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
DPP6_chr7_154047398_154899285	154313685	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0018 a0001c0025t0001g0018	1	12	0.0833	32	c.244 others(53): Show c.244-132528_244-132527insGTGTGTGTGTGTATATATATATAT ATATATAT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154313685	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp2 HG02922.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0004 a0001c0015 a0002c0004	a0001c0015t0017 a0002c0004t0006 a0001c0015t0017 a0002c0004t0006	a0001c0015t0017g0036 a0002c0004t0006g0028 a0001c0015t0017g0036 a0002c0004t0006g0028	2	13	0.1538	32	c.244 others(53): Show c.244-132528_244-132527insGTGTGTGTGTGTGTATATATATAT ATATATAT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154313714	T T	TATATATA others(25): Show TATATATATATATATATGCATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0005 a0001c0001t0016g0005	1	35	0.0286	32	c.244 others(53): Show c.244-132499_244-132498insTATATATATATATATGCATACACA CACACACA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154608320	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0015 a0001c0006t0002g0015	1	23	0.0435	32	c.628 others(51): Show c.628-29479_628-29478insATATATATATATATATATATATATAT ATATAT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154668197	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02280.hp1 HG02559.hp2 HG02040.hp1 HG02280.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0021 a0002c0002 a0001c0003 a0001c0021 a0002c0002	a0001c0003t0007 a0001c0021t0011 a0002c0002t0002 a0001c0003t0007 a0001c0021t0011 a0002c0002t0002	a0001c0003t0007g0024 a0001c0021t0011g0022 a0002c0002t0002g0021 a0001c0003t0007g0024 a0001c0021t0011g0022 a0002c0002t0002g0021	3	13	0.2308	32	c.681 others(49): Show c.681-1141_681-1140insTATATATATATATATATATATATATATA TATA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP7_chr9_137105546_137119733	137114124	C C	CCCCGTGA others(25): Show CCCCGTGACCCCCGCCCGCGACCCCGCCCGGCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	452	0.0022	32	c.322 others(45): Show c.322-97_322-96insTGCCGGGCGGGGTCGCGGGCGGGGGTCACGGG	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	3/12			chr9	TogoVar
DPP9_chr19_4670227_4728842	4672030	A A	AATATATA others(25): Show AATATATATATTCATATATTCACATATGTGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01255.hp1 HG01515.hp2 others(9): Show HG00733.hp1 HG01255.hp1 HG01515.hp2 HG01975.hp1 HG02080.hp1 HG02165.hp2 HG02615.hp1 NA18966.hp2 NA18970.hp2 NA18983.hp1 NA18998.hp1 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0006 a0001c0001 a0001c0007 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0007t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0003 a0003c0006t0001	a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0182 others(9): Show a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0226 a0001c0001t0001g0266 a0001c0001t0001g0283 a0001c0001t0001g0302 a0001c0001t0002g0255 a0001c0007t0003g0213 a0003c0006t0001g0198	12	120	0.1000	32	c.45 others(43): Show c.4533_*4534insATTCACATATGTGAATATATGAATATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3196		chr19	TogoVar
DPPA4_chr3_109321144_109342546	109332553	G G	GGTGCACT others(25): Show GGTGCACTTCCATCCCAGGGAATTCGCATCTGA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	414	0.0024	32	c.179 others(47): Show c.179-523_179-522insTCAGATGCGAATTCCCTGGGATGGAAGTGC AC	DPPA4	ENSG00000121570.13	transcript	ENST00000335658.7	protein_coding	2/6			chr3	TogoVar
