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
DISC1_chr1_231621790_232046272	231804503	G G	GCTGGGTA others(20): Show GCTGGGTAAGTGCAGAGGTACCTTACCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02273.hp1 NA18971.hp2 others(2): Show HG02155.hp1 HG02273.hp1 NA18971.hp2 NA18983.hp1 NA19000.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0005 a0002c0004 a0006c0010 a0001c0005 a0002c0004 a0006c0010	a0001c0005t0011 a0002c0004t0003 a0002c0004t0004 others(1): Show a0001c0005t0011 a0002c0004t0003 a0002c0004t0004 a0006c0010t0003	a0001c0005t0011g0023 a0002c0004t0003g0026 a0002c0004t0003g0028 others(2): Show a0001c0005t0011g0023 a0002c0004t0003g0026 a0002c0004t0003g0028 a0002c0004t0004g0004 a0006c0010t0003g0027	5	40	0.1250	27	c.179 others(46): Show c.1792+4297_1792+4298insGTAAGTGCAGAGGTACCTTACCTCTG G	DISC1	ENSG00000162946.24	transcript	ENST00000439617.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222936835	A A	ATATATAT others(20): Show ATATATATCATATATATGATATATAATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00544.hp1 others(62): Show HG00099.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02300.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02809.hp2 HG02965.hp2 HG03098.hp1 HG03195.hp1 HG06807.hp1 NA18747.hp2 NA18944.hp1 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19001.hp2 NA19010.hp2 NA19054.hp2 NA19058.hp1 NA19065.hp1 NA19074.hp2 NA19079.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0009 a0014 a0027	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0034 a0003c0015 a0004c0010 a0005c0013 a0009c0021 a0014c0035 a0027c0028	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0034t0001 a0003c0015t0001 a0004c0010t0001 a0005c0013t0001 a0009c0021t0001 a0014c0035t0001 a0027c0028t0001	a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0050 others(62): Show a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0232 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0135 a0001c0002t0001g0210 a0001c0002t0001g0252 a0001c0002t0001g0284 a0001c0002t0001g0347 a0001c0006t0001g0126 a0001c0006t0001g0145 a0001c0006t0001g0241 a0001c0034t0001g0163 a0003c0015t0001g0153 a0004c0010t0001g0158 a0004c0010t0001g0159 a0004c0010t0001g0237 a0004c0010t0001g0248 a0005c0013t0001g0008 a0009c0021t0001g0236 a0014c0035t0001g0231 a0027c0028t0001g0152	65	348	0.1868	27	c.-17 others(44): Show c.-17-5947_-17-5921dupATTTATATATCATATATATGATATATA	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP1_chr1_222810039_223010995	222969370	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02976.hp2 HG03654.hp1 others(6): Show HG02080.hp2 HG02976.hp2 HG03654.hp1 NA18945.hp1 NA18955.hp1 NA18962.hp2 NA19005.hp2 NA19086.hp2 NA19090.hp2	a0001 a0002 a0025 a0001 a0002 a0025	a0001c0002 a0002c0003 a0025c0032 a0001c0002 a0002c0003 a0025c0032	a0001c0002t0001 a0002c0003t0001 a0025c0032t0001 a0001c0002t0001 a0002c0003t0001 a0025c0032t0001	a0001c0002t0001g0202 a0001c0002t0001g0272 a0002c0003t0001g0093 others(6): Show a0001c0002t0001g0202 a0001c0002t0001g0272 a0002c0003t0001g0093 a0002c0003t0001g0235 a0002c0003t0001g0299 a0002c0003t0001g0310 a0002c0003t0001g0338 a0002c0003t0001g0339 a0025c0032t0001g0011	9	348	0.0259	27	c.510 others(46): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA A	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP2_chr15_40353219_40383621	40358244	T T	TGCCGCCG others(20): Show TGCCGCCGCCACCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0087 a0001c0003t0087	a0001c0003t0087g0003 a0001c0003t0087g0003	1	396	0.0025	27	c.-69 others(34): Show c.