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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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
DIS3L2_chr2_231956713_232342192	232086659	A A	ATACACAT others(27): Show ATACACATATATATATGTATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	304	0.0033	34	c.367 others(49): Show c.367-827_367-826insACACATATATATATGTATATATATATATGT GTGT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232086659	A A	ATACACAT others(27): Show ATACACATATATATATGTGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03486.hp1 HG03540.hp2 HG02717.hp1 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134	3	304	0.0099	34	c.367 others(49): Show c.367-827_367-826insACACATATATATATGTGTATATATATATAT GTGT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG06807.hp2 HG02976.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0010 a0004c0007t0010 a0001c0001t0010 a0004c0007t0010	a0001c0001t0010g0035 a0004c0007t0010g0036 a0001c0001t0010g0035 a0004c0007t0010g0036	2	400	0.0050	34	c.558 others(49): Show c.558+251_558+252insAAAAAAAAAAAAAAAAAATATATATATATA TATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0127 a0001c0001t0010g0127	1	400	0.0025	34	c.558 others(49): Show c.558+251_558+252insAAAAAAAAAAAAAATATATATATATATATA TATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02698.hp2 HG03209.hp1 others(1): Show HG02074.hp2 HG02698.hp2 HG03209.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 a0002c0002t0002 a0002c0002t0007 a0002c0002t0012	a0002c0002t0002g0108 a0002c0002t0002g0256 a0002c0002t0007g0196 others(1): Show a0002c0002t0002g0108 a0002c0002t0002g0256 a0002c0002t0007g0196 a0002c0002t0012g0242	4	400	0.0100	34	c.558 others(49): Show c.558+251_558+252insAAAAAAAAAATATATATATATATATATATA TATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01346.hp1 others(10): Show HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01978.hp1 HG01993.hp1 HG02723.hp1 HG02809.hp1 HG03239.hp1 HG03704.hp2 HG03834.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0020 a0002c0002 a0002c0020	a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 others(1): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 a0002c0020t0002	a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0202 others(10): Show a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0202 a0002c0002t0002g0204 a0002c0002t0002g0214 a0002c0002t0002g0246 a0002c0002t0002g0249 a0002c0002t0002g0266 a0002c0002t0007g0268 a0002c0002t0012g0203 a0002c0002t0012g0247 a0002c0002t0012g0248 a0002c0020t0002g0225	13	400	0.0325	34	c.558 others(49): Show c.558+251_558+252insAAAAAAAATATATATATATATATATATATA TATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01952.hp1 HG02027.hp2 others(8): Show HG00544.hp1 HG01952.hp1 HG02027.hp2 HG02523.hp1 HG02698.hp1 HG04228.hp2 NA18961.hp2 NA18989.hp2 NA19003.hp1 NA19068.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0195 a0002c0002t0002g0221 a0002c0002t0002g0253 others(8): Show a0002c0002t0002g0195 a0002c0002t0002g0221 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0007g0197 a0002c0002t0007g0198 a0002c0002t0007g0199 a0002c0002t0007g0215 a0002c0002t0007g0222 a0002c0002t0007g0232 a0002c0002t0007g0233	11	400	0.0275	34	c.558 others(49): Show c.558+251_558+252insAAAAAATATATATATATATATATATATATA TATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19001.hp1 HG02451.hp1 NA19001.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0013 a0002c0002t0007g0013 a0002c0002t0002g0013 a0002c0002t0007g0013	2	400	0.0050	34	c.558 others(49): Show c.558+251_558+252insAAAATATATATATATATATATATATATATA TATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA19068.hp1 HG02135.hp1 NA19068.