Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
NPAS3_chr14_32933879_33809173	33480569	C C	CTTCCTCT others(15): Show CTTCCTCTCTCTCTCCTTCTGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02897.hp1 others(4): Show HG02630.hp2 HG02647.hp2 HG02897.hp1 HG03516.hp1 HG06807.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0011 a0001c0001t0024 others(4): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0024 a0001c0001t0027 a0001c0001t0052 a0002c0002t0028 a0002c0002t0031	a0001c0001t0006g0041 a0001c0001t0011g0016 a0001c0001t0024g0009 others(4): Show a0001c0001t0006g0041 a0001c0001t0011g0016 a0001c0001t0024g0009 a0001c0001t0027g0057 a0001c0001t0052g0054 a0002c0002t0028g0031 a0002c0002t0031g0077	7	92	0.0761	22	c.469 others(41): Show c.469-79551_469-79550insTCCTCTCTCTCTCCTTCTGGGT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544788	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp1 HG02647.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0006 a0002c0006t0017 a0001c0001t0006 a0002c0006t0017	a0001c0001t0006g0041 a0002c0006t0017g0024 a0001c0001t0006g0041 a0002c0006t0017g0024	2	92	0.0217	22	c.469 others(41): Show c.469-15331_469-15310dupATATATATATATATATATATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33563517	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	92	0.0109	22	c.558 others(39): Show c.558+3328_558+3329insCACACACACACACACACACACA	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(15): Show CACACACACACACACAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG02486.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0026 a0001c0001t0004 a0002c0004t0026	a0001c0001t0004g0059 a0002c0004t0026g0023 a0001c0001t0004g0059 a0002c0004t0026g0023	2	92	0.0217	22	c.558 others(39): Show c.558+3328_558+3329insCACACACACACACAGAGAGAGA	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(15): Show CACACACACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0079 a0001c0001t0041g0079	1	92	0.0109	22	c.558 others(39): Show c.558+3328_558+3329insCACACACAGAGAGAGAGAGAGA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33750605	T T	TTATTACT others(15): Show TTATTACTCAAGTAATAACCTGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02602.hp2 HG02630.hp1 others(9): Show HG01243.hp1 HG02602.hp2 HG02630.hp1 HG02897.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(9): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0030 a0001c0001t0042 a0001c0001t0048 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0040 a0001c0001t0007g0087 a0001c0001t0010g0055 others(9): Show a0001c0001t0002g0040 a0001c0001t0007g0087 a0001c0001t0010g0055 a0001c0001t0011g0016 a0001c0001t0013g0022 a0001c0001t0018g0026 a0001c0001t0022g0015 a0001c0001t0030g0029 a0001c0001t0042g0070 a0001c0001t0048g0045 a0002c0002t0001g0056 a0002c0002t0002g0019	12	92	0.1304	22	c.852 others(41): Show c.852+15273_852+15274insTATTACTCAAGTAATAACCTGA	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	7/11			chr14	TogoVar
NPAS3_chr14_32933879_33809173	33789583	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0028 a0002c0002t0023g0028	1	92	0.0109	22	c.115 others(41): Show c.1154-4312_1154-4291dupTTTTTTTTTTTTTTTTTTTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG04228.hp1 NA18985.hp1 HG00323.hp1 HG04228.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0201 a0001c0001t0002g0293 a0001c0001t0002g0154 a0001c0001t0002g0201 a0001c0001t0002g0293	3	342	0.0088	22	c.255 others(39): Show c.255+6649_255+6670dupTTTTTTTTTTTTTTTTTTTTTT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NPHP4_chr1_5857811_5997425	5949343	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02109.hp2 HG02258.hp1 others(2): Show HG02004.hp1 HG02109.hp2 HG02258.hp1 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0034	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0034t0006	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0003t0001g0054 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0003t0001g0054 a0001c0004t0001g0058 a0001c0034t0006g0206	5	208	0.0240	22	c.811 others(39): Show c.811-1114_811-1093dupGTGTGTGTGTGTGTGTGTGTGT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	7/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18969.hp1 NA18944.hp1 NA18969.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0187 a0001c0004t0001g0190 a0001c0004t0001g0187 a0001c0004t0001g0190	2	208	0.0096	22	c.517 others(39): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAAAAA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar
