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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
DLG4_chr17_7182187_7222627	7190963	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02451.hp2 others(7): Show HG01884.hp2 HG02055.hp1 HG02451.hp2 HG02572.hp1 HG02809.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0014 a0001c0001t0029 others(5): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0029 a0001c0001t0059 a0001c0001t0063 a0001c0001t0082 a0001c0001t0091 a0001c0002t0089	a0001c0001t0002g0303 a0001c0001t0002g0334 a0001c0001t0014g0193 others(7): Show a0001c0001t0002g0303 a0001c0001t0002g0334 a0001c0001t0014g0193 a0001c0001t0029g0194 a0001c0001t0029g0197 a0001c0001t0059g0337 a0001c0001t0063g0332 a0001c0001t0082g0326 a0001c0001t0091g0335 a0001c0002t0089g0205	10	376	0.0266	13	c.206 others(30): Show c.2069-162_2069-150dupAAAAAAAAAAAAA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding	19/19			chr17	TogoVar
DLG4_chr17_7182187_7222627	7211821	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0032 a0001c0001t0015g0032	1	376	0.0027	13	c.31- others(28): Show c.31-3595_31-3583dupCCCCCCCCCCCCC	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding	1/19			chr17	TogoVar
DLG5_chr10_77785791_77931755	77916915	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	331	0.0030	13	c.304 others(30): Show c.304+9301_304+9302insATATATATATATA	DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	1/31			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3551675	T T	TCTTTTCC others(6): Show TCTTTTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0033 a0001c0001t0020g0033	1	80	0.0125	13	c.205 others(34): Show c.2057+15814_2057+15815insGGGGAGGGAAAAG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3639755	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0014 a0001c0004t0002 a0001c0002t0014 a0001c0004t0002	a0001c0002t0014g0064 a0001c0004t0002g0035 a0001c0002t0014g0064 a0001c0004t0002g0035	2	80	0.0250	13	c.159 others(34): Show c.1592-57520_1592-57508dupAAAAAAAAAAAAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3720888	C C	CCAAAAAA others(6): Show CCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0060 a0001c0001t0013g0060	1	80	0.0125	13	c.159 others(32): Show c.1591+8246_1591+8247insTTTTTTTTTTTTG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3893942	G G	GTTTTAAT others(6): Show GTTTTAATTTGCAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp1 HG03098.hp2 others(4): Show HG02572.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03471.hp2 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0008 a0001c0001t0037 a0001c0001t0042 others(4): Show a0001c0001t0008 a0001c0001t0037 a0001c0001t0042 a0001c0002t0008 a0001c0002t0034 a0001c0003t0019 a0001c0004t0036	a0001c0001t0008g0045 a0001c0001t0037g0063 a0001c0001t0042g0080 others(4): Show a0001c0001t0008g0045 a0001c0001t0037g0063 a0001c0001t0042g0080 a0001c0002t0008g0037 a0001c0002t0034g0069 a0001c0003t0019g0006 a0001c0004t0036g0070	7	80	0.0875	13	c.-72 others(32): Show c.-72-13815_-72-13803dupATGCAAATTAAAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	3/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4045432	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02622.hp1 others(2): Show HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02717.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0032	a0001c0001t0001g0044 a0001c0001t0003g0059 a0001c0001t0003g0076 others(2): Show a0001c0001t0001g0044 a0001c0001t0003g0059 a0001c0001t0003g0076 a0001c0002t0001g0039 a0001c0004t0032g0065	5	80	0.0625	13	c.-15 others(34): Show c.-158-40244_-158-40232dupTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4367004	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0073 a0001c0006t0013g0073	1	80	0.0125	13	c.