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0034 a0001c0005t0001g0035 a0001c0005t0001g0034 a0001c0005t0001g0035	2	348	0.0058	34	c.510 others(53): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0172 a0001c0003t0172	a0001c0003t0172g0003 a0001c0003t0172g0003	1	396	0.0025	34	c.36 others(45): Show c.3697_*3698insAAAAAAAAAAAATATATATATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0267	1	336	0.0030	34	c.51 others(45): Show c.5150_*5151insAAAAAAAAAAAAAAATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03098.hp2 HG03017.hp2 HG03098.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0006 a0002c0002t0002 a0003c0003t0006	a0002c0002t0002g0271 a0003c0003t0006g0186 a0002c0002t0002g0271 a0003c0003t0006g0186	2	336	0.0060	34	c.51 others(45): Show c.5150_*5151insAAAAAAAAAAATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02165.hp1 HG04204.hp1 others(1): Show HG00609.hp2 HG02165.hp1 HG04204.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0232 a0002c0002t0002g0239 others(1): Show a0002c0002t0002g0004 a0002c0002t0002g0232 a0002c0002t0002g0239 a0002c0002t0002g0296	4	336	0.0119	34	c.51 others(45): Show c.5150_*5151insAAAAAAAAATATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0049 a0003c0003t0007g0049	1	336	0.0030	34	c.51 others(45): Show c.5150_*5151insAAAAATATATATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02622.hp1 HG02895.hp2	a0001 a0007 a0001 a0007	a0001c0011 a0007c0031 a0001c0011 a0007c0031	a0001c0011t0005 a0007c0031t0005 a0001c0011t0005 a0007c0031t0005	a0001c0011t0005g0195 a0007c0031t0005g0004 a0001c0011t0005g0195 a0007c0031t0005g0004	2	212	0.0094	34	c.134 others(53): Show c.1349-4700_1349-4699insATATATATATATATATTTTTTTTTTT TTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13297282	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02602.hp1 HG02976.hp1 others(1): Show HG01884.hp2 HG02602.hp1 HG02976.hp1 HG04184.hp1	a0001 a0005 a0001 a0005	a0001c0041 a0005c0008 a0005c0012 a0001c0041 a0005c0008 a0005c0012	a0001c0041t0010 a0005c0008t0016 a0005c0012t0003 a0001c0041t0010 a0005c0008t0016 a0005c0012t0003	a0001c0041t0010g0010 a0005c0008t0016g0020 a0005c0012t0003g0019 others(1): Show a0001c0041t0010g0010 a0005c0008t0016g0020 a0005c0012t0003g0019 a0005c0012t0003g0173	4	212	0.0189	34	c.134 others(53): Show c.1348+7986_1348+7987insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13297284	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0017 a0002c0006t0007g0017	1	212	0.0047	34	c.134 others(53): Show c.1348+7984_1348+7985insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197158634	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	332	0.0030	34	c.484 others(51): Show c.484-8839_484-8838insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	5/24			chr3	TogoVar
DLG2_chr11_83450173_85632344	85122982	T T	TATATATA others(27): Show TATATATATATATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	14	0.0714	34	c.283 others(53): Show c.283-11248_283-11247insTATATATATATATATATATATAATAT ATATATAT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	5/27			chr11	TogoVar
DLG4_chr17_7182187_7222627	7184629	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01257.hp2 HG01884.hp1 others(8): Show HG00609.hp1 HG01257.hp2 HG01884.hp1 HG02451.hp1 HG02572.hp2 HG02723.hp1 HG03486.hp1 HG04184.hp1 HG06807.hp1 NA18941.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0044 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0044 a0001c0001t0049 a0001c0001t0087 a0001c0001t0129 a0001c0001t0149 a0001c0002t0008 a0001c0002t0012 a0001c0002t0035 a0001c0002t0056	a0001c0001t0001g0102 a0001c0001t0008g0357 a0001c0001t0044g0014 others(8): Show a0001c0001t0001g0102 a0001c0001t0008g0357 a0001c0001t0044g0014 a0001c0001t0049g0279 a0001c0001t0087g0306 a0001c0001t0129g0355 a0001c0001t0149g0329 a0001c0002t0008g0005 a0001c0002t0012g0142 a0001c0002t0035g0068 a0001c0002t0056g0173	11	376	0.0293	34	c.60 others(45): Show c.6078_*6079insTATATATATATATATATATATATATATATATATA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2557		chr17	TogoVar
