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
DLGAP1_chr18_3491032_4460307	3888107	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0014 a0001c0002t0030g0014	1	80	0.0125	16	c.-72 others(33): Show c.-72-7983_-72-7968dupTTTTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	3/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4045432	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0043 a0001c0001t0022g0043	1	80	0.0125	16	c.-15 others(37): Show c.-158-40247_-158-40232dupTTTTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4082510	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01433.hp2 others(3): Show HG00099.hp2 HG00140.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009	a0001c0001t0004 a0001c0001t0006 a0001c0002t0030 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0030 a0001c0005t0005 a0001c0005t0017 a0001c0009t0026	a0001c0001t0004g0019 a0001c0001t0006g0002 a0001c0002t0030g0014 others(3): Show a0001c0001t0004g0019 a0001c0001t0006g0002 a0001c0002t0030g0014 a0001c0005t0005g0038 a0001c0005t0017g0021 a0001c0009t0026g0041	6	80	0.0750	16	c.-15 others(37): Show c.-159+68654_-159+68669dupTTTTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4265641	T T	TTCCCTCC others(9): Show TTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp1 HG02965.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0035 a0001c0004t0002 a0001c0003t0035 a0001c0004t0002	a0001c0003t0035g0074 a0001c0004t0002g0035 a0001c0003t0035g0074 a0001c0004t0002g0035	2	80	0.0250	16	c.-26 others(39): Show c.-266-114370_-266-114355dupGGGAGGGAGGGAGGGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4348400	A A	ATGTGTAT others(9): Show ATGTGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02970.hp1 NA18522.hp2 HG01106.hp1 HG02970.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0027 a0001c0001t0003 a0001c0001t0005 a0001c0001t0027	a0001c0001t0003g0059 a0001c0001t0005g0042 a0001c0001t0027g0024 a0001c0001t0003g0059 a0001c0001t0005g0042 a0001c0001t0027g0024	3	80	0.0375	16	c.-26 others(39): Show c.-267+106605_-267+106606insCACACACACATACACA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4348400	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03098.hp1 NA21309.hp2 HG02135.hp2 HG03098.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0024 a0001c0001t0002 a0001c0001t0003 a0001c0002t0024	a0001c0001t0002g0008 a0001c0001t0003g0071 a0001c0002t0024g0034 a0001c0001t0002g0008 a0001c0001t0003g0071 a0001c0002t0024g0034	3	80	0.0375	16	c.-26 others(39): Show c.-267+106590_-267+106605dupCACACACACACACACA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4430502	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03704.hp1 HG04184.hp2 HG02135.hp2 HG03704.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0008 a0001c0001t0004g0026 a0001c0001t0010g0029 a0001c0001t0002g0008 a0001c0001t0004g0026 a0001c0001t0010g0029	3	80	0.0375	16	c.-26 others(37): Show c.-267+24488_-267+24503dupCACACACACACACACA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	736421	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01891.hp2 HG01361.hp1 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0014 a0002c0001t0001 a0001c0003t0014 a0002c0001t0001	a0001c0003t0014g0020 a0002c0001t0001g0018 a0001c0003t0014g0020 a0002c0001t0001g0018	2	40	0.0500	16	c.-13 others(27): Show c.-1387_-1386insTTTTTTTTTTTTTTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding		1206		chr8	TogoVar
DLGAP2_chr8_732628_1713476	960237	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0029 a0004c0008t0016g0029	1	40	0.0250	16	c.73+ others(33): Show c.73+52286_73+52287insTTTTTTTTTTTTTTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1023855	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	16	c.73+ others(35): Show c.73+115890_73+115891insGTGTGTGTGTGTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1023857	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18906.hp1 HG02976.