NPIPA8_chr16_18312919_18341736	18331339	T T	TTAAAAAA others(15): Show TTAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0008 a0006c0009t0008	a0006c0009t0008g0009 a0006c0009t0008g0009	1	40	0.0250	22	c.63+ others(37): Show c.63+1260_63+1261insTTTTTTTTTTTTTTTTTTTTTA	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding	3/9			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30238672	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0119 a0003c0002t0002g0119	1	145	0.0069	22	c.121 others(39): Show c.121-3115_121-3094dupTTTTTTTTTTTTTTTTTTTTTT	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	2/7			chr16	TogoVar
NPIPB15_chr16_74371306_74397115	74377800	C C	CCCCCTCC others(15): Show CCCCCTCCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03486.hp2 NA19057.hp2 HG01993.hp1 HG03486.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0005g0037 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0005g0037	3	261	0.0115	22	c.-22 others(36): Show c.-22-103_-22-82dupTCCCCCTCCCCTCCCCCTCCCC	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB15_chr16_74371306_74397115	74395932	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0108 a0005c0005t0004g0108	1	261	0.0038	22	c.38 others(33): Show c.3852_*3853insTGTGTGTGTGTGTGTGTGTGTG	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding		3818		chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22540622	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0028 a0028	a0028c0025 a0028c0025	a0028c0025t0004 a0028c0025t0004	a0028c0025t0004g0042 a0028c0025t0004g0042	1	47	0.0213	22	c.42 others(33): Show c.4237_*4238insTGTGTGTGTGTGTGTGTGTGTG	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding		4088		chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28351944	T T	TGAATGGC others(15): Show TGAATGGCAAGACAAAATGTAGA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0320 a0003c0003t0002g0320	1	361	0.0028	22	c.303 others(37): Show c.303+913_303+934dupTCTACATTTTGTCTTGCCATTC	NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	3/7			chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28646202	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0033 a0033	a0033c0029 a0033c0029	a0033c0029t0002 a0033c0029t0002	a0033c0029t0002g0277 a0033c0029t0002g0277	1	351	0.0029	22	c.121 others(39): Show c.121-1928_121-1907dupTTTTTTTTTTTTTTTTTTTTTT	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(15): Show TTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01167.hp1 HG01257.hp1 others(15): Show HG00140.hp2 HG01167.hp1 HG01257.hp1 HG01928.hp1 HG01975.hp2 HG02055.hp1 HG02071.hp1 HG02897.hp2 HG03225.hp2 HG03654.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp2 NA19062.hp2 NA19064.hp1 NA20805.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0019 a0037	a0001c0001 a0002c0002 a0002c0027 others(4): Show a0001c0001 a0002c0002 a0002c0027 a0004c0004 a0005c0005 a0019c0025 a0037c0026	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0002c0027t0002 a0004c0004t0001 a0005c0005t0002 a0019c0025t0002 a0037c0026t0002	a0001c0001t0001g0038 a0001c0001t0001g0065 a0001c0001t0004g0048 others(15): Show a0001c0001t0001g0038 a0001c0001t0001g0065 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0002c0002t0002g0001 a0002c0002t0002g0079 a0002c0002t0002g0171 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0190 a0002c0027t0002g0197 a0004c0004t0001g0200 a0004c0004t0001g0201 a0004c0004t0001g0204 a0005c0005t0002g0179 a0019c0025t0002g0169 a0037c0026t0002g0176	18	351	0.0513	22	c.38 others(33): Show c.3897_*3898insTGTGTGTGTGTGTGTGTGTGTG	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding		3784		chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28662546	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	351	0.0029	22	c.39 others(33): Show c.3916_*3917insGTGTGTGTGTGGTGTGTGTGTG	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding		3803		chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28776652	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	179	0.0056	22	c.38 others(33): Show c.3897_*3898insTGTGTGTGTGTGTGTGTGTGTG	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding		3789		chr16	TogoVar
