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
NOX1_chrX_100838324_100879359	100853284	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG04184.hp1 HG01928.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0184 a0001c0001t0001g0104 a0001c0001t0001g0184	2	296	0.0068	32	c.805 others(49): Show c.805-1960_805-1959insGAAAGAGAGAGAAAGAAAGAAAGAAAGA AAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX1_chrX_100838324_100879359	100853332	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02717.hp1 others(4): Show HG01891.hp1 HG02055.hp1 HG02717.hp1 HG02897.hp1 HG02976.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0002 a0001c0001t0001 a0001c0001t0002 a0001c0006t0002	a0001c0001t0001g0067 a0001c0001t0002g0244 a0001c0001t0002g0256 others(4): Show a0001c0001t0001g0067 a0001c0001t0002g0244 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0006t0002g0257	7	112	0.0625	32	c.805 others(49): Show c.805-2039_805-2008dupAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NOX3_chr6_155390368_155460839	155445981	C C	CTATATAT others(25): Show CTATATATATATAATATATATATGCTATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0174 a0001c0006t0001g0174	1	110	0.0091	32	c.341 others(49): Show c.341-2564_341-2563insTATATATAGCATATATATATTATATATA TATA	NOX3	ENSG00000074771.4	transcript	ENST00000159060.3	protein_coding	4/13			chr6	TogoVar
NOX4_chr11_89319353_89496375	89455744	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG01081.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0060 a0001c0001t0016 a0001c0001t0060	a0001c0001t0016g0140 a0001c0001t0060g0058 a0001c0001t0016g0140 a0001c0001t0060g0058	2	277	0.0072	32	c.154 others(49): Show c.154-3850_154-3849insCATATATATATATATATATATATATATA TATA	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NOX5_chr15_69009695_69067762	69045536	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00621.hp2 others(50): Show HG00423.hp1 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01943.hp1 HG02015.hp1 HG02071.hp2 HG02083.hp1 HG02148.hp1 HG02486.hp2 HG02602.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03225.hp2 HG03490.hp2 HG03540.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18960.hp1 NA18963.hp1 NA18985.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19011.hp1 NA19043.hp2 NA19055.hp1 NA19065.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19090.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0014	a0001c0001 a0002c0002 a0003c0004 others(4): Show a0001c0001 a0002c0002 a0003c0004 a0003c0013 a0004c0005 a0007c0014 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 a0001c0001t0034 a0002c0002t0001 a0002c0002t0007 a0003c0004t0003 a0003c0004t0004 a0003c0013t0003 a0004c0005t0001 a0007c0014t0002 a0014c0021t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0144 others(36): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0144 a0001c0001t0001g0221 a0001c0001t0001g0270 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0143 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0227 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0033g0252 a0001c0001t0034g0040 a0002c0002t0001g0186 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0007g0089 a0003c0004t0003g0003 a0003c0004t0003g0055 a0003c0004t0003g0076 a0003c0004t0003g0116 a0003c0004t0003g0117 a0003c0004t0003g0118 a0003c0004t0003g0127 a0003c0004t0003g0134 a0003c0004t0004g0091 a0003c0004t0004g0112 a0003c0013t0003g0003 a0004c0005t0001g0044 a0004c0005t0001g0245 a0007c0014t0002g0040 a0014c0021t0001g0264	53	136	0.3897	32	c.164 others(51): Show c.1648-1283_1648-1252dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
NOXRED1_chr14_77389021_77428523	77408892	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0031	1	18	0.0556	32	c.350 others(49): Show c.350-1248_350-1247insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	2/5			chr14	TogoVar