DLG4_chr17_7182187_7222627	7184629	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG04204.hp1 NA20905.hp2 HG02735.hp2 HG04204.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0068 a0001c0001t0192 a0001c0001t0039 a0001c0001t0068 a0001c0001t0192	a0001c0001t0039g0065 a0001c0001t0068g0148 a0001c0001t0192g0260 a0001c0001t0039g0065 a0001c0001t0068g0148 a0001c0001t0192g0260	3	376	0.0080	34	c.60 others(45): Show c.6078_*6079insTATATATATATATATATATATATATATATATACA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2557		chr17	TogoVar
DLG4_chr17_7182187_7222627	7184629	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18977.hp2 NA18970.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0121 a0001c0001t0027 a0001c0001t0121	a0001c0001t0027g0034 a0001c0001t0121g0039 a0001c0001t0027g0034 a0001c0001t0121g0039	2	376	0.0053	34	c.60 others(45): Show c.6078_*6079insTATATATATATATATATATATATATATATACACA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2557		chr17	TogoVar
DLGAP1_chr18_3491032_4460307	3551158	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18906.hp2 HG02717.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0002t0016 a0001c0001t0022 a0001c0002t0016	a0001c0001t0022g0043 a0001c0002t0016g0072 a0001c0001t0022g0043 a0001c0002t0016g0072	2	80	0.0250	34	c.205 others(55): Show c.2057+16331_2057+16332insATATATATATATATATATATATAT ATATATATAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	9/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3600716	A A	ATATCTGT others(27): Show ATATCTGTAGCTATATAGATATAGAGATATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	80	0.0125	34	c.159 others(55): Show c.1592-18469_1592-18468insGATATATATCTCTATATCTATATA GCTACAGATA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3600731	T T	TATATATA others(27): Show TATATATAGATATATAGAGATATAGATATATATAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02135.hp1 HG02965.hp1 HG01433.hp2 HG02135.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0047 a0001c0001t0004g0050 a0001c0001t0006g0002 a0001c0001t0002g0047 a0001c0001t0004g0050 a0001c0001t0006g0002	3	80	0.0375	34	c.159 others(55): Show c.1592-18484_1592-18483insCTATATATATCTATATCTCTATAT ATCTATATAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3600829	T T	TATATAGA others(27): Show TATATAGATATATATAGATATATATAGATATATAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp2 HG02976.hp1 others(2): Show HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0020 a0001c0002t0040 a0001c0003t0019 others(2): Show a0001c0001t0020 a0001c0002t0040 a0001c0003t0019 a0001c0003t0035 a0001c0004t0002	a0001c0001t0020g0033 a0001c0002t0040g0055 a0001c0003t0019g0006 others(2): Show a0001c0001t0020g0033 a0001c0002t0040g0055 a0001c0003t0019g0006 a0001c0003t0035g0074 a0001c0004t0002g0025	5	80	0.0625	34	c.159 others(55): Show c.1592-18582_1592-18581insCTATATATCTATATATATCTATAT ATATCTATAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3720888	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	80	0.0125	34	c.159 others(53): Show c.1591+8246_1591+8247insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4328044	T T	TTTTATCT others(27): Show TTTTATCTTTATCTTTTATCTCATTTATCTTTATC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	80	0.0125	34	c.-26 others(57): Show c.