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
DYM_chr18_49031387_49465645	49145134	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01168.hp2 others(23): Show HG00423.hp2 HG00621.hp2 HG01168.hp2 HG01255.hp1 HG01257.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02071.hp1 HG02809.hp2 HG02970.hp1 HG03225.hp1 HG03490.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp2 NA18979.hp2 NA19056.hp1 NA19064.hp1 NA19074.hp1 NA19077.hp1 NA19084.hp1 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0019 a0001c0001t0022 a0001c0001t0030 a0001c0003t0009	a0001c0001t0001g0177 a0001c0001t0002g0159 a0001c0001t0002g0171 others(23): Show a0001c0001t0001g0177 a0001c0001t0002g0159 a0001c0001t0002g0171 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0248 a0001c0001t0003g0173 a0001c0001t0003g0188 a0001c0001t0004g0122 a0001c0001t0004g0168 a0001c0001t0004g0190 a0001c0001t0006g0158 a0001c0001t0006g0169 a0001c0001t0006g0208 a0001c0001t0012g0161 a0001c0001t0019g0167 a0001c0001t0022g0178 a0001c0001t0030g0133 a0001c0003t0009g0006	26	131	0.1985	22	c.172 others(43): Show c.1728+18550_1728+18551insTTATATATATATATATATATAT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	15/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49289808	T T	TACACACA others(15): Show TACACACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG03486.hp1 HG02647.hp1 HG02723.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0106 a0001c0001t0007g0109 a0001c0001t0007g0120 a0001c0001t0007g0106 a0001c0001t0007g0109 a0001c0001t0007g0120	3	252	0.0119	22	c.764 others(39): Show c.764-3193_764-3192insGTATATATATATATATGTGTGT	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317551	T T	TTGTCTCT others(15): Show TTGTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	220	0.0045	22	c.763 others(41): Show c.763+14312_763+14313insGAGAGAGAGAGAGAGAGAGACA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49317646	C C	CTCCTCTC others(15): Show CTCCTCTCCTCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG03669.hp1 others(1): Show HG00544.hp1 HG00738.hp2 HG03669.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0016 a0001c0003t0009 a0001c0001t0002 a0001c0001t0016 a0001c0003t0009	a0001c0001t0002g0197 a0001c0001t0016g0125 a0001c0001t0016g0140 others(1): Show a0001c0001t0002g0197 a0001c0001t0016g0125 a0001c0001t0016g0140 a0001c0003t0009g0003	4	190	0.0211	22	c.763 others(41): Show c.763+14217_763+14218insAGGAAGGAAGGAGAGGAGAGGA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	8/17			chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	102047637	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp2 HG02970.hp1 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0037 a0002c0005 a0002c0037	a0002c0005t0006 a0002c0037t0019 a0002c0005t0006 a0002c0037t0019	a0002c0005t0006g0054 a0002c0037t0019g0037 a0002c0005t0006g0054 a0002c0037t0019g0037	2	262	0.0076	22	c.130 others(41): Show c.13007-179_13007-178insATATATATATATATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047639	G G	GTACATAT others(15): Show GTACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0263 a0001c0006t0007g0263	1	192	0.0052	22	c.130 others(41): Show c.13007-177_13007-176insACATATATATATATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02280.hp1 HG02965.hp2 HG01346.hp1 HG02280.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0005 a0001c0001t0002 a0001c0009t0005	a0001c0001t0002g0237 a0001c0009t0005g0005 a0001c0009t0005g0006 a0001c0001t0002g0237 a0001c0009t0005g0005 a0001c0009t0005g0006	3	109	0.0275	22	c.130 others(41): Show c.13007-175_13007-174insGTATATATATATATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1H1_chr14_101959573_102061443	102047641	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0017 a0001c0009t0005g0017	1	107	0.0093	22	c.130 others(41): Show c.13007-175_13007-174insGTGTGTGTATATATATATATAT	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	72/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
