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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NPEPPS_chr17_47526108_47628276	47529741	A A	ATATATAT others(12): Show ATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	340	0.0029	19	c.-15 others(30): Show c.-1560_-1559insTATATATATATATATATAT		NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding					1366		chr17	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG04204.hp1 HG01361.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0163 a0001c0001t0002g0164	2	117	0.0171	19	c.255 others(36): Show c.255+6652_255+6670dupTTTTTTTTTTTTTTTTTTT		NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
NPFFR1_chr10_70242329_70289004	70272211	G G	GAAAGAAA others(12): Show GAAAGAAAGAGAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	100	0.0100	19	c.8-5 others(32): Show c.8-5821_8-5820insTTTCTTTCTCTCTTTCTTT		NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3						chr10	TogoVar
NPFFR2_chr4_72027000_72153305	72070561	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19012.hp2 NA18946.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	112	0.0179	19	c.-8+ others(36): Show c.-8+38361_-8+38362insTGTGTGTGTGTGTGTGTGT		NPFFR2	ENSG00000056291.19	transcript	ENST00000308744.12	protein_coding	1/3						chr4	TogoVar
NPHS2_chr1_179545539_179580948	179579882	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	107	0.0093	19	c.-40 others(30): Show c.-4019_-4018insTTTTTTTTTTTTTTTTTTT		NPHS2	ENSG00000116218.13	transcript	ENST00000367615.9	protein_coding					3935		chr1	TogoVar
NPHS2_chr1_179545539_179580948	179580927	A A	AGGGTATC others(12): Show AGGGTATCTGTATAGGGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0121 a0001c0001t0007g0121	1	422	0.0024	19	c.-50 others(30): Show c.-5064_-5063insAAGCCCTATACAGATACCC		NPHS2	ENSG00000116218.13	transcript	ENST00000367615.9	protein_coding					4980		chr1	TogoVar
NPIPA1_chr16_14932443_14957056	14935288	A A	ACTGGGGG others(12): Show ACTGGGGGTCCTGGGCTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	252	0.0040	19	c.-21 others(30): Show c.-2155_-2154insCTGGGGGTCCTGGGCTGGG		NPIPA1	ENSG00000183426.17	transcript	ENST00000328085.10	protein_coding					2154		chr16	TogoVar
NPIPA5_chr16_15358628_15383294	15370450	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp2 HG01928.hp1 others(7): Show HG01123.hp2 HG01346.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp2 HG02300.hp2 HG02738.hp1 NA18945.hp1 NA18957.hp2 NA18968.hp2	a0003 a0003	a0003c0003 a0003c0006 a0003c0003 a0003c0006	a0003c0003t0001 a0003c0006t0001 a0003c0003t0001 a0003c0006t0001	a0003c0003t0001g0054 a0003c0003t0001g0210 a0003c0003t0001g0214 others(7): Show a0003c0003t0001g0054 a0003c0003t0001g0210 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0219 a0003c0003t0001g0222 a0003c0003t0001g0227 a0003c0006t0001g0188 a0003c0006t0001g0190	10	382	0.0262	19	c.193 others(34): Show c.193-332_193-331insGTGTGTGTGTGTGTGTGTG		NPIPA5	ENSG00000183793.14	transcript	ENST00000360151.9	protein_coding	2/7						chr16	TogoVar
NPIPA7_chr16_16374140_16398972	16388049	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 NA19077.hp1 others(1): Show HG00423.hp2 HG00642.hp1 NA19077.hp1 NA19091.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0040 a0003c0003t0001g0030 a0003c0003t0001g0031 others(1): Show a0002c0002t0001g0040 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0036	4	56	0.0714	19	c.437 others(34): Show c.437+244_437+245insTTTTTTTTTTTTTTTTTTT		NPIPA7	ENSG00000214967.6	transcript	ENST00000530217.3	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPA8_chr16_18312919_18341736	18341172	G G	GATAAGGG others(12): Show GATAAGGGAGGGGAAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	40	0.0250	19	c.-48 others(30): Show c.-4866_-4865insTCTCCTTCCCCTCCCTTAT		NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding					4437		chr16	TogoVar