DPY19L2_chr12_63553913_63673493	63592011	G G	GAGGGGAG others(25): Show GAGGGGAGGGGAGGGGAGGGGTAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp1 HG01257.hp1 others(4): Show HG01071.hp2 HG01167.hp1 HG01257.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG02004.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0006 a0003c0004t0003g0007 a0003c0004t0003g0174 others(2): Show a0003c0004t0003g0006 a0003c0004t0003g0007 a0003c0004t0003g0174 a0003c0004t0003g0175 a0003c0004t0003g0176	7	245	0.0286	32	c.158 others(51): Show c.1580+2075_1580+2076insACCCCTCCCCTACCCCTCCCCTCCCC TCCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPY19L4_chr8_94714900_94798836	94764689	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0021 a0001c0006t0001g0021	1	136	0.0074	32	c.871 others(47): Show c.871-493_871-492insGTGTGTGTGTGTATATATATATATATATAT AT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYD_chr1_97072743_97926034	97173304	A A	ATATATAT others(25): Show ATATATATGCACACACATATACACATATATGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG02886.hp2 HG02895.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0001 a0008c0007t0001 a0001c0001t0001 a0008c0007t0001	a0001c0001t0001g0044 a0008c0007t0001g0021 a0001c0001t0001g0044 a0008c0007t0001g0021	2	40	0.0500	32	c.262 others(53): Show c.2622+19764_2622+19765insCACATATATGTGTATATGTGTGTG CATATATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97173304	A A	ATATATAT others(25): Show ATATATATGCACACATATATACACATATATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01257.hp1 HG02132.hp1 others(7): Show HG00099.hp1 HG01257.hp1 HG02132.hp1 HG02717.hp2 HG02976.hp1 HG03225.hp2 HG03471.hp2 HG03710.hp1 NA18906.hp2 NA19043.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0003c0003t0004 a0004c0004t0002 a0005c0005t0001 a0006c0006t0001	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0003g0025 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0003g0025 a0002c0002t0001g0008 a0002c0002t0002g0005 a0003c0003t0002g0007 a0003c0003t0004g0015 a0004c0004t0002g0027 a0005c0005t0001g0001 a0006c0006t0001g0036	10	48	0.2083	32	c.262 others(53): Show c.2622+19733_2622+19764dupCACATATATGTGTATATATGTGTG CATATATA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97257452	T T	TATATATA others(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0021 a0008c0007t0001g0021	1	24	0.0417	32	c.230 others(53): Show c.2300-22459_2300-22458insCTCTCTCTCTCTCTATATATATAT ATATATAT	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	18/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97376887	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	33	0.0303	32	c.197 others(51): Show c.1975-3244_1975-3243insTATATATATATATATATATATACACA CACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	15/22			chr1	TogoVar
DPYD_chr1_97072743_97926034	97376887	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0050 a0008c0007t0002g0050	1	33	0.0303	32	c.197 others(51): Show c.1975-3244_1975-3243insTATATATATATATATATATACACACA CACACA	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	15/22			chr1	TogoVar
DPYSL4_chr10_132181948_132210759	132186851	C C	CCCTATCG others(25): Show CCCTATCGGGGGCGGGCCCTATCGGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	163	0.0061	32	c.-21 others(41): Show c.-213_-212insCCTATCGGGGGCGGGCCCTATCGGGGGCGGGG	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		96		chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132186856	T T	TCGGGGGC others(25): Show TCGGGGGCGGGGCCTATCGGGGGCGGGGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01175.hp1 others(18): Show HG00735.hp2 HG01071.hp2 HG01175.hp1 HG01256.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG03688.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0059 others(7): Show a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0140 a0001c0013t0002g0010	21	401	0.0524	32	c.-20 others(41): Show c.