Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DHRS4L2_chr14_23983929_24011403	24001957	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	4	0.2500	31	c.665 others(46): Show c.665+456_665+457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DHRSX_chrX_2214506_2505976	2243788	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	20	0.0500	31	c.597 others(46): Show c.597-589_597-559dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	5/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314445	G G	GGGGAGAA others(24): Show GGGGAGAAGGAAGGAAGGAAGGGAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0048 a0003c0003t0001g0048	1	48	0.0208	31	c.287 others(50): Show c.287-22843_287-22842insTTCCTTCCTCCCTTCCTTCCTTCCTT CTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2318573	C C	CACTTCCA others(24): Show CACTTCCATCAGCCTCATGGCAGTTTACAGAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	48	0.0208	31	c.287 others(50): Show c.287-27001_287-26971dupATCTGTAAACTGCCATGAGGCTGATG GAAGT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHX9_chr1_182834347_182892982	182868520	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0131 a0001c0002t0003g0131	1	158	0.0063	31	c.155 others(50): Show c.1557+1490_1557+1491insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIAPH3_chr13_59660583_60168928	59993702	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0056 a0002c0004t0001g0056	1	49	0.0204	31	c.101 others(50): Show c.1015-1120_1015-1119insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	9/27			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62929369	G G	GCCTCGGC others(24): Show GCCTCGGCGCTGGGCTCCTCCTCTGCCCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0003 a0006c0020t0003	a0006c0020t0003g0164 a0006c0020t0003g0164	1	318	0.0031	31	c.-31 others(42): Show c.-3161_-3131dupGAGCGGGCAGAGGAGGAGCCCAGCGCCGAGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2865		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593865	C C	CTCCTCCC others(24): Show CTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0049 a0001c0003t0002g0049	1	191	0.0052	31	c.101 others(50): Show c.101-32111_101-32110insTCCTCCCCTCCCCTCTCCTCCCCTCC CCTCT	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37			chr12	TogoVar
DIP2C_chr10_269201_694668	557832	A A	AGGCAGGC others(24): Show AGGCAGGCAGGCAGGAAGTGGGAGGGGGCAGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	31	c.86- others(48): Show c.86-71303_86-71302insCCTGCCCCCTCCCACTTCCTGCCTGCCT GCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK1B_chr9_136707572_136729742	136719929	T T	TCTGGGGC others(24): Show TCTGGGGCTCCAGGTGCAGGGGGCTGTGTGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG03225.hp1 others(1): Show HG01109.hp2 HG02145.hp2 HG03225.hp1 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0044 a0002c0003t0001g0144 a0002c0003t0001g0145	4	416	0.0096	31	c.199 others(48): Show c.199-1982_199-1981insAGGTGCAGGGGGCTGTGTGGGCTGGGGC TCC	DIPK1B	ENSG00000165716.11	transcript	ENST00000371692.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DIPK1C_chr18_74429775_74462308	74430008	T T	TTTTTGTA others(24): Show TTTTTGTATCTTTGGTTGAGACACAACCAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG01358.hp2 others(52): Show HG01081.hp1 HG01243.hp1 HG01358.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0010 a0013 a0015	a0001c0001 a0001c0017 a0002c0002 others(5): Show a0001c0001 a0001c0017 a0002c0002 a0004c0004 a0008c0009 a0010c0020 a0013c0027 a0015c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0029 a0001c0001t0034 a0001c0017t0009 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0012 a0002c0002t0023 a0004c0004t0004 a0008c0009t0003 a0010c0020t0015 a0013c0027t0017 a0015c0022t0017	a0001c0001t0001g0232 a0001c0001t0003g0004 a0001c0001t0003g0023 others(41): Show a0001c0001t0001g0232 a0001c0001t0003g0004 a0001c0001t0003g0023 a0001c0001t0003g0053 a0001c0001t0003g0079 