NPIPB12_chr16_29478534_29511408	29485113	A A	AGCGGCCC others(12): Show AGCGGCCCCCGCAGACGCTC	frameshift_variant frameshift_variant	HIGH	HG01981.hp1 HG02004.hp2 HG01981.hp1 HG02004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0014 a0001c0004t0002g0015 a0001c0004t0002g0014 a0001c0004t0002g0015	2	16	0.1250	19	c.136 others(28): Show c.1362_1363insGAGCGTCTGCGGGGGCCGC	p.Phe others(5): Show p.Phe455fs	NPIPB12	ENSG00000169203.18	transcript	ENST00000550665.6	protein_coding	8/8	2025/3605	1362/2787	454/928			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224705	A A	AGCGGCCC others(12): Show AGCGGCCCCCGCAGACGCTC	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00544.hp1 HG00639.hp1 others(7): Show HG00099.hp2 HG00544.hp1 HG00639.hp1 HG00741.hp2 HG01255.hp1 HG01981.hp2 HG02683.hp2 HG02818.hp1 HG03195.hp1 NA19067.hp2	a0006 a0010 a0018 others(3): Show a0006 a0010 a0018 a0020 a0030 a0034	a0006c0010 a0006c0057 a0010c0038 others(5): Show a0006c0010 a0006c0057 a0010c0038 a0010c0039 a0018c0028 a0020c0029 a0030c0019 a0034c0052	a0006c0010t0002 a0006c0057t0003 a0010c0038t0001 others(5): Show a0006c0010t0002 a0006c0057t0003 a0010c0038t0001 a0010c0039t0023 a0018c0028t0002 a0020c0029t0002 a0030c0019t0001 a0034c0052t0001	a0006c0010t0002g0126 a0006c0010t0002g0127 a0006c0010t0002g0129 others(7): Show a0006c0010t0002g0126 a0006c0010t0002g0127 a0006c0010t0002g0129 a0006c0057t0003g0114 a0010c0038t0001g0073 a0010c0039t0023g0144 a0018c0028t0002g0125 a0020c0029t0002g0124 a0030c0019t0001g0037 a0034c0052t0001g0034	10	114	0.0877	19	c.174 others(28): Show c.1740_1741insGAGCGTCTGCGGGGGCCGC	p.Phe others(5): Show p.Phe581fs	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4483/6292	1740/3417	580/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30224706	G G	GCGGAATC others(12): Show GCGGAATCCGCAGACGCTCA	frameshift_variant frameshift_variant	HIGH	HG02683.hp1 HG02683.hp1	a0029 a0029	a0029c0046 a0029c0046	a0029c0046t0002 a0029c0046t0002	a0029c0046t0002g0117 a0029c0046t0002g0117	1	144	0.0069	19	c.173 others(28): Show c.1739_1740insTGAGCGTCTGCGGATTCCG	p.Phe others(5): Show p.Phe581fs	NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	8/8	4482/6292	1739/3417	580/1138			chr16	TogoVar
NPIPB13_chr16_30217897_30253479	30238672	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	16	0.0625	19	c.121 others(36): Show c.121-3112_121-3094dupTTTTTTTTTTTTTTTTTTT		NPIPB13	ENSG00000198064.15	transcript	ENST00000697092.1	protein_coding	2/7						chr16	TogoVar
NPIPB15_chr16_74371306_74397115	74377811	T T	TCCCCCTC others(12): Show TCCCCCTCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	245	0.0041	19	c.-22 others(34): Show c.-22-137_-22-136insCTCCCCCTCCCCCTCCCCC		NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21836520	A A	AGCGGCCC others(12): Show AGCGGCCCCCGCAGACGCTC	frameshift_variant frameshift_variant	HIGH	HG02015.hp1 HG02258.hp2 HG03710.hp1 others(2): Show HG02015.hp1 HG02258.hp2 HG03710.hp1 HG03927.hp2 NA18957.hp1	a0037 a0040 a0049 others(2): Show a0037 a0040 a0049 a0051 a0054	a0037c0043 a0040c0034 a0049c0066 others(2): Show a0037c0043 a0040c0034 a0049c0066 a0051c0045 a0054c0057	a0037c0043t0001 a0040c0034t0001 a0049c0066t0001 others(2): Show a0037c0043t0001 a0040c0034t0001 a0049c0066t0001 a0051c0045t0001 a0054c0057t0001	a0037c0043t0001g0174 a0040c0034t0001g0181 a0049c0066t0001g0089 others(2): Show a0037c0043t0001g0174 a0040c0034t0001g0181 a0049c0066t0001g0089 a0051c0045t0001g0122 a0054c0057t0001g0112	