Joint Open Genome and Omics Platform (JoGo)

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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
DNASE1_chr16_3649691_3663095	3653806	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	440	0.0023	18	c.-12 others(29): Show c.-1240_-1239insAAAAAAAAAAAAAAAAAA	DNASE1	ENSG00000213918.11	transcript	ENST00000246949.10	protein_coding		884		chr16	TogoVar
DNER_chr2_229352629_229719555	229505177	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG04199.hp2 NA18975.hp2 HG03540.hp1 HG04199.hp2 NA18975.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0008 a0008c0016 a0001c0001 a0007c0008 a0008c0016	a0001c0001t0001 a0007c0008t0001 a0008c0016t0001 a0001c0001t0001 a0007c0008t0001 a0008c0016t0001	a0001c0001t0001g0038 a0007c0008t0001g0008 a0008c0016t0001g0164 a0001c0001t0001g0038 a0007c0008t0001g0008 a0008c0016t0001g0164	3	176	0.0171	18	c.114 others(37): Show c.1147+7588_1147+7605dupACACACACACACACACAC	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	6/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229656985	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	176	0.0057	18	c.276 others(37): Show c.276+57145_276+57162dupACACACACACACACACAC	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229669369	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	176	0.0057	18	c.276 others(37): Show c.276+44761_276+44778dupATATATATATATATATAT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229700284	A A	ATGTGTGT others(11): Show ATGTGTGTGTGCATGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03492.hp2 NA19070.hp1 HG00621.hp2 HG03492.hp2 NA19070.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0009c0009t0001 a0001c0001t0001 a0009c0009t0001	a0001c0001t0001g0048 a0001c0001t0001g0093 a0009c0009t0001g0070 a0001c0001t0001g0048 a0001c0001t0001g0093 a0009c0009t0001g0070	3	176	0.0171	18	c.276 others(37): Show c.276+13863_276+13864insCACACATGCACACACACA	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNHD1_chr11_6492280_6577020	6517652	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0022 a0022	a0022c0026 a0022c0026	a0022c0026t0001 a0022c0026t0001	a0022c0026t0001g0257 a0022c0026t0001g0257	1	342	0.0029	18	c.139 others(37): Show c.1393-1931_1393-1914dupTTTTTTTTTTTTTTTTTT	DNHD1	ENSG00000179532.13	transcript	ENST00000254579.11	protein_coding	7/42		INFO_REALIGN_3_PRIME	chr11	TogoVar
DNM1L_chr12_32674301_32750650	32717950	G G	GTATATAT others(11): Show GTATATATAGTATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0014 a0001c0006t0004g0014	1	230	0.0044	18	c.620 others(33): Show c.620-675_620-658dupTTATATATAGTATATATA	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNM1_chr9_128198379_128260244	128210348	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02074.hp2 NA18612.hp2 others(1): Show HG01346.hp2 HG02074.hp2 NA18612.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0338 others(1): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0338 a0001c0002t0001g0208	4	350	0.0114	18	c.161 others(35): Show c.161+6731_161+6748dupTTATTATTATTATTATTA	DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM1_chr9_128198379_128260244	128220742	C C	CGCGCGCG others(11): Show CGCGCGCGCGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0314 a0001c0004t0001g0314	1	350	0.0029	18	c.849 others(33): Show c.849+402_849+403insCGCGCGCGTGTGTGTGTG	DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM1_chr9_128198379_128260244	128220742	C C	CGCGCGCG others(11): Show CGCGCGCGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02622.hp1 HG01109.hp2 HG02280.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0014 a0001c0001t0001g0301 a0001c0001t0001g0303	3	350	0.0086	18	c.849 others(33): Show c.849+402_849+403insCGCGCGTGTGTGTGTGTG	DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM1_chr9_128198379_128260244	128220742	C C	CGCGTGTG others(11): Show CGCGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	350	0.0029	18	c.849 others(33): Show c.849+402_849+403insCGTGTGTGTGTGTGTGTG	DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNM2_chr19_10713079_10836903	10724096	A A	AAAAGGAG others(11): Show AAAAGGAGAAACATGGTTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19090.hp2 HG00438.