-26 others(34): Show c.-267+87989_-267+88001dupTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	736421	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02258.hp1 HG02922.hp1 others(3): Show HG02074.hp2 HG02258.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03492.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0005 a0001c0002 a0002c0001 a0003c0005	a0001c0002t0002 a0001c0002t0009 a0002c0001t0002 others(3): Show a0001c0002t0002 a0001c0002t0009 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019 a0003c0005t0002	a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0002g0032 others(3): Show a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0002g0032 a0002c0001t0005g0028 a0002c0001t0019g0030 a0003c0005t0002g0031	6	40	0.1500	13	c.-13 others(24): Show c.-1387_-1386insTTTTTTTTTTTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding		1206		chr8	TogoVar
DLGAP2_chr8_732628_1713476	856185	C C	CTTCTTCT others(6): Show CTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	13	c.19- others(30): Show c.19-51725_19-51724insCTTCTTCTTCTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	960237	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	13	c.73+ others(30): Show c.73+52274_73+52286dupTTTTTTTTTTTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1042777	A A	ATGTGGGT others(6): Show ATGTGGGTGGTGGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01361.hp2 others(10): Show HG00639.hp2 HG01071.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG02071.hp1 HG02647.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG03486.hp2 HG03516.hp2 HG03710.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(6): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0003c0005	a0001c0002t0010 a0001c0002t0023 a0001c0003t0001 others(9): Show a0001c0002t0010 a0001c0002t0023 a0001c0003t0001 a0001c0003t0014 a0001c0003t0017 a0001c0009t0012 a0001c0010t0025 a0002c0001t0011 a0002c0004t0026 a0002c0006t0021 a0002c0007t0008 a0003c0005t0004	a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0003t0001g0026 others(10): Show a0001c0002t0010g0008 a0001c0002t0023g0005 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0009t0012g0006 a0001c0010t0025g0012 a0002c0001t0011g0001 a0002c0004t0026g0016 a0002c0006t0021g0014 a0002c0007t0008g0040 a0003c0005t0004g0037	13	40	0.3250	13	c.73+ others(32): Show c.73+134837_73+134849dupGTGTGGGTGGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1156610	C C	CCCAGCCC others(6): Show CCCAGCCCAGCGCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp1 HG02922.hp1 NA18906.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0008 a0003c0005 a0004c0008	a0003c0005t0002 a0004c0008t0016 a0003c0005t0002 a0004c0008t0016	a0003c0005t0002g0031 a0004c0008t0016g0029 a0003c0005t0002g0031 a0004c0008t0016g0029	2	40	0.0500	13	c.74- others(32): Show c.74-102229_74-102228insTCCAGCCCAGCGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1156629	C C	CCAGCGCC others(6): Show CCAGCGCCCCAGCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01071.hp1 others(28): Show HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02258.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG03710.hp2 NA18906.