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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NGEF_chr2_232873701_233018256	232969472	T T	TCCTTCCT others(22): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03927.hp2 HG01123.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0007 a0001c0001t0007 a0001c0005t0007	a0001c0001t0007g0172 a0001c0005t0007g0025 a0001c0001t0007g0172 a0001c0005t0007g0025	2	362	0.0055	29	c.383 others(44): Show c.383+741_383+742insGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14			chr2	TogoVar
NGF_chr1_115280917_115343249	115337267	G G	GTTTGTTT others(22): Show GTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	418	0.0024	29	c.-13 others(46): Show c.-137+936_-137+937insAAAAAAAAAAAAAAAAAAAAAAAAACAA A	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGLY1_chr3_25713944_25788443	25760860	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	264	0.0038	29	c.492 others(46): Show c.492+3177_492+3205dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NHLRC4_chr16_562005_574495	571095	G G	GTGTGTGT others(22): Show GTGTGTGTGTGTGTGTGTGTCTGGCTAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG02148.hp1 HG00323.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	424	0.0047	29	c.26 others(40): Show c.2676_*2677insTGTGTGTGTGTGTGTGTGTCTGGCTAGCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1601		chr16	TogoVar
NHSL1_chr6_138417043_138504494	138455457	G G	GCTGCAAG others(22): Show GCTGCAAGGAGCCCCGCCTTCACATGCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0170 a0001c0003t0007g0170	1	332	0.0030	29	c.340 others(46): Show c.340-8293_340-8265dupGGAGCATGTGAAGGCGGGGCTCCTTGCA G	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	3/7			chr6	TogoVar
NHSL1_chr6_138417043_138504494	138455465	G G	GAGCCCCG others(22): Show GAGCCCCGCCTTCACATGCTCCCTGCAAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00597.hp1 others(67): Show HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG01081.hp1 HG01106.hp2 HG01261.hp1 HG01496.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02148.hp1 HG02258.hp2 HG02273.hp2 HG02622.hp1 HG02630.hp2 HG02922.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18941.hp1 NA18942.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18990.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19010.hp1 NA19054.hp1 NA19054.hp2 NA19065.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA19091.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0013	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0030 a0001c0042 a0002c0005 a0003c0006 a0007c0011 a0013c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0032 a0001c0001t0051 a0001c0002t0001 a0001c0002t0009 a0001c0003t0007 a0001c0003t0021 a0001c0004t0002 a0001c0004t0004 a0001c0004t0009 a0001c0004t0028 a0001c0004t0030 a0001c0030t0025 a0001c0042t0011 a0002c0005t0001 a0002c0005t0002 a0003c0006t0005 a0007c0011t0008 a0013c0032t0001	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 others(66): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0086 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0292 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0002g0021 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0266 a0001c0001t0003g0001 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0050 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0166 a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0213 a0001c0001t0003g0259 a0001c0001t0003g0262 a0001c0001t0003g0276 a0001c0001t0006g0199 a0001c0001t0006g0205 a0001c0001t0006g0229 a0001c0001t0006g0260 a0001c0001t0009g0197 a0001c0001t0014g0207 a0001c0001t0015g0039 a0001c0001t0015g0275 a0001c0001t0032g0228 a0001c0001t0051g0331 a0001c0002t0001g0024 a0001c0002t0001g0101 a0001c0002t0001g0109 a0001c0002t0001g0296 a0001c0002t0009g0020 a0001c0003t0007g0124 a0001c0003t0007g0129 a0001c0003t0007g0179 a0001c0003t0007g0180 a0001c0003t0007g0330 a0001c0003t0021g0083 a0001c0004t0002g0115 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0009g0004 a0001c0004t0028g0005 a0001c0004t0030g0241 a0001c0030t0025g0006 a0001c0042t0011g0116 a0002c0005t0001g0216 a0002c0005t0001g0263 a0002c0005t0001g0272 a0002c0005t0002g0219 a0003c0006t0005g0133 a0007c0011t0008g0134 a0013c0032t0001g0195	70	332	0.2108	29	c.340 others(46): Show c.340-8273_340-8272insTCTTGCAGGGAGCATGTGAAGGCGGGGC T	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	3/7			chr6	TogoVar
NHSL1_chr6_138417043_138504494	138455472	G G	GCCTTCAC others(22): Show GCCTTCACATGCTCCCTGCAAGAAGCCCCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0278 a0001c0007t0011g0278	1	332	0.0030	29	c.340 others(46): Show c.340-8280_340-8279insTGGGGCTTCTTGCAGGGAGCATGTGAAG G	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	3/7			chr6	TogoVar