5	200	0.0250	19	c.186 others(28): Show c.1866_1867insGAGCGTCTGCGGGGGCCGC	p.Phe others(5): Show p.Phe623fs	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2081/4020	1866/3669	622/1222			chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534710	C C	CCGAGCGT others(12): Show CCGAGCGTCTGCGGGGGCCG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG01496.hp1 HG02040.hp2 others(1): Show HG00621.hp1 HG01496.hp1 HG02040.hp2 NA20300.hp1	a0009 a0011 a0016 others(1): Show a0009 a0011 a0016 a0028	a0009c0004 a0011c0008 a0016c0024 others(1): Show a0009c0004 a0011c0008 a0016c0024 a0028c0027	a0009c0004t0010 a0011c0008t0016 a0016c0024t0002 others(1): Show a0009c0004t0010 a0011c0008t0016 a0016c0024t0002 a0028c0027t0013	a0009c0004t0010g0043 a0011c0008t0016g0039 a0016c0024t0002g0006 others(1): Show a0009c0004t0010g0043 a0011c0008t0016g0039 a0016c0024t0002g0006 a0028c0027t0013g0040	4	46	0.0870	19	c.172 others(28): Show c.1728_1729insGAGCGTCTGCGGGGGCCGC	p.Phe others(5): Show p.Phe577fs	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4640/6463	1729/3402	577/1133		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28455090	T T	TAATTAAA others(12): Show TAATTAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01243.hp1 NA18953.hp1 others(4): Show HG00408.hp1 HG01243.hp1 NA18953.hp1 NA18959.hp1 NA19005.hp1 NA19068.hp1 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0004c0004t0001 a0001c0001t0001 a0001c0001t0003 a0004c0004t0001	a0001c0001t0001g0234 a0001c0001t0003g0264 a0004c0004t0001g0002 others(2): Show a0001c0001t0001g0234 a0001c0001t0003g0264 a0004c0004t0001g0002 a0004c0004t0001g0091 a0004c0004t0001g0106	7	18	0.3889	19	c.13 others(30): Show c.1333_*1334insTTTTTTTTTTTTTTTAATT		NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding					1238		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28470551	G G	GGAGGGGA others(12): Show GGAGGGGAGGGGGGAGGGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0317 a0002c0002t0017g0317	1	375	0.0027	19	c.-11 others(28): Show c.-114_-113insTCCCCTCCCCCCTCCCCTC		NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	1/7				114		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28470557	A A	AGGGGGGA others(12): Show AGGGGGGAGGGGAAGGGGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0273 a0002c0002t0015g0273	1	375	0.0027	19	c.-12 others(28): Show c.-120_-119insCTCCCCTTCCCCTCCCCCC		NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	1/7				120		chr16	TogoVar
NPIPB7_chr16_28451329_28477336	28470625	A A	AAGGGGAG others(12): Show AAGGGGAGGGGAAGGGGAGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02080.hp2 HG02135.hp1 HG04228.hp1 HG02080.hp2 HG02135.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0006 a0002c0002t0002g0276 a0002c0002t0002g0277	3	307	0.0098	19	c.-18 others(28): Show c.-188_-187insCCTCCCCTTCCCCTCCCCT		NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	1/7				188		chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28644466	T T	TCCCCCTC others(12): Show TCCCCCTCCCCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0158 a0002c0002t0002g0158	1	343	0.0029	19	c.121 others(36): Show c.121-3653_121-3652insCTCCCCCCTCCCCTCCCCC		NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28646202	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01257.hp2 HG01981.hp1 others(4): Show HG01168.hp2 HG01257.hp2 HG01981.hp1 NA18941.hp1 NA18964.hp2 NA18990.hp1 NA19079.