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(6): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0002c0001 a0002c0004 a0002c0006 a0002c0007 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(25): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0014 a0001c0003t0024 a0001c0009t0012 a0001c0010t0025 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0006t0021 a0002c0007t0008 a0003c0005t0004	a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0006g0011 others(28): Show a0001c0002t0001g0019 a0001c0002t0002g0021 a0001c0002t0006g0011 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0022g0034 a0001c0002t0023g0005 a0001c0002t0027g0023 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0006g0033 a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0003t0024g0003 a0001c0009t0012g0006 a0001c0010t0025g0012 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0035 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0006t0021g0014 a0002c0007t0008g0040 a0003c0005t0004g0037	31	40	0.7750	13	c.74- others(32): Show c.74-102213_74-102212insAGCTCAGCGCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1156629	C C	CCAGCGCC others(6): Show CCAGCGCCCCGGCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02895.hp1 others(2): Show HG02258.hp1 HG02647.hp1 HG02895.hp1 HG02976.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0011 others(1): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0003t0017 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0017 a0001c0011t0015 a0002c0001t0005	a0001c0002t0001g0015 a0001c0003t0001g0027 a0001c0003t0017g0004 others(2): Show a0001c0002t0001g0015 a0001c0003t0001g0027 a0001c0003t0017g0004 a0001c0011t0015g0002 a0002c0001t0005g0028	5	40	0.1250	13	c.74- others(32): Show c.74-102212_74-102200dupGGCTCAGCGCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1267627	T T	TAAAATAA others(6): Show TAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0002c0007 a0003c0005 a0002c0001 a0002c0007 a0003c0005	a0002c0001t0019 a0002c0007t0008 a0003c0005t0002 a0002c0001t0019 a0002c0007t0008 a0003c0005t0002	a0002c0001t0019g0030 a0002c0007t0008g0040 a0003c0005t0002g0031 a0002c0001t0019g0030 a0002c0007t0008g0040 a0003c0005t0002g0031	3	40	0.0750	13	c.106 others(30): Show c.106+8745_106+8746insAAATAAAATAAAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1373243	C C	CCGCCACG others(6): Show CCGCCACGCGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0040 a0002c0007t0008g0040	1	40	0.0250	13	c.106 others(34): Show c.106+114361_106+114362insGCCACGCGTGTGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1690703	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	13	c.270 others(30): Show c.2705-818_2705-806dupAAAAAAAAAAAAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP4_chr20_36301339_36533633	36467064	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19240.hp1 HG02145.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0121 a0001c0001t0002g0094 a0001c0001t0002g0121	2	144	0.0139	13	c.164 others(34): Show c.1648+20127_1648+20128insTCTCTCTCTCTCT	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	7/12			chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36525216	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02257.hp2 HG01361.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0092 a0001c0001t0001g0012 a0001c0001t0001g0092	2	144	0.0139	13	c.260 others(30): Show c.2605-609_2605-597dupAAAAAAAAAAAAA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLK1_chr14_100721892_100743224	100740364	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG02273.hp2 HG02300.hp2 others(6): Show HG01928.hp1 HG02273.hp2 HG02300.hp2 HG03942.hp1 NA18943.hp2 NA18950.hp1 NA18952.hp1 NA18967.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0002g0002 a0001c0001t0007g0051 a0002c0012t0002g0006	9	424	0.0212	13	c.54 others(24): Show c.5468_*5469insTTTTTTTTTTTTT	DLK1	ENSG00000185559.16	transcript	ENST00000341267.9	protein_coding		2141		chr14	TogoVar
DLST_chr14_74876916_74908743	74878703	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0118 a0001c0003t0003g0118	1	392	0.0026	13	c.-32 others(24): Show c.-3251_-3250insTGTGTGTGTGTGT	DLST	ENSG00000119689.15	transcript	ENST00000334220.9	protein_coding		3212		chr14	TogoVar