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0259 a0001c0002t0002g0052 a0001c0002t0002g0259	2	278	0.0072	18	c.161 others(35): Show c.161+5695_161+5696insAGGAGAAACATGGTTGAA	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10760827	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02155.hp1 HG02293.hp1 others(14): Show HG00438.hp1 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02976.hp2 NA18963.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19060.hp1 NA19066.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0010t0002	a0001c0001t0001g0108 a0001c0001t0003g0088 a0001c0002t0001g0119 others(14): Show a0001c0001t0001g0108 a0001c0001t0003g0088 a0001c0002t0001g0119 a0001c0002t0002g0049 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0260 a0001c0010t0002g0077	17	278	0.0612	18	c.235 others(35): Show c.235+1033_235+1034insTTTTTTTTTTTTTTTTTT	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10782342	T T	TTTTTTCT others(11): Show TTTTTTCTTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03239.hp2 NA19030.hp2 others(1): Show HG02717.hp1 HG03239.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0199 a0001c0002t0002g0090 a0001c0002t0002g0140 others(1): Show a0001c0001t0001g0199 a0001c0002t0002g0090 a0001c0002t0002g0140 a0001c0002t0002g0170	4	278	0.0144	18	c.689 others(33): Show c.689-610_689-593dupTTTTCTTTTTCTTTTTCT	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10794344	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	278	0.0036	18	c.112 others(35): Show c.1128+507_1128+524dupTGTGTGTGTGTGTGTGTG	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM3_chr1_171836498_172417717	172027617	C C	CACACACA others(11): Show CACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19043.hp1 HG02965.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0005 a0001c0002t0001 a0001c0010t0005	a0001c0002t0001g0065 a0001c0010t0005g0131 a0001c0002t0001g0065 a0001c0010t0005g0131	2	136	0.0147	18	c.590 others(35): Show c.590-4784_590-4783insCACACACACACAGAGAGA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172071086	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01361.hp1 HG01361.hp2 others(5): Show HG01071.hp2 HG01361.hp1 HG01361.hp2 HG02080.hp1 HG02080.hp2 HG02976.hp2 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0012	a0001c0001t0001g0040 a0001c0001t0001g0100 a0001c0001t0002g0035 others(5): Show a0001c0001t0001g0040 a0001c0001t0001g0100 a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0123 a0001c0002t0001g0094 a0001c0002t0003g0066 a0001c0002t0012g0101	8	136	0.0588	18	c.142 others(37): Show c.1422+2198_1422+2215dupATATATATATATATATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172106847	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp1 NA19043.hp1 HG02965.hp2 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0002t0020 a0001c0010t0005 a0001c0002t0001 a0001c0002t0020 a0001c0010t0005	a0001c0002t0001g0065 a0001c0002t0020g0012 a0001c0010t0005g0131 a0001c0002t0001g0065 a0001c0002t0020g0012 a0001c0010t0005g0131	3	136	0.0221	18	c.154 others(39): Show c.1545+13979_1545+13996dupTTTTTTTTTTTTTTTTTT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172227271	G G	GAGATATA others(11): Show GAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	136	0.0074	18	c.166 others(39): Show c.1660-26301_1660-26300insGATATATATATATATATA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172276557	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02055.hp1 NA19030.hp1 HG01256.hp1 HG02055.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0017 a0001c0002t0027 a0001c0001t0002 a0001c0002t0017 a0001c0002t0027	a0001c0001t0002g0092 a0001c0002t0017g0008 a0001c0002t0027g0132 a0001c0001t0002g0092 a0001c0002t0017g0008 a0001c0002t0027g0132	3	136	0.0221	18	c.176 others(39): Show c.1769+22887_1769+22904dupGTGTGTGTGTGTGTGTGT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172283780	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp2 HG02109.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0024 a0001c0002t0004g0009 a0001c0002t0004g0024	2	136	0.0147	18	c.177 others(39): Show c.1770-24945_1770-24944insAAAAAAAAAAAAAAGAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304206	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG01243.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0127 a0001c0002t0001g0062 a0001c0002t0001g0127	2	136	0.0147	18	c.177 others(37): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAAAAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172304222	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03669.hp1 NA19004.hp1 HG01496.hp2 HG03669.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0004 a0001c0001t0003 a0001c0001t0005 a0001c0002t0004	a0001c0001t0003g0087 a0001c0001t0005g0063 a0001c0002t0004g0020 a0001c0001t0003g0087 a0001c0001t0005g0063 a0001c0002t0004g0020	3	136	0.0221	18	c.177 others(37): Show c.1770-4506_1770-4505insAAAAAAAAAAAAAAAAAC	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20			chr1	TogoVar