NHSL1_chr6_138417043_138504494	138455494	G G	GAGCCCCG others(22): Show GAGCCCCGCCTTCACATGCTCCCTGCAAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02132.hp2 NA19004.hp2 HG00408.hp2 HG02132.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0102 a0001c0001t0001g0221 a0001c0002t0003g0003 a0001c0001t0001g0102 a0001c0001t0001g0221 a0001c0002t0003g0003	3	332	0.0090	29	c.340 others(46): Show c.340-8302_340-8301insTCTTGCAGGGAGCATGTGAAGGCGGGGC T	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	3/7			chr6	TogoVar
NID2_chr14_51999809_52074059	52030552	G G	GAAAGAAA others(22): Show GAAAGAAAGAGAAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19043.hp1 HG02723.hp1 NA19043.hp1	a0014 a0014	a0014c0056 a0014c0058 a0014c0056 a0014c0058	a0014c0056t0001 a0014c0058t0001 a0014c0056t0001 a0014c0058t0001	a0014c0056t0001g0334 a0014c0058t0001g0333 a0014c0056t0001g0334 a0014c0058t0001g0333	2	372	0.0054	29	c.225 others(46): Show c.2258-863_2258-862insTCTTTCTTTCTCTTTCTTTCTCTTTCTT T	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	404	0.0025	29	c.33+ others(46): Show c.33+33431_33+33432insATATATATATTTTTTTTTTTTTTTTTTT T	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG04228.hp1 HG01261.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0160 a0001c0001t0002g0189 a0001c0001t0001g0160 a0001c0001t0002g0189	2	404	0.0050	29	c.33+ others(46): Show c.33+33431_33+33432insATATATATATATTTTTTTTTTTTTTTTT T	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01934.hp1 HG00423.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0269 a0001c0001t0001g0171 a0001c0001t0001g0269	2	404	0.0050	29	c.33+ others(46): Show c.33+33431_33+33432insATATATATATATATTTTTTTTTTTTTTT T	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	404	0.0025	29	c.33+ others(46): Show c.33+33431_33+33432insATATATATATATATATTTTTTTTTTTTT T	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NIPAL3_chr1_24410802_24477976	24428258	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0187 a0001c0001t0011g0187	1	380	0.0026	29	c.93+ others(44): Show c.93+8618_93+8619insGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	NIPAL3	ENSG00000001461.17	transcript	ENST00000374399.9	protein_coding	2/11			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31218071	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18612.hp2 HG03927.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0263 a0001c0001t0003g0230 a0001c0001t0003g0263	2	338	0.0059	29	c.54+ others(46): Show c.54+21422_54+21423insGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN3_chr8_62243854_62989904	62729023	C C	CAAACCAA others(22): Show CAAACCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03239.hp2 HG04184.hp1 HG02630.hp2 HG03239.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0059 a0001c0002t0001 a0001c0002t0006 a0001c0002t0059	a0001c0002t0001g0073 a0001c0002t0006g0116 a0001c0002t0059g0023 a0001c0002t0001g0073 a0001c0002t0006g0116 a0001c0002t0059g0023	3	144	0.0208	29	c.274 others(48): Show c.274-17909_274-17908insAAACCAAAAAAAAAAAAAAAAAAAAA AAA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	3/6			chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTTT others(22): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0096 a0001c0001t0043 a0001c0001t0096	a0001c0001t0043g0009 a0001c0001t0096g0128 a0001c0001t0043g0009 a0001c0001t0096g0128	2	144	0.0139	29	c.472 others(48): Show c.472-34994_472-34993insGTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKD2_chr5_1003802_1043943	1043585	T T	TGGGTGTG others(22): Show TGGGTGTGTGAACGAGTGGGTGAGTTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	319	0.0031	29	c.52 others(40): Show c.5212_*5213insGGGTGTGTGAACGAGTGGGTGAGTTTGTG	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding		4643		chr5	TogoVar
NKX1-2_chr10_124440243_124455035	124444486	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0006 a0002c0004t0004g0006	1	446	0.0022	29	c.29 others(40): Show c.2942_*2943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding		756		chr10	TogoVar
NLGN1_chr3_173392744_174299372	173600592	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0027 a0001c0007t0027	a0001c0007t0027g0020 a0001c0007t0027g0020	1	44	0.0227	29	c.-32 others(48): Show c.-320-3678_-320-3677insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN1_chr3_173392744_174299372	174154992	T T	TAATTATA others(22): Show TAATTATATATAATATAATATATTATTATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG03139.hp2 HG01192.hp1 HG02055.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0037 a0001c0002t0012 a0001c0005t0035 a0001c0001t0037 a0001c0002t0012 a0001c0005t0035	a0001c0001t0037g0009 a0001c0002t0012g0015 a0001c0005t0035g0016 a0001c0001t0037g0009 a0001c0002t0012g0015 a0001c0005t0035g0016	3	44	0.0682	29	c.707 others(50): Show c.707-120323_707-120322insAATTATATATAATATAATATATTA TTATA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6			chr3	TogoVar
