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
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	348	0.0029	21	c.510 others(40): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIXDC1_chr11_111932343_112027653	111950438	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18979.hp1 HG02300.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0209 a0001c0001t0002g0198 a0001c0001t0002g0209	2	278	0.0072	21	c.60+ others(38): Show c.60+12880_60+12881insATATATATATATATATATATT	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DIXDC1_chr11_111932343_112027653	111950438	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0237 a0001c0001t0008g0237	1	278	0.0036	21	c.60+ others(38): Show c.60+12880_60+12881insATATATATATATATTTTTTTT	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DIXDC1_chr11_111932343_112027653	111950439	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18989.hp2 NA18982.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0262 a0001c0001t0002g0204 a0001c0001t0001g0262 a0001c0001t0002g0204	2	278	0.0072	21	c.60+ others(38): Show c.60+12880_60+12881insATATATATATATATATATATA	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding	1/19			chr11	TogoVar
DKK2_chr4_106916802_107041313	106983368	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02559.hp1 NA20805.hp2 HG01167.hp2 HG02559.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0020 a0002c0002t0001 a0001c0001t0006 a0001c0001t0020 a0002c0002t0001	a0001c0001t0006g0036 a0001c0001t0020g0103 a0002c0002t0001g0138 a0001c0001t0006g0036 a0001c0001t0020g0103 a0002c0002t0001g0138	3	218	0.0138	21	c.222 others(40): Show c.222+52001_222+52002insTCTTTCTTTCTTTCTTTCTTT	DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding	1/3			chr4	TogoVar
DKK2_chr4_106916802_107041313	107027756	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02486.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0194 a0001c0001t0001g0085 a0001c0001t0001g0194	2	218	0.0092	21	c.222 others(38): Show c.222+7613_222+7614insAAAAAAAAAAAAAAAAAAAAA	DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding	1/3			chr4	TogoVar
DKK4_chr8_42369063_42382229	42379351	C C	CTATATAT others(14): Show CTATATATAATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	21	c.-23 others(32): Show c.-2307_-2306insTATATATATATATTATATATA	DKK4	ENSG00000104371.5	transcript	ENST00000220812.3	protein_coding		2123		chr8	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0283 a0002c0002t0002g0283	1	336	0.0030	21	c.51 others(32): Show c.5150_*5151insAAAAAAAAAAAAAATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	336	0.0030	21	c.51 others(32): Show c.5150_*5151insAAAAAAAATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0019 a0019	a0019c0044 a0019c0044	a0019c0044t0010 a0019c0044t0010	a0019c0044t0010g0067 a0019c0044t0010g0067	1	212	0.0047	21	c.134 others(40): Show c.1349-4700_1349-4699insATATATATTTTTTTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp2 HG02970.hp2 others(1): Show HG02258.hp1 HG02896.hp2 HG02970.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0015 a0002c0002t0041 a0002c0002t0010 a0002c0002t0015 a0002c0002t0041	a0002c0002t0010g0013 a0002c0002t0010g0096 a0002c0002t0015g0188 others(1): Show a0002c0002t0010g0013 a0002c0002t0010g0096 a0002c0002t0015g0188 a0002c0002t0041g0040	4	212	0.0189	21	c.134 others(40): Show c.1349-4700_1349-4699insATATATATATTTTTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01074.hp1 others(14): Show HG00140.hp1 HG00280.hp2 HG01074.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01516.hp2 HG02486.hp1 HG02523.hp2 HG03017.hp1 HG03688.hp1 NA19007.