-267+126961_-267+126962insGATAAAGATAAATGAGATAAAA GATAAAGATAAA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	1/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	795662	G G	GCAGGCGT others(27): Show GCAGGCGTCCAGTGAGAGCAGGTGTCCAGTGAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0034 a0001c0002t0022g0034	1	40	0.0250	34	c.18+ others(51): Show c.18+57841_18+57842insCGTCCAGTGAGAGCAGGTGTCCAGTGAG AACAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	795939	C C	CGTCCAGT others(27): Show CGTCCAGTGAGAGCAGGCGTCCAGTGAGAGCAGCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02071.hp2 HG02074.hp2 others(2): Show HG01361.hp1 HG02071.hp2 HG02074.hp2 HG02895.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0001 others(1): Show a0001c0002 a0001c0012 a0002c0001 a0002c0007	a0001c0002t0009 a0001c0012t0004 a0002c0001t0001 others(2): Show a0001c0002t0009 a0001c0012t0004 a0002c0001t0001 a0002c0001t0007 a0002c0007t0008	a0001c0002t0009g0039 a0001c0012t0004g0036 a0002c0001t0001g0018 others(2): Show a0001c0002t0009g0039 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0007g0038 a0002c0007t0008g0040	5	40	0.1250	34	c.18+ others(51): Show c.18+58146_18+58147insCTGTCCAGTGAGAGCAGGCGTCCAGTGA GAGCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	795956	C C	CGTCCAGT others(27): Show CGTCCAGTGAGAGCAGCTGTCCAGTGAGAGCAGGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02818.hp1 HG02922.hp1 others(1): Show HG02074.hp1 HG02818.hp1 HG02922.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005	a0001c0002t0027 a0001c0003t0013 a0002c0001t0020 others(1): Show a0001c0002t0027 a0001c0003t0013 a0002c0001t0020 a0003c0005t0002	a0001c0002t0027g0023 a0001c0003t0013g0007 a0002c0001t0020g0024 others(1): Show a0001c0002t0027g0023 a0001c0003t0013g0007 a0002c0001t0020g0024 a0003c0005t0002g0031	4	40	0.1000	34	c.18+ others(51): Show c.18+58146_18+58147insCTGTCCAGTGAGAGCAGGTGTCCAGTGA GAGCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014847	A A	ACGGTGCC others(27): Show ACGGTGCCTCCACTGTGTGTGACCAGGACAGACGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	34	c.73+ others(53): Show c.73+106883_73+106884insGTGCCTCCACTGTGTGTGACCAGGAC AGACGGCG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1275831	A A	AATATATA others(27): Show AATATATAATATATAAATATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp2 HG01891.hp1 others(5): Show HG00639.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02258.hp1 HG02647.hp1 HG02647.hp2 HG03710.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0010 a0002c0001 others(1): Show a0001c0003 a0001c0010 a0002c0001 a0003c0005	a0001c0003t0014 a0001c0003t0017 a0001c0003t0024 others(5): Show a0001c0003t0014 a0001c0003t0017 a0001c0003t0024 a0001c0010t0025 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0003c0005t0004	a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0003t0024g0003 others(5): Show a0001c0003t0014g0020 a0001c0003t0017g0004 a0001c0003t0024g0003 a0001c0010t0025g0012 a0002c0001t0002g0013 a0002c0001t0003g0022 a0002c0001t0005g0028 a0003c0005t0004g0037	8	40	0.2000	34	c.106 others(53): Show c.106+16967_106+17000dupTATATAATATATAAATATATATAATA TATAAATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351337	A A	AATGTGCA others(27): Show AATGTGCATGGAAAGGCCGCGCGGGTCCTGAGTGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02698.hp1 HG01071.hp2 HG02698.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0011 a0002c0001t0003 a0002c0001t0011	a0002c0001t0003g0017 a0002c0001t0011g0001 a0002c0001t0003g0017 a0002c0001t0011g0001	2	40	0.0500	34	c.106 others(53): Show c.106+92454_106+92455insATGTGCATGGAAAGGCCGCGCGGGTC CTGAGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1351339	T T	TGTGCGTG others(27): Show TGTGCGTGGAAAGGCCGTGCGGGTCCTGACTGTGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG03492.hp2 HG02074.hp1 HG02074.hp2 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0009 a0002c0001t0020 a0001c0002t0002 a0001c0002t0009 a0002c0001t0020	