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0001 a0004c0008t0016 a0001c0002t0001 a0004c0008t0016	a0001c0002t0001g0015 a0004c0008t0016g0029 a0001c0002t0001g0015 a0004c0008t0016g0029	2	40	0.0500	16	c.73+ others(35): Show c.73+115919_73+115934dupGTGTGTGTGTGTGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1227153	G G	GATAGATA others(9): Show GATAGATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	16	c.74- others(33): Show c.74-31695_74-31694insGATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1227153	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0001 a0002c0001t0011g0001	1	40	0.0250	16	c.74- others(33): Show c.74-31692_74-31677dupTATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1287131	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	16	c.106 others(35): Show c.106+28260_106+28275dupTGTGTGTGTGTGTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1360199	A A	AGGGGCGG others(9): Show AGGGGCGGGGCTTCTCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	16	c.106 others(37): Show c.106+101328_106+101329insCTCCGGGGCGGGGCTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1360199	A A	AGGGGCGG others(9): Show AGGGGCGGGGCTTTTCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0035 a0002c0001t0005g0035	1	40	0.0250	16	c.106 others(37): Show c.106+101329_106+101344dupTTCCGGGGCGGGGCTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1360212	T T	TTCCGGGG others(9): Show TTCCGGGGCGGGGCTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG02922.hp1 others(5): Show HG00639.hp2 HG01496.hp2 HG02922.hp1 HG02976.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(3): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0002c0001 a0003c0005	a0001c0002t0001 a0001c0002t0022 a0001c0003t0001 others(5): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0001 a0001c0009t0012 a0001c0010t0025 a0002c0001t0007 a0003c0005t0002 a0003c0005t0004	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0001g0026 others(5): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0001g0026 a0001c0009t0012g0006 a0001c0010t0025g0012 a0002c0001t0007g0038 a0003c0005t0002g0031 a0003c0005t0004g0037	8	40	0.2000	16	c.106 others(37): Show c.106+101380_106+101395dupCGGGGCGGGGCTTCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1360279	T T	TGGGGCGG others(9): Show TGGGGCGGGGCTTCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	16	c.106 others(37): Show c.106+101429_106+101444dupGGGGCGGGGCTTCTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1429997	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0017 a0002c0001t0003g0017	1	40	0.0250	16	c.107 others(35): Show c.107-71360_107-71359insTATATATATATATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1516527	G G	GTGAGTGA others(9): Show GTGAGTGAGTGAGTGCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	16	c.172 others(35): Show c.172+15100_172+15115dupGTGAGTGAGTGCATGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34896585	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02258.hp1 HG02976.hp1 HG01258.hp1 HG02258.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0103 a0001c0001t0001g0182 a0001c0001t0001g0021 a0001c0001t0001g0103 a0001c0001t0001g0182	3	266	0.0113	16	c.138 others(35): Show c.1386+3068_1386+3083dupTGTGTGTGTGTGTGTG	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	5/11			chr1	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	266	0.0038	16	c.-51 others(31): Show c.-51-598_-51-583dupTATATATATATATATA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLGAP4_chr20_36301339_36533633	36467017	C C	CCTCCCTC others(9): Show CCTCCCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0099 a0003c0004t0002g0099	1	144	0.0069	16	c.164 others(37): Show c.1648+20083_1648+20084insCCTCTCTCTCTCTCTC	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36467017	C C	CCTCTCTC others(9): Show CCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	144	0.0069	16	c.164 others(37): Show c.1648+20112_1648+20127dupTCTCTCTCTCTCTCTC	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36525216	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp2 HG02698.hp1 others(1): Show HG01081.hp2 HG01346.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0002g0089	4	144	0.0278	16	c.260 others(33): Show c.2605-612_2605-597dupAAAAAAAAAAAAAAAA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP5_chr14_55143135_55196585	55190289	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp1 HG02965.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0099 a0002c0002t0001g0100	2	362	0.0055	16	c.-1- others(31): Show c.-1-1125_-1-1110dupGTGTGTGTGTGTGTGT	DLGAP5	ENSG00000126787.13	transcript	ENST00000247191.7	protein_coding	1/18			chr14	TogoVar
