Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
NPBWR2_chr20_64098802_64112565	64103484	C C	CCCCTGGG others(12): Show CCCCTGGGTCGCTGGCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG03516.hp1 HG01934.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0053 a0001c0002t0038 a0001c0002t0053	a0001c0002t0038g0033 a0001c0002t0053g0057 a0001c0002t0038g0033 a0001c0002t0053g0057	2	355	0.0056	19	c.23 others(30): Show c.2327_*2345dupAGGAGCCAGCGACCCAGGG		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding					317		chr20	TogoVar
NPC1_chr18_23526442_23591506	23549742	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0345 a0001c0001t0003g0345	1	378	0.0027	19	c.165 others(38): Show c.1655-1635_1655-1634insAAAAAAAAAAAAAAAAAAA		NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24						chr18	TogoVar
NPC1_chr18_23526442_23591506	23550479	C C	CTTCTTTT others(12): Show CTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19240.hp2 HG03486.hp1 NA19240.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0008 a0007c0008t0001g0008	2	378	0.0053	19	c.165 others(38): Show c.1654+1147_1654+1148insAAAAAAAAAAAAAAAAGAA		NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24						chr18	TogoVar
NPC1_chr18_23526442_23591506	23550479	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02559.hp2 HG02109.hp2 HG02486.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108	3	378	0.0079	19	c.165 others(38): Show c.1654+1129_1654+1147dupAAAAAAAAAAAAAAAAAAA		NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24						chr18	TogoVar
NPEPL1_chr20_58687800_58720844	58688623	G G	GGTGTGTG others(12): Show GGTGTGTGTGTGTGTGTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01081.hp2 HG01175.hp1 others(17): Show HG00609.hp1 HG01081.hp2 HG01175.hp1 HG02074.hp2 HG02257.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp2 NA18948.hp1 NA18971.hp2 NA18973.hp2 NA18988.hp1 NA19065.hp1 NA19065.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0003t0003 a0001c0003t0005 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0005 a0002c0002t0002 a0002c0006t0002	a0001c0001t0001g0025 a0001c0003t0003g0033 a0001c0003t0003g0093 others(15): Show a0001c0001t0001g0025 a0001c0003t0003g0033 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0111 a0001c0003t0003g0112 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0117 a0001c0003t0003g0119 a0001c0003t0003g0120 a0001c0003t0005g0028 a0001c0003t0005g0073 a0001c0003t0005g0074 a0001c0003t0005g0075 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0006t0002g0254	20	398	0.0503	19	c.-42 others(30): Show c.-4278_-4277insGTGTGTGTGTGTGTGTGGT		NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding					4176		chr20	TogoVar
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	342	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	a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0162 a0001c0001t0002g0163	2	342	0.0059	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	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	368	0.0027	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	a0001c0001t0001g0012 a0001c0001t0001g0012	2	344	0.0058	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	424	0.0024	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	424	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	a0001c0001t0001g0168 a0001c0001t0001g0168	1	253	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	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0003 a0002c0008t0003 a0002c0003t0003 a0002c0008t0003	a0002c0003t0003g0054 a0002c0003t0003g0215 a0002c0003t0003g0219 others(7): Show a0002c0003t0003g0054 a0002c0003t0003g0215 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0224 a0002c0003t0003g0226 a0002c0003t0003g0231 a0002c0008t0003g0193 a0002c0008t0003g0195	10	430	0.0233	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	a0002c0002t0001g0039 a0003c0003t0001g0028 a0003c0003t0001g0029 others(1): Show a0002c0002t0001g0039 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0034	4	132	0.0303	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	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0014 a0004c0004t0002g0015 a0004c0004t0002g0014 a0004c0004t0002g0015	2	21	0.0952	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	a0007 a0013 a0015 others(4): Show a0007 a0013 a0015 a0016 a0032 a0033 a0049	a0007c0017 a0007c0072 a0007c0074 others(6): Show a0007c0017 a0007c0072 a0007c0074 a0013c0069 a0015c0031 a0016c0032 a0032c0044 a0033c0045 a0049c0021	a0007c0017t0002 a0007c0072t0002 a0007c0074t0003 others(6): Show a0007c0017t0002 a0007c0072t0002 a0007c0074t0003 a0013c0069t0001 a0015c0031t0002 a0016c0032t0002 a0032c0044t0023 a0033c0045t0001 a0049c0021t0001	a0007c0017t0002g0124 a0007c0017t0002g0133 a0007c0072t0002g0125 others(7): Show a0007c0017t0002g0124 a0007c0017t0002g0133 a0007c0072t0002g0125 a0007c0074t0003g0105 a0013c0069t0001g0034 a0015c0031t0002g0130 a0016c0032t0002g0123 a0032c0044t0023g0144 a0033c0045t0001g0056 a0049c0021t0001g0040	10	145	0.0690	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	a0047 a0047	a0047c0055 a0047c0055	a0047c0055t0002 a0047c0055t0002	a0047c0055t0002g0117 a0047c0055t0002g0117	1	145	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	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0092 a0001c0004t0003g0092	1	145	0.0069	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	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0040 a0004c0004t0003g0040	1	261	0.0038	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	a0051 a0055 a0056 others(2): Show a0051 a0055 a0056 a0057 a0081	a0051c0080 a0055c0057 a0056c0086 others(2): Show