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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DPH6_chr15_35365880_35551165	35496567	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	55	0.0182	17	c.312 others(36): Show c.312+41706_312+41707insATATATATATATATATA		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPH6_chr15_35365880_35551165	35496585	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	226	0.0044	17	c.312 others(36): Show c.312+41688_312+41689insTATATATATATATATAT		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	3/8						chr15	TogoVar
DPH6_chr15_35365880_35551165	35542966	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	226	0.0044	17	c.24- others(30): Show c.24-460_24-459insATATATATATATATATA		DPH6	ENSG00000134146.12	transcript	ENST00000256538.9	protein_coding	1/8						chr15	TogoVar
DPP10_chr2_114437641_115850780	114591554	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0049 a0003c0003t0003g0049	1	35	0.0286	17	c.60+ others(36): Show c.60+148718_60+148734dupTTTTTTTTTTTTTTTTT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	114987804	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0024 a0001c0002t0013g0024	1	4	0.2500	17	c.61- others(36): Show c.61-321423_61-321422insTTTTTTTTTTTTTTTTT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115286526	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03239.hp2 NA19079.hp1 others(2): Show HG01192.hp1 HG03239.hp2 NA19079.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0001 a0005c0007 a0001c0002 a0002c0001 a0005c0007	a0001c0002t0001 a0001c0002t0009 a0002c0001t0002 others(1): Show a0001c0002t0001 a0001c0002t0009 a0002c0001t0002 a0005c0007t0011	a0001c0002t0001g0014 a0001c0002t0001g0028 a0001c0002t0009g0034 others(2): Show a0001c0002t0001g0014 a0001c0002t0001g0028 a0001c0002t0009g0034 a0002c0001t0002g0055 a0005c0007t0011g0052	5	26	0.1923	17	c.61- others(34): Show c.61-22713_61-22712insTATATATATATATATAT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25						chr2	TogoVar
DPP10_chr2_114437641_115850780	115334230	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0037 a0002c0001t0002g0037	1	13	0.0769	17	c.176 others(34): Show c.176-9571_176-9570insTTTTTTTTTTTTTTTTT		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115415841	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0011 a0002c0001t0002g0011	1	9	0.1111	17	c.271 others(36): Show c.271+71929_271+71930insATATATATATATATATA		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25						chr2	TogoVar
DPP10_chr2_114437641_115850780	115560403	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0046 a0003c0003t0001g0046	1	29	0.0345	17	c.441 others(36): Show c.441+34432_441+34433insAAAAATATATATATATA		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	5/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115560403	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0034 a0001c0002t0009g0034	1	29	0.0345	17	c.441 others(36): Show c.441+34432_441+34433insAAATATATATATATATA		DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	5/25					INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP3_chr11_66475434_66514657	66501825	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0212 a0001c0012t0001g0212	1	241	0.0041	17	c.187 others(36): Show c.1879-2772_1879-2771insAAAAAAAAAAAAAAAAA		DPP3	ENSG00000254986.8	transcript	ENST00000531863.6	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr11	TogoVar
DPP6_chr7_154047398_154899285	154135855	T T	TGCACTTC others(10): Show TGCACTTCCTGTGAGCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp1 HG03579.hp1 HG02486.hp2 HG03453.hp1 HG03579.hp1	a0002 a0002	a0002c0008 a0002c0009 a0002c0008 a0002c0009	a0002c0008t0006 a0002c0008t0012 a0002c0009t0004 a0002c0008t0006 a0002c0008t0012 a0002c0009t0004	a0002c0008t0006g0034 a0002c0008t0012g0001 a0002c0009t0004g0004 a0002c0008t0006g0034 a0002c0008t0012g0001 a0002c0009t0004g0004	3	38	0.0789	17	c.243 others(36): Show c.243+82793_243+82809dupGCACTTCCTGTGAGCCC		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154575442	G G	GTGTATGT others(10): Show GTGTATGTGTGTGTGATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02129.hp2 others(2): Show HG02040.hp1 HG02040.hp2 HG02129.hp2 HG02922.hp1 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 a0001c0001 a0001c0015 a0002c0002	a0001c0001t0005 a0001c0001t0016 a0001c0015t0017 others(2): Show a0001c0001t0005 a0001c0001t0016 a0001c0015t0017 a0002c0002t0002 