DYNC1I1_chr7_95767554_96103424	95823952	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp2 NA19240.hp2 others(1): Show HG02630.hp2 HG03195.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0164 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0164 a0001c0002t0001g0032	4	46	0.0870	22	c.315 others(39): Show c.315-4099_315-4078dupATATATATATATATATATATAT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95936956	T T	TCTCACAC others(15): Show TCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	44	0.0227	22	c.491 others(41): Show c.491-40555_491-40554insTCACACACACACACACACACAC	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95936956	T T	TCTCTCAC others(15): Show TCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03130.hp1 HG00642.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0189 a0001c0002t0001g0190 a0001c0001t0002g0189 a0001c0002t0001g0190	2	45	0.0444	22	c.491 others(41): Show c.491-40555_491-40554insTCTCACACACACACACACACAC	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	95986023	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19240.hp2 NA18966.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0094 a0001c0001t0001g0074 a0001c0001t0001g0094	2	39	0.0513	22	c.744 others(38): Show c.744-1014_744-993dupGTGTGTGTGTGTGTGTGTGTGT	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC1I1_chr7_95767554_96103424	96100650	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02056.hp1 HG03239.hp1 others(3): Show HG00639.hp1 HG02056.hp1 HG03239.hp1 HG03490.hp2 HG04184.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0083 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0001g0198	6	80	0.0750	22	c.30 others(33): Show c.3057_*3058insTGTGTGTGTGTGTGTGTGTGTG	DYNC1I1	ENSG00000158560.14	transcript	ENST00000447467.6	protein_coding		2227		chr7	TogoVar
DYNC1I2_chr2_171682469_171755158	171747207	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	75	0.0133	22	c.180 others(39): Show c.1804-565_1804-544dupATATATATATATATATATATAT	DYNC1I2	ENSG00000077380.16	transcript	ENST00000397119.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNC2H1_chr11_103104426_103484863	103288684	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19012.hp1 NA18612.hp1 NA19012.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0013 a0002c0003 a0006c0013	a0002c0003t0001 a0006c0013t0001 a0002c0003t0001 a0006c0013t0001	a0002c0003t0001g0016 a0006c0013t0001g0078 a0002c0003t0001g0016 a0006c0013t0001g0078	2	119	0.0168	22	c.110 others(43): Show c.11095+1084_11095+1105dupAAAAAAAAAAAAAAAAAAAAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	75/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103309168	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	19	0.0526	22	c.114 others(43): Show c.11493+1340_11493+1361dupTTTTTTTTTTTTTTTTTTTTTT	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	78/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103453615	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp1 HG03209.hp2 HG01081.hp1 HG02572.hp1 HG03209.hp2	a0002 a0003 a0022 a0002 a0003 a0022	a0002c0016 a0003c0002 a0022c0043 a0002c0016 a0003c0002 a0022c0043	a0002c0016t0002 a0003c0002t0001 a0022c0043t0001 a0002c0016t0002 a0003c0002t0001 a0022c0043t0001	a0002c0016t0002g0257 a0003c0002t0001g0130 a0022c0043t0001g0068 a0002c0016t0002g0257 a0003c0002t0001g0130 a0022c0043t0001g0068	3	78	0.0385	22	c.124 others(43): Show c.12457-1565_12457-1544dupTATATATATATATATATATATA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	85/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2H1_chr11_103104426_103484863	103483022	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0062 a0001c0025t0001g0062	1	32	0.0313	22	c.37 others(33): Show c.3769_*3770insAAAAAAAAAAAAAAAAAAAAAA	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding		3160		chr11	TogoVar
DYNC2I2_chr9_128628653_128661847	128650526	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0063 a0001c0005t0001g0063	1	284	0.0035	22	c.186 others(39): Show c.186+5993_186+6014dupATATATATATATATATATATAT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2I2_chr9_128628653_128661847	128655335	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18960.hp2 NA18906.hp2 NA18960.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0001 a0001c0005t0001 a0001c0006t0001	a0001c0005t0001g0282 a0001c0006t0001g0184 a0001c0005t0001g0282 a0001c0006t0001g0184	2	21	0.0952	22	c.186 others(39): Show c.186+1184_186+1205dupTTTTTTTTTTTTTTTTTTTTTT	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