DNM3_chr1_171836498_172417717	172354110	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0008 a0001c0002t0017g0008	1	136	0.0074	18	c.189 others(39): Show c.1894-24907_1894-24906insAGAGAGAGAGAGAGAGAG	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172354112	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02293.hp1 HG02523.hp1 others(4): Show HG00597.hp1 HG02293.hp1 HG02523.hp1 HG03225.hp2 HG03490.hp2 NA18747.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0003t0002	a0001c0001t0002g0070 a0001c0001t0002g0080 a0001c0001t0003g0088 others(4): Show a0001c0001t0002g0070 a0001c0001t0002g0080 a0001c0001t0003g0088 a0001c0002t0002g0126 a0001c0002t0002g0129 a0001c0003t0002g0054 a0001c0003t0002g0120	7	136	0.0515	18	c.189 others(39): Show c.1894-24893_1894-24876dupGAGAGAGAGAGAGAGAGA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172354112	T T	TGTGAGAG others(11): Show TGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02071.hp2 others(6): Show HG01243.hp2 HG02055.hp2 HG02071.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02965.hp1 HG03471.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0090 a0001c0002t0001g0048 a0001c0002t0001g0052 others(6): Show a0001c0001t0002g0090 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0127 a0001c0002t0001g0135	9	136	0.0662	18	c.189 others(39): Show c.1894-24905_1894-24904insTGAGAGAGAGAGAGAGAG	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172377553	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02630.hp2 others(8): Show HG01243.hp2 HG02451.hp1 HG02630.hp2 HG02965.hp1 HG03453.hp1 HG03669.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0025 a0001c0002t0001 others(4): Show a0001c0001t0004 a0001c0001t0025 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011	a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0025g0038 others(8): Show a0001c0001t0004g0003 a0001c0001t0004g0007 a0001c0001t0025g0038 a0001c0002t0001g0062 a0001c0002t0001g0094 a0001c0002t0001g0105 a0001c0002t0004g0017 a0001c0002t0004g0020 a0001c0002t0009g0075 a0001c0002t0010g0133 a0001c0002t0011g0109	11	136	0.0809	18	c.189 others(37): Show c.1894-1454_1894-1437dupATATATATATATATATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNMBP_chr10_99870577_100014947	99879084	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0252 a0001c0006t0004g0252	1	274	0.0037	18	c.454 others(35): Show c.4548+726_4548+727insTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99883638	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	274	0.0037	18	c.399 others(35): Show c.3997+355_3997+372dupTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	15/16			chr10	TogoVar
DNMBP_chr10_99870577_100014947	99970971	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 homoSapiens_chm13v2.hp1 HG02897.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0005 a0002c0002t0001 a0001c0009t0005 a0002c0002t0001	a0001c0009t0005g0265 a0002c0002t0001g0254 a0001c0009t0005g0265 a0002c0002t0001g0254	2	274	0.0073	18	c.145 others(34): Show c.145+991_145+1008dupTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	2/16			chr10	TogoVar
DNMT1_chr19_10128346_10199953	10186838	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA20129.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0011 a0001c0012t0001g0016 a0001c0012t0001g0011 a0001c0012t0001g0016	2	386	0.0052	18	c.81- others(33): Show c.81-4779_81-4762dupTTTTTTTTTTTTTTTTTT	DNMT1	ENSG00000130816.17	transcript	ENST00000359526.9	protein_coding	1/40			chr19	TogoVar
DNMT3A_chr2_25222874_25346925	25264132	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG04199.hp2 HG02886.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0109 a0001c0001t0048 a0001c0001t0109	a0001c0001t0048g0100 a0001c0001t0109g0206 a0001c0001t0048g0100 a0001c0001t0109g0206	2	294	0.0068	18	c.639 others(37): Show c.639+10791_639+10808dupAAAAAAAAAAAAAAAAAA	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	6/22			chr2	TogoVar