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0014	a0001c0001 a0001c0015 a0005c0008 others(2): Show a0001c0001 a0001c0015 a0005c0008 a0007c0009 a0014c0047	a0001c0001t0001 a0001c0001t0009 a0001c0015t0001 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0015t0001 a0005c0008t0001 a0007c0009t0006 a0014c0047t0006	a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0071 others(14): Show a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0009g0106 a0001c0015t0001g0104 a0001c0015t0001g0108 a0001c0015t0001g0122 a0005c0008t0001g0176 a0005c0008t0001g0182 a0007c0009t0006g0143 a0014c0047t0006g0161	17	212	0.0802	21	c.134 others(40): Show c.1349-4700_1349-4699insATATATATATATATTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp1 HG00423.hp2 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0205 a0001c0001t0012g0210 a0001c0001t0012g0205 a0001c0001t0012g0210	2	212	0.0094	21	c.134 others(40): Show c.1349-4700_1349-4699insATATATATATATATATTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13297282	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00558.hp2 others(10): Show HG00099.hp2 HG00140.hp2 HG00558.hp2 HG01074.hp2 HG01258.hp2 HG01361.hp2 HG01975.hp1 HG02080.hp1 HG02273.hp1 HG03942.hp1 NA18970.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0019 a0002c0002 a0002c0042 others(4): Show a0001c0019 a0002c0002 a0002c0042 a0003c0003 a0004c0005 a0005c0008 a0007c0009	a0001c0019t0001 a0002c0002t0002 a0002c0002t0051 others(6): Show a0001c0019t0001 a0002c0002t0002 a0002c0002t0051 a0002c0042t0020 a0003c0003t0004 a0004c0005t0002 a0005c0008t0001 a0007c0009t0005 a0007c0009t0006	a0001c0019t0001g0045 a0002c0002t0002g0130 a0002c0002t0051g0204 others(10): Show a0001c0019t0001g0045 a0002c0002t0002g0130 a0002c0002t0051g0204 a0002c0042t0020g0203 a0003c0003t0004g0138 a0003c0003t0004g0150 a0004c0005t0002g0170 a0004c0005t0002g0172 a0004c0005t0002g0175 a0004c0005t0002g0179 a0005c0008t0001g0176 a0007c0009t0005g0133 a0007c0009t0006g0146	13	212	0.0613	21	c.134 others(40): Show c.1348+7986_1348+7987insTTTTTTTTTTTTTTTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13413256	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18989.hp2 NA18983.hp2 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0039 a0002c0006t0049 a0001c0001t0039 a0002c0006t0049	a0001c0001t0039g0073 a0002c0006t0049g0206 a0001c0001t0039g0073 a0002c0006t0049g0206	2	212	0.0094	21	c.102 others(42): Show c.1024-11658_1024-11638dupAAAAAAAAAAAAAAAAAAAAA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13496785	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18986.hp1 NA18612.hp2 NA18986.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0008 a0004c0005 a0005c0008	a0004c0005t0033 a0005c0008t0001 a0004c0005t0033 a0005c0008t0001	a0004c0005t0033g0184 a0005c0008t0001g0116 a0004c0005t0033g0184 a0005c0008t0001g0116	2	212	0.0094	21	c.102 others(40): Show c.1023+2263_1023+2264insAAAAAAAAAAAAAAAAAAAAA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197041458	C C	CATCATTA others(14): Show CATCATTATTATTATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	332	0.0030	21	c.31 others(32): Show c.3164_*3165insAATAATAATAATAATAATGAT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding		1101		chr3	TogoVar
DLG1_chr3_197037560_197303612	197041480	A A	ATTATTAT others(14): Show ATTATTATTATTATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA20752.hp2 NA18990.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0029 a0001c0001t0001g0072	2	332	0.0060	21	c.31 others(32): Show c.3142_*3143insAAAAAAAAATAATAATAATAA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding		1079		chr3	TogoVar
DLG1_chr3_197037560_197303612	197041480	A A	ATTATTAT others(14): Show ATTATTATTATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	332	0.0030	21	c.31 others(32): Show c.3142_*3143insAAAAAAAAAAAATAATAATAA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding		1079		chr3	TogoVar
DLG1_chr3_197037560_197303612	197127453	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	332	0.0030	21	c.116 others(40): Show c.1165+3073_1165+3074insATATATATATATATATATATA	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197158634	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG02809.hp2 others(1): Show HG01884.hp2 HG02572.hp2 HG02809.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0001 a0001c0001t0004 a0001c0004t0001	a0001c0001t0004g0284 a0001c0004t0001g0264 a0001c0004t0001g0265 others(1): Show a0001c0001t0004g0284 a0001c0004t0001g0264 a0001c0004t0001g0265 a0001c0004t0001g0266	4	332	0.0121	21	c.484 others(38): Show c.484-8859_484-8839dupTTTTTTTTTTTTTTTTTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	5/24			chr3	TogoVar