NPLOC4_chr17_81551887_81642112	81564083	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0252 a0001c0001t0122g0252	1	344	0.0029	22	c.166 others(41): Show c.1669+1400_1669+1421dupGTGTGTGTGTGTGTGTGTGTGT	NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	16/16			chr17	TogoVar
NPLOC4_chr17_81551887_81642112	81564105	C C	CACACACA others(15): Show CACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01106.hp1 others(20): Show HG00741.hp1 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01515.hp2 HG01517.hp2 HG01952.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02129.hp2 HG02683.hp2 HG02735.hp2 HG03490.hp1 HG03710.hp2 NA18951.hp2 NA18999.hp1 NA19000.hp1 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19089.hp1 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0003 a0001c0004t0006 a0001c0004t0012 others(13): Show a0001c0004t0003 a0001c0004t0006 a0001c0004t0012 a0001c0004t0014 a0001c0004t0042 a0001c0004t0105 a0001c0004t0117 a0001c0007t0002 a0001c0007t0003 a0001c0007t0005 a0001c0007t0007 a0001c0007t0012 a0001c0007t0014 a0001c0007t0021 a0001c0007t0042 a0001c0007t0124	a0001c0004t0003g0217 a0001c0004t0003g0244 a0001c0004t0006g0223 others(20): Show a0001c0004t0003g0217 a0001c0004t0003g0244 a0001c0004t0006g0223 a0001c0004t0006g0243 a0001c0004t0006g0246 a0001c0004t0012g0214 a0001c0004t0012g0222 a0001c0004t0012g0230 a0001c0004t0014g0234 a0001c0004t0014g0235 a0001c0004t0042g0240 a0001c0004t0105g0233 a0001c0004t0117g0250 a0001c0007t0002g0205 a0001c0007t0003g0242 a0001c0007t0005g0208 a0001c0007t0007g0204 a0001c0007t0012g0239 a0001c0007t0014g0224 a0001c0007t0014g0241 a0001c0007t0021g0226 a0001c0007t0042g0237 a0001c0007t0124g0215	23	344	0.0669	22	c.166 others(41): Show c.1669+1399_1669+1400insCTGTGTGTGTGTGTGTGTGTGT	NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	16/16			chr17	TogoVar
NPLOC4_chr17_81551887_81642112	81564109	C C	CACACACA others(15): Show CACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02572.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0210 a0001c0001t0022g0211 a0001c0001t0022g0210 a0001c0001t0022g0211	2	344	0.0058	22	c.166 others(41): Show c.1669+1395_1669+1396insCTGTGTGTGTGTGTGTGTGTGT	NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	16/16			chr17	TogoVar
NPM2_chr8_22019134_22041897	22021909	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 NA18955.hp2 HG02615.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0001 a0001c0001t0001g0034	2	434	0.0046	22	c.-28 others(33): Show c.-2855_-2854insAAAAAAAAAAAAAAAAAAAAAA	NPM2	ENSG00000158806.14	transcript	ENST00000518119.6	protein_coding		2224		chr8	TogoVar
NPNT_chr4_105890471_105976671	105898328	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0188 a0002c0002t0002g0188	1	236	0.0042	22	c.172 others(37): Show c.172+358_172+379dupTCTCTCTCTCTCTCTCTCTCTC	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPNT_chr4_105890471_105976671	105942136	T T	TATATATA others(15): Show TATATATATATATATATATAGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0114 a0003c0003t0001g0114	1	236	0.0042	22	c.764 others(37): Show c.764-170_764-169insTATATATATATATATATAGACA	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPPA_chr1_11840709_11852783	11851595	A A	AGGGGGGG others(15): Show AGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	366	0.0027	22	c.-39 others(33): Show c.-3912_-3911insCCCCCCCCCCCCCCCCCCCCCC	NPPA	ENSG00000175206.11	transcript	ENST00000376480.7	protein_coding		3813		chr1	TogoVar
NPR3_chr5_32706321_32796720	32710859	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	320	0.0031	22	c.-91 others(31): Show c.-918_-917insTTTTTTTTTTTTTTTTTTTTTT	NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding		461		chr5	TogoVar