a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0020g0024 a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0020g0024	3	40	0.0750	34	c.106 others(53): Show c.106+92459_106+92460insCGTGGAAAGGCCGTGCGGGTCCTGAC TGTGCGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1430011	T T	TACATATA others(27): Show TACATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	34	c.107 others(53): Show c.107-71354_107-71353insCATATATATATATATATATATATATA TATATACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1683856	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0034 a0001c0002t0022g0034	1	40	0.0250	34	c.270 others(53): Show c.2704+5228_2704+5229insATATATATATATATATATATATATAT ATATATGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(22): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp2 NA18747.hp2 NA18950.hp1 NA19007.hp1 NA19062.hp1 NA19062.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0002c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0035 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0144 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0002g0243 a0001c0001t0006g0258 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0004g0004 a0001c0002t0004g0005 a0002c0007t0001g0025	25	266	0.0940	34	c.-51 others(49): Show c.-51-583_-51-582insTATATATATATATATATATATATATATATA TATA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG02486.hp2 others(4): Show HG00741.hp1 HG01074.hp1 HG02486.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0009t0006 a0001c0001t0001 a0001c0001t0002 a0001c0009t0006	a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0167 others(4): Show a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0002g0156 a0001c0009t0006g0251	7	266	0.0263	34	c.-51 others(49): Show c.-51-583_-51-582insTATATATATATATATATATATATATATATA TAAA	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLL4_chr15_40924340_40944073	40942515	C C	CGCTAACT others(27): Show CGCTAACTATCTAGCTGCTTATCCTTAACCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02723.hp1 others(3): Show HG01109.hp1 HG02486.hp1 HG02723.hp1 HG02965.hp2 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0001g0012 a0001c0001t0002g0008 a0001c0001t0002g0012	6	370	0.0162	34	c.44 others(45): Show c.4481_*4482insGCTAACTATCTAGCTGCTTATCCTTAACCTCTCT	DLL4	ENSG00000128917.8	transcript	ENST00000249749.7	protein_coding		3443		chr15	TogoVar
DMD_chrX_31114222_33216549	31293163	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG02922.hp1 HG02965.hp1	a0002 a0005 a0002 a0005	a0002c0052 a0005c0007 a0002c0052 a0005c0007	a0002c0052t0025 a0005c0007t0002 a0002c0052t0025 a0005c0007t0002	a0002c0052t0025g0095 a0005c0007t0002g0093 a0002c0052t0025g0095 a0005c0007t0002g0093	2	126	0.0159	34	c.922 others(55): Show c.9224+30434_9224+30435insACACACACACACACACACACACAC ACACACACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31314742	C C	CAGAGAGA others(27): Show CAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0124 a0017c0027t0001g0124	1	126	0.0079	34	c.922 others(53): Show c.9224+8855_9224+8856insCTCTCTCTCTCTTTCTCTCTCTCTCT CTCTCTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31394938	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp1 NA18994.hp1 others(1): Show HG01928.hp1 HG01952.hp1 NA18994.hp1 NA19000.