a0001c0001t0003g0318 a0001c0001t0004g0005 a0001c0001t0004g0019 a0001c0001t0004g0083 a0001c0001t0004g0088 a0001c0001t0004g0100 a0001c0001t0004g0114 a0001c0001t0004g0277 a0001c0001t0006g0037 a0001c0001t0006g0099 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0193 a0001c0001t0006g0196 a0001c0001t0010g0022 a0001c0001t0013g0062 a0001c0001t0029g0374 a0001c0001t0034g0378 a0001c0017t0009g0377 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0259 a0002c0002t0002g0341 a0002c0002t0005g0040 a0002c0002t0005g0043 a0002c0002t0005g0080 a0002c0002t0005g0218 a0002c0002t0005g0244 a0002c0002t0007g0082 a0002c0002t0007g0084 a0002c0002t0007g0231 a0002c0002t0012g0018 a0002c0002t0023g0181 a0004c0004t0004g0078 a0004c0004t0004g0126 a0008c0009t0003g0086 a0010c0020t0015g0169 a0013c0027t0017g0127 a0015c0022t0017g0113	55	482	0.1141	31	c.64 others(42): Show c.6492_*6493insTCTTGGTTGTGTCTCAACCAAAGATACAAAA	DIPK1C	ENSG00000187773.9	transcript	ENST00000343998.8	protein_coding		4766		chr18	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18965.hp2 NA18960.hp2 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0002 a0001c0004t0001 a0002c0002t0002	a0001c0004t0001g0116 a0002c0002t0002g0237 a0001c0004t0001g0116 a0002c0002t0002g0237	2	12	0.1667	31	c.558 others(46): Show c.558+251_558+252insAAAAAAAAAAAAAAAAATATATATATATAT A	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(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02165.hp1 NA18747.hp1 others(4): Show HG01123.hp2 HG02165.hp1 NA18747.hp1 NA18971.hp1 NA19007.hp1 NA19082.hp1 NA19090.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0009 a0001c0004t0001 a0001c0004t0009	a0001c0004t0001g0002 a0001c0004t0001g0115 a0001c0004t0001g0118 others(1): Show a0001c0004t0001g0002 a0001c0004t0001g0115 a0001c0004t0001g0118 a0001c0004t0009g0022	7	17	0.4118	31	c.558 others(46): Show c.558+251_558+252insAAAAAAAAAAAAAAATATATATATATATAT A	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(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02257.hp1 HG03491.hp2 others(4): Show HG01934.hp2 HG02257.hp1 HG03491.hp2 HG03492.hp2 HG04184.hp1 NA18986.hp1 NA19062.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0009c0016 a0001c0004 a0009c0016	a0001c0004t0001 a0001c0004t0009 a0009c0016t0001 a0001c0004t0001 a0001c0004t0009 a0009c0016t0001	a0001c0004t0001g0003 a0001c0004t0001g0114 a0001c0004t0001g0119 others(2): Show a0001c0004t0001g0003 a0001c0004t0001g0114 a0001c0004t0001g0119 a0001c0004t0009g0003 a0009c0016t0001g0113	7	17	0.4118	31	c.558 others(46): Show c.558+251_558+252insAAAAAAAAAAAAATATATATATATATATAT A	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(24): Show AAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0125 a0001c0004t0001g0125	1	11	0.0909	31	c.558 others(46): Show c.558+251_558+252insAAAAAAAAAAATATATATATATATATATAT A	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(24): Show AAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	11	0.0909	31	c.558 others(46): Show c.558+251_558+252insAAAAAAATATATATATATATATATATATAT A	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(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG01952.hp1 others(1): Show HG00642.hp1 HG01192.hp2 HG01952.hp1 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0013 a0002c0003t0001g0056 a0002c0003t0001g0218 others(1): Show a0001c0002t0001g0013 a0002c0003t0001g0056 a0002c0003t0001g0218 a0002c0003t0001g0219	4	15	0.2667	31	c.510 others(50): Show c.510-13693_510-13692insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	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(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0151 a0001c0003t0151	a0001c0003t0151g0003 a0001c0003t0151g0003	1	146	0.0068	31	c.36 others(42): Show c.3697_*3698insAAAAAAAAAAAAAAATATATATATATATATA	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(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0215 a0001c0001t0006g0215	1	165	0.0061	31	c.60+ others(48): Show c.60+12880_60+12881insATATATATATATATATATATATATATAT ATT	DIXDC1	ENSG00000150764.14	transcript	ENST00000440460.