DLGAP1_chr18_3491032_4460307	3551675	T T	TCTTTTCC others(14): Show TCTTTTCCCTCCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0035 a0001c0004t0002g0035	1	80	0.0125	21	c.205 others(42): Show c.2057+15814_2057+15815insGGGAGGGAGGGGAGGGAAAAG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3888114	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	80	0.0125	21	c.-72 others(38): Show c.-72-7975_-72-7974insGTTTTTTTTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	3/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4082510	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19030.hp1 NA20300.hp2 HG02451.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0031 a0001c0003t0033 a0001c0001t0002 a0001c0002t0031 a0001c0003t0033	a0001c0001t0002g0017 a0001c0002t0031g0061 a0001c0003t0033g0077 a0001c0001t0002g0017 a0001c0002t0031g0061 a0001c0003t0033g0077	3	80	0.0375	21	c.-15 others(42): Show c.-159+68649_-159+68669dupTTTTTTTTTTTTTTTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	960237	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02071.hp2 HG03492.hp1 others(1): Show HG01891.hp2 HG02071.hp2 HG03492.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0012 a0002c0001 a0001c0003 a0001c0012 a0002c0001	a0001c0003t0013 a0001c0003t0014 a0001c0012t0004 others(1): Show a0001c0003t0013 a0001c0003t0014 a0001c0012t0004 a0002c0001t0007	a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0012t0004g0036 others(1): Show a0001c0003t0013g0007 a0001c0003t0014g0020 a0001c0012t0004g0036 a0002c0001t0007g0038	4	40	0.1000	21	c.73+ others(38): Show c.73+52286_73+52287insTTTTTTTTTTTTTTTTTTTTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1623304	C C	CATGACCT others(14): Show CATGACCTGGCACCAGTGCACG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	21	c.144 others(40): Show c.1443-3419_1443-3418insCACGATGACCTGGCACCAGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1628786	G G	GCAGGGAT others(14): Show GCAGGGATTAAGAGCCTGAGCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	21	c.159 others(40): Show c.1590+1900_1590+1920dupCAGGGATTAAGAGCCTGAGCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP4_chr20_36301339_36533633	36349104	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0028 a0005c0009t0028	a0005c0009t0028g0005 a0005c0009t0028g0005	1	144	0.0069	21	c.-30 others(42): Show c.-303-17928_-303-17908dupAAAAAAAAAAAAAAAAAAAAA	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36467064	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp2 HG02976.hp2 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0002 a0006c0008t0027 a0001c0001t0002 a0006c0008t0027	a0001c0001t0002g0117 a0006c0008t0027g0070 a0001c0001t0002g0117 a0006c0008t0027g0070	2	144	0.0139	21	c.164 others(42): Show c.1648+20127_1648+20128insTCTCTCTCTCTCTCTCTCTCT	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	7/12			chr20	TogoVar
DLGAP4_chr20_36301339_36533633	36525254	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0130 a0001c0001t0013g0130	1	144	0.0069	21	c.260 others(38): Show c.2605-597_2605-596insAAAAAAAAAAAAAAAAAAAAC	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	11/12			chr20	TogoVar
DLK1_chr14_100721892_100743224	100738369	A A	AGGAGGCC others(14): Show AGGAGGCCGCAGGGCTAAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0027 a0005c0008t0005g0027	1	424	0.0024	21	c.34 others(32): Show c.3473_*3474insGGAGGCCGCAGGGCTAAGGGG	DLK1	ENSG00000185559.16	transcript	ENST00000341267.9	protein_coding		146		chr14	TogoVar