DLST_chr14_74876916_74908743	74900973	G G	GGCTCAGG others(6): Show GGCTCAGGGTCTCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	392	0.0026	13	c.106 others(28): Show c.1060-93_1060-92insGCTCAGGGTCTCT	DLST	ENSG00000119689.15	transcript	ENST00000334220.9	protein_coding	13/14			chr14	TogoVar
DLX3_chr17_49985005_50000224	49995465	C C	CACACACA others(6): Show CACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 NA18971.hp1 NA18988.hp1 others(1): Show HG03927.hp2 NA18971.hp1 NA18988.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0004 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0007g0007 a0001c0002t0004g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0007g0007 a0001c0002t0004g0004 a0001c0008t0001g0051	4	438	0.0091	13	c.-46 others(22): Show c.-468_-467insTGTGTGTGTGTGT	DLX3	ENSG00000064195.7	transcript	ENST00000434704.2	protein_coding		242		chr17	TogoVar
DLX5_chr7_97015396_97029831	97016224	A A	AAACACAC others(6): Show AAACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	448	0.0022	13	c.45 others(24): Show c.4511_*4512insGTGTGTGTGTGTT	DLX5	ENSG00000105880.7	transcript	ENST00000648378.1	protein_coding		4171		chr7	TogoVar
DLX5_chr7_97015396_97029831	97016224	A A	ACACACAC others(6): Show ACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01943.hp2 HG02647.hp2 others(4): Show HG00733.hp2 HG01943.hp2 HG02647.hp2 HG03516.hp1 NA18959.hp2 NA19064.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0031	7	448	0.0156	13	c.45 others(24): Show c.4511_*4512insGTGTGTGTGTGTG	DLX5	ENSG00000105880.7	transcript	ENST00000648378.1	protein_coding		4171		chr7	TogoVar
DMAC1_chr9_7791500_7804778	7799994	G G	GCCCCCCC others(6): Show GCCCCCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01106.hp1 others(31): Show HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01256.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp2 HG02056.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02738.hp2 HG03098.hp1 HG03098.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp2 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18995.hp2 NA19000.hp1 NA19005.hp1 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0046 a0001c0006t0002 a0002c0002t0001 a0002c0002t0006 a0002c0002t0017 a0002c0002t0021	a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0003g0014 others(10): Show a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0003g0014 a0001c0001t0006g0009 a0001c0001t0009g0007 a0001c0001t0012g0015 a0001c0001t0014g0017 a0001c0001t0046g0082 a0001c0006t0002g0073 a0002c0002t0001g0001 a0002c0002t0006g0054 a0002c0002t0017g0021 a0002c0002t0021g0028	34	474	0.0717	13	c.-26 others(22): Show c.-261_-260insGGGCGGGGGGGGG	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding		217		chr9	TogoVar
DMAC1_chr9_7791500_7804778	7799994	G G	GCCCCCCC others(6): Show GCCCCCCCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG01192.hp1 others(19): Show HG00423.hp1 HG00735.hp1 HG01192.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp2 HG02572.hp2 HG02683.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03710.hp2 HG03831.hp2 NA18949.hp1 NA18960.hp2 NA19007.hp1 NA19010.hp1 NA19064.hp2 NA19079.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0003t0002 a0002c0002t0001 a0002c0002t0017	a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0009g0007 others(4): Show a0001c0001t0001g0008 a0001c0001t0002g0004 a0001c0001t0009g0007 a0001c0001t0012g0015 a0001c0003t0002g0020 a0002c0002t0001g0001 a0002c0002t0017g0021	22	474	0.0464	13	c.-27 others(22): Show c.