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02630.hp1 HG03195.hp2 HG00140.hp2 HG02630.hp1 HG03195.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0002 a0003c0003t0006 a0004c0004t0010 a0002c0002t0002 a0003c0003t0006 a0004c0004t0010	a0002c0002t0002g0300 a0003c0003t0006g0002 a0004c0004t0010g0193 a0002c0002t0002g0300 a0003c0003t0006g0002 a0004c0004t0010g0193	3	83	0.0361	31	c.51 others(42): Show c.5150_*5151insAAAAAAAAAAAAAATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02135.hp1 NA19081.hp2 HG01981.hp1 HG02135.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0057 a0002c0002t0002g0281 a0002c0002t0002g0286 a0002c0002t0002g0057 a0002c0002t0002g0281 a0002c0002t0002g0286	3	83	0.0361	31	c.51 others(42): Show c.5150_*5151insAAAAAAAAAAAATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03831.hp2 NA18612.hp1 others(1): Show HG03041.hp1 HG03831.hp2 NA18612.hp1 NA18950.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0006 a0002c0002t0002 a0003c0003t0006	a0002c0002t0002g0006 a0002c0002t0002g0258 a0002c0002t0002g0312 others(1): Show a0002c0002t0002g0006 a0002c0002t0002g0258 a0002c0002t0002g0312 a0003c0003t0006g0050	4	84	0.0476	31	c.51 others(42): Show c.5150_*5151insAAAAAAAAAATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLAT_chr11_112020408_112069404	112067685	A A	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19089.hp2 NA19005.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0264 a0002c0002t0002g0296 a0002c0002t0002g0264 a0002c0002t0002g0296	2	82	0.0244	31	c.51 others(42): Show c.5150_*5151insAAAAAAAATATATATATATATATATATATAT	DLAT	ENSG00000150768.18	transcript	ENST00000280346.11	protein_coding		3282		chr11	TogoVar
DLC1_chr8_13078361_13519851	13297282	T T	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02922.hp1 HG03490.hp1 others(2): Show HG00642.hp1 HG02922.hp1 HG03490.hp1 HG04228.hp1 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0002c0021	a0001c0001t0012 a0002c0002t0002 a0002c0006t0007 others(1): Show a0001c0001t0012 a0002c0002t0002 a0002c0006t0007 a0002c0021t0018	a0001c0001t0012g0208 a0002c0002t0002g0104 a0002c0002t0002g0126 others(2): Show a0001c0001t0012g0208 a0002c0002t0002g0104 a0002c0002t0002g0126 a0002c0006t0007g0197 a0002c0021t0018g0012	5	12	0.4167	31	c.134 others(50): Show c.1348+7986_1348+7987insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLG1_chr3_197037560_197303612	197158634	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03834.hp1 NA19030.hp2 HG00735.hp2 HG03834.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0004g0260 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0004g0260	3	96	0.0313	31	c.484 others(48): Show c.484-8839_484-8838insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	5/24			chr3	TogoVar
DLG2_chr11_83450173_85632344	84402881	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	5	0.2000	31	c.519 others(52): Show c.519+131688_519+131689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27			chr11	TogoVar
DLGAP1_chr18_3491032_4460307	3860111	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAATAAATAAATAAAAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	77	0.0130	31	c.957 others(50): Show c.957+19000_957+19001insATTTTTTATTTATTTATTTTTTTTTT TTTTT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	4/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	1014305	A A	ACGCCTCC others(24): Show ACGCCTCCACTGTGTGTGACCAGGACAGACGG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	37	0.0270	31	c.73+ others(50): Show c.73+106356_73+106357insACCAGGACAGACGGCGCCTCCACTGT GTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1015240	G G	GTGTGTGT others(24): Show GTGTGTGTGACCAGGACAGACGGCGCCTCCAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	40	0.0250	31	c.73+ others(50): Show