DLL3_chr19_39493947_39513469	39513207	A A	ACATCCAG others(14): Show ACATCCAGGCCACCAGGCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	21	c.49 others(32): Show c.4950_*4951insCATCCAGGCCACCAGGCTTTT	DLL3	ENSG00000090932.11	transcript	ENST00000356433.10	protein_coding		4739		chr19	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03471.hp1 HG04228.hp1 others(2): Show HG02922.hp2 HG03471.hp1 HG04228.hp1 HG04228.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0263 others(2): Show a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0298	5	324	0.0154	21	c.327 others(38): Show c.327-2568_327-2548dupAAAAAAAAAAAAAAAAAAAAA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31284557	T T	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02486.hp1 HG02572.hp1 others(5): Show HG01261.hp1 HG02486.hp1 HG02572.hp1 HG03490.hp1 NA18948.hp1 NA18965.hp1 NA19066.hp1 NA20752.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0007 a0009 a0027 a0036	a0001c0001 a0003c0003 a0005c0007 others(4): Show a0001c0001 a0003c0003 a0005c0007 a0007c0019 a0009c0013 a0027c0058 a0036c0021	a0001c0001t0001 a0001c0001t0016 a0003c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0016 a0003c0003t0001 a0005c0007t0001 a0007c0019t0001 a0009c0013t0001 a0027c0058t0019 a0036c0021t0017	a0001c0001t0001g0026 a0001c0001t0016g0038 a0003c0003t0001g0050 others(5): Show a0001c0001t0001g0026 a0001c0001t0016g0038 a0003c0003t0001g0050 a0005c0007t0001g0120 a0007c0019t0001g0061 a0009c0013t0001g0017 a0027c0058t0019g0116 a0036c0021t0017g0009	8	126	0.0635	21	c.922 others(42): Show c.9225-23562_9225-23542dupGAAGAAGAAGAAGAAGAAGAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31293214	T T	TGTGTGTG others(14): Show TGTGTGTGTGTAGTCTGGTTTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0124 a0017c0027t0001g0124	1	126	0.0079	21	c.922 others(42): Show c.9224+30383_9224+30384insTAAACCAGACTACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31473711	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0045 a0005c0045	a0005c0045t0018 a0005c0045t0018	a0005c0045t0018g0118 a0005c0045t0018g0118	1	126	0.0079	21	c.893 others(40): Show c.8937+4394_8937+4395insTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	59/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31816822	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0009 a0002c0016t0009	a0002c0016t0009g0014 a0002c0016t0009g0014	1	126	0.0079	21	c.730 others(40): Show c.7309+3152_7309+3153insGTGTGTGTGTGTGTGTGTGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	50/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GGGTGTGT others(14): Show GGGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0098 a0002c0012t0002g0098	1	126	0.0079	21	c.720 others(40): Show c.7201-2571_7201-2570insACACACACACACACACACACC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32132993	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0047 a0006c0006t0001g0047	1	126	0.0079	21	c.643 others(42): Show c.6438+83902_6438+83922dupAAAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32280006	C C	CATATATA others(14): Show CATATATATATGTACCCCACAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0041 a0004c0004t0001g0041	1	126	0.0079	21	c.629 others(40): Show c.6290+7502_6290+7522dupATGTGGGGTACATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32292302	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp1 HG02293.hp1 others(1): Show HG02027.hp1 HG02083.hp1 HG02293.hp1 HG04199.hp1	a0002 a0005 a0012 a0002 a0005 a0012	a0002c0005 a0005c0023 a0012c0040 others(1): Show a0002c0005 a0005c0023 a0012c0040 a0012c0048	a0002c0005t0002 a0005c0023t0020 a0012c0040t0001 others(1): Show a0002c0005t0002 a0005c0023t0020 a0012c0040t0001 a0012c0048t0001	a0002c0005t0002g0020 a0005c0023t0020g0110 a0012c0040t0001g0048 others(1): Show a0002c0005t0002g0020 a0005c0023t0020g0110 a0012c0040t0001g0048 a0012c0048t0001g0057	4	126	0.0318	21	c.611 others(40): Show c.6118-4602_6118-4601insAAAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18983.hp1 NA19012.hp1 HG03098.hp1 NA18983.hp1 NA19012.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0020 a0006c0006 a0001c0002 a0002c0020 a0006c0006	a0001c0002t0001 a0002c0020t0028 a0006c0006t0001 a0001c0002t0001 a0002c0020t0028 a0006c0006t0001	a0001c0002t0001g0074 a0002c0020t0028g0010 a0006c0006t0001g0001 a0001c0002t0001g0074 a0002c0020t0028g0010 a0006c0006t0001g0001	3	126	0.0238	21	c.592 others(40): Show c.5923-2687_5923-2667dupTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32418972	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0092 a0002c0005t0007g0092	1	126	0.0079	21	c.407 others(40): Show c.4072-7080_4072-7060dupTTTTTTTTTTTTTTTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	