NPAS3_chr14_32933879_33809173	32941309	C C	CTCCCTCC others(25): Show CTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	16	0.0625	32	c.50+ others(47): Show c.50+1946_50+1947insCTCCCTCCCTCCTTCCTTCCTTCCTTCCTT CC	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	32975301	C C	CCTCCCTT others(25): Show CCTCCCTTCCTCCGTCACTCCCTGCCTCCGTCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0026	1	12	0.0833	32	c.50+ others(49): Show c.50+35941_50+35942insTCCTCCGTCACTCCCTGCCTCCGTCACT CCCT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	32975301	C C	CCTCCCTT others(25): Show CCTCCCTTCCTCCGTCACTCCCTTCCTCCGTCA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0009 a0001c0001t0024g0009	1	12	0.0833	32	c.50+ others(49): Show c.50+35941_50+35942insTCCTCCGTCACTCCCTTCCTCCGTCACT CCCT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(25): Show TATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0035 a0001c0001t0029g0035	1	21	0.0476	32	c.386 others(51): Show c.386-58658_386-58657insTATATATATATATATATACACACACA CACACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0080 a0001c0001t0008g0080	1	21	0.0476	32	c.386 others(51): Show c.386-58658_386-58657insTATATATATATATATATATATACACA CACACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	21	0.0476	32	c.386 others(51): Show c.386-58658_386-58657insTATATATATATATATATATATATATA TACACA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33563537	C C	CACACACA others(25): Show CACACACACACACACACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02258.hp2 HG02818.hp2 others(2): Show HG01261.hp1 HG02258.hp2 HG02818.hp2 HG02922.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0057	a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0002g0038 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0002g0038 a0001c0001t0005g0034 a0001c0001t0057g0050	5	50	0.1000	32	c.558 others(49): Show c.558+3328_558+3329insCACACACACACACACACACACACACAGA GAGA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33563537	C C	CACACACA others(25): Show CACACACACACACACACACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp1 HG02630.hp2 others(4): Show HG01496.hp2 HG02630.hp1 HG02630.hp2 HG02897.hp1 HG03209.hp1 HG03516.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0019 a0001c0001t0024 a0001c0001t0030 others(4): Show a0001c0001t0019 a0001c0001t0024 a0001c0001t0030 a0001c0001t0040 a0001c0001t0051 a0001c0001t0055 a0002c0002t0033	a0001c0001t0019g0013 a0001c0001t0024g0009 a0001c0001t0030g0078 others(4): Show a0001c0001t0019g0013 a0001c0001t0024g0009 a0001c0001t0030g0078 a0001c0001t0040g0070 a0001c0001t0051g0054 a0001c0001t0055g0047 a0002c0002t0033g0077	7	52	0.1346	32	c.558 others(49): Show c.558+3328_558+3329insCACACACACACACACACACACACAGAGA GAGA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33563537	C C	CACACACA others(25): Show CACACACACACACACACACACACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0046 a0002c0005t0046	a0002c0005t0046g0051 a0002c0005t0046g0051	1	46	0.0217	32	c.558 others(49): Show c.558+3328_558+3329insCACACACACACACACACACACAGAGAGA GAGA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG00099.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0207 a0001c0001t0006g0208	2	117	0.0171	32	c.255 others(49): Show c.255+6670_255+6671insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NPIPB4_chr16_21829582_21862756	21850260	A A	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0143 a0002c0001t0001g0143	1	168	0.0060	32	c.121 others(49): Show c.121-2720_121-2719insATTTATTTATTTATTTATTTATTTATTT ATTT	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	2/7			chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28641006	G G	GTGCTCAG others(25): Show GTGCTCAGATTAGGGCTGGAGGTTGTAAACTAT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	350	0.0029	32	c.120 others(49): Show c.120+2532_120+2563dupAGATTAGGGCTGGAGGTTGTAAACTATT GCTC	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28662527	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0152 a0010c0013t0001g0152	1	36	0.0278	32	c.38 others(43): Show c.3897_*3898insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding		3784		chr16	TogoVar