-273_-261dupGGGGCGGGGGGGG	DMAC1	ENSG00000137038.8	transcript	ENST00000358227.5	protein_coding		217		chr9	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp1 HG06807.hp2 HG02109.hp2 HG03098.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085	3	324	0.0093	13	c.327 others(30): Show c.327-2560_327-2548dupAAAAAAAAAAAAA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31141642	G G	GGTATGGA others(6): Show GGTATGGAAGGTAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00621.hp1 others(81): Show HG00140.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19058.hp1 NA19066.hp1 NA19070.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0027 a0029 a0030 a0031 a0033 a0035 a0036	a0001c0001 a0001c0002 a0001c0022 others(39): Show a0001c0001 a0001c0002 a0001c0022 a0001c0054 a0002c0005 a0002c0016 a0002c0020 a0003c0003 a0003c0014 a0003c0062 a0004c0004 a0004c0011 a0004c0055 a0005c0007 a0005c0045 a0005c0057 a0006c0006 a0007c0018 a0007c0019 a0008c0010 a0009c0013 a0011c0049 a0012c0040 a0012c0048 a0013c0015 a0014c0017 a0015c0043 a0015c0056 a0016c0028 a0017c0027 a0018c0061 a0019c0033 a0020c0034 a0021c0035 a0022c0025 a0027c0058 a0029c0044 a0030c0037 a0031c0047 a0033c0050 a0035c0029 a0036c0021	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 others(47): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0002t0001 a0001c0022t0001 a0001c0054t0001 a0002c0005t0001 a0002c0005t0007 a0002c0016t0001 a0002c0016t0009 a0002c0020t0030 a0003c0003t0001 a0003c0014t0001 a0003c0062t0001 a0004c0004t0001 a0004c0011t0001 a0004c0055t0001 a0005c0007t0001 a0005c0007t0007 a0005c0045t0018 a0005c0057t0001 a0006c0006t0001 a0006c0006t0008 a0007c0018t0001 a0007c0019t0001 a0008c0010t0001 a0008c0010t0009 a0009c0013t0001 a0009c0013t0022 a0011c0049t0001 a0012c0040t0001 a0012c0048t0001 a0013c0015t0001 a0014c0017t0001 a0015c0043t0001 a0015c0056t0021 a0016c0028t0005 a0017c0027t0001 a0018c0061t0001 a0019c0033t0001 a0020c0034t0001 a0021c0035t0001 a0022c0025t0006 a0027c0058t0019 a0029c0044t0014 a0030c0037t0005 a0031c0047t0005 a0033c0050t0001 a0035c0029t0001 a0036c0021t0017	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0026 others(81): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0008g0021 a0001c0001t0016g0038 a0001c0002t0001g0025 a0001c0002t0001g0051 a0001c0002t0001g0058 a0001c0002t0001g0074 a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0115 a0001c0022t0001g0036 a0001c0054t0001g0100 a0002c0005t0001g0022 a0002c0005t0001g0040 a0002c0005t0001g0049 a0002c0005t0007g0092 a0002c0016t0001g0060 a0002c0016t0009g0014 a0002c0020t0030g0125 a0003c0003t0001g0027 a0003c0003t0001g0033 a0003c0003t0001g0050 a0003c0003t0001g0067 a0003c0014t0001g0059 a0003c0062t0001g0078 a0004c0004t0001g0006 a0004c0004t0001g0041 a0004c0004t0001g0064 a0004c0004t0001g0083 a0004c0004t0001g0087 a0004c0011t0001g0034 a0004c0011t0001g0085 a0004c0055t0001g0007 a0005c0007t0001g0079 a0005c0007t0001g0120 a0005c0007t0007g0063 a0005c0045t0018g0118 a0005c0057t0001g0109 a0006c0006t0001g0001 a0006c0006t0001g0019 a0006c0006t0001g0047 a0006c0006t0008g0031 a0007c0018t0001g0068 a0007c0018t0001g0099 a0007c0019t0001g0052 a0007c0019t0001g0061 a0008c0010t0001g0042 a0008c0010t0001g0044 a0008c0010t0009g0004 a0009c0013t0001g0017 a0009c0013t0022g0066 a0011c0049t0001g0073 a0012c0040t0001g0048 a0012c0048t0001g0057 a0013c0015t0001g0030 a0014c0017t0001g0107 a0014c0017t0001g0114 a0015c0043t0001g0112 a0015c0056t0021g0045 a0016c0028t0005g0028 a0017c0027t0001g0124 a0018c0061t0001g0003 a0019c0033t0001g0089 a0020c0034t0001g0013 a0021c0035t0001g0106 a0022c0025t0006g0108 a0027c0058t0019g0116 a0029c0044t0014g0094 a0030c0037t0005g0082 a0031c0047t0005g0081 a0033c0050t0001g0119 a0035c0029t0001g0071 a0036c0021t0017g0009	84	126	0.6667	13	c.109 others(34): Show c.10921+4648_10921+4649insTTACCTTCCATAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	76/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31214937	C C	CTTTTTTC others(6): Show CTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG02015.hp1 others(1): Show HG00642.hp1 HG01109.hp1 HG02015.hp1 HG02976.