NPSR1_chr7_34653218_34854978	34663041	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01243.hp2 others(6): Show HG00639.hp2 HG01074.hp1 HG01243.hp2 HG01978.hp2 HG03490.hp1 HG03492.hp1 HG04228.hp1 NA18906.hp2 NA18989.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0005 a0004c0003 a0005c0004 a0003c0005 a0004c0003 a0005c0004	a0003c0005t0002 a0004c0003t0002 a0005c0004t0001 others(1): Show a0003c0005t0002 a0004c0003t0002 a0005c0004t0001 a0005c0004t0003	a0003c0005t0002g0189 a0003c0005t0002g0195 a0004c0003t0002g0198 others(6): Show a0003c0005t0002g0189 a0003c0005t0002g0195 a0004c0003t0002g0198 a0005c0004t0001g0201 a0005c0004t0003g0191 a0005c0004t0003g0196 a0005c0004t0003g0197 a0005c0004t0003g0199 a0005c0004t0003g0200	9	260	0.0346	22	c.147 others(39): Show c.147+4488_147+4509dupCTCTCTCTCTCTCTCTCTCTCT	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(15): Show CTCTCTCTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02258.hp1 NA19043.hp1 others(1): Show HG01074.hp2 HG02258.hp1 NA19043.hp1 NA20300.hp1	a0003 a0005 a0003 a0005	a0003c0005 a0005c0004 a0003c0005 a0005c0004	a0003c0005t0002 a0005c0004t0003 a0005c0004t0006 a0003c0005t0002 a0005c0004t0003 a0005c0004t0006	a0003c0005t0002g0182 a0005c0004t0003g0183 a0005c0004t0003g0184 others(1): Show a0003c0005t0002g0182 a0005c0004t0003g0183 a0005c0004t0003g0184 a0005c0004t0006g0185	4	260	0.0154	22	c.147 others(39): Show c.147+4509_147+4510insCTCTCTCTCTGTGTGTGTGTGT	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(15): Show CTCTCTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp1 HG03041.hp1 others(2): Show HG01255.hp2 HG02559.hp1 HG03041.hp1 HG03453.hp2 NA18906.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0001 a0004c0003 a0008c0014 a0002c0001 a0004c0003 a0008c0014	a0002c0001t0003 a0004c0003t0002 a0008c0014t0002 a0002c0001t0003 a0004c0003t0002 a0008c0014t0002	a0002c0001t0003g0245 a0004c0003t0002g0179 a0004c0003t0002g0243 others(2): Show a0002c0001t0003g0245 a0004c0003t0002g0179 a0004c0003t0002g0243 a0008c0014t0002g0244 a0008c0014t0002g0246	5	260	0.0192	22	c.147 others(39): Show c.147+4509_147+4510insCTCTCTCTGTGTGTGTGTGTGT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34761440	C C	CAGCTGGA others(15): Show CAGCTGGACAGCAAGGTCTTTCT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0235 a0002c0001t0007g0235	1	260	0.0039	22	c.281 others(41): Show c.281-17021_281-17000dupAGCTGGACAGCAAGGTCTTTCT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34823399	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19054.hp2 HG03195.hp1 NA19054.hp2	a0002 a0003 a0002 a0003	a0002c0019 a0003c0010 a0002c0019 a0003c0010	a0002c0019t0003 a0003c0010t0004 a0002c0019t0003 a0003c0010t0004	a0002c0019t0003g0121 a0003c0010t0004g0048 a0002c0019t0003g0121 a0003c0010t0004g0048	2	260	0.0077	22	c.479 others(39): Show c.479-3985_479-3984insAAAAAAAAAAAAAAAAAAAAAA	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPTN_chr15_73555014_73638389	73580400	T T	TTATATAT others(15): Show TTATATATATAATATATATATAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	342	0.0029	22	c.707 others(39): Show c.707-6627_707-6606dupTTATATATATATTATATATATA	NPTN	ENSG00000156642.17	transcript	ENST00000345330.9	protein_coding	4/8			chr15	TogoVar
NPTN_chr15_73555014_73638389	73636112	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	342	0.0029	22	c.-28 others(33): Show c.-2898_-2897insAAAAAAAAAAAAAAAAAAAAAA	NPTN	ENSG00000156642.17	transcript	ENST00000345330.9	protein_coding		2724		chr15	TogoVar
NPY4R2_chr10_47913662_47928524	47918383	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	276	0.0036	22	c.-77 others(31): Show c.-775_-774insAAAGAAAGAAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		278		chr10	TogoVar
NPY4R2_chr10_47913662_47928524	47918383	G G	GAGAGAAA others(15): Show GAGAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	276	0.0036	22	c.-77 others(31): Show c.-775_-774insAGAGAAAGAAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		278		chr10	TogoVar
NPY4R2_chr10_47913662_47928524	47918383	G G	GAGAGAGA others(15): Show GAGAGAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0008 a0001c0002t0009g0008	1	276	0.0036	22	c.-77 others(31): Show c.-775_-774insAGAGAGAGAAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		278		chr10	TogoVar
NQO2_chr6_2994894_3024755	3016430	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03471.hp1 HG02615.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0038 a0001c0009t0002g0038	2	446	0.0045	22	c.418 others(37): Show c.418-434_418-433insAAAAAAAAAAAAAAAAAAAAAA	NQO2	ENSG00000124588.22	transcript	ENST00000380455.11	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NR0B1_chrX_30299206_30314390	30301022	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG04228.hp1 NA20752.hp1 HG02922.hp1 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0021	3	322	0.0093	22	c.35 others(33): Show c.3556_*3557insTTCTCTCTCTCTCTCTCTCTCT	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		3183		chrX	TogoVar