a0051c0080 a0055c0057 a0056c0086 a0057c0058 a0081c0047	a0051c0080t0001 a0055c0057t0001 a0056c0086t0001 others(2): Show a0051c0080t0001 a0055c0057t0001 a0056c0086t0001 a0057c0058t0001 a0081c0047t0001	a0051c0080t0001g0084 a0055c0057t0001g0130 a0056c0086t0001g0197 others(2): Show a0051c0080t0001g0084 a0055c0057t0001g0130 a0056c0086t0001g0197 a0057c0058t0001g0182 a0081c0047t0001g0184	5	204	0.0245	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	a0016 a0022 a0029 others(1): Show a0016 a0022 a0029 a0033	a0016c0006 a0022c0029 a0029c0003 others(1): Show a0016c0006 a0022c0029 a0029c0003 a0033c0031	a0016c0006t0016 a0022c0029t0002 a0029c0003t0010 others(1): Show a0016c0006t0016 a0022c0029t0002 a0029c0003t0010 a0033c0031t0013	a0016c0006t0016g0039 a0022c0029t0002g0006 a0029c0003t0010g0043 others(1): Show a0016c0006t0016g0039 a0022c0029t0002g0006 a0029c0003t0010g0043 a0033c0031t0013g0040	4	47	0.0851	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 a0001c0001t0004 a0004c0004t0001 a0001c0001t0001 a0001c0001t0004 a0004c0004t0001	a0001c0001t0001g0309 a0001c0001t0004g0122 a0004c0004t0001g0001 others(2): Show a0001c0001t0001g0309 a0001c0001t0004g0122 a0004c0004t0001g0001 a0004c0004t0001g0206 a0004c0004t0001g0219	7	382	0.0183	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	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0050 a0002c0002t0037g0050	1	382	0.0026	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	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0043 a0002c0002t0034g0043	1	382	0.0026	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	a0002c0002t0018 a0002c0002t0035 a0002c0002t0018 a0002c0002t0035	a0002c0002t0018g0044 a0002c0002t0018g0045 a0002c0002t0035g0046 a0002c0002t0018g0044 a0002c0002t0018g0045 a0002c0002t0035g0046	3	382	0.0079	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	a0002c0002t0002g0159 a0002c0002t0002g0159	1	351	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 a0006 a0002 a0006	a0002c0003 a0002c0014 a0006c0005 a0002c0003 a0002c0014 a0006c0005	a0002c0003t0002 a0002c0014t0002 a0006c0005t0002 others(1): Show a0002c0003t0002 a0002c0014t0002 a0006c0005t0002 a0006c0005t0007	a0002c0003t0002g0282 a0002c0003t0002g0294 a0002c0003t0002g0304 others(4): Show a0002c0003t0002g0282 a0002c0003t0002g0294 a0002c0003t0002g0304 a0002c0003t0002g0307 a0002c0014t0002g0302 a0006c0005t0002g0296 a0006c0005t0007g0295	7	351	0.0199	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	a0001c0001t0004g0063 a0001c0001t0004g0063	1	351	0.0029	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	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0103 a0010c0011t0001g0103	1	351	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	a0001c0007t0007g0204 a0001c0007t0007g0204	1	344	0.0029	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	a0001c0001t0001g0039 a0001c0001t0001g0039	1	434	0.0023	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	a0001c0001t0001g0290 a0001c0001t0001g0290	1	320	0.0031	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	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0321	1	350	0.0029	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	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0137 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0002g0137 a0001c0001t0003g0136 a0001c0001t0003g0138	3	350	0.0086	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	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	350	0.0029	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	a0001c0009t0001g0071 a0001c0009t0001g0074 a0001c0009t0007g0040 others(11): Show a0001c0009t0001g0071 a0001c0009t0001g0074 a0001c0009t0007g0040 a0003c0010t0004g0060 a0004c0003t0002g0124 a0004c0003t0002g0125 a0005c0004t0003g0163 a0006c0006t0001g0053 a0006c0006t0001g0059 a0006c0006t0001g0061 a0006c0006t0001g0067 a0006c0006t0001g0072 a0006c0006t0006g0073 a0011c0017t0004g0075	14	260	0.0539	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	a0006c0006t0002g0031 a0006c0006t0004g0044 a0006c0006t0004g0046 a0006c0006t0002g0031 a0006c0006t0004g0044 a0006c0006t0004g0046	3	260	0.0115	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	a0001c0001t0001g0281 a0001c0001t0001g0281	1	342	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	a0001c0001t0001g0259 a0001c0001t0001g0272 a0001c0001t0001g0259 a0001c0001t0001g0272	2	342	0.0059	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	450	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	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0011 a0001c0003t0007g0011	1	276	0.0036	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	a0003c0004t0001g0128 a0003c0004t0001g0128	1	446	0.0022	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 a0001c0003t0001g0029 a0001c0001t0001g0004 a0001c0003t0001g0029	2	322	0.0062	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 a0001c0001t0001g0271 a0001c0001t0001g0321 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0271 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0350 a0001c0001t0001g0351	20	430	0.0465	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	170	0.0412	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 a0001c0001t0001g0187 a0001c0001t0001g0029 a0001c0001t0001g0187	3	278	0.0108	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	a0001c0001t0001g0151 a0001c0001t0001g0151	1	278	0.0036	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	a0002c0009t0002g0201 a0002c0009t0002g0201	1	356	0.0028	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	286	0.0280	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

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