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0002c0014 a0005c0006 a0002c0003 a0002c0014 a0005c0006	a0002c0003t0002 a0002c0014t0002 a0005c0006t0002 others(1): Show a0002c0003t0002 a0002c0014t0002 a0005c0006t0002 a0005c0006t0007	a0002c0003t0002g0281 a0002c0003t0002g0293 a0002c0003t0002g0303 others(4): Show a0002c0003t0002g0281 a0002c0003t0002g0293 a0002c0003t0002g0303 a0002c0003t0002g0306 a0002c0014t0002g0301 a0005c0006t0002g0295 a0005c0006t0007g0294	7	58	0.1207	19	c.121 others(36): Show c.121-1925_121-1907dupTTTTTTTTTTTTTTTTTTT		NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28662527	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	36	0.0278	19	c.38 others(30): Show c.3897_*3898insGTGTGTGTGTGTGTGTGTG		NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding					3784		chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28662566	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0104 a0011c0011t0001g0104	1	343	0.0029	19	c.39 others(30): Show c.3936_*3937insGTGTGTGTGTGTGTGTGTG		NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding					3823		chr16	TogoVar
NPLOC4_chr17_81551887_81642112	81581375	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAGTC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0201 a0001c0007t0007g0201	1	157	0.0064	19	c.128 others(38): Show c.1281+7568_1281+7569insGACTTTTTTTTTTTTTTTT		NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	12/16						chr17	TogoVar
NPM2_chr8_22019134_22041897	22021909	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	14	0.0714	19	c.-28 others(30): Show c.-2855_-2854insAAAAAAAAAAAAAAAAAAA		NPM2	ENSG00000158806.14	transcript	ENST00000518119.6	protein_coding					2224		chr8	TogoVar
NPR3_chr5_32706321_32796720	32710859	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	196	0.0051	19	c.-91 others(28): Show c.-918_-917insTTTTTTTTTTTTTTTTTTT		NPR3	ENSG00000113389.16	transcript	ENST00000265074.13	protein_coding					461		chr5	TogoVar
NPRL3_chr16_80386_143673	103296	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	34	0.0294	19	c.630 others(36): Show c.630-2806_630-2788dupAAAAAAAAAAAAAAAAAAA		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	7/13						chr16	TogoVar
NPRL3_chr16_80386_143673	134694	A A	ATTATTAT others(12): Show ATTATTATTATTATTATTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03579.hp1 NA19043.hp1 HG02451.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0001g0037 a0001c0001t0002g0036 a0001c0001t0002g0038	3	267	0.0112	19	c.118 others(36): Show c.118+3455_118+3456insAAAATAATAATAATAATAA		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	2/13						chr16	TogoVar
NPRL3_chr16_80386_143673	134694	A A	ATTATTAT others(12): Show ATTATTATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	265	0.0038	19	c.118 others(36): Show c.118+3455_118+3456insAAAAAAAAAAAAATAATAA		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	2/13						chr16	TogoVar
NPSR1_chr7_34653218_34854978	34823399	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG01106.hp2 others(11): Show HG00544.hp1 HG00738.hp1 HG01106.hp2 HG01255.hp1 HG01978.hp1 HG02055.hp2 HG02615.hp1 NA18612.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18998.hp2 NA19079.hp2 NA20805.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0011	a0001c0009 a0003c0010 a0004c0003 others(3): Show a0001c0009 a0003c0010 a0004c0003 a0005c0004 a0006c0006 a0011c0017	a0001c0009t0001 a0001c0009t0007 a0003c0010t0004 others(5): Show a0001c0009t0001 a0001c0009t0007 a0003c0010t0004 a0004c0003t0002 a0005c0004t0003 a0006c0006t0001 a0006c0006t0006 a0011c0017t0004	a0001c0009t0001g0061 a0001c0009t0001g0066 a0001c0009t0007g0030 others(11): Show a0001c0009t0001g0061 a0001c0009t0001g0066 a0001c0009t0007g0030 a0003c0010t0004g0050 a0004c0003t0002g0124 a0004c0003t0002g0125 a0005c0004t0003g0163 a0006c0006t0001g0043 a0006c0006t0001g0049 a0006c0006t0001g0051 a0006c0006t0001g0057 a0006c0006t0001g0062 a0006c0006t0006g0065 a0011c0017t0004g0067	14	107	0.1308	19	c.479 others(36): Show c.479-3985_479-3984insAAAAAAAAAAAAAAAAAAA		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34823400	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02148.hp1 HG02273.hp2 HG01993.hp1 HG02148.hp1 HG02273.