c.73+107279_73+107280insGTGACCAGGACAGACGGCGCCTCCAC TGTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1017324	G G	GCGCCTCC others(24): Show GCGCCTCCACTGTGTGTGACCAGGACAGACGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	37	0.0270	31	c.73+ others(50): Show c.73+109375_73+109376insACCAGGACAGACGACGCCTCCACTGT GTGTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1187471	A A	ATTTCCCT others(24): Show ATTTCCCTCACACGCCCAGGACCTCTGTGACG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0040 a0002c0007t0008g0040	1	29	0.0345	31	c.74- others(48): Show c.74-71377_74-71376insCCCTCACACGCCCAGGACCTCTGTGACG TTT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1187968	T T	TCTCACGT others(24): Show TCTCACGTGCCCGGGACCTCCGTGACATTTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	31	c.74- others(48): Show c.74-70879_74-70878insCGTGCCCGGGACCTCCGTGACATTTCCC TCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1188009	T T	TCTCACGT others(24): Show TCTCACGTGCCCGGGACCTCCGTGACATTTCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG02895.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0001 a0002c0007t0008 a0001c0003t0001 a0002c0007t0008	a0001c0003t0001g0027 a0002c0007t0008g0040 a0001c0003t0001g0027 a0002c0007t0008g0040	2	40	0.0500	31	c.74- others(48): Show c.74-70837_74-70836insGTGCCCGGGACCTCCGTGACATTTCCCT CAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1641885	T T	TCCTCACC others(24): Show TCCTCACCTGTGTCACCCTCCAACCCGCCGGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0020 a0002c0001t0020	a0002c0001t0020g0024 a0002c0001t0020g0024	1	29	0.0345	31	c.181 others(50): Show c.1810+8858_1810+8859insCAACCCGCCGGCCCTCACCTGTGTCA CCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1641947	T T	TCCTCACC others(24): Show TCCTCACCTGTGTCACCCTCCAACCCGCCAGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02071.hp1 HG02698.hp2 HG01496.hp1 HG02071.hp1 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026	a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016	3	31	0.0968	31	c.181 others(50): Show c.1810+8920_1810+8921insCAACCCGCCAGCCCTCACCTGTGTCA CCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642260	T T	CCACCTGT others(24): Show CCACCTGTGTCACCCTCCAACCCGCCGGCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	39	0.0256	31	c.181 others(50): Show c.1810+9213_1810+9214insCCACCTGTGTCACCCTCCAACCCGCC GGCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642443	T T	TCCTCACC others(24): Show TCCTCACCTGTGTCACCCTCCAACCCGCCGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	30	0.0333	31	c.181 others(50): Show c.1810+9416_1810+9417insCAACCCGCCGGCCCTCACCTGTGTCA CCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642558	C C	CCCCGCCG others(24): Show CCCCGCCGGTCCTCACCTGTGTCACCCTCCAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	23	0.0435	31	c.181 others(50): Show c.1810+9540_1810+9541insCAACCCGCCGGTCCTCACCTGTGTCA CCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642598	T T	TCCTCACC others(24): Show TCCTCACCTGTGTCACCCTCCAACCCGCCGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	26	0.0385	31	c.181 others(50): Show c.1810+9571_1810+9572insCAACCCGCCGGCCCTCACCTGTGTCA CCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642971	T T	TCCTCACC others(24): Show TCCTCACCTGTGTCACCCTCCAACCCGCCGGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	29	0.0345	31	c.181 others(50): Show c.1810+9944_1810+9945insCAACCCGCCGGCCCTCACCTGTGTCA CCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643208	G G	GACCCCGC others(24): Show GACCCCGCCGGTCCTCACCTGTGTCACCCTCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	26	0.0385	31	c.181 others(52): Show c.1810+10163_1810+10164insCCCCGCCGGTCCTCACCTGTGTCA CCCTCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643706	C C	CCCCGCCG others(24): Show CCCCGCCGGTCCTCACCTGTGTCACCCTCCAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	30	0.0333	31	c.181 others(52): Show