NPPB_chr1_11852464_11863945	11860155	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02738.hp2 HG02293.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	345	0.0058	32	c.-13 others(43): Show c.-1323_-1322insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	NPPB	ENSG00000120937.9	transcript	ENST00000376468.4	protein_coding		1211		chr1	TogoVar
NPR1_chr1_153673688_153698992	153690141	T T	TGTCTCTC others(25): Show TGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	179	0.0056	32	c.293 others(49): Show c.2933-143_2933-142insGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCA	NPR1	ENSG00000169418.10	transcript	ENST00000368680.4	protein_coding	19/21			chr1	TogoVar
NPRL3_chr16_80386_143673	138304	A A	AGAGGAGG others(25): Show AGAGGAGGACGGAGCCGGAGGCGGAGGGGGCCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	214	0.0047	32	c.-67 others(41): Show c.-67-2_-38dupAGGCCCCCTCCGCCTCCGGCTCCGTCCTCCTC	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	2/14	38		chr16	TogoVar
NPRL3_chr16_80386_143673	138390	C C	CAGGGGGC others(25): Show CAGGGGGCCTGAGGAGGGCAGGGGTGGAGGCGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp2 HG03579.hp1 others(1): Show HG02451.hp2 HG02809.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0035 a0001c0001t0002g0036 others(1): Show a0001c0001t0001g0037 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038	4	322	0.0124	32	c.-67 others(45): Show c.-67-88_-67-57dupCCGCCTCCACCCCTGCCCTCCTCAGGCCCCCT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	1/13			chr16	TogoVar
NPRL3_chr16_80386_143673	138448	G G	GAGGCGGA others(25): Show GAGGCGGAGGGGGCCTGAGGAGGGCAGGGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp2 HG01884.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0170 a0001c0001t0001g0172	2	348	0.0057	32	c.-67 others(47): Show c.-67-115_-67-114insTCACCCCTGCCCTCCTCAGGCCCCCTCCGC CT	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	1/13			chr16	TogoVar
NPSR1_chr7_34653218_34854978	34663067	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02258.hp2 HG02280.hp2 others(6): Show HG00741.hp1 HG02258.hp2 HG02280.hp2 HG02622.hp1 HG02922.hp1 HG03139.hp1 HG03453.hp1 NA18959.hp1 NA19043.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0005 a0003c0007 others(2): Show a0001c0002 a0003c0005 a0003c0007 a0003c0010 a0005c0004	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0003c0005t0002 a0003c0007t0002 a0003c0010t0002 a0005c0004t0003	a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0003g0253 others(6): Show a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0003g0253 a0001c0002t0005g0133 a0003c0005t0002g0134 a0003c0005t0002g0135 a0003c0007t0002g0138 a0003c0010t0002g0139 a0005c0004t0003g0254	9	174	0.0517	32	c.147 others(49): Show c.147+4509_147+4510insCTCTCTCTCTGTGTGTGTGTGTGTGTGT GTGT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34663067	C C	CTCTCTCT others(25): Show CTCTCTCTCTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03098.hp1 HG03225.hp2 others(1): Show HG01884.hp2 HG03098.hp1 HG03225.hp2 HG03516.hp2	a0001 a0010 a0013 a0001 a0010 a0013	a0001c0002 a0010c0028 a0013c0015 a0001c0002 a0010c0028 a0013c0015	a0001c0002t0003 a0010c0028t0002 a0013c0015t0002 a0001c0002t0003 a0010c0028t0002 a0013c0015t0002	a0001c0002t0003g0255 a0010c0028t0002g0143 a0013c0015t0002g0168 others(1): Show a0001c0002t0003g0255 a0010c0028t0002g0143 a0013c0015t0002g0168 a0013c0015t0002g0169	4	169	0.0237	32	c.147 others(49): Show c.147+4509_147+4510insCTCTCTCTGTGTGTGTGTGTGTGTGTGT GTGT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPS_chr10_127544309_127558540	127557698	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	332	0.0030	32	c.50 others(43): Show c.5059_*5060insTATATATATATATATATATATATATATATATA	NPS	ENSG00000214285.3	transcript	ENST00000398023.3	protein_coding		4159		chr10	TogoVar
NPY4R2_chr10_47913662_47928524	47918383	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 NA19063.hp2 HG03098.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0001 a0001c0002t0002 a0001c0005t0001	a0001c0002t0002g0002 a0001c0005t0001g0005 a0001c0002t0002g0002 a0001c0005t0001g0005	2	88	0.0227	32	c.-77 others(41): Show c.-775_-774insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		278		chr10	TogoVar