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0004 a0006c0006t0002 a0006c0006t0004	a0006c0006t0002g0021 a0006c0006t0004g0034 a0006c0006t0004g0036 a0006c0006t0002g0021 a0006c0006t0004g0034 a0006c0006t0004g0036	3	258	0.0116	19	c.479 others(36): Show c.479-3985_479-3984insAACAAAAAAAAAAAAAAAA		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPTN_chr15_73555014_73638389	73580623	G G	GTATATAT others(12): Show GTATATATGTATATACATGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	339	0.0029	19	c.707 others(36): Show c.707-6847_707-6829dupACATGTATATACATATATA		NPTN	ENSG00000156642.17	transcript	ENST00000345330.9	protein_coding	4/8						chr15	TogoVar
NPTN_chr15_73555014_73638389	73636112	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 NA19091.hp2 HG03225.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0262 a0001c0001t0001g0249 a0001c0001t0001g0262	2	209	0.0096	19	c.-28 others(30): Show c.-2898_-2897insAAAAAAAAAAAAAAAAAAA		NPTN	ENSG00000156642.17	transcript	ENST00000345330.9	protein_coding					2724		chr15	TogoVar
NPVF_chr7_25219570_25233486	25231866	A A	ATCTTTCA others(12): Show ATCTTTCATAATAATCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	448	0.0022	19	c.-34 others(30): Show c.-3428_-3427insATGGGATTATTATGAAAGA		NPVF	ENSG00000105954.2	transcript	ENST00000222674.2	protein_coding					3381		chr7	TogoVar
NPY4R2_chr10_47913662_47928524	47913930	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0011 a0001c0003t0006g0011	1	93	0.0108	19	c.-52 others(30): Show c.-5228_-5227insTTTTTTTTTTTTTTTTTTT		NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding					4731		chr10	TogoVar
NQO2_chr6_2994894_3024755	3012946	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0135 a0003c0004t0001g0135	1	125	0.0080	19	c.303 others(34): Show c.303+281_303+299dupTTTTTTTTTTTTTTTTTTT		NQO2	ENSG00000124588.22	transcript	ENST00000380455.11	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NR0B1_chrX_30299206_30314390	30301001	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02602.hp1 HG02258.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0003t0001g0030 a0001c0001t0001g0004 a0001c0003t0001g0030	2	279	0.0072	19	c.35 others(30): Show c.3577_*3578insTCTCTCTCTCTCTCTCTCT		NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding					3204		chrX	TogoVar
NR2C1_chr12_95015229_95078618	95043689	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 NA18942.hp1 others(17): Show HG00558.hp2 HG00621.hp1 NA18942.hp1 NA18946.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18980.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19005.hp2 NA19007.hp2 NA19057.hp1 NA19058.hp1 NA19081.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0179 a0001c0001t0001g0321 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0179 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0350 a0001c0001t0001g0351	20	309	0.0647	19	c.113 others(38): Show c.1132-3093_1132-3092insTTTTTTTTTTTTTTTTTTT		NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding	9/13						chr12	TogoVar
NR3C2_chr4_148073764_148447414	148363504	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG02647.hp1 others(4): Show HG01106.hp2 HG02109.hp1 HG02647.hp1 HG02897.hp2 HG03453.hp1 HG06807.hp2 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0006t0006 a0004c0005t0004	a0001c0001t0001g0101 a0001c0001t0004g0143 a0001c0003t0001g0012 others(4): Show a0001c0001t0001g0101 a0001c0001t0004g0143 a0001c0003t0001g0012 a0001c0003t0002g0009 a0001c0003t0002g0011 a0001c0006t0006g0067 a0004c0005t0004g0015	7	112	0.0625	19	c.175 others(40): Show c.1757+71599_1757+71600insAAAAAAAAAAAAAAAAAAA		NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8						chr4	TogoVar