-208_-207insCGGGGGCGGGGCCTATCGGGGGCGGGGCCTGC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		91		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(25): Show TATATATATATATATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG03471.hp2 others(1): Show HG02922.hp2 HG02970.hp1 HG03471.hp2 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0011 a0001c0002t0002 a0001c0002t0011	a0001c0002t0002g0152 a0001c0002t0011g0060 a0001c0002t0011g0061 others(1): Show a0001c0002t0002g0152 a0001c0002t0011g0060 a0001c0002t0011g0061 a0001c0002t0011g0063	4	118	0.0339	32	c.669 others(47): Show c.669+382_669+383insTATATATATATATACACACACACACACACA CA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(25): Show TATATATATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0051 a0001c0001t0012g0051	1	115	0.0087	32	c.669 others(47): Show c.669+382_669+383insTATATATATATATATACACACACACACACA CA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0047	1	19	0.0526	32	c.947 others(49): Show c.947+2227_947+2228insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	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(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	62	0.0161	32	c.132 others(49): Show c.132-2647_132-2646insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0174 a0006c0008t0001g0174	1	257	0.0039	32	c.889 others(47): Show c.889-455_889-454insAATATATATATATATATATATATATATATA TA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp2 HG01168.hp1 others(8): Show HG00280.hp1 HG01123.hp2 HG01168.hp1 HG01433.hp1 HG02300.hp2 HG02735.hp1 HG02809.hp2 HG03453.hp2 HG03490.hp2 NA18946.hp2 NA19003.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0017	a0001c0001 a0003c0004 a0004c0003 others(2): Show a0001c0001 a0003c0004 a0004c0003 a0005c0006 a0017c0021	a0001c0001t0001 a0003c0004t0001 a0004c0003t0001 others(2): Show a0001c0001t0001 a0003c0004t0001 a0004c0003t0001 a0005c0006t0001 a0017c0021t0001	a0001c0001t0001g0031 a0001c0001t0001g0217 a0001c0001t0001g0224 others(8): Show a0001c0001t0001g0031 a0001c0001t0001g0217 a0001c0001t0001g0224 a0003c0004t0001g0331 a0004c0003t0001g0014 a0004c0003t0001g0196 a0004c0003t0001g0213 a0004c0003t0001g0221 a0004c0003t0001g0272 a0005c0006t0001g0014 a0017c0021t0001g0032	11	267	0.0412	32	c.889 others(47): Show c.889-441_889-440insTATATATATATATATATATATATATATATA TA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439934	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	375	0.0027	32	c.889 others(47): Show c.889-441_889-440insTATATATATATATATATATATATATATACA TA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0294 a0003c0004t0002g0294	1	255	0.0039	32	c.889 others(47): Show c.889-441_889-440insTATATATATATATATATATATATACACACA CA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19081.hp2 NA18906.hp1 NA19081.hp2	a0003 a0021 a0003 a0021	a0003c0004 a0021c0025 a0003c0004 a0021c0025	a0003c0004t0001 a0021c0025t0002 a0003c0004t0001 a0021c0025t0002	a0003c0004t0001g0028 a0021c0025t0002g0292 a0003c0004t0001g0028 a0021c0025t0002g0292	2	256	0.0078	32	c.889 others(47): Show c.889-441_889-440insTATATATATATATATATATATATATACACA CA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp2 HG02572.hp1 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0001 a0003c0005t0003 a0003c0004t0001 a0003c0005t0003	a0003c0004t0001g0262 a0003c0005t0003g0353 a0003c0004t0001g0262 a0003c0005t0003g0353	2	256	0.0078	32	c.889 others(47): Show c.889-441_889-440insTATATATATATATATATATATATATATACA CA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00735.hp1 others(24): Show HG00280.hp2 HG00408.hp1 HG00735.hp1 HG01069.hp1 HG01109.hp1 HG01257.hp1 HG01261.hp2 HG01496.hp2 HG01517.hp1 HG01952.hp1 HG02027.hp1 HG02132.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp2 HG03239.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG04204.hp1 NA18906.hp2 NA18957.hp2 NA18974.hp1 NA19057.hp1 NA19240.