-69_-43dupCACCGCCGCCGCCGCCGCCGCCGCCGC	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	1/8	42	INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0171 a0001c0003t0171	a0001c0003t0171g0003 a0001c0003t0171g0003	1	396	0.0025	27	c.36 others(38): Show c.3697_*3698insAAAAAAAAAAAAATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DIXDC1_chr11_111932343_112027653	111950438	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0207 a0001c0001t0008g0207	1	278	0.0036	27	c.60+ others(44): Show c.60+12880_60+12881insATATATATATATATATATATATTTTTT	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DKK2_chr4_106916802_107041313	107027756	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0087 a0001c0001t0011g0087	1	218	0.0046	27	c.222 others(44): Show c.222+7613_222+7614insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DKK2	ENSG00000155011.9	transcript	ENST00000285311.8	protein_coding	1/3			chr4	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0266 a0002c0002t0002g0266	1	336	0.0030	27	c.51 others(38): Show c.5150_*5151insAAAAAAAAAAAAAAAAAATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0237 a0002c0002t0002g0237	1	336	0.0030	27	c.51 others(38): Show c.5150_*5151insAAAAAAAAAAAAAATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 NA18961.hp2 NA18997.hp1 others(1): Show HG03540.hp2 NA18961.hp2 NA18997.hp1 NA19066.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0014 a0005c0005 a0002c0002 a0002c0014 a0005c0005	a0002c0002t0002 a0002c0014t0002 a0005c0005t0005 a0002c0002t0002 a0002c0014t0002 a0005c0005t0005	a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0014t0002g0219 others(1): Show a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0014t0002g0219 a0005c0005t0005g0052	4	336	0.0119	27	c.51 others(38): Show c.5150_*5151insAAAAAAAAAATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0213 a0005c0005t0005g0213	1	336	0.0030	27	c.51 others(38): Show c.5150_*5151insAAAAAATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	336	0.0030	27	c.51 others(38): Show c.5150_*5151insAAAATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02300.hp1 HG01192.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0261 a0002c0002t0002g0326 a0002c0002t0002g0261 a0002c0002t0002g0326	2	336	0.0060	27	c.51 others(38): Show c.5150_*5151insAATATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13120356	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0142 a0003c0003t0014g0142	1	212	0.0047	27	c.134 others(46): Show c.1349-4700_1349-4699insATATATATATATATATATATTTTTTT T	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13188843	A A	ATATATAT others(20): Show ATATATATATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03942.hp1 HG02738.hp1 HG03942.hp1	a0002 a0004 a0002 a0004	a0002c0006 a0004c0005 a0002c0006 a0004c0005	a0002c0006t0001 a0004c0005t0002 a0002c0006t0001 a0004c0005t0002	a0002c0006t0001g0039 a0004c0005t0002g0179 a0002c0006t0001g0039 a0004c0005t0002g0179	2	212	0.0094	27	c.134 others(48): Show c.1349-73187_1349-73186insATATATATATATATATACATATAT ATA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13297282	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01081.hp2 others(18): Show HG00099.hp1 HG00738.hp1 HG01081.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01516.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG02622.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG04199.hp1 HG04228.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0014 a0017 a0022	a0001c0001 a0001c0015 a0002c0002 others(10): Show a0001c0001 a0001c0015 a0002c0002 a0003c0003 a0005c0008 a0006c0007 a0006c0017 a0007c0016 a0007c0031 a0009c0013 a0014c0047 a0017c0036 a0022c0028	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(12): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0015t0001 a0002c0002t0002 a0003c0003t0004 a0005c0008t0009 a0006c0007t0046 a0006c0017t0011 a0007c0016t0021 a0007c0031t0005 a0009c0013t0043 a0014c0047t0006 a0017c0036t0001 a0022c0028t0022	a0001c0001t0001g0006 a0001c0001t0001g0047 a0001c0001t0001g0071 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0001g0127 a0001c0001t0012g0207 a0001c0001t0016g0056 a0001c0015t0001g0104 a0001c0015t0001g0122 a0002c0002t0002g0064 a0002c0002t0002g0070 a0003c0003t0004g0137 a0005c0008t0009g0167 a0006c0007t0046g0032 a0006c0017t0011g0033 a0007c0016t0021g0003 a0007c0031t0005g0004 a0009c0013t0043g0037 a0014c0047t0006g0161 a0017c0036t0001g0044 a0022c0028t0022g0002	21	212	0.0991	27	c.134 others(46): Show c.1348+7986_1348+7987insTTTTTTTTTTTTTTTTTTTTTTTTTT T	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13297287	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0049 a0001c0011t0003g0049	1	212	0.0047	27	c.134 others(46): Show c.1348+7981_1348+7982insGTTTTGTTTTGTTTTTTTTTTTTTTT T	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197046291	C C	CAGGAACT others(20): Show CAGGAACTGACTTGGGAAATATACATTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01081.hp1 HG01106.