA18973.hp2 NA18975.hp2 NA19063.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0002c0003t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0016 others(12): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0059 a0001c0001t0003g0119 a0001c0001t0003g0134 a0001c0001t0006g0023 a0001c0002t0001g0072 a0001c0002t0001g0074 a0002c0003t0002g0045	19	364	0.0522	14	c.54 others(25): Show c.5454_*5455insGCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4806		chr19	TogoVar
DAPL1_chr2_158790317_158820990	158809357	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG01074.hp2 others(23): Show HG00423.hp2 HG00642.hp2 HG01074.hp2 HG01123.hp1 HG01175.hp1 HG01346.hp1 HG01884.hp1 HG01891.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03579.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18953.hp2 NA19005.hp1 NA19066.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0002t0001 a0003c0004t0002	a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0094 others(20): Show a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0094 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0002g0029 a0001c0001t0002g0081 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0172 a0001c0003t0002g0119 a0002c0002t0001g0084 a0002c0002t0001g0085 a0003c0004t0002g0064	26	360	0.0722	14	c.207 others(31): Show c.207+2253_207+2254insAAAAAAAAAAAAAA	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
DAPP1_chr4_99811827_99875190	99865851	C C	CTGTAGAG others(7): Show CTGTAGAGTGGGGGG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	366	0.0027	14	c.687 others(29): Show c.687-183_687-182insTGTAGAGTGGGGGG	DAPP1	ENSG00000070190.13	transcript	ENST00000512369.2	protein_coding	7/8			chr4	TogoVar
DAP_chr5_10674230_10766234	10733155	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	372	0.0027	14	c.152 others(33): Show c.152+15006_152+15019dupACACACACACACAC	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	2/3			chr5	TogoVar
DARS1_chr2_135900881_135990626	135907242	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01175.hp2 HG02572.hp2 others(9): Show HG00642.hp2 HG01175.hp2 HG02572.hp2 NA18947.hp1 NA18970.hp2 NA19030.hp1 NA19056.hp1 NA19064.hp2 NA19065.hp2 NA19085.hp2 NA19087.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0005 a0001c0001t0026	a0001c0001t0005g0017 a0001c0001t0005g0275 a0001c0001t0005g0289 others(8): Show a0001c0001t0005g0017 a0001c0001t0005g0275 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0300 a0001c0001t0005g0302 a0001c0001t0005g0309 a0001c0001t0005g0315 a0001c0001t0005g0326 a0001c0001t0026g0264	12	378	0.0318	14	c.60 others(21): Show c.60_*73dupAAAAAAAAAAAAAA	DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	16/16	73		chr2	TogoVar
DARS1_chr2_135900881_135990626	135959391	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	378	0.0027	14	c.320 others(31): Show c.320+1991_320+2004dupTTTTTTTTTTTTTT	DARS1	ENSG00000115866.11	transcript	ENST00000264161.9	protein_coding	4/15			chr2	TogoVar

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