DLGAP5_chr14_55143135_55196585	55190289	T T	TATACACA others(9): Show TATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03579.hp1 HG01358.hp1 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0027 a0002c0004t0001g0028	2	362	0.0055	16	c.-1- others(31): Show c.-1-1110_-1-1109insGTGTGTGTGTGTGTAT	DLGAP5	ENSG00000126787.13	transcript	ENST00000247191.7	protein_coding	1/18			chr14	TogoVar
DLK1_chr14_100721892_100743224	100740364	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0011 a0003c0005t0006g0011	1	424	0.0024	16	c.54 others(27): Show c.5468_*5469insTTTTTTTTTTTTTTTT	DLK1	ENSG00000185559.16	transcript	ENST00000341267.9	protein_coding		2141		chr14	TogoVar
DLST_chr14_74876916_74908743	74878668	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00733.hp1 others(18): Show HG00140.hp1 HG00280.hp1 HG00733.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01891.hp2 HG02055.hp2 HG02148.hp2 HG02647.hp1 NA18906.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp1 NA18978.hp2 NA18983.hp2 NA19058.hp2 NA19060.hp1 NA19079.hp2 NA19088.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0010 a0001c0003t0003 a0001c0003t0015 others(2): Show a0001c0001t0010 a0001c0003t0003 a0001c0003t0015 a0001c0006t0003 a0002c0005t0003	a0001c0001t0010g0045 a0001c0003t0003g0003 a0001c0003t0003g0008 others(9): Show a0001c0001t0010g0045 a0001c0003t0003g0003 a0001c0003t0003g0008 a0001c0003t0003g0018 a0001c0003t0003g0036 a0001c0003t0003g0121 a0001c0003t0003g0125 a0001c0003t0003g0129 a0001c0003t0003g0173 a0001c0003t0015g0126 a0001c0006t0003g0003 a0002c0005t0003g0133	21	392	0.0536	16	c.-32 others(27): Show c.-3286_-3285insGTGTGTGTGTGTGTGT	DLST	ENSG00000119689.15	transcript	ENST00000334220.9	protein_coding		3247		chr14	TogoVar
DLX3_chr17_49985005_50000224	49995355	C C	CCTCTCTC others(9): Show CCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01069.hp2 HG01243.hp2 others(20): Show HG00544.hp2 HG01069.hp2 HG01243.hp2 HG01891.hp2 HG01975.hp2 HG02074.hp1 HG02109.hp1 HG02148.hp1 HG02293.hp2 HG02451.hp2 HG03209.hp2 HG04204.hp2 NA18522.hp2 NA18954.hp2 NA18961.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18997.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0006 a0001c0003t0039 a0001c0003t0003 a0001c0003t0006 a0001c0003t0039	a0001c0003t0003g0003 a0001c0003t0006g0006 a0001c0003t0006g0090 others(2): Show a0001c0003t0003g0003 a0001c0003t0006g0006 a0001c0003t0006g0090 a0001c0003t0006g0091 a0001c0003t0039g0077	23	438	0.0525	16	c.-35 others(25): Show c.-358_-357insAGAGAGAGAGAGAGAG	DLX3	ENSG00000064195.7	transcript	ENST00000434704.2	protein_coding		132		chr17	TogoVar
DLX3_chr17_49985005_50000224	49995433	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00741.hp2 HG01069.hp2 others(35): Show HG00621.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02698.hp2 HG02970.hp1 HG02976.hp1 HG04228.hp2 NA18941.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19057.hp2 NA19067.hp2 NA19081.hp1 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0036 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0036 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0003t0003 a0001c0003t0006	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0010g0009 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0010g0009 a0001c0001t0036g0056 a0001c0002t0002g0002 a0001c0002t0004g0004 a0001c0002t0004g0075 a0001c0002t0008g0008 a0001c0002t0008g0069 a0001c0003t0003g0003 a0001c0003t0006g0006	38	438	0.0868	16	c.-43 others(25): Show c.-436_-435insGTGTGTGTGTGTGTGT	DLX3	ENSG00000064195.7	transcript	ENST00000434704.2	protein_coding		210		chr17	TogoVar
DLX3_chr17_49985005_50000224	49995462	A A	ACACACAC others(9): Show ACACACACACACACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01981.hp2 HG03239.hp2 HG01952.hp1 HG01981.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0008 a0001c0002t0008g0070 a0001c0002t0008g0074 a0001c0002t0008g0008 a0001c0002t0008g0070 a0001c0002t0008g0074	3	438	0.0069	16	c.-46 others(25): Show c.-465_-464insGGTGTGTGTGTGTGTG	DLX3	ENSG00000064195.7	transcript	ENST00000434704.2	protein_coding		239		chr17	TogoVar
DLX5_chr7_97015396_97029831	97016221	C C	CCACACAC others(9): Show CCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	448	0.0022	16	c.45 others(27): Show c.4514_*4515insTGTGTGTGTGTGTGTG	DLX5	ENSG00000105880.7	transcript	ENST00000648378.1	protein_coding		4174		chr7	TogoVar