NR0B2_chr1_26906489_26918975	26915058	C C	CATATATA others(15): Show CATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG03579.hp1 HG01257.hp1 HG01258.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	3	316	0.0095	22	c.-11 others(33): Show c.-1119_-1118insATATATATATATATATATATAT	NR0B2	ENSG00000131910.5	transcript	ENST00000254227.4	protein_coding		1084		chr1	TogoVar
NR1H3_chr11_47252996_47274033	47253129	T T	TTGGTAGC others(15): Show TTGGTAGCGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	368	0.0027	22	c.-50 others(33): Show c.-5038_-5037insTGGTAGCGTGTGTGTGTGTGTG	NR1H3	ENSG00000025434.19	transcript	ENST00000441012.7	protein_coding		4866		chr11	TogoVar
NR1H3_chr11_47252996_47274033	47253134	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18968.hp1 NA18991.hp2 others(1): Show NA18943.hp1 NA18968.hp1 NA18991.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0046 a0001c0002t0001g0011 a0001c0002t0001g0065 a0001c0001t0001g0046 a0001c0002t0001g0011 a0001c0002t0001g0065	4	368	0.0109	22	c.-50 others(33): Show c.-5033_-5032insGTGTGTGTGTGTGTGTGTGTGT	NR1H3	ENSG00000025434.19	transcript	ENST00000441012.7	protein_coding		4861		chr11	TogoVar
NR1H4_chr12_100468866_100569414	100510607	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03579.hp2 HG01109.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0020 a0001c0001t0001g0082	2	308	0.0065	22	c.80- others(35): Show c.80-164_80-143dupTATATATATATATATATATATA	NR1H4	ENSG00000012504.15	transcript	ENST00000392986.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NR2C1_chr12_95015229_95078618	95019484	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01256.hp2 HG01358.hp1 others(2): Show HG00323.hp1 HG01256.hp2 HG01358.hp1 HG02040.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0013g0032	5	430	0.0116	22	c.27 others(33): Show c.2744_*2745insAAAAAAAAAAAAAAAAAAAAAA	NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding		744		chr12	TogoVar
NR2C2_chr3_14942583_15054273	14995668	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03654.hp2 HG03688.hp2 HG01069.hp2 HG03654.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0091 a0001c0001t0003g0257 a0001c0001t0003g0258	3	308	0.0097	22	c.-39 others(39): Show c.-39-8205_-39-8184dupGTGTGTGTGTGTGTGTGTGTGT	NR2C2	ENSG00000177463.16	transcript	ENST00000425241.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NR3C1_chr5_143272934_143408686	143274335	C C	CATGATTT others(15): Show CATGATTTTGAGGTTCGTCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02074.hp2 HG02135.hp1 others(4): Show HG02027.hp1 HG02074.hp2 HG02135.hp1 NA18982.hp2 NA19001.hp2 NA19057.hp2 NA19070.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0008 a0001c0005t0009g0249 a0001c0005t0009g0250 others(3): Show a0001c0005t0009g0008 a0001c0005t0009g0249 a0001c0005t0009g0250 a0001c0005t0009g0251 a0001c0005t0009g0252 a0001c0005t0009g0257	7	266	0.0263	22	c.75 others(33): Show c.7553_*7554insAATGGACGAACCTCAAAATCAT	NR3C1	ENSG00000113580.15	transcript	ENST00000394464.7	protein_coding		3598		chr5	TogoVar
NR3C1_chr5_143272934_143408686	143274335	C C	CATGGTTT others(15): Show CATGGTTTTGAGGTTCGTCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03453.hp1 HG01884.hp1 HG03453.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0011 a0002c0007t0011	a0002c0007t0011g0254 a0002c0007t0011g0255 a0002c0007t0011g0254 a0002c0007t0011g0255	2	266	0.0075	22	c.75 others(33): Show c.7553_*7554insAATGGACGAACCTCAAAACCAT	NR3C1	ENSG00000113580.15	transcript	ENST00000394464.7	protein_coding		3598		chr5	TogoVar
NR3C2_chr4_148073764_148447414	148134643	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0038 a0002c0002t0005g0038	1	170	0.0059	22	c.251 others(43): Show c.2511-14377_2511-14356dupAAAAAAAAAAAAAAAAAAAAAA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	6/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148363504	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0124 a0001c0001t0011g0124	1	170	0.0059	22	c.175 others(43): Show c.1757+71599_1757+71600insAAAAAAAAAAAAAAAAAAAAAA	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar

Search by Variant

Search

Search Results