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0020	a0001c0001 a0001c0007 a0003c0005 others(3): Show a0001c0001 a0001c0007 a0003c0005 a0004c0003 a0006c0008 a0020c0024	a0001c0001t0001 a0001c0007t0001 a0003c0005t0001 others(3): Show a0001c0001t0001 a0001c0007t0001 a0003c0005t0001 a0004c0003t0001 a0006c0008t0001 a0020c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0025 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0307 a0001c0007t0001g0269 a0001c0007t0001g0340 a0001c0007t0001g0341 a0001c0007t0001g0345 a0003c0005t0001g0058 a0003c0005t0001g0067 a0004c0003t0001g0200 a0006c0008t0001g0178 a0006c0008t0001g0179 a0006c0008t0001g0187 a0020c0024t0001g0197	27	281	0.0961	32	c.889 others(47): Show c.889-441_889-440insTATATATATATATATATATATATATATATA CA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRD3_chr3_114122580_114184052	114155566	A A	AAGAAAGG others(25): Show AAGAAAGGCGCCCTCTCCTGGCTGGCAAATCGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0165 a0002c0001t0001g0165	1	358	0.0028	32	c.383 others(49): Show c.383+4157_383+4188dupACGATTTGCCAGCCAGGAGAGGGCGCCT TTCT	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DROSHA_chr5_31395494_31537093	31397451	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0089 a0003c0006t0003g0089	1	295	0.0034	32	c.39 others(43): Show c.3980_*3981insATATATATATATATATATATATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3042		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01358.hp1 HG01515.hp1 others(11): Show HG00423.hp1 HG01358.hp1 HG01515.hp1 HG02165.hp2 HG02293.hp2 HG02572.hp1 HG02572.hp2 HG02698.hp2 HG03579.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18947.hp2 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0023 a0001c0024 a0001c0026 a0002c0004 a0004c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0003t0003 a0001c0023t0001 a0001c0024t0003 a0001c0026t0002 a0002c0004t0004 a0004c0009t0002	a0001c0001t0002g0138 a0001c0001t0005g0320 a0001c0001t0005g0322 others(11): Show a0001c0001t0002g0138 a0001c0001t0005g0320 a0001c0001t0005g0322 a0001c0001t0008g0094 a0001c0002t0001g0177 a0001c0002t0001g0184 a0001c0002t0001g0193 a0001c0002t0001g0209 a0001c0003t0003g0044 a0001c0023t0001g0197 a0001c0024t0003g0057 a0001c0026t0002g0070 a0002c0004t0004g0016 a0004c0009t0002g0262	14	59	0.2373	32	c.39 others(43): Show c.3979_*3980insTATATATATATATATATATATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421897	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATGCGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19007.hp2 HG00438.hp1 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0054 a0001c0003t0003g0060 a0001c0003t0003g0054 a0001c0003t0003g0060	2	260	0.0077	32	c.342 others(49): Show c.3420-521_3420-520insGCGCATATATATATATATATATATATAT ATTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421917	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02129.hp2 HG03516.hp1 others(5): Show HG00280.hp2 HG02129.hp2 HG03516.hp1 HG03540.hp1 NA18948.hp2 NA18954.hp1 NA18968.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0005 a0001c0002 a0001c0003 a0002c0005	a0001c0002t0001 a0001c0003t0003 a0002c0005t0001 a0001c0002t0001 a0001c0003t0003 a0002c0005t0001	a0001c0002t0001g0042 a0001c0002t0001g0232 a0001c0003t0003g0049 others(5): Show a0001c0002t0001g0042 a0001c0002t0001g0232 a0001c0003t0003g0049 a0001c0003t0003g0060 a0001c0003t0003g0063 a0001c0003t0003g0221 a0001c0003t0003g0240 a0002c0005t0001g0282	8	136	0.0588	32	c.342 others(49): Show c.3420-541_3420-540insACACACACACACACACACACACACACAC ACAC	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31480178	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02071.hp2 HG03239.hp1 others(2): Show HG01074.hp1 HG02071.hp2 HG03239.hp1 HG03710.hp2 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 a0001c0001 a0002c0004 a0002c0005	a0001c0001t0005 a0002c0004t0002 a0002c0004t0004 others(1): Show a0001c0001t0005 a0002c0004t0002 a0002c0004t0004 a0002c0005t0001	a0001c0001t0005g0317 a0002c0004t0002g0102 a0002c0004t0004g0025 others(2): Show a0001c0001t0005g0317 a0002c0004t0002g0102 a0002c0004t0004g0025 a0002c0005t0001g0259 a0002c0005t0001g0276	5	23	0.2174	32	c.207 others(51): Show c.2071+3375_2071+3376insTATATATATATATATATATATATATA TATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	16/35			chr5	TogoVar