DLX5_chr7_97015396_97029831	97016224	A A	AACACACA others(9): Show AACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00735.hp1 others(43): Show HG00423.hp1 HG00423.hp2 HG00735.hp1 HG01069.hp2 HG01258.hp2 HG01975.hp1 HG01981.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02300.hp1 HG02622.hp1 HG02630.hp2 HG02896.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG03942.hp2 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18972.hp1 NA18979.hp1 NA18986.hp2 NA18991.hp2 NA19003.hp1 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19082.hp2 NA19090.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0085 a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0034 a0001c0001t0004g0068 a0001c0002t0001g0080 a0002c0003t0001g0043	46	448	0.1027	16	c.45 others(27): Show c.4511_*4512insGTGTGTGTGTGTGTGT	DLX5	ENSG00000105880.7	transcript	ENST00000648378.1	protein_coding		4171		chr7	TogoVar
DMAC1_chr9_7791500_7804778	7799994	G G	GCCCCCCC others(9): Show GCCCCCCCCCGCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	474	0.0021	16	c.-26 others(25): Show c.-261_-260insGGGGGGCGGGGGGGGG	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding		217		chr9	TogoVar
DMAC1_chr9_7791500_7804778	7799994	G G	GCCCCCCC others(9): Show GCCCCCCCCGCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02622.hp2 NA19056.hp2 others(1): Show HG00639.hp2 HG02622.hp2 NA19056.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0007g0037 a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0007g0037	4	474	0.0084	16	c.-26 others(25): Show c.-261_-260insGGGGGGGCGGGGGGGG	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding		217		chr9	TogoVar
DMAC2_chr19_41426318_41444912	41428633	A A	ACACAGTC others(9): Show ACACAGTCTGTCAGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02258.hp1 HG02723.hp1 others(6): Show HG01123.hp1 HG02258.hp1 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03540.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0001 a0003c0003t0003 a0003c0003t0006	a0003c0003t0001g0046 a0003c0003t0001g0170 a0003c0003t0001g0171 others(5): Show a0003c0003t0001g0046 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0174 a0003c0003t0003g0167 a0003c0003t0003g0169 a0003c0003t0006g0173	9	426	0.0211	16	c.35 others(27): Show c.3582_*3597dupCTGCTGACAGACTGTG	DMAC2	ENSG00000105341.19	transcript	ENST00000221943.14	protein_coding		2684		chr19	TogoVar
DMAC2_chr19_41426318_41444912	41432653	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0072 a0003c0005t0001g0072	1	426	0.0024	16	c.597 others(31): Show c.597-261_597-246dupACACACACACACACAC	DMAC2	ENSG00000105341.19	transcript	ENST00000221943.14	protein_coding	5/5			chr19	TogoVar
DMAC2_chr19_41426318_41444912	41432674	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01981.hp2 HG02300.hp2 others(6): Show HG01928.hp2 HG01981.hp2 HG02300.hp2 NA18961.hp1 NA18971.hp2 NA19000.hp2 NA19058.hp2 NA19063.hp1 NA19088.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0013 a0002c0002t0001g0039 a0002c0002t0001g0132 others(1): Show a0002c0002t0001g0013 a0002c0002t0001g0039 a0002c0002t0001g0132 a0003c0003t0001g0095	9	426	0.0211	16	c.597 others(31): Show c.597-267_597-266insTACACACACACACACA	DMAC2	ENSG00000105341.19	transcript	ENST00000221943.14	protein_coding	5/5			chr19	TogoVar
DMAC2_chr19_41426318_41444912	41432706	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02258.hp1 HG02922.hp1 others(1): Show HG01123.hp1 HG02258.hp1 HG02922.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0046 a0003c0003t0001g0171 a0003c0003t0003g0169 a0003c0003t0001g0046 a0003c0003t0001g0171 a0003c0003t0003g0169	4	426	0.0094	16	c.597 others(31): Show c.597-314_597-299dupACACACACACACACAC	DMAC2	ENSG00000105341.19	transcript	ENST00000221943.14	protein_coding	5/5			chr19	TogoVar
DMBT1_chr10_122555754_122648736	122555807	C C	CCTATCTA others(9): Show CCTATCTATCTATCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02027.hp1 HG02135.hp1 others(3): Show HG01099.hp1 HG02027.hp1 HG02135.hp1 HG02896.hp1 HG02897.hp2 HG04199.hp1	a0002 a0007 a0032 a0002 a0007 a0032	a0002c0002 a0007c0006 a0032c0031 a0002c0002 a0007c0006 a0032c0031	a0002c0002t0001 a0007c0006t0002 a0032c0031t0003 a0002c0002t0001 a0007c0006t0002 a0032c0031t0003	a0002c0002t0001g0019 a0002c0002t0001g0020 a0007c0006t0002g0006 others(1): Show a0002c0002t0001g0019 a0002c0002t0001g0020 a0007c0006t0002g0006 a0032c0031t0003g0013	6	282	0.0213	16	c.-49 others(27): Show c.-4964_-4963insCTATCTATCTATCTAT	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding		4946		chr10	TogoVar