a0002c0002t0029	a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0015t0017g0036 others(2): Show a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0015t0017g0036 a0002c0002t0002g0021 a0002c0002t0029g0003	5	8	0.6250	17	c.627 others(34): Show c.627+8529_627+8530insATGTGTGTGTGATATGT		DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	5/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP7_chr9_137105546_137119733	137114414	G G	GGGGGGCG others(10): Show GGGGGGCGGCGGGACGGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	452	0.0022	17	c.181 others(30): Show c.181+32_182-33dupGCCGTCCCGCCGCCCCC		DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	2/12						chr9	TogoVar
DPP8_chr15_65437467_65522689	65494149	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0013 a0001c0003t0015g0013	1	25	0.0400	17	c.715 others(34): Show c.715+3714_715+3715insAAAAAAAAAAAAAAAAA		DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19						chr15	TogoVar
DPP9_chr19_4670227_4728842	4670512	T T	TGCCGAGG others(10): Show TGCCGAGGGGGCGGGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01975.hp2 HG01978.hp1 others(9): Show HG01358.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02257.hp2 HG02280.hp2 HG03239.hp1 HG03540.hp2 NA18984.hp1 NA19060.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0159 a0001c0001t0001g0182 a0001c0001t0001g0268 others(9): Show a0001c0001t0001g0159 a0001c0001t0001g0182 a0001c0001t0001g0268 a0001c0001t0002g0032 a0001c0001t0003g0069 a0001c0001t0003g0084 a0001c0001t0004g0140 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0190 a0001c0001t0005g0085	12	299	0.0401	17	c.60 others(28): Show c.6051_*6052insGGCCCCGCCCCCTCGGC		DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding					4714		chr19	TogoVar
DPPA3_chr12_7706433_7722559	7712077	G G	GGCTATTT others(10): Show GGCTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00639.hp1 others(56): Show HG00140.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01934.hp1 HG02015.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02735.hp2 HG02922.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18977.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19082.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0073 a0001c0001t0001g0083 others(21): Show a0001c0001t0001g0022 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0096 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0103	59	64	0.9219	17	c.82+ others(30): Show c.82+425_82+426insGCTATTTTTTTTTTTTT		DPPA3	ENSG00000187569.3	transcript	ENST00000345088.3	protein_coding	1/3						chr12	TogoVar
DPPA5_chr6_73348063_73359276	73356988	T T	TCAAAAAA others(10): Show TCAAAAAAAAAAAAACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	425	0.0024	17	c.-27 others(28): Show c.-2764_-2763insTTGTTTTTTTTTTTTTG		DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding					2713		chr6	TogoVar
DPPA5_chr6_73348063_73359276	73356988	T T	TCAAAAAA others(10): Show TCAAAAAAAAAACAACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	425	0.0024	17	c.-27 others(28): Show c.-2764_-2763insTTGTTGTTTTTTTTTTG		DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding					2713		chr6	TogoVar
DPPA5_chr6_73348063_73359276	73356990	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	393	0.0025	17	c.-27 others(28): Show c.-2766_-2765insGTTTTTTTTTTTTTTTT		DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding					2715		chr6	TogoVar
DPPA5_chr6_73348063_73359276	73356991	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 NA18943.hp1 NA19003.hp2 HG01123.hp1 NA18943.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0001t0001g0001 a0001c0002t0001g0002	3	51	0.0588	17	c.-27 others(28): Show c.-2767_-2766insGTTTTTTTTTTTTTTTT		DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding					2716		chr6	TogoVar
DPT_chr1_168690468_168734206	168708371	C C	CTGCTGTC others(10): Show CTGCTGTCTGCACAATTG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	436	0.0023	17	c.431 others(34): Show c.431+5849_431+5850insCAATTGTGCAGACAGCA		DPT	ENSG00000143196.5	transcript	ENST00000367817.4	protein_coding	2/3						chr1	TogoVar