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0304 a0005c0008t0003g0305 a0005c0008t0003g0304 a0005c0008t0003g0305	2	332	0.0060	27	c.257 others(46): Show c.2576-1589_2576-1563dupAAATGTATATTTCCCAAGTCAGTTCC T	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	24/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197047738	C C	CGAAACTA others(20): Show CGAAACTAAACCCTTATCTTATACAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0272 a0001c0001t0005g0272	1	332	0.0030	27	c.257 others(46): Show c.2576-3036_2576-3010dupTTTTGTATAAGATAAGGGTTTAGTTT C	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	24/24			chr3	TogoVar
DLG1_chr3_197037560_197303612	197127453	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	332	0.0030	27	c.116 others(46): Show c.1165+3073_1165+3074insATATATATATATATATATATATATAT A	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	11/24			chr3	TogoVar
DLG2_chr11_83450173_85632344	83577484	T T	TTATATAT others(20): Show TTATATATATATATAATAGGATATATTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02717.hp1 NA18906.hp2 HG01884.hp1 HG02717.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0001 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0006 a0001c0001t0003g0003 a0001c0001t0011g0013 a0001c0001t0001g0006 a0001c0001t0003g0003 a0001c0001t0011g0013	3	14	0.2143	27	c.194 others(48): Show c.1941-35653_1941-35627dupTAATATATCCTATTATATATATAT ATA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	19/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	84650879	A A	ATACATAC others(20): Show ATACATACATATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	14	0.0714	27	c.358 others(48): Show c.358-116149_358-116148insGTATATATGTATATATATATGTAT GTA	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	6/27			chr11	TogoVar
DLG2_chr11_83450173_85632344	85122970	T T	TATATTAT others(20): Show TATATTATATATATATATATATATAATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	14	0.0714	27	c.283 others(46): Show c.283-11236_283-11235insTATTATATATATATATATATATAATA T	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	5/27			chr11	TogoVar
DLG4_chr17_7182187_7222627	7184646	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0315 a0001c0001t0083g0315	1	376	0.0027	27	c.60 others(38): Show c.6061_*6062insTATATATATATATATATATATATATAT	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding		2540		chr17	TogoVar
DLG4_chr17_7182187_7222627	7190963	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0315 a0001c0001t0083g0315	1	376	0.0027	27	c.206 others(44): Show c.2069-150_2069-149insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DLG4	ENSG00000132535.22	transcript	ENST00000399506.9	protein_coding	19/19			chr17	TogoVar
DLGAP2_chr8_732628_1713476	759140	T T	TTTCCCAT others(20): Show TTTCCCATTATCAATACCCCCCACAACC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02818.hp2 others(6): Show HG01891.hp1 HG02647.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0011 others(2): Show a0001c0002 a0001c0003 a0001c0011 a0002c0001 a0002c0006	a0001c0002t0002 a0001c0002t0022 a0001c0003t0017 others(6): Show a0001c0002t0002 a0001c0002t0022 a0001c0003t0017 a0001c0003t0024 a0001c0011t0015 a0002c0001t0002 a0002c0001t0005 a0002c0001t0019 a0002c0006t0021	a0001c0002t0002g0021 a0001c0002t0022g0034 a0001c0003t0017g0004 others(6): Show a0001c0002t0002g0021 a0001c0002t0022g0034 a0001c0003t0017g0004 a0001c0003t0024g0003 a0001c0011t0015g0002 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0001t0019g0030 a0002c0006t0021g0014	9	40	0.2250	27	c.18+ others(44): Show c.18+21339_18+21340insACCTTCCCATTATCAATACCCCCCACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	848350	A A	ACGTGCGG others(20): Show ACGTGCGGTGCGTGTTCCAGTGTAGGGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01496.hp1 HG00639.hp2 HG01361.hp2 HG01496.