DNMT3A_chr2_25222874_25346925	25278042	C C	CACACACA others(11): Show CACACACACACACAAACAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18948.hp2 NA18975.hp1 others(4): Show HG03942.hp2 NA18948.hp2 NA18975.hp1 NA18975.hp2 NA19056.hp2 NA19060.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0010 a0001c0001t0077 others(4): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0077 a0001c0001t0129 a0001c0001t0137 a0001c0001t0138 a0001c0003t0130	a0001c0001t0002g0158 a0001c0001t0010g0153 a0001c0001t0077g0178 others(4): Show a0001c0001t0002g0158 a0001c0001t0010g0153 a0001c0001t0077g0178 a0001c0001t0129g0124 a0001c0001t0137g0033 a0001c0001t0138g0085 a0001c0003t0130g0094	7	294	0.0238	18	c.449 others(35): Show c.449-2500_449-2499insCTGTTTGTGTGTGTGTGT	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	4/22			chr2	TogoVar
DNMT3A_chr2_25222874_25346925	25300712	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0146 a0001c0002t0146	a0001c0002t0146g0134 a0001c0002t0146g0134	1	294	0.0034	18	c.73- others(31): Show c.73-487_73-470dupATATATATATATATATAT	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding	2/22			chr2	TogoVar
DNMT3L_chr21_44241339_44266897	44264587	C C	CTTGTTTT others(11): Show CTTGTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	392	0.0026	18	c.-28 others(29): Show c.-2856_-2855insCAAAACAAAACAAAACAA	DNMT3L	ENSG00000142182.9	transcript	ENST00000628202.3	protein_coding		2691		chr21	TogoVar
DNPEP_chr2_219367043_219392912	219370143	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00738.hp2 others(21): Show HG00408.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01346.hp2 HG01952.hp2 HG02080.hp1 HG02132.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03492.hp1 HG03710.hp2 HG04204.hp2 NA18949.hp2 NA19003.hp2 NA19012.hp2 NA19066.hp1 NA19083.hp2 NA20129.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0007 a0001c0001 a0001c0002 a0007c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0022 a0001c0002t0004 a0007c0007t0003	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0011 others(11): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0107 a0001c0001t0003g0035 a0001c0001t0004g0027 a0001c0001t0004g0057 a0001c0001t0020g0056 a0001c0001t0022g0169 a0001c0002t0004g0062 a0007c0007t0003g0071	24	370	0.0649	18	c.41 others(29): Show c.4148_*4149insTTTTTTTTTTTTTTTTTT	DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding		1899		chr2	TogoVar
DNPEP_chr2_219367043_219392912	219380842	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(66): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01346.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02145.hp2 HG02155.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03492.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18982.hp2 NA18991.hp1 NA18998.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19083.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0022 a0001c0009t0004	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0047 others(25): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0004g0027 a0001c0001t0004g0057 a0001c0001t0022g0169 a0001c0009t0004g0058	69	370	0.1865	18	c.123 others(35): Show c.1239+475_1239+492dupGTGTGTGTGTGTGTGTGT	DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding	13/14			chr2	TogoVar
DNTTIP1_chr20_45786954_45816418	45814271	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02145.hp2 HG02280.hp1 others(2): Show HG01074.hp2 HG02145.hp2 HG02280.hp1 HG03098.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0004t0002	a0001c0001t0001g0076 a0001c0001t0001g0142 a0001c0001t0001g0146 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0002g0208 a0001c0004t0002g0027	5	412	0.0121	18	c.30 others(29): Show c.3076_*3077insATATATATATATATATAT	DNTTIP1	ENSG00000101457.13	transcript	ENST00000372622.8	protein_coding		2854		chr20	TogoVar