DPY19L1_chr7_34923881_35042485	35017501	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01167.hp1 others(39): Show HG01069.hp2 HG01074.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01975.hp1 HG02056.hp2 HG02083.hp2 HG02165.hp1 HG02273.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02886.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp1 HG06807.hp1 NA18946.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18974.hp2 NA18978.hp1 NA18986.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19011.hp1 NA19054.hp1 NA19058.hp1 NA19070.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19089.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0007c0009t0002	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(39): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0160 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0005g0258 a0001c0001t0005g0265 a0001c0001t0006g0252 a0007c0009t0002g0250	42	182	0.2308	17	c.411 others(32): Show c.411+364_411+380dupTTTTTTTTTTTTTTTTT		DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	3/21						chr7	TogoVar
DPY19L1_chr7_34923881_35042485	35027668	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG01257.hp2 others(3): Show HG01243.hp1 HG01256.hp1 HG01257.hp2 HG02922.hp1 NA18946.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0244 a0001c0001t0002g0253 a0001c0001t0002g0254 others(3): Show a0001c0001t0002g0244 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0006g0257	6	131	0.0458	17	c.299 others(34): Show c.299-9089_299-9073dupTTTTTTTTTTTTTTTTT		DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	1/21						chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63610841	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02165.hp1 HG02717.hp1 others(4): Show HG01884.hp1 HG02165.hp1 HG02717.hp1 HG02922.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0001g0236 others(4): Show a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0015t0001g0310	7	118	0.0593	17	c.121 others(36): Show c.1219-2183_1219-2167dupTTTTTTTTTTTTTTTTT		DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	11/21						chr12	TogoVar
DPY19L3_chr19_32400770_32490890	32445440	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01169.hp1 others(9): Show HG00621.hp2 HG00735.hp1 HG01169.hp1 HG01361.hp1 HG01978.hp2 HG02145.hp2 HG02273.hp2 HG02300.hp2 NA18944.hp1 NA18973.hp1 NA19058.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0006 a0001c0003t0004 a0001c0002t0006 a0001c0003t0004	a0001c0002t0006g0085 a0001c0002t0006g0088 a0001c0002t0006g0089 others(9): Show a0001c0002t0006g0085 a0001c0002t0006g0088 a0001c0002t0006g0089 a0001c0002t0006g0090 a0001c0002t0006g0095 a0001c0002t0006g0097 a0001c0002t0006g0100 a0001c0002t0006g0101 a0001c0002t0006g0102 a0001c0002t0006g0104 a0001c0002t0006g0231 a0001c0003t0004g0049	12	57	0.2105	17	c.855 others(34): Show c.855+5535_855+5551dupAAAAAAAAAAAAAAAAA		DPY19L3	ENSG00000178904.19	transcript	ENST00000392250.7	protein_coding	8/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
DPYSL2_chr8_26509031_26663175	26538441	A A	AGAGCGAT others(10): Show AGAGCGATCCCTTGGCAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	314	0.0032	17	c.354 others(36): Show c.354+23765_354+23781dupGCGATCCCTTGGCATGA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556150	A A	ATATAGTA others(10): Show ATATAGTATATATATACT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0278 a0001c0002t0045g0278	1	286	0.0035	17	c.355 others(36): Show c.355-25819_355-25818insTATAGTATATATATACT		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13						chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556260	A A	AGTATATA others(10): Show AGTATATATATAGTATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02976.hp1 others(3): Show HG01891.hp1 HG02622.hp2 HG02976.hp1 HG03130.hp2 NA20129.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0001c0015 a0003c0014 a0001c0006 a0001c0015 a0003c0014	a0001c0006t0021 a0001c0006t0022 a0001c0006t0030 others(2): Show a0001c0006t0021 a0001c0006t0022 a0001c0006t0030 a0001c0015t0029 a0003c0014t0022	a0001c0006t0021g0313 a0001c0006t0021g0314 a0001c0006t0022g0312 others(3): Show a0001c0006t0021g0313 a0001c0006t0021g0314 a0001c0006t0022g0312 a0001c0006t0030g0308 a0001c0015t0029g0309 a0003c0014t0022g0311	6	307	0.0195	17	c.355 others(36): Show c.355-25709_355-25708insGTATATATATAGTATAT		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13						chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556351	A A	ATAGTATA others(10): Show ATAGTATATATATATAGT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0223 a0001c0002t0004g0223	1	314	0.0032	17	c.355 others(36): Show c.355-25618_355-25617insTAGTATATATATATAGT		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13						chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132186857	C C	CGGGGGCG others(10): Show CGGGGGCGGGGCCTATCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	415	0.0024	17	c.