DYNC2LI1_chr2_43769039_43815010	43782011	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0119 a0011c0010t0002g0119	1	196	0.0051	22	c.127 others(39): Show c.127-1505_127-1484dupGTGTGTGTGTGTGTGTGTGTGT	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNLT1_chr6_158631474_158649743	158636051	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	342	0.0029	22	c.77 others(31): Show c.775_*776insTATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		422		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(15): Show ATATATATATATATACATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	185	0.0054	22	c.75 others(31): Show c.757_*758insAAAAAATGTATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	185	0.0054	22	c.75 others(31): Show c.757_*758insAATATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01258.hp1 NA18940.hp2 others(1): Show HG01192.hp1 HG01258.hp1 NA18940.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0035	4	188	0.0213	22	c.75 others(31): Show c.757_*758insAAAATATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03669.hp2 NA18967.hp1 others(1): Show HG03130.hp1 HG03669.hp2 NA18967.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0001 a0001c0001t0001g0020	4	188	0.0213	22	c.75 others(31): Show c.757_*758insAAAAAATATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18999.hp1 NA19240.hp1 others(1): Show NA18994.hp1 NA18999.hp1 NA19240.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0034 a0001c0001t0001g0001 a0001c0001t0006g0034	4	188	0.0213	22	c.75 others(31): Show c.757_*758insAAAAAAAATATATATATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT2B_chr3_196286219_196323240	196317389	T T	TGTGTTGT others(15): Show TGTGTTGTGTGGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02056.hp2 HG02109.hp2 others(2): Show HG00423.hp2 HG02056.hp2 HG02109.hp2 HG02155.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0020 a0001c0001t0001g0196 a0001c0001t0001g0203	5	210	0.0238	22	c.113 others(37): Show c.113+650_113+651insCCACACACACACCACACAACAC	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
DYRK1A_chr21_37361773_37531358	37463203	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0158 a0001c0001t0005g0158	1	18	0.0556	22	c.11- others(37): Show c.11-9472_11-9451dupGTGTGTGTGTGTGTGTGTGTGT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(15): Show GTTTTTGTTTTTGTTTTTGTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19088.hp1 NA18969.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0029 a0001c0001t0006g0037 a0001c0001t0006g0029 a0001c0001t0006g0037	2	124	0.0161	22	c.301 others(39): Show c.301-1021_301-1020insGTTTTTGTTTTTGTTTTTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37479614	T T	TTTTGTTT others(15): Show TTTTGTTTTTGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0043 a0001c0001t0031g0043	1	346	0.0029	22	c.301 others(39): Show c.301-1021_301-1020insGTTTTTGTTTTTGTTTTTGTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(15): Show ATTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG01074.hp2 others(22): Show HG00733.hp1 HG00733.hp2 HG01074.hp2 HG01167.hp2 HG01515.hp2 HG01891.hp1 HG02071.hp1 HG02132.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02895.hp1 HG02897.hp1 HG03834.hp2 HG04228.hp1 NA18944.hp2 NA18949.hp1 NA18951.hp1 NA18955.hp1 NA18963.hp2 NA19068.hp2 NA19080.hp2 NA19090.