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0004c0004 a0005c0057 a0001c0002 a0004c0004 a0005c0057	a0001c0002t0001 a0004c0004t0001 a0005c0057t0001 a0001c0002t0001 a0004c0004t0001 a0005c0057t0001	a0001c0002t0001g0105 a0004c0004t0001g0064 a0004c0004t0001g0083 others(1): Show a0001c0002t0001g0105 a0004c0004t0001g0064 a0004c0004t0001g0083 a0005c0057t0001g0109	4	126	0.0318	13	c.936 others(32): Show c.9362-5239_9362-5238insAAAAAAGAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	64/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31266159	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03098.hp1 HG01358.hp1 HG03098.hp1	a0002 a0003 a0002 a0003	a0002c0020 a0003c0003 a0002c0020 a0003c0003	a0002c0020t0028 a0003c0003t0001 a0002c0020t0028 a0003c0003t0001	a0002c0020t0028g0010 a0003c0003t0001g0033 a0002c0020t0028g0010 a0003c0003t0001g0033	2	126	0.0159	13	c.922 others(32): Show c.9225-5156_9225-5144dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31289251	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	126	0.0079	13	c.922 others(34): Show c.9225-28248_9225-28236dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31351725	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19000.hp1 NA19005.hp1 others(1): Show HG02698.hp1 NA19000.hp1 NA19005.hp1 NA19062.hp1	a0004 a0006 a0007 others(1): Show a0004 a0006 a0007 a0013	a0004c0004 a0006c0006 a0007c0018 others(1): Show a0004c0004 a0006c0006 a0007c0018 a0013c0015	a0004c0004t0002 a0006c0006t0001 a0007c0018t0001 others(1): Show a0004c0004t0002 a0006c0006t0001 a0007c0018t0001 a0013c0015t0001	a0004c0004t0002g0086 a0006c0006t0001g0047 a0007c0018t0001g0068 others(1): Show a0004c0004t0002g0086 a0006c0006t0001g0047 a0007c0018t0001g0068 a0013c0015t0001g0030	4	126	0.0318	13	c.908 others(32): Show c.9085-3104_9085-3092dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31453765	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0032 a0032	a0032c0036 a0032c0036	a0032c0036t0004 a0032c0036t0004	a0032c0036t0004g0011 a0032c0036t0004g0011	1	126	0.0079	13	c.893 others(32): Show c.8938-9151_8938-9139dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31473720	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG01934.hp1 others(3): Show HG00738.hp1 HG01256.hp1 HG01934.hp1 HG02451.hp1 NA18948.hp1 NA18970.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0008 a0018	a0001c0001 a0003c0003 a0004c0004 others(3): Show a0001c0001 a0003c0003 a0004c0004 a0004c0011 a0008c0010 a0018c0061	a0001c0001t0016 a0003c0003t0002 a0004c0004t0001 others(3): Show a0001c0001t0016 a0003c0003t0002 a0004c0004t0001 a0004c0011t0001 a0008c0010t0001 a0018c0061t0001	a0001c0001t0016g0038 a0003c0003t0002g0043 a0004c0004t0001g0087 others(3): Show a0001c0001t0016g0038 a0003c0003t0002g0043 a0004c0004t0001g0087 a0004c0011t0001g0034 a0008c0010t0001g0042 a0018c0061t0001g0003	6	126	0.0476	13	c.893 others(32): Show c.8937+4385_8937+4386insCTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31499489	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0010 a0003c0014t0010	a0003c0014t0010g0015 a0003c0014t0010g0015	1	126	0.0079	13	c.839 others(32): Show c.8391-2558_8391-2546dupAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	56/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31511336	A A	ATTTATTT others(6): Show ATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01109.hp1 others(11): Show HG00642.hp1 HG01074.hp1 HG01109.