NQO1_chr16_69704401_69731560	69713888	G G	GTTTTTTT others(25): Show GTTTTTTTTGTTTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01081.hp2 others(37): Show HG00099.hp1 HG00323.hp1 HG01081.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01928.hp1 HG02040.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp2 HG03490.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 NA18747.hp2 NA18942.hp2 NA18946.hp1 NA18951.hp1 NA18956.hp2 NA18961.hp1 NA18965.hp1 NA18966.hp2 NA18973.hp1 NA18981.hp1 NA18983.hp1 NA18997.hp1 NA19004.hp2 NA19056.hp1 NA19059.hp2 NA19075.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0017 others(20): Show a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0118 a0002c0002t0001g0123 a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143	40	341	0.1173	32	c.418 others(47): Show c.418-760_418-759insAAAAAAAACAAAAAAAAAAAAAACAAAAAA AA	NQO1	ENSG00000181019.13	transcript	ENST00000320623.10	protein_coding	4/5			chr16	TogoVar
NQO1_chr16_69704401_69731560	69713888	G G	GTTTTTTT others(25): Show GTTTTTTTTGTTTTTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	302	0.0033	32	c.418 others(47): Show c.418-760_418-759insAAAAAAACAAAAAAAAAAAAAAACAAAAAA AA	NQO1	ENSG00000181019.13	transcript	ENST00000320623.10	protein_coding	4/5			chr16	TogoVar
NR0B1_chrX_30299206_30314390	30301282	A A	AGAAGGGA others(25): Show AGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA18947.hp1 NA18971.hp1 others(2): Show HG02071.hp1 NA18947.hp1 NA18971.hp1 NA18992.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0026 a0001c0002t0001g0053 a0001c0002t0001g0008 a0001c0002t0001g0026 a0001c0002t0001g0053	5	316	0.0158	32	c.32 others(43): Show c.3296_*3297insCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTC	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2923		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30301284	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	316	0.0032	32	c.32 others(43): Show c.3294_*3295insCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCT	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2921		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30301288	G G	GAGGGAGG others(25): Show GAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	317	0.0032	32	c.32 others(43): Show c.3290_*3291insTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2917		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30301316	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	266	0.0038	32	c.32 others(43): Show c.3262_*3263insCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2889		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30301352	G G	GAGGGAGG others(25): Show GAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03486.hp2 HG02647.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	286	0.0070	32	c.32 others(43): Show c.3226_*3227insTCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCT	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2853		chrX	TogoVar
NR2C1_chr12_95015229_95078618	95043689	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	290	0.0034	32	c.113 others(51): Show c.1132-3093_1132-3092insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding	9/13			chr12	TogoVar
NR2C1_chr12_95015229_95078618	95069762	C C	CCATCCAT others(25): Show CCATCCATCCATGCATCTATGCATCCATGCATG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0361 a0001c0001t0016g0361	1	428	0.0023	32	c.-7- others(47): Show c.-7-2403_-7-2372dupCATGCATGGATGCATAGATGCATGGATGGA TG	NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding	1/13			chr12	TogoVar