NR4A3_chr9_99816885_99871891	99862549	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02970.hp1 HG02109.hp1 HG02258.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0180 a0001c0001t0001g0029 a0001c0001t0001g0180	3	64	0.0469	19	c.163 others(38): Show c.1634-1055_1634-1037dupAAAAAAAAAAAAAAAAAAA		NR4A3	ENSG00000119508.18	transcript	ENST00000395097.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NR4A3_chr9_99816885_99871891	99862582	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	263	0.0038	19	c.163 others(38): Show c.1634-1037_1634-1036insAAAAAAAAAAAAAAAAAGA		NR4A3	ENSG00000119508.18	transcript	ENST00000395097.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NR5A1_chr9_124476236_124512399	124504051	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0181 a0002c0009t0002g0181	1	295	0.0034	19	c.-15 others(34): Show c.-15-642_-15-641insCTCTCTCTCTCTCTCTCTC		NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding	1/6						chr9	TogoVar
NR5A2_chr1_200022710_200182415	200074736	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp1 HG01516.hp2 others(5): Show HG01358.hp1 HG01496.hp1 HG01516.hp2 HG02738.hp1 HG02965.hp1 HG02976.hp2 HG03195.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0005t0001 a0001c0005t0004	a0001c0001t0002g0034 a0001c0001t0002g0151 a0001c0001t0003g0030 others(5): Show a0001c0001t0002g0034 a0001c0001t0002g0151 a0001c0001t0003g0030 a0001c0001t0005g0019 a0001c0002t0001g0018 a0001c0005t0001g0282 a0001c0005t0004g0021 a0001c0005t0004g0023	8	75	0.1067	19	c.111 others(40): Show c.1110+25920_1110+25938dupAAAAAAAAAAAAAAAAAAA		NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
NR5A2_chr1_200022710_200182415	200127695	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01993.hp1 HG02738.hp2 HG00558.hp1 HG01993.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0002g0161 a0001c0003t0001g0027 a0001c0003t0002g0154 a0001c0001t0002g0161 a0001c0003t0001g0027 a0001c0003t0002g0154	3	257	0.0117	19	c.137 others(38): Show c.1378+6740_1378+6741insTATATATATATATATATAT		NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	7/7						chr1	TogoVar
NR5A2_chr1_200022710_200182415	200127699	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	210	0.0048	19	c.137 others(38): Show c.1378+6744_1378+6745insTATATATATATATATATAT		NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	7/7						chr1	TogoVar
NR5A2_chr1_200022710_200182415	200127703	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0061 a0001c0003t0006g0061	1	189	0.0053	19	c.137 others(38): Show c.1378+6748_1378+6749insTATATATATATATATATAT		NR5A2	ENSG00000116833.14	transcript	ENST00000367362.8	protein_coding	7/7						chr1	TogoVar
NR6A1_chr9_124512275_124776311	124637907	A A	AAAAAAAG others(12): Show AAAAAAAGAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0070 a0003c0006t0070	a0003c0006t0070g0234 a0003c0006t0070g0234	1	228	0.0044	19	c.143 others(38): Show c.143-83338_143-83337insCTTTTTCTTTTTCTTTTTT		NR6A1	ENSG00000148200.17	transcript	ENST00000487099.7	protein_coding	2/9						chr9	TogoVar
NR6A1_chr9_124512275_124776311	124666275	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0179 a0001c0001t0052g0179	1	111	0.0090	19	c.142 others(38): Show c.142+67014_142+67032dupAAAAAAAAAAAAAAAAAAA		NR6A1	ENSG00000148200.17	transcript	ENST00000487099.7	protein_coding	2/9						chr9	TogoVar

Search by Variant

Search

Search Results