29/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32679902	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0015 a0003c0008t0015	a0003c0008t0015g0123 a0003c0008t0015g0123	1	126	0.0079	21	c.960 others(40): Show c.960+17947_960+17967dupAAAAAAAAAAAAAAAAAAAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	9/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(14): Show TGGGGGGGGGGGGAGGTTGGGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0099 a0007c0018t0001g0099	1	126	0.0079	21	c.649 others(40): Show c.649+32215_649+32216insCCCCAACCTCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(14): Show TGGGGGGGGGGGGGAGGTTGGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	126	0.0079	21	c.649 others(40): Show c.649+32215_649+32216insCCCAACCTCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(14): Show TGGGGGGGGGGGGGGGGGTTGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG02451.hp1 HG03195.hp2	a0002 a0018 a0002 a0018	a0002c0009 a0018c0061 a0002c0009 a0018c0061	a0002c0009t0010 a0018c0061t0001 a0002c0009t0010 a0018c0061t0001	a0002c0009t0010g0023 a0018c0061t0001g0003 a0002c0009t0010g0023 a0018c0061t0001g0003	2	126	0.0159	21	c.649 others(40): Show c.649+32215_649+32216insCCAACCCCCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(14): Show TGGGGGGGGGGGGGGGGTTGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01167.hp1 others(17): Show HG00140.hp1 HG00609.hp1 HG01167.hp1 HG01258.hp1 HG01952.hp1 HG02027.hp1 HG02129.hp1 HG02683.hp1 HG02717.hp1 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03710.hp1 HG04115.hp1 NA18971.hp1 NA18989.hp1 NA19012.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0011 a0015 a0020 a0021	a0001c0001 a0002c0005 a0002c0026 others(13): Show a0001c0001 a0002c0005 a0002c0026 a0002c0052 a0003c0003 a0005c0045 a0005c0053 a0006c0006 a0007c0019 a0008c0010 a0009c0013 a0011c0049 a0011c0060 a0015c0043 a0020c0034 a0021c0035	a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 a0002c0005t0002 a0002c0026t0006 a0002c0052t0025 a0003c0003t0001 a0005c0045t0018 a0005c0053t0004 a0006c0006t0001 a0007c0019t0001 a0008c0010t0009 a0009c0013t0022 a0011c0049t0001 a0011c0060t0003 a0015c0043t0001 a0020c0034t0001 a0021c0035t0001	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0037 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0002g0032 a0002c0005t0001g0040 a0002c0005t0002g0020 a0002c0026t0006g0111 a0002c0052t0025g0095 a0003c0003t0001g0027 a0005c0045t0018g0118 a0005c0053t0004g0103 a0006c0006t0001g0001 a0007c0019t0001g0052 a0008c0010t0009g0004 a0009c0013t0022g0066 a0011c0049t0001g0073 a0011c0060t0003g0072 a0015c0043t0001g0112 a0020c0034t0001g0013 a0021c0035t0001g0106	20	126	0.1587	21	c.649 others(40): Show c.649+32215_649+32216insCCCAACCCCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777277	T T	TGGGGGGG others(14): Show TGGGGGGGGGGGGGGGTTGGGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01934.hp1 HG02293.hp2 others(5): Show HG00621.hp1 HG01934.hp1 HG02293.hp2 HG03654.hp1 NA18612.hp1 NA18988.hp1 NA19000.hp1 NA19004.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0030 a0034	a0001c0001 a0001c0054 a0002c0009 others(5): Show a0001c0001 a0001c0054 a0002c0009 a0004c0004 a0004c0011 a0007c0018 a0030c0037 a0034c0030	a0001c0001t0001 a0001c0054t0001 a0002c0009t0001 others(5): Show a0001c0001t0001 a0001c0054t0001 a0002c0009t0001 a0004c0004t0001 a0004c0011t0002 a0007c0018t0001 a0030c0037t0005 a0034c0030t0003	a0001c0001t0001g0062 a0001c0054t0001g0100 a0002c0009t0001g0065 others(5): Show a0001c0001t0001g0062 a0001c0054t0001g0100 a0002c0009t0001g0065 a0004c0004t0001g0087 a0004c0011t0002g0035 a0007c0018t0001g0068 a0030c0037t0005g0082 a0034c0030t0003g0029	8	126	0.0635	21	c.649 others(40): Show c.649+32215_649+32216insCCCCAACCCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32777278	G G	GGGGGGGG others(14): Show GGGGGGGGGGGGGGGGTTGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0039 a0001c0001t0026g0039	1	126	0.0079	21	c.649 others(40): Show c.649+32214_649+32215insTCCCAACCCCCCCCCCCCCCC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	7/78			chrX	TogoVar

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