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0017 a0002c0006 a0004c0011 a0005c0028 a0007c0024	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0009t0001 a0001c0017t0001 a0002c0006t0001 a0004c0011t0001 a0005c0028t0001 a0007c0024t0001	a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0088 others(21): Show a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0378 a0001c0002t0001g0090 a0001c0002t0001g0379 a0001c0003t0001g0018 a0001c0003t0001g0087 a0001c0005t0001g0118 a0001c0008t0001g0375 a0001c0009t0001g0020 a0001c0009t0001g0021 a0001c0009t0001g0022 a0001c0017t0001g0248 a0001c0017t0001g0282 a0002c0006t0001g0089 a0004c0011t0001g0302 a0005c0028t0001g0385 a0007c0024t0001g0288	25	293	0.0853	22	c.132 others(39): Show c.132+7250_132+7251insTTGTGTGTGTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTTTGTG others(15): Show ATTTTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01255.hp1 others(8): Show HG00741.hp1 HG01109.hp2 HG01255.hp1 HG01361.hp1 HG01433.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02293.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0320 others(5): Show a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0320 a0001c0005t0001g0002 a0001c0005t0001g0029 a0001c0005t0001g0030 a0001c0005t0001g0031 a0001c0005t0001g0033	11	279	0.0394	22	c.132 others(39): Show c.132+7250_132+7251insTTTTGTGTGTGTGTGTGTGTGT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYSF_chr2_71448561_71691763	71565246	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0027 a0027	a0027c0028 a0027c0028	a0027c0028t0004 a0027c0028t0004	a0027c0028t0004g0047 a0027c0028t0004g0047	1	134	0.0075	22	c.251 others(41): Show c.2511+1051_2511+1052insTTTTTTTTTTTTTTTTTTTTTT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	24/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71570883	C C	CAGATCAC others(15): Show CAGATCACACCCAGCATACCCAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03139.hp1 NA19240.hp2 HG01109.hp1 HG03139.hp1 NA19240.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0011 a0004c0008t0001g0032 a0004c0008t0001g0052 a0004c0008t0001g0011 a0004c0008t0001g0032 a0004c0008t0001g0052	3	190	0.0158	22	c.317 others(39): Show c.3174+161_3174+182dupCCAAAGATCACACCCAGCATAC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71571493	C C	CACACATA others(15): Show CACACATATCACACCCAGCACAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0022 a0022	a0022c0035 a0022c0035	a0022c0035t0001 a0022c0035t0001	a0022c0035t0001g0051 a0022c0035t0001g0051	1	165	0.0061	22	c.317 others(39): Show c.3174+752_3174+753insACACATATCACACCCAGCACAT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54			chr2	TogoVar
DYSF_chr2_71448561_71691763	71572027	T T	TACACCTA others(15): Show TACACCTAGCACACCCACAGATC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG02630.hp1 others(18): Show HG01891.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0005 a0014 others(3): Show a0001 a0005 a0014 a0022 a0023 a0027	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0019 a0001c0041 a0001c0047 a0001c0051 a0001c0052 a0001c0073 a0005c0060 a0014c0059 a0022c0035 a0023c0069 a0027c0028	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 a0001c0010t0002 a0001c0019t0001 a0001c0041t0002 a0001c0047t0002 a0001c0051t0002 a0001c0052t0001 a0001c0073t0001 a0005c0060t0002 a0014c0059t0001 a0022c0035t0001 a0023c0069t0001 a0027c0028t0004	a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0098 others(18): Show a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0098 a0001c0001t0002g0018 a0001c0003t0001g0091 a0001c0004t0001g0149 a0001c0007t0002g0014 a0001c0007t0002g0015 a0001c0007t0002g0142 a0001c0010t0002g0026 a0001c0019t0001g0044 a0001c0041t0002g0144 a0001c0047t0002g0183 a0001c0051t0002g0016 a0001c0052t0001g0008 a0001c0073t0001g0005 a0005c0060t0002g0143 a0014c0059t0001g0093 a0022c0035t0001g0051 a0023c0069t0001g0189 a0027c0028t0004g0047	21	190	0.1105	22	c.317 others(41): Show c.3174+1292_3174+1313dupTAGCACACCCACAGATCACACC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	29/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71565246	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0029 a0029	a0029c0029 a0029c0029	a0029c0029t0005 a0029c0029t0005	a0029c0029t0005g0083 a0029c0029t0005g0083	1	147	0.0068	22	c.256 others(41): Show c.2565+1051_2565+1052insTTTTTTTTTTTTTTTTTTTTTT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	24/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71570883	C C	CAGATCAC others(15): Show CAGATCACACCCAGCATACCCAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03139.hp1 NA19240.hp1 HG01109.hp1 HG03139.hp1 NA19240.