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02572.hp1 HG03225.hp1 NA18747.hp1 NA19012.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0027	a0001c0001 a0001c0022 a0002c0005 others(7): Show a0001c0001 a0001c0022 a0002c0005 a0002c0009 a0003c0003 a0003c0014 a0004c0004 a0005c0007 a0006c0006 a0027c0058	a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0022t0001 a0002c0005t0001 a0002c0009t0001 a0003c0003t0027 a0003c0014t0010 a0004c0004t0001 a0005c0007t0001 a0006c0006t0001 a0027c0058t0019	a0001c0001t0001g0018 a0001c0001t0001g0090 a0001c0001t0004g0101 others(11): Show a0001c0001t0001g0018 a0001c0001t0001g0090 a0001c0001t0004g0101 a0001c0022t0001g0036 a0002c0005t0001g0049 a0002c0009t0001g0065 a0003c0003t0027g0091 a0003c0014t0010g0015 a0004c0004t0001g0041 a0004c0004t0001g0064 a0004c0004t0001g0083 a0005c0007t0001g0079 a0006c0006t0001g0001 a0027c0058t0019g0116	14	126	0.1111	13	c.821 others(32): Show c.8218-3884_8218-3883insATAAATAAATAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GGGTGTGT others(6): Show GGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03209.hp1 HG01109.hp1 HG03209.hp1	a0002 a0004 a0002 a0004	a0002c0026 a0004c0004 a0002c0026 a0004c0004	a0002c0026t0006 a0004c0004t0001 a0002c0026t0006 a0004c0004t0001	a0002c0026t0006g0111 a0004c0004t0001g0083 a0002c0026t0006g0111 a0004c0004t0001g0083	2	126	0.0159	13	c.720 others(32): Show c.7201-2571_7201-2570insACACACACACACC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02129.hp1 NA18945.hp1 others(1): Show HG02055.hp1 HG02129.hp1 NA18945.hp1 NA18990.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0021	a0001c0001 a0002c0016 a0003c0008 others(1): Show a0001c0001 a0002c0016 a0003c0008 a0021c0035	a0001c0001t0001 a0002c0016t0009 a0003c0008t0015 others(1): Show a0001c0001t0001 a0002c0016t0009 a0003c0008t0015 a0021c0035t0001	a0001c0001t0001g0076 a0002c0016t0009g0014 a0003c0008t0015g0123 others(1): Show a0001c0001t0001g0076 a0002c0016t0009g0014 a0003c0008t0015g0123 a0021c0035t0001g0106	4	126	0.0318	13	c.720 others(32): Show c.7201-2571_7201-2570insACACACACACACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31943928	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0025 a0025	a0025c0039 a0025c0039	a0025c0039t0003 a0025c0039t0003	a0025c0039t0003g0075 a0025c0039t0003g0075	1	126	0.0079	13	c.661 others(34): Show c.6615-11702_6615-11701insCTCTCTCTCTCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	45/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31961740	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0017 a0009c0013t0001g0017	1	126	0.0079	13	c.661 others(32): Show c.6614+6586_6614+6598dupAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	45/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32132993	C C	CTTTTCTT others(6): Show CTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0092 a0002c0005t0007g0092	1	126	0.0079	13	c.643 others(34): Show c.6438+83922_6438+83923insAAAAAAAAGAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32292302	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02129.hp1 HG02135.hp1 others(14): Show HG01433.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp2 HG02735.hp1 HG03139.hp1 HG03209.hp1 HG03710.hp1 HG04115.hp1 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18959.hp1 NA18977.hp1 NA18983.hp1 NA19004.hp1 NA19012.