DNTT_chr10_96299434_96343564	96307343	G G	GTTGTTTT others(11): Show GTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	330	0.0030	18	c.203 others(35): Show c.203+2645_203+2646insGTTTTTTTTTTTTTTTTT	DNTT	ENSG00000107447.8	transcript	ENST00000371174.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK10_chr2_224760090_225047468	224921110	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0008 a0008	a0008c0035 a0008c0035	a0008c0035t0002 a0008c0035t0002	a0008c0035t0002g0103 a0008c0035t0002g0103	1	172	0.0058	18	c.244 others(35): Show c.244-4327_244-4326insATATATATATATATATAT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	2/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224961412	C C	CTCTTTCT others(11): Show CTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	172	0.0058	18	c.124 others(37): Show c.124-29745_124-29744insAAGAAAGAAAGAGAAAGA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224961412	C C	CTCTTTCT others(11): Show CTCTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0083 a0002c0012t0001g0083	1	172	0.0058	18	c.124 others(37): Show c.124-29745_124-29744insAAGAAAGAAAAAGAAAGA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224961412	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp2 HG02257.hp1 others(3): Show HG00280.hp2 HG01175.hp2 HG02257.hp1 HG02647.hp1 HG06807.hp2 NA19079.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0006c0010	a0001c0001t0001 a0001c0001t0005 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0002 a0002c0003t0001 a0006c0010t0007	a0001c0001t0001g0141 a0001c0001t0005g0024 a0001c0004t0002g0091 others(3): Show a0001c0001t0001g0141 a0001c0001t0005g0024 a0001c0004t0002g0091 a0002c0003t0001g0057 a0002c0003t0001g0060 a0006c0010t0007g0098	6	172	0.0349	18	c.124 others(37): Show c.124-29745_124-29744insAAGAAAGAAAGAAAGAAA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	224961468	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02027.hp1 NA18991.hp2 HG01884.hp1 HG02027.hp1 NA18991.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0002 a0001c0001t0003 a0005c0014t0010 a0001c0001t0002 a0001c0001t0003 a0005c0014t0010	a0001c0001t0002g0124 a0001c0001t0003g0118 a0005c0014t0010g0071 a0001c0001t0002g0124 a0001c0001t0003g0118 a0005c0014t0010g0071	3	172	0.0174	18	c.124 others(37): Show c.124-29801_124-29800insGAAAGAAAGAAAGAAAGA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK10_chr2_224760090_225047468	225014076	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0160	1	172	0.0058	18	c.123 others(37): Show c.123+28175_123+28176insATATATATATATATATAT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	211	0.0047	18	c.102 others(37): Show c.102+19946_102+19947insTATATATATATATATATA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	ACTATATA others(11): Show ACTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show HG02258.hp1 HG02922.hp2 HG03130.hp1 HG03516.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0102 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0155 a0001c0002t0001g0095 a0001c0002t0001g0196	6	211	0.0284	18	c.102 others(37): Show c.102+19931_102+19932insCTATATATATATATATAT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52			chrX	TogoVar
DOCK11_chrX_118490815_118691147	118544645	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp1 others(1): Show HG00735.hp2 HG01069.hp1 HG01071.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0101 a0001c0003t0002g0022 a0001c0003t0002g0023 others(1): Show a0001c0001t0001g0101 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0024	4	211	0.0190	18	c.393 others(33): Show c.393-663_393-646dupTTTTTTTTTTTTTTTTTT	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	4/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK11_chrX_118490815_118691147	118546210	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18983.hp1 NA18962.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0007 a0001c0002t0001g0008	2	211	0.0095	18	c.558 others(32): Show c.558+98_558+115dupAAAAAAAAAAAAAAAAAA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	6/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK11_chrX_118490815_118691147	118549106	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp1 HG02602.hp1 others(9): Show HG00621.hp1 HG02135.hp1 HG02602.hp1 HG03834.hp2 HG04199.hp1 NA18944.hp1 NA18962.hp1 NA18983.hp1 NA19012.hp1 NA19060.hp1 NA19062.hp1 NA19070.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0006c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0013t0001 a0006c0017t0001	a0001c0001t0001g0031 a0001c0002t0001g0003 a0001c0002t0001g0004 others(9): Show a0001c0001t0001g0031 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0211 a0001c0002t0002g0006 a0001c0002t0002g0117 a0001c0013t0001g0009 a0006c0017t0001g0135	12	211	0.0569	18	c.558 others(35): Show c.558+2997_558+3014dupTGTGTGTGTGTGTGTGTG	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	6/52		INFO_REALIGN_3_PRIME	chrX	TogoVar

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