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0084 a0004c0011t0001g0103 a0004c0011t0001g0146 a0004c0011t0001g0084 a0004c0011t0001g0103 a0004c0011t0001g0146	3	206	0.0146	22	c.322 others(39): Show c.3228+161_3228+182dupCCAAAGATCACACCCAGCATAC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71571493	C C	CACACATA others(15): Show CACACATATCACACCCAGCACAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	181	0.0055	22	c.322 others(39): Show c.3228+752_3228+753insACACATATCACACCCAGCACAT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55			chr2	TogoVar
DYSF_chr2_71461699_71691763	71572027	T T	TACACCTA others(15): Show TACACCTAGCACACCCACAGATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02630.hp1 others(18): Show HG01891.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03654.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0006 a0015 others(2): Show a0001 a0006 a0015 a0024 a0029	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0019 a0001c0042 a0001c0048 a0001c0052 a0001c0053 a0001c0074 a0001c0078 a0006c0063 a0015c0062 a0024c0072 a0029c0029	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0007t0004 a0001c0010t0001 a0001c0019t0002 a0001c0042t0001 a0001c0048t0002 a0001c0052t0004 a0001c0053t0001 a0001c0074t0001 a0001c0078t0001 a0006c0063t0001 a0015c0062t0001 a0024c0072t0001 a0029c0029t0005	a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0081 others(18): Show a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0081 a0001c0001t0001g0120 a0001c0002t0001g0052 a0001c0003t0001g0043 a0001c0007t0001g0139 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0010t0001g0035 a0001c0019t0002g0187 a0001c0042t0001g0141 a0001c0048t0002g0190 a0001c0052t0004g0021 a0001c0053t0001g0206 a0001c0074t0001g0094 a0001c0078t0001g0199 a0006c0063t0001g0140 a0015c0062t0001g0045 a0024c0072t0001g0144 a0029c0029t0005g0083	21	206	0.1019	22	c.322 others(41): Show c.3228+1292_3228+1313dupTAGCACACCCACAGATCACACC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYTN_chr2_206646621_206723396	206675145	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0131 a0002c0002t0001g0133	2	310	0.0065	22	c.981 others(39): Show c.981-9117_981-9116insTATACACACACACACACACACA	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	9/11			chr2	TogoVar
DZIP1_chr13_95573202_95649706	95610111	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	74	0.0135	22	c.136 others(39): Show c.1364-599_1364-598insTCTCTCTCTCACACACACACAC	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding	12/22			chr13	TogoVar
DZIP3_chr3_108584722_108699840	108622836	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	188	0.0053	22	c.376 others(39): Show c.376-1584_376-1563dupCTCTCTCTCTCTCTCTCTCTCT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01358.hp2 HG02273.hp1 others(8): Show HG00423.hp1 HG01358.hp2 HG02273.hp1 HG02886.hp2 HG03704.hp2 NA18967.hp1 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19011.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0099 a0001c0001t0014g0079	11	16	0.6875	22	c.376 others(39): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTCTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	6	0.1667	22	c.376 others(39): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTGTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	6	0.1667	22	c.376 others(39): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTGTGTGT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631008	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	286	0.0035	22	c.696 others(39): Show c.696+1859_696+1880dupACACACACACACACACACACAC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	18	0.0556	22	c.696 others(39): Show c.696+1880_696+1881insACACACACACACACTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(15): Show ACACACACACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0107	1	18	0.0556	22	c.696 others(39): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar

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