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0022 others(1): Show a0001c0001 a0001c0002 a0001c0022 a0007c0018	a0001c0001t0001 a0001c0002t0001 a0001c0022t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0022t0001 a0007c0018t0001	a0001c0001t0001g0018 a0001c0002t0001g0088 a0001c0022t0001g0036 others(1): Show a0001c0001t0001g0018 a0001c0002t0001g0088 a0001c0022t0001g0036 a0007c0018t0001g0068	4	126	0.0318	34	c.908 others(55): Show c.9085-46305_9085-46304insTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31394961	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0015 a0015	a0015c0056 a0015c0056	a0015c0056t0021 a0015c0056t0021	a0015c0056t0021g0045 a0015c0056t0021g0045	1	126	0.0079	34	c.908 others(55): Show c.9085-46328_9085-46327insGTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31425695	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0124 a0017c0027t0001g0124	1	126	0.0079	34	c.908 others(55): Show c.9084+18785_9084+18786insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31425708	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01243.hp1 HG02145.hp1 others(10): Show HG00609.hp1 HG01243.hp1 HG02145.hp1 HG02572.hp1 HG03225.hp1 HG03579.hp1 NA18522.hp1 NA18962.hp1 NA18982.hp1 NA18990.hp1 NA19012.hp1 NA19043.hp1 NA19068.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0007 a0010 a0025 a0027 a0029	a0001c0001 a0002c0012 a0002c0016 others(9): Show a0001c0001 a0002c0012 a0002c0016 a0002c0020 a0003c0014 a0006c0006 a0006c0032 a0007c0019 a0010c0031 a0025c0039 a0027c0058 a0029c0044	a0001c0001t0001 a0001c0001t0002 a0002c0012t0002 others(10): Show a0001c0001t0001 a0001c0001t0002 a0002c0012t0002 a0002c0016t0009 a0002c0020t0030 a0003c0014t0010 a0006c0006t0001 a0006c0032t0003 a0007c0019t0001 a0010c0031t0001 a0025c0039t0003 a0027c0058t0019 a0029c0044t0014	a0001c0001t0001g0084 a0001c0001t0002g0024 a0002c0012t0002g0098 others(10): Show a0001c0001t0001g0084 a0001c0001t0002g0024 a0002c0012t0002g0098 a0002c0016t0009g0014 a0002c0020t0030g0125 a0003c0014t0010g0015 a0006c0006t0001g0001 a0006c0032t0003g0077 a0007c0019t0001g0052 a0010c0031t0001g0096 a0025c0039t0003g0075 a0027c0058t0019g0116 a0029c0044t0014g0094	13	126	0.1032	34	c.908 others(55): Show c.9084+18772_9084+18773insCGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	60/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31569652	A A	ATATACGT others(27): Show ATATACGTATATATACGTATATACGTATATATACG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 NA19043.hp1 HG02257.hp2 HG02922.hp1 NA19043.hp1	a0003 a0005 a0010 a0003 a0005 a0010	a0003c0008 a0005c0007 a0010c0031 a0003c0008 a0005c0007 a0010c0031	a0003c0008t0023 a0005c0007t0002 a0010c0031t0001 a0003c0008t0023 a0005c0007t0002 a0010c0031t0001	a0003c0008t0023g0005 a0005c0007t0002g0093 a0010c0031t0001g0096 a0003c0008t0023g0005 a0005c0007t0002g0093 a0010c0031t0001g0096	3	126	0.0238	34	c.821 others(55): Show c.8217+58020_8217+58021insCGTATATATACGTATATACGTATA TATACGTATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31951147	A A	ATATGTGT others(27): Show ATATGTGTATATATATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0093 a0005c0007t0002g0093	1	126	0.0079	34	c.661 others(55): Show c.6614+17191_6614+17192insCATATATATATATACATATATATA TATACACATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	45/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32298514	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0012 a0002c0059t0012	a0002c0059t0012g0055 a0002c0059t0012g0055	1	126	0.0079	34	c.611 others(55): Show c.6118-10814_6118-10813insATATATATATATATATATATATAT ATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	42/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02738.hp1 NA18988.hp1 HG02602.hp1 HG02738.hp1 NA18988.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0011 a0001c0002 a0004c0011	a0001c0002t0001 a0001c0002t0003 a0004c0011t0002 a0001c0002t0001 a0001c0002t0003 a0004c0011t0002	a0001c0002t0001g0025 a0001c0002t0003g0113 a0004c0011t0002g0035 a0001c0002t0001g0025 a0001c0002t0003g0113 a0004c0011t0002g0035	3	126	0.0238	34	c.592 others(53): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar

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Search Results (Total: 7994 hits)