-20 others(26): Show c.-207_-206insGGGGGCGGGGCCTATCG		DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding					90		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132205982	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	262	0.0038	17	c.10 others(28): Show c.1052_*1053insCCCCCCCCCCCCCCCCC		DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding					224		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132205982	G G	GGCCCCCC others(10): Show GGCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0009 a0001c0003t0005g0009	1	262	0.0038	17	c.10 others(28): Show c.1052_*1053insGCCCCCCCCCCCCCCCC		DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding					224		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18522.hp1 NA19240.hp2 HG02559.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0027 a0001c0002t0039 a0001c0002t0006 a0001c0002t0027 a0001c0002t0039	a0001c0002t0006g0080 a0001c0002t0027g0083 a0001c0002t0039g0019 a0001c0002t0006g0080 a0001c0002t0027g0083 a0001c0002t0039g0019	3	21	0.1429	17	c.947 others(34): Show c.947+2227_947+2228insAAAAAAAAAAAAAAAAA		DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02965.hp2 others(3): Show HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0002g0089 a0001c0001t0002g0091 others(3): Show a0001c0001t0001g0102 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103	6	67	0.0896	17	c.132 others(34): Show c.132-2663_132-2647dupTTTTTTTTTTTTTTTTT		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101904426	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0248 a0001c0001t0012g0248	1	84	0.0119	17	c.342 others(34): Show c.342+2993_342+2994insTTTTTTTTTTTTTTTTT		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	3/6						chr12	TogoVar
DRAM1_chr12_101872580_101928612	101920297	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0245 a0001c0001t0014g0245	1	303	0.0033	17	c.672 others(31): Show c.672+99_672+115dupTTTTTTTTTTTTTTTTT		DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
DRC3_chr17_17967862_18021889	18019177	A A	ACACACAC others(10): Show ACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	322	0.0031	17	c.25 others(28): Show c.2506_*2507insCACACACACACACACAC		DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding					2289		chr17	TogoVar
DRC3_chr17_17967862_18021889	18019186	C C	CACACACA others(10): Show CACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0120 a0002c0002t0002g0120	1	309	0.0032	17	c.25 others(28): Show c.2515_*2516insACACACACACACACACA		DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding					2298		chr17	TogoVar
DRD1_chr5_175435036_175449182	175443071	T T	TCCATGGC others(10): Show TCCATGGCAGAGGTGTTC	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0035 a0004c0009t0001g0035	1	488	0.0020	17	c.12_ others(22): Show c.12_28dupGAACACCTCTGCCATGG	p.Asp others(4): Show p.Asp10fs	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding	2/2	995/4031	28/1341	10/446			chr5	TogoVar
DRD1_chr5_175435036_175449182	175446090	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03453.hp2 HG02647.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	2	180	0.0111	17	c.-28 others(28): Show c.-2876_-2875insTTTTTTTTTTTTTTTTT		DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding					1909		chr5	TogoVar
DRD3_chr3_114122580_114184052	114164220	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0291 a0001c0003t0001g0291	1	118	0.0085	17	c.271 others(34): Show c.271-4370_271-4354dupTTTTTTTTTTTTTTTTT		DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	2/6						chr3	TogoVar
DRG2_chr17_18082948_18112969	18090406	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02572.hp2 HG01256.hp2 HG01258.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0031 a0001c0002t0002g0020 a0001c0002t0002g0031	3	147	0.0204	17	c.64+ others(32): Show c.64+2320_64+2321insATATATATATTTTTTTT		DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18090407	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	392	0.0026	17	c.64+ others(32): Show c.64+2320_64+2321insATATATATATATATATA		DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12						chr17	TogoVar