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0004 a0001c0002 a0001c0010 a0002c0004	a0001c0002t0023 a0001c0010t0025 a0002c0004t0003 a0001c0002t0023 a0001c0010t0025 a0002c0004t0003	a0001c0002t0023g0005 a0001c0010t0025g0012 a0002c0004t0003g0009 a0001c0002t0023g0005 a0001c0010t0025g0012 a0002c0004t0003g0009	3	40	0.0750	27	c.19- others(44): Show c.19-59552_19-59551insGTGTTCCAGTGTAGGGTCGTGCGGTGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	848415	C C	CTGTTCCA others(20): Show CTGTTCCAGTGTAGGGTCGTGCGGTGCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 HG02976.hp1 others(1): Show HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0011 a0002c0001 a0001c0003 a0001c0011 a0002c0001	a0001c0003t0001 a0001c0011t0015 a0002c0001t0002 others(1): Show a0001c0003t0001 a0001c0011t0015 a0002c0001t0002 a0002c0001t0019	a0001c0003t0001g0027 a0001c0011t0015g0002 a0002c0001t0002g0032 others(1): Show a0001c0003t0001g0027 a0001c0011t0015g0002 a0002c0001t0002g0032 a0002c0001t0019g0030	4	40	0.1000	27	c.19- others(44): Show c.19-59131_19-59105dupGTCGTGCGGTGCGTGTTCCAGTGTAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	848874	T T	TCTGTTCC others(20): Show TCTGTTCCAGAATAGGAACGCGCGGTGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA20300.hp1 HG02074.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0013 a0002c0001t0020 a0001c0003t0013 a0002c0001t0020	a0001c0003t0013g0007 a0002c0001t0020g0024 a0001c0003t0013g0007 a0002c0001t0020g0024	2	40	0.0500	27	c.19- others(44): Show c.19-59029_19-59028insAATAGGAACGCGCGGTGCCTGTTCCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	881666	A A	ATGTATAT others(20): Show ATGTATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01496.hp1 others(3): Show HG00639.hp2 HG01361.hp2 HG01496.hp1 HG02698.hp2 HG03516.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0010 others(1): Show a0001c0002 a0001c0003 a0001c0010 a0002c0004	a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 others(3): Show a0001c0002t0022 a0001c0002t0023 a0001c0003t0001 a0001c0010t0025 a0002c0004t0003 a0002c0004t0018	a0001c0002t0022g0034 a0001c0002t0023g0005 a0001c0003t0001g0026 others(3): Show a0001c0002t0022g0034 a0001c0002t0023g0005 a0001c0003t0001g0026 a0001c0010t0025g0012 a0002c0004t0003g0009 a0002c0004t0018g0010	6	40	0.1500	27	c.19- others(44): Show c.19-26246_19-26245insTGTATATATATATATATATATACACAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1015260	C C	CGCCTCCA others(20): Show CGCCTCCACTGTGTGTGTGACCAGGACA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	27	c.73+ others(46): Show c.73+107295_73+107296insCCTCCACTGTGTGTGTGACCAGGACA G	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1016092	C C	CGCCTCCA others(20): Show CGCCTCCACTGTGTGTGTGACCAGGACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	27	c.73+ others(46): Show c.73+108127_73+108128insCCTCCACTGTGTGTGTGACCAGGACA G	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1344087	C C	CTCGGGGC others(20): Show CTCGGGGCCCTGTCGTGGGTCCATGTAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp1 HG01496.hp2 HG00639.hp2 HG01361.hp1 HG01496.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0010 a0002c0001 a0003c0005 a0001c0010 a0002c0001 a0003c0005	a0001c0010t0025 a0002c0001t0001 a0003c0005t0004 a0001c0010t0025 a0002c0001t0001 a0003c0005t0004	a0001c0010t0025g0012 a0002c0001t0001g0018 a0003c0005t0004g0037 a0001c0010t0025g0012 a0002c0001t0001g0018 a0003c0005t0004g0037	3	40	0.0750	27	c.106 others(46): Show c.106+85226_106+85252dupATGTATTCGGGGCCCTGTCGTGGGTC C	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1344114	T T	TTCGGGGC others(20): Show TTCGGGGCCCTGTCGTGGGTCCGTGTAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02895.hp1 HG02895.hp2 others(2): Show HG02258.