NR3C2_chr4_148073764_148447414	148363504	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18964.hp1 HG02074.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0002c0002t0002 a0001c0001t0023 a0002c0002t0002	a0001c0001t0023g0168 a0002c0002t0002g0035 a0001c0001t0023g0168 a0002c0002t0002g0035	2	107	0.0187	32	c.175 others(53): Show c.1757+71599_1757+71600insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR5A2_chr1_200022710_200182415	200074736	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	68	0.0147	32	c.111 others(53): Show c.1110+25938_1110+25939insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NR5A2_chr1_200022710_200182415	200108081	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	20	0.0500	32	c.111 others(51): Show c.1111-3118_1111-3087dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
NR6A1_chr9_124512275_124776311	124611774	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02723.hp1 others(4): Show HG02258.hp2 HG02615.hp1 HG02723.hp1 HG02818.hp2 HG02970.hp2 NA18906.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0001t0030 a0001c0001t0046	a0001c0001t0001g0064 a0001c0001t0007g0090 a0001c0001t0008g0086 others(4): Show a0001c0001t0001g0064 a0001c0001t0007g0090 a0001c0001t0008g0086 a0001c0001t0019g0074 a0001c0001t0019g0091 a0001c0001t0030g0004 a0001c0001t0046g0008	7	101	0.0693	32	c.143 others(51): Show c.143-57205_143-57204insATTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	NR6A1	ENSG00000148200.17	transcript	ENST00000487099.7	protein_coding	2/9			chr9	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(25): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp2 NA18950.hp1 NA18950.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0009c0028 a0001c0003 a0009c0028	a0001c0003t0004 a0009c0028t0001 a0001c0003t0004 a0009c0028t0001	a0001c0003t0004g0206 a0009c0028t0001g0010 a0001c0003t0004g0206 a0009c0028t0001g0010	2	36	0.0556	32	c.-10 others(53): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	76	0.0132	32	c.64 others(43): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 NA18981.hp1 NA19012.hp1 others(1): Show HG03209.hp2 NA18981.hp1 NA19012.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0199 a0001c0001t0002g0042 a0001c0001t0002g0132 others(1): Show a0001c0001t0001g0199 a0001c0001t0002g0042 a0001c0001t0002g0132 a0001c0003t0001g0006	4	79	0.0506	32	c.64 others(43): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02602.hp2 HG02886.hp1 others(1): Show HG00558.hp2 HG02602.hp2 HG02886.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0143 a0001c0001t0001g0209 a0001c0001t0002g0027 others(1): Show a0001c0001t0001g0143 a0001c0001t0001g0209 a0001c0001t0002g0027 a0001c0002t0001g0340	4	79	0.0506	32	c.64 others(43): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG02615.hp1 NA18946.hp1 HG01258.hp1 HG02615.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0002g0072 a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0002g0072	3	78	0.0385	32	c.64 others(43): Show c.6499_*6500insAAAAAAAAAAAAAAAAATATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18980.hp2 NA18942.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0212 a0001c0001t0002g0055 a0001c0001t0001g0212 a0001c0001t0002g0055	2	77	0.0260	32	c.64 others(43): Show c.6499_*6500insAAAAAAAAAAAAAAATATATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0306 a0001c0002t0004g0306	1	76	0.0132	32	c.64 others(43): Show c.6499_*6500insAAAAAAATATATATATATATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRG1_chr8_32543311_32779046	32634099	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp2 NA18979.hp1 NA18979.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0110 a0003c0003t0001 a0002c0002t0110 a0003c0003t0001	a0002c0002t0110g0187 a0003c0003t0001g0022 a0002c0002t0110g0187 a0003c0003t0001g0022	2	110	0.0182	32	c.502 others(51): Show c.502+17233_502+17234insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG1_chr8_32543311_32779046	32743573	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0077 a0003c0003t0077	a0003c0003t0077g0074 a0003c0003t0077g0074	1	5	0.2000	32	c.700 others(49): Show c.700+1521_700+1522insTATATATATATATATATATATATATATA TATA	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr8	TogoVar

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