NLK_chr17_28037677_28201381	28061761	C C	CATATACA others(22): Show CATATACATATATACATATACATATATAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp1 HG03579.hp2 HG02572.hp1 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0016 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0003g0016 a0001c0001t0006g0006 a0001c0001t0006g0007	3	108	0.0278	29	c.458 others(48): Show c.458+18487_458+18515dupATATATACATATATACATATACATAT ATA	NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02293.hp2 HG02886.hp1 others(5): Show HG00140.hp1 HG02293.hp2 HG02886.hp1 HG03225.hp2 NA19002.hp1 NA19075.hp1 NA19078.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 others(5): Show a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0350	8	394	0.0203	29	c.-11 others(48): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRP11_chr19_55780399_55836999	55831096	C C	CCCACCCC others(22): Show CCCACCCCCCCAATCCCCCCCACCCCCCTG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18961.hp1 NA18990.hp1 others(6): Show NA18944.hp1 NA18961.hp1 NA18990.hp1 NA18992.hp2 NA19003.hp1 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0001c0014 others(2): Show a0001c0001 a0001c0013 a0001c0014 a0002c0002 a0002c0007	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(6): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0013t0002 a0001c0014t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0012 a0002c0007t0003	a0001c0001t0008g0017 a0001c0001t0009g0292 a0001c0001t0010g0265 others(6): Show a0001c0001t0008g0017 a0001c0001t0009g0292 a0001c0001t0010g0265 a0001c0013t0002g0018 a0001c0014t0001g0293 a0002c0002t0002g0081 a0002c0002t0010g0080 a0002c0002t0012g0079 a0002c0007t0003g0016	9	444	0.0203	29	c.-63 others(44): Show c.-63+866_-63+867insCAGGGGGGTGGGGGGGATTGGGGGGGTGG	NLRP11	ENSG00000179873.14	transcript	ENST00000589093.6	protein_coding	1/9			chr19	TogoVar
NLRP11_chr19_55780399_55836999	55831098	C C	CACCCCCC others(22): Show CACCCCCCCAATCCCCCCCACCCCCCTGCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0007 a0001c0015t0003g0007	2	444	0.0045	29	c.-63 others(44): Show c.-63+864_-63+865insAGCAGGGGGGTGGGGGGGATTGGGGGGGT	NLRP11	ENSG00000179873.14	transcript	ENST00000589093.6	protein_coding	1/9			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55930686	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0092 a0003c0006t0001g0092	1	440	0.0023	29	c.319 others(46): Show c.319+1306_319+1307insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP1_chr17_5509118_5589509	5561426	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0368 a0002c0005t0006g0368	1	404	0.0025	29	c.653 others(46): Show c.653-1384_653-1383insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	NLRP1	ENSG00000091592.17	transcript	ENST00000572272.6	protein_coding	3/16			chr17	TogoVar
NLRP2_chr19_54961374_55006138	54975106	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0254 a0003c0006t0001g0254	1	429	0.0023	29	c.325 others(44): Show c.325+571_325+599dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03927.hp2 HG02135.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0407 a0002c0003t0003g0417 a0002c0003t0003g0407 a0002c0003t0003g0417	2	429	0.0047	29	c.326 others(44): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54984485	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18947.hp1 NA19009.hp1 HG02027.hp1 NA18947.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0003 a0001c0010 a0002c0003	a0001c0010t0003 a0002c0003t0003 a0001c0010t0003 a0002c0003t0003	a0001c0010t0003g0364 a0002c0003t0003g0250 a0002c0003t0003g0267 a0001c0010t0003g0364 a0002c0003t0003g0250 a0002c0003t0003g0267	3	429	0.0070	29	c.203 others(46): Show c.2031-547_2031-546insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55837607	A A	AACACACA others(22): Show AACACACACCACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18999.hp1 HG02300.hp2 NA18999.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0006 a0005c0010t0002 a0002c0002t0006 a0005c0010t0002	a0002c0002t0006g0279 a0005c0010t0002g0280 a0002c0002t0006g0279 a0005c0010t0002g0280	2	424	0.0047	29	c.-66 others(44): Show c.-66+681_-66+682insCACACACACACACACACACACACACACAC	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56013596	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0285 a0004c0020t0001g0285	1	396	0.0025	29	c.509 others(46): Show c.509-2125_509-2124insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NMBR_chr6_142069484_142152122	142079104	G G	GAGAAAGA others(22): Show GAGAAAGAGAGAGAGAGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	330	0.0030	29	c.423 others(44): Show c.423-202_423-201insTTCTTTCTTTCTTCTCTCTCTCTCTTTCT	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	2/3			chr6	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	413	0.0024	29	c.48 others(40): Show c.4818_*4819insAAAAAAAAAAAATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 NA18963.hp1 NA18983.hp2 others(1): Show HG02083.hp2 NA18963.hp1 NA18983.