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0007 a0003c0005 a0001c0003 a0002c0007 a0003c0005	a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 others(2): Show a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0002c0007t0008 a0003c0005t0002	a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0013g0007 others(2): Show a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0013g0007 a0002c0007t0008g0040 a0003c0005t0002g0031	5	40	0.1250	27	c.106 others(46): Show c.106+85252_106+85278dupCGTGTACTCGGGGCCCTGTCGTGGGT C	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1477059	C C	CACCGCAG others(20): Show CACCGCAGACACAATTAATCACGTCACT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02074.hp1 HG03492.hp1 HG02071.hp2 HG02074.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0001 a0001c0012 a0002c0001	a0001c0012t0004 a0002c0001t0007 a0002c0001t0020 a0001c0012t0004 a0002c0001t0007 a0002c0001t0020	a0001c0012t0004g0036 a0002c0001t0007g0038 a0002c0001t0020g0024 a0001c0012t0004g0036 a0002c0001t0007g0038 a0002c0001t0020g0024	3	40	0.0750	27	c.107 others(46): Show c.107-24306_107-24280dupACCGCAGACACAATTAATCACGTCAC T	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1563319	C C	CGTTACTG others(20): Show CGTTACTGGGGGGCTGTGTGGTTTTGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG02895.hp1 others(2): Show HG02258.hp2 HG02647.hp1 HG02895.hp1 HG03492.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0006 a0001c0003t0017	a0001c0002t0002g0021 a0001c0003t0001g0026 a0001c0003t0001g0027 others(2): Show a0001c0002t0002g0021 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0017g0004	5	40	0.1250	27	c.123 others(46): Show c.1231-2361_1231-2335dupTACTGGGGGGCTGTGTGGTTTTGGGG T	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP3_chr1_34860436_34934650	34906016	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA19068.hp2 HG01515.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0050 a0001c0001t0001g0064	2	266	0.0075	27	c.-51 others(42): Show c.-51-583_-51-582insTATATATATATATATATATATATATAT	DLGAP3	ENSG00000116544.12	transcript	ENST00000373347.6	protein_coding	2/11			chr1	TogoVar
DLGAP4_chr20_36301339_36533633	36320115	T T	TAGGCCCC others(20): Show TAGGCCCCCCTCTGTGTCTTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02922.hp1 others(2): Show HG01167.hp1 HG01169.hp2 HG02922.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0004 a0001c0001t0002 a0001c0001t0006 a0001c0002t0004	a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 others(2): Show a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0006g0116 a0001c0002t0004g0120	5	144	0.0347	27	c.-30 others(48): Show c.-304+13623_-304+13649dupCCTCTCCCAGGCCCCCCTCTGTGT CTT	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(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0077 a0001c0001t0008g0077	1	144	0.0069	27	c.164 others(48): Show c.1648+20127_1648+20128insTCTCTCTCTCTCTCTCTCTCTCTC TCT	DLGAP4	ENSG00000080845.19	transcript	ENST00000339266.10	protein_coding	7/12			chr20	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02129.hp1 NA18943.hp1 others(5): Show HG01433.hp2 HG02129.hp1 NA18943.hp1 NA18975.hp1 NA18983.hp1 NA19056.hp2 NA19067.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0066 a0001c0001t0001g0245 a0001c0001t0001g0246 others(5): Show a0001c0001t0001g0066 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0006t0001g0222	8	324	0.0247	27	c.327 others(44): Show c.327-2548_327-2547insAAAAAAAAAAAAAAAAAAAAAAAAAAA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31284557	T T	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTATTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0044 a0008c0010t0001g0044	1	126	0.0079	27	c.922 others(48): Show c.9225-23542_9225-23541insGAATAAGAAGAAGAAGAAGAAGAA GAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31284557	T T	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 NA18940.hp1 others(1): Show HG01106.hp1 HG01192.hp1 NA18940.hp1 NA18955.hp1	a0004 a0005 a0013 a0004 a0005 a0013	a0004c0011 a0004c0055 a0005c0007 others(1): Show a0004c0011 a0004c0055 a0005c0007 a0013c0015	a0004c0011t0001 a0004c0055t0001 a0005c0007t0007 others(1): Show a0004c0011t0001 a0004c0055t0001 a0005c0007t0007 a0013c0015t0001	