DROSHA_chr5_31395494_31537093	31397470	A A	ATATATAT others(10): Show ATATATATATATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01934.hp1 HG01981.hp2 others(10): Show HG00558.hp1 HG01934.hp1 HG01981.hp2 HG02015.hp1 NA18747.hp1 NA18947.hp1 NA18969.hp2 NA19010.hp2 NA19011.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0002c0005t0007	a0001c0001t0001g0112 a0001c0002t0001g0059 a0001c0002t0001g0113 others(10): Show a0001c0001t0001g0112 a0001c0002t0001g0059 a0001c0002t0001g0113 a0001c0002t0001g0157 a0001c0002t0001g0186 a0001c0002t0001g0246 a0002c0005t0001g0273 a0002c0005t0001g0276 a0002c0005t0001g0277 a0002c0005t0001g0278 a0002c0005t0007g0011 a0002c0005t0007g0023 a0002c0005t0007g0024	13	309	0.0421	17	c.39 others(28): Show c.3961_*3962insCTATATATATATATATA		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding					3023		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(10): Show TATATATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0097 a0001c0018t0001g0097	1	112	0.0089	17	c.342 others(34): Show c.3420-522_3420-521insGGCGCATATATATATAT		DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35						chr5	TogoVar
DSC1_chr18_31124236_31167856	31159047	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02572.hp2 others(1): Show HG02055.hp1 HG02559.hp2 HG02572.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0027 a0001c0003 a0001c0013 a0001c0027	a0001c0003t0002 a0001c0013t0001 a0001c0027t0001 a0001c0003t0002 a0001c0013t0001 a0001c0027t0001	a0001c0003t0002g0150 a0001c0013t0001g0040 a0001c0027t0001g0149 a0001c0003t0002g0150 a0001c0013t0001g0040 a0001c0027t0001g0149	4	78	0.0513	17	c.148 others(32): Show c.148+381_148+397dupAAAAAAAAAAAAAAAAA		DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15						chr18	TogoVar
DSC3_chr18_30984365_31047742	30995971	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0093 a0001c0001t0011g0093	1	142	0.0070	17	c.249 others(34): Show c.2493+803_2493+819dupTTTTTTTTTTTTTTTTT		DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	15/15						chr18	TogoVar
DSC3_chr18_30984365_31047742	31036798	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG00642.hp1 others(35): Show HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG01192.hp2 HG01257.hp2 HG01952.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02965.hp1 HG03098.hp1 HG03139.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG04204.hp2 NA18940.hp1 NA18940.hp2 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18975.hp1 NA18977.hp1 NA18986.hp1 NA18987.hp1 NA18994.hp1 NA19002.hp2 NA19011.hp1 NA19070.hp2 NA19077.hp1 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0031 a0001c0001t0044 a0001c0001t0085 a0001c0001t0100 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0009 a0001c0004t0013 a0001c0004t0016 a0001c0007t0010 a0004c0009t0001 a0004c0009t0008	a0001c0001t0001g0086 a0001c0001t0001g0329 a0001c0001t0002g0106 others(35): Show a0001c0001t0001g0086 a0001c0001t0001g0329 a0001c0001t0002g0106 a0001c0001t0002g0159 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0007g0101 a0001c0001t0007g0103 a0001c0001t0007g0108 a0001c0001t0007g0330 a0001c0001t0008g0087 a0001c0001t0011g0102 a0001c0001t0014g0104 a0001c0001t0019g0328 a0001c0001t0023g0352 a0001c0001t0023g0356 a0001c0001t0027g0278 a0001c0001t0031g0105 a0001c0001t0044g0096 a0001c0001t0044g0097 a0001c0001t0085g0107 a0001c0001t0100g0355 a0001c0004t0002g0327 a0001c0004t0003g0099 a0001c0004t0003g0109 a0001c0004t0003g0172 a0001c0004t0003g0173 a0001c0004t0003g0174 a0001c0004t0005g0110 a0001c0004t0006g0176 a0001c0004t0009g0165 a0001c0004t0013g0175 a0001c0004t0013g0177 a0001c0004t0016g0178 a0001c0004t0016g0219 a0001c0007t0010g0100 a0004c0009t0001g0112 a0004c0009t0008g0111	38	144	0.2639	17	c.70- others(32): Show c.70-4523_70-4522insAAAAAAAAAAAAAAAAA		DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15						chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117424677	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02976.hp2 HG03195.hp2 HG02055.hp1 HG02976.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0036 a0002c0001 a0002c0066 a0001c0036 a0002c0001 a0002c0066	a0001c0036t0001 a0002c0001t0002 a0002c0066t0002 a0001c0036t0001 a0002c0001t0002 a0002c0066t0002	a0001c0036t0001g0063 a0002c0001t0002g0176 a0002c0066t0002g0070 a0001c0036t0001g0063 a0002c0001t0002g0176 a0002c0066t0002g0070	3	6	0.5000	17	c.36 others(28): Show c.3650_*3651insTTTTTTTTTTTTTTTTT		DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding					3094		chr11	TogoVar

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