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0057 a0001c0001t0001g0001 a0001c0001t0001g0057	4	413	0.0097	29	c.48 others(40): Show c.4818_*4819insAAAAAAAAAATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	29	c.48 others(40): Show c.4818_*4819insAAAAAATATATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(22): Show TGTGGGGGGGTGAGGGAGTCGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02735.hp2 NA18940.hp2 others(6): Show HG02132.hp2 HG02735.hp2 NA18940.hp2 NA18942.hp2 NA18990.hp2 NA19009.hp2 NA19070.hp2 NA19081.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0131 a0001c0001t0001g0248 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0131 a0001c0001t0001g0248 a0001c0001t0001g0259	9	356	0.0253	29	c.91+ others(42): Show c.91+418_91+419insTGGGGGTGGGGGGGTGAGGGAGTCGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME8_chr7_37843597_37905397	37844092	A A	AAGAGGGG others(22): Show AAGAGGGGGGGGGGGGGGGGGGAAGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0002 a0005c0014t0002	a0005c0014t0002g0295 a0005c0014t0002g0295	1	388	0.0026	29	c.-48 others(40): Show c.-4877_-4876insAGAGGGGGGGGGGGGGGGGGGAAGGGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		4504		chr7	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(22): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0001 a0002c0009t0001g0001	1	388	0.0026	29	c.-17 others(40): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1376		chr7	TogoVar
NME8_chr7_37843597_37905397	37848227	G G	GAAAAGAA others(22): Show GAAAAGAAGAAGAAAAGAAGAAGAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18998.hp1 NA18940.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0255 a0001c0001t0004g0003 a0001c0001t0004g0255	2	388	0.0052	29	c.-74 others(38): Show c.-742_-741insAAAAGAAGAAGAAAAGAAGAAGAGAAGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		369		chr7	TogoVar
NME8_chr7_37843597_37905397	37848245	G G	GAAGAAGA others(22): Show GAAGAAGAGGAAGAAGAGGAAGAAGAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18979.hp1 NA18974.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0156 a0001c0004t0001g0165 a0001c0001t0001g0156 a0001c0004t0001g0165	2	388	0.0052	29	c.-72 others(38): Show c.-724_-723insAAGAAGAGGAAGAAGAGGAAGAAGAGGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		351		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG04115.hp2 HG01981.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0054 a0001c0001t0010 a0001c0001t0054	a0001c0001t0010g0009 a0001c0001t0054g0060 a0001c0001t0010g0009 a0001c0001t0054g0060	2	258	0.0078	29	c.86- others(46): Show c.86-47933_86-47932insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAACAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0175 a0001c0001t0016g0175	1	258	0.0039	29	c.86- others(46): Show c.86-47933_86-47932insTTTTTTGTTTTTTTTTTTTTTTTTTTTT T	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMT2_chr10_15100770_15173693	15168786	G G	GCCCCCTC others(22): Show GCCCCCTCCCCGCCCTCCGTCCCGCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0130 a0001c0002t0019g0131 a0001c0002t0019g0130 a0001c0002t0019g0131	2	276	0.0073	29	c.-17 others(38): Show c.-175_-174insAGGGGGCGGGACGGAGGGCGGGGAGGGGG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding		94		chr10	TogoVar
NMUR2_chr5_152386546_152410279	152397012	G G	GTTTTTTT others(22): Show GTTTTTTTTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0075 a0002c0003t0002g0075	1	446	0.0022	29	c.811 others(46): Show c.811+1047_811+1048insAAAAAAAAAAAAAAAAAACAAAAAAAAA A	NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding	2/3			chr5	TogoVar
NMUR2_chr5_152386546_152410279	152397012	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03239.hp1 NA20905.hp2 HG02647.hp1 HG03239.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0078 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0078	3	446	0.0067	29	c.811 others(46): Show c.811+1047_811+1048insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding	2/3			chr5	TogoVar
NOC4L_chr12_132139457_132157468	132156139	A A	ACCACTAC others(22): Show ACCACTACACCACTACACACCACTACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	294	0.0034	29	c.37 others(40): Show c.3738_*3739insCCACTACACCACTACACACCACTACACAC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		3672		chr12	TogoVar
NOL4L_chr20_32438059_32590333	32485058	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	196	0.0051	29	c.700 others(48): Show c.700-10345_700-10317dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4_chr18_33846100_34229913	34024192	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	168	0.0060	29	c.773 others(46): Show c.773-4592_773-4591insATATATATATATATATATATATATATAT A	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOP14_chr4_2932936_2968406	2954976	A A	ACCACGGC