a0004c0011t0001g0085 a0004c0055t0001g0007 a0005c0007t0007g0063 others(1): Show a0004c0011t0001g0085 a0004c0055t0001g0007 a0005c0007t0007g0063 a0013c0015t0001g0102	4	126	0.0318	27	c.922 others(48): Show c.9225-23568_9225-23542dupGAAGAAGAAGAAGAAGAAGAAGAA GAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31314742	C C	CAGAGAGA others(20): Show CAGAGAGAGAGAGAGAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0010 a0010	a0010c0051 a0010c0051	a0010c0051t0011 a0010c0051t0011	a0010c0051t0011g0121 a0010c0051t0011g0121	1	126	0.0079	27	c.922 others(46): Show c.9224+8855_9224+8856insCTCTCTTCTCTCTCTCTCTCTCTCTC T	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	62/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31559640	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	126	0.0079	27	c.821 others(48): Show c.8218-52188_8218-52187insTTTTTTTTTTTTTTTTTTTTTTTT TTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	31822653	G G	GGGTGTGT others(20): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0036 a0036	a0036c0021 a0036c0021	a0036c0021t0017 a0036c0021t0017	a0036c0021t0017g0009 a0036c0021t0017g0009	1	126	0.0079	27	c.720 others(46): Show c.7201-2571_7201-2570insACACACACACACACACACACACACAC C	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	49/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32132993	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	126	0.0079	27	c.643 others(48): Show c.6438+83896_6438+83922dupAAAAAAAAAAAAAAAAAAAAAAAA AAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	44/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32239654	C C	CTAAAACT others(20): Show CTAAAACTGCTATGCATACCATGTATGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04199.hp1 HG02738.hp1 HG04199.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0048 a0001c0002 a0012c0048	a0001c0002t0001 a0012c0048t0001 a0001c0002t0001 a0012c0048t0001	a0001c0002t0001g0025 a0012c0048t0001g0057 a0001c0002t0001g0025 a0012c0048t0001g0057	2	126	0.0159	27	c.629 others(48): Show c.6291-22618_6291-22592dupACATACATGGTATGCATAGCAGTT TTA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	43/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02132.hp1 HG02257.hp1 others(4): Show HG00140.hp1 HG02132.hp1 HG02257.hp1 HG02683.hp1 HG02683.hp2 NA18982.hp1 NA18989.hp1	a0001 a0011 a0019 others(1): Show a0001 a0011 a0019 a0025	a0001c0001 a0011c0060 a0019c0033 others(1): Show a0001c0001 a0011c0060 a0019c0033 a0025c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0011c0060t0003 a0019c0033t0001 a0025c0039t0003	a0001c0001t0001g0008 a0001c0001t0001g0080 a0001c0001t0002g0032 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0080 a0001c0001t0002g0032 a0001c0001t0004g0101 a0011c0060t0003g0072 a0019c0033t0001g0089 a0025c0039t0003g0075	7	126	0.0556	27	c.592 others(46): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT T	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32480581	T T	TATACACA others(20): Show TATACACAGTATGTGTCTGTGTGTGTAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG02922.hp1 others(1): Show HG02451.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1	a0002 a0005 a0018 a0002 a0005 a0018	a0002c0009 a0002c0059 a0005c0007 others(1): Show a0002c0009 a0002c0059 a0005c0007 a0018c0061	a0002c0009t0002 a0002c0059t0012 a0005c0007t0002 others(1): Show a0002c0009t0002 a0002c0059t0012 a0005c0007t0002 a0018c0061t0001	a0002c0009t0002g0002 a0002c0059t0012g0055 a0005c0007t0002g0093 others(1): Show a0002c0009t0002g0002 a0002c0059t0012g0055 a0005c0007t0002g0093 a0018c0061t0001g0003	4	126	0.0318	27	c.280 others(46): Show c.2803+4337_2803+4338insGTACACACACAGACACATACTGTGTA T	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32585699	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0049 a0002c0005t0001g0049	1	126	0.0079	27	c.160 others(48): Show c.1602+10031_1602+10057dupTTTTTTTTTTTTTTTTTTTTTTTT TTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	13/78			chrX	TogoVar

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Search Results (Total: 7463 hits)