DSC2_chr18_31053840_31107421	31101515	G G	GGCCCCGG others(25): Show GGCCCCGGCGCACTCCCGCCCCGGCGCACTCCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp1 HG03516.hp2 others(1): Show HG02145.hp1 HG03130.hp1 HG03516.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0021 a0001c0001t0003 a0002c0002t0021	a0001c0001t0003g0282 a0002c0002t0021g0018 a0001c0001t0003g0282 a0002c0002t0021g0018	4	357	0.0112	32	c.69+ others(45): Show c.69+356_69+387dupGGGAGTGCGCCGGGGCGGGAGTGCGCCGGGGC	DSC2	ENSG00000134755.18	transcript	ENST00000280904.11	protein_coding	1/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117687426	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG04184.hp2 HG01123.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0002c0001 a0001c0016 a0002c0001	a0001c0016t0001 a0002c0001t0001 a0001c0016t0001 a0002c0001t0001	a0001c0016t0001g0044 a0002c0001t0001g0072 a0001c0016t0001g0044 a0002c0001t0001g0072	2	16	0.1250	32	c.511 others(51): Show c.511+89364_511+89365insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117694078	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02083.hp2 HG01192.hp1 HG02083.hp2	a0001 a0002 a0001 a0002	a0001c0027 a0002c0004 a0001c0027 a0002c0004	a0001c0027t0001 a0002c0004t0002 a0001c0027t0001 a0002c0004t0002	a0001c0027t0001g0012 a0002c0004t0002g0168 a0001c0027t0001g0012 a0002c0004t0002g0168	2	129	0.0155	32	c.511 others(51): Show c.511+82712_511+82713insGTATATATATATATATATATATATAT ATATAT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116421442	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0303 a0001c0001t0023g0303	1	265	0.0038	32	c.417 others(49): Show c.417-5110_417-5109insATATATATATATATATATATATATATAT ATAT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSP_chr6_7536671_7591714	7554082	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0256 a0001c0014t0001g0256	1	69	0.0145	32	c.171 others(49): Show c.171-1623_171-1592dupACACACACACACACACACACACACACAC ACAC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSP_chr6_7536671_7591714	7554125	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18986.hp1 HG02572.hp2 NA18986.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0005 a0001c0004 a0003c0005	a0001c0004t0001 a0003c0005t0002 a0001c0004t0001 a0003c0005t0002	a0001c0004t0001g0228 a0003c0005t0002g0355 a0001c0004t0001g0228 a0003c0005t0002g0355	2	348	0.0057	32	c.171 others(49): Show c.171-1592_171-1591insACACACACACACACACACACACACACAC ACCC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DST_chr6_56452996_56959830	56654586	C C	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0001 a0017c0023t0001	a0017c0023t0001g0082 a0017c0023t0001g0082	1	43	0.0233	32	c.121 others(51): Show c.1215-3343_1215-3342insTATATATATATATATATATATATATA TATATA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	10/103			chr6	TogoVar
DTWD1_chr15_49616048_49661232	49633049	C C	CTATATCT others(25): Show CTATATCTATATATATATATATATATATCTATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0034 a0001c0001t0034g0034	1	237	0.0042	32	c.408 others(47): Show c.408+752_408+753insCTATATATATATATATATATATCTATATAT AT	DTWD1	ENSG00000104047.15	transcript	ENST00000403028.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
DTWD2_chr5_118831074_118993547	118843371	G G	GAGGAAGG others(25): Show GAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02622.hp2 others(5): Show HG01884.hp2 HG02486.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0124 others(5): Show a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0161 a0001c0001t0028g0160	8	197	0.0406	32	c.727 others(49): Show c.727-2285_727-2284insTCCTTCCTTCCTTCCTTCCTTCCTCCCT TCCT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	5/5			chr5	TogoVar