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0021 a0026 a0030	a0001c0001 a0001c0002 a0002c0026 others(10): Show a0001c0001 a0001c0002 a0002c0026 a0003c0003 a0003c0008 a0003c0062 a0004c0004 a0005c0045 a0006c0006 a0009c0013 a0021c0035 a0026c0042 a0030c0037	a0001c0001t0001 a0001c0002t0001 a0002c0026t0006 others(11): Show a0001c0001t0001 a0001c0002t0001 a0002c0026t0006 a0003c0003t0001 a0003c0008t0023 a0003c0062t0001 a0004c0004t0001 a0005c0045t0018 a0006c0006t0001 a0006c0006t0008 a0009c0013t0022 a0021c0035t0001 a0026c0042t0024 a0030c0037t0005	a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0090 others(14): Show a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0090 a0001c0002t0001g0074 a0001c0002t0001g0115 a0002c0026t0006g0111 a0003c0003t0001g0067 a0003c0008t0023g0005 a0003c0062t0001g0078 a0004c0004t0001g0041 a0005c0045t0018g0118 a0006c0006t0001g0001 a0006c0006t0008g0031 a0009c0013t0022g0066 a0021c0035t0001g0106 a0026c0042t0024g0070 a0030c0037t0005g0082	17	126	0.1349	13	c.611 others(32): Show c.6118-4614_6118-4602dupAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0083 a0004c0004t0001g0083	1	126	0.0079	13	c.592 others(32): Show c.5923-2679_5923-2667dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32388341	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG01255.hp1 others(5): Show HG01074.hp1 HG01167.hp1 HG01255.hp1 HG02258.hp1 HG02647.hp1 HG02922.hp1 HG02922.hp2 NA19043.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0010 a0017	a0002c0005 a0002c0012 a0003c0003 others(3): Show a0002c0005 a0002c0012 a0003c0003 a0005c0007 a0010c0031 a0017c0027	a0002c0005t0001 a0002c0005t0007 a0002c0012t0002 others(4): Show a0002c0005t0001 a0002c0005t0007 a0002c0012t0002 a0003c0003t0027 a0005c0007t0002 a0010c0031t0001 a0017c0027t0001	a0002c0005t0001g0040 a0002c0005t0001g0049 a0002c0005t0007g0092 others(5): Show a0002c0005t0001g0040 a0002c0005t0001g0049 a0002c0005t0007g0092 a0002c0012t0002g0122 a0003c0003t0027g0091 a0005c0007t0002g0093 a0010c0031t0001g0096 a0017c0027t0001g0124	8	126	0.0635	13	c.451 others(32): Show c.4518+1147_4518+1159dupAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	32/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32418972	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0028 a0028	a0028c0046 a0028c0046	a0028c0046t0029 a0028c0046t0029	a0028c0046t0029g0126 a0028c0046t0029g0126	1	126	0.0079	13	c.407 others(32): Show c.4072-7072_4072-7060dupTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32429386	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01167.hp1 HG02055.hp1 others(3): Show HG01074.hp1 HG01167.hp1 HG02055.hp1 HG02647.hp1 HG02922.hp2 HG03098.hp1	a0002 a0003 a0017 a0002 a0003 a0017	a0002c0005 a0002c0020 a0003c0008 others(1): Show a0002c0005 a0002c0020 a0003c0008 a0017c0027	a0002c0005t0001 a0002c0005t0007 a0002c0020t0028 others(2): Show a0002c0005t0001 a0002c0005t0007 a0002c0020t0028 a0003c0008t0015 a0017c0027t0001	a0002c0005t0001g0040 a0002c0005t0001g0049 a0002c0005t0007g0092 others(3): Show a0002c0005t0001g0040 a0002c0005t0001g0049 a0002c0005t0007g0092 a0002c0020t0028g0010 a0003c0008t0015g0123 a0017c0027t0001g0124	6	126	0.0476	13	c.407 others(32): Show c.4071+8854_4071+8855insAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32485734	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01943.hp1 HG02293.hp1 others(2): Show HG01515.hp1 HG01943.hp1 HG02293.hp1 HG03195.hp2 HG03688.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0014	a0001c0002 a0002c0009 a0005c0007 others(2): Show a0001c0002 a0002c0009 a0005c0007 a0005c0023 a0014c0017	a0001c0002t0002 a0002c0009t0010 a0005c0007t0001 others(2): Show a0001c0002t0002 a0002c0009t0010 a0005c0007t0001 a0005c0023t0020 a0014c0017t0001	a0001c0002t0002g0056 a0002c0009t0010g0023 a0005c0007t0001g0079 others(2): Show a0001c0002t0002g0056 a0002c0009t0010g0023 a0005c0007t0001g0079 a0005c0023t0020g0110 a0014c0017t0001g0107	5	126	0.0397	13	c.262 others(30): Show c.2623-648_2623-636dupAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	20/78			chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)