c.1810+10668_1810+10669insTCCTCACCTGTGTCACCCTCCAAC CCGCCGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1644016	C C	CCCCGCCG others(24): Show CCCCGCCGGTCCTCACCTGTGTCACCCTGGAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	18	0.0556	31	c.181 others(52): Show c.1810+10978_1810+10979insTCCTCACCTGTGTCACCCTGGAAC CCGCCGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1644087	T T	TCCTCACC others(24): Show TCCTCACCTGTGTCACCCTCCAACCCGCCGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0018 a0002c0001t0001g0018	1	21	0.0476	31	c.181 others(52): Show c.1810+11060_1810+11061insCAACCCGCCGGCCCTCACCTGTGT CACCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1683857	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0005 a0001c0002t0023g0005	1	40	0.0250	31	c.270 others(50): Show c.2704+5228_2704+5229insATATATATATATATATATATATATAT ATATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	12/14			chr8	TogoVar
DMC1_chr22_38513948_38575183	38557956	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG00423.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0236 a0001c0001t0001g0237	2	135	0.0148	31	c.327 others(48): Show c.327-2548_327-2547insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	DMC1	ENSG00000100206.11	transcript	ENST00000216024.7	protein_coding	5/13			chr22	TogoVar
DMD_chrX_31114222_33216549	31559640	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18612.hp1 NA18952.hp1 HG02683.hp1 NA18612.hp1 NA18952.hp1	a0001 a0013 a0028 a0001 a0013 a0028	a0001c0002 a0013c0059 a0028c0028 a0001c0002 a0013c0059 a0028c0028	a0001c0002t0001 a0013c0059t0004 a0028c0028t0004 a0001c0002t0001 a0013c0059t0004 a0028c0028t0004	a0001c0002t0001g0047 a0013c0059t0004g0065 a0028c0028t0004g0024 a0001c0002t0001g0047 a0013c0059t0004g0065 a0028c0028t0004g0024	3	94	0.0319	31	c.821 others(52): Show c.8218-52188_8218-52187insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32312942	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18994.hp1 NA19058.hp1 HG01099.hp1 NA18994.hp1 NA19058.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0002 a0006c0006 a0008c0011 a0001c0002 a0006c0006 a0008c0011	a0001c0002t0001 a0006c0006t0001 a0008c0011t0001 a0001c0002t0001 a0006c0006t0001 a0008c0011t0001	a0001c0002t0001g0085 a0006c0006t0001g0013 a0008c0011t0001g0036 a0001c0002t0001g0085 a0006c0006t0001g0013 a0008c0011t0001g0036	3	30	0.1000	31	c.592 others(50): Show c.5923-2667_5923-2666insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	41/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32859547	T T	TTATATTA others(24): Show TTATATTATAATATATATATAATATTATATTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0005 a0008c0011t0005	a0008c0011t0005g0117 a0008c0011t0005g0117	1	126	0.0079	31	c.94- others(46): Show c.94-9728_94-9727insTAATATAATATTATATATATATTATAATAT A	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMD_chrX_31114222_33216549	32949966	A A	AAAATAAA others(24): Show AAAATAAACATCCAGTGTAAAGGTGCAGAGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02735.hp1 HG03195.hp1 others(4): Show HG02723.hp2 HG02735.hp1 HG03195.hp1 HG03486.hp2 HG03654.hp1 HG04228.hp1 NA18994.hp1	a0001 a0006 a0024 others(2): Show a0001 a0006 a0024 a0026 a0027	a0001c0001 a0001c0002 a0001c0053 others(4): Show a0001c0001 a0001c0002 a0001c0053 a0006c0006 a0024c0034 a0026c0024 a0027c0044	a0001c0001t0001 a0001c0002t0001 a0001c0053t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0053t0001 a0006c0006t0003 a0024c0034t0006 a0026c0024t0008 a0027c0044t0003	a0001c0001t0001g0076 a0001c0002t0001g0085 a0001c0053t0001g0096 others(4): Show a0001c0001t0001g0076 a0001c0002t0001g0085 a0001c0053t0001g0096 a0006c0006t0003g0026 a0024c0034t0006g0007 a0026c0024t0008g0105 a0027c0044t0003g0122	7	111	0.0631	31	c.93+ others(48): Show c.93+70172_93+70173insGCCTCTGCACCTTTACACTGGATGTTTA TTT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar

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