DTWD2_chr5_118831074_118993547	118945774	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp2 NA18522.hp1 HG02280.hp2 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0017 a0001c0001t0013g0209 a0001c0001t0013g0210 a0001c0001t0003g0017 a0001c0001t0013g0209 a0001c0001t0013g0210	3	49	0.0612	32	c.219 others(49): Show c.219-1157_219-1126dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	1/5			chr5	TogoVar
DTX4_chr11_59167132_59213588	59206508	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0007 a0001c0001t0054g0007	1	372	0.0027	32	c.15 others(43): Show c.1599_*1600insATATATATATATATATATATATATATATATAT	DTX4	ENSG00000110042.8	transcript	ENST00000227451.4	protein_coding	9/9	1600		chr11	TogoVar
DUOX1_chr15_45124994_45170574	45142767	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp1 others(26): Show HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00741.hp2 HG01109.hp2 HG01952.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02965.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18970.hp1 NA18973.hp1 NA18988.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp2 NA19005.hp1 NA19043.hp1 NA19064.hp2 NA19082.hp1 NA19089.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0010	a0001c0001 a0001c0017 a0002c0002 others(3): Show a0001c0001 a0001c0017 a0002c0002 a0006c0012 a0007c0016 a0010c0034	a0001c0001t0001 a0001c0001t0004 a0001c0017t0004 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0017t0004 a0002c0002t0003 a0002c0002t0005 a0006c0012t0003 a0007c0016t0003 a0010c0034t0003	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0196 others(22): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0196 a0001c0001t0001g0250 a0001c0001t0004g0033 a0001c0017t0004g0181 a0002c0002t0003g0003 a0002c0002t0003g0034 a0002c0002t0003g0042 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0074 a0002c0002t0003g0245 a0002c0002t0005g0032 a0002c0002t0005g0052 a0002c0002t0005g0070 a0002c0002t0005g0303 a0006c0012t0003g0140 a0006c0012t0003g0142 a0007c0016t0003g0299 a0010c0034t0003g0041	29	189	0.1534	32	c.182 others(49): Show c.1823-402_1823-401insAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGG	DUOX1	ENSG00000137857.18	transcript	ENST00000389037.7	protein_coding	15/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0281 a0001c0001t0008g0281	1	187	0.0053	32	c.-36 others(51): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP16_chr12_12468282_12567863	12560946	T T	TCACACAC others(25): Show TCACACACCCACACCCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	187	0.0053	32	c.-36 others(51): Show c.-366+1170_-366+1171insTGTGTGTGTGTGTGTGTGGGTGTGGG TGTGTG	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	1/6			chr12	TogoVar
DUSP26_chr8_33586330_33605023	33587567	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02818.hp1 HG02486.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0096 a0001c0001t0001g0035 a0001c0001t0001g0096	2	257	0.0078	32	c.44 others(43): Show c.4445_*4446insGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding		3762		chr8	TogoVar
DUSP26_chr8_33586330_33605023	33597882	T T	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp2 HG02155.hp2 others(1): Show HG00438.hp2 HG02056.hp2 HG02155.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0040 a0001c0001t0001g0113 a0001c0001t0002g0177 a0001c0001t0001g0040 a0001c0001t0001g0113 a0001c0001t0002g0177	4	136	0.0294	32	c.-76 others(47): Show c.-76-292_-76-291insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	1/3			chr8	TogoVar

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