DMBT1_chr10_122555754_122648736	122644022	G G	GGCTGTGA others(9): Show GGCTGTGATGCTGCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02630.hp2 others(1): Show HG01192.hp2 HG02109.hp1 HG02630.hp2 HG03130.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0005 a0016c0018t0001g0047 a0016c0018t0001g0049 a0016c0018t0001g0005 a0016c0018t0001g0047 a0016c0018t0001g0049	4	282	0.0142	16	c.62 others(25): Show c.624_*625insGCTGTGATGCTGCGCT	DMBT1	ENSG00000187908.20	transcript	ENST00000338354.10	protein_coding		287		chr10	TogoVar
DMBX1_chr1_46484836_46521216	46501192	C C	CCCTCCCT others(9): Show CCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG02293.hp1 others(1): Show HG01081.hp1 HG01261.hp2 HG02293.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0009 a0001c0004t0006 a0001c0004t0009	a0001c0004t0006g0071 a0001c0004t0006g0072 a0001c0004t0006g0081 others(1): Show a0001c0004t0006g0071 a0001c0004t0006g0072 a0001c0004t0006g0081 a0001c0004t0009g0059	4	430	0.0093	16	c.-12 others(33): Show c.-12-5804_-12-5803insCCCTTCCTTCCTTCCT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501192	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02602.hp1 HG02809.hp1 others(12): Show HG02004.hp1 HG02602.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 NA18747.hp1 NA18944.hp2 NA18959.hp2 NA18970.hp1 NA18979.hp1 NA18986.hp2 NA19080.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0005 a0001c0007 others(3): Show a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0002c0006 a0008c0011	a0001c0002t0003 a0001c0002t0004 a0001c0002t0037 others(6): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0037 a0001c0005t0007 a0001c0005t0049 a0001c0007t0003 a0001c0009t0031 a0002c0006t0012 a0008c0011t0003	a0001c0002t0003g0153 a0001c0002t0003g0168 a0001c0002t0003g0169 others(9): Show a0001c0002t0003g0153 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0004g0016 a0001c0002t0004g0123 a0001c0002t0037g0185 a0001c0005t0007g0103 a0001c0005t0049g0101 a0001c0007t0003g0035 a0001c0009t0031g0246 a0002c0006t0012g0198 a0008c0011t0003g0144	15	430	0.0349	16	c.-12 others(33): Show c.-12-5798_-12-5783dupCCTTCCTTCCTTCCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(9): Show CCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19087.hp1 HG02486.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0012 a0001c0001t0002 a0002c0006t0012	a0001c0001t0002g0222 a0002c0006t0012g0197 a0001c0001t0002g0222 a0002c0006t0012g0197	2	430	0.0047	16	c.-12 others(33): Show c.-12-5783_-12-5782insCCTTCCTTTCTTTCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTCCTT others(9): Show CCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02132.hp2 NA19082.hp2 HG01928.hp1 HG02132.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0034 a0001c0002t0008g0140 a0001c0002t0008g0034 a0001c0002t0008g0140	3	430	0.0070	16	c.-12 others(33): Show c.-12-5783_-12-5782insCCTTTCTTTCTTTCTT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46501213	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	430	0.0023	16	c.-12 others(33): Show c.-12-5743_-12-5728dupTTCTTTCTTTCTTTCT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMBX1_chr1_46484836_46521216	46520771	A A	AGCCAAAC others(9): Show AGCCAAACTGCTGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0031 a0001c0009t0031	a0001c0009t0031g0245 a0001c0009t0031g0245	1	430	0.0023	16	c.82 others(27): Show c.8277_*8278insGCCAAACTGCTGGCCT	DMBX1	ENSG00000197587.12	transcript	ENST00000360032.4	protein_coding		4556		chr1	TogoVar
DMC1_chr22_38513948_38575183	38521538	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0068 a0002c0002t0003g0068	1	324	0.0031	16	c.953 others(29): Show c.953+54_953+69dupGTGTGTGTGTGTGTGT	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	13/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31138686	A A	AGAGGGAG others(9): Show AGAGGGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03486.hp1 HG02683.hp1 HG03486.hp1	a0005 a0011 a0005 a0011	a0005c0053 a0011c0060 a0005c0053 a0011c0060	a0005c0053t0004 a0011c0060t0003 a0005c0053t0004 a0011c0060t0003	a0005c0053t0004g0103 a0011c0060t0003g0072 a0005c0053t0004g0103 a0011c0060t0003g0072	2	126	0.0159	16	c.109 others(37): Show c.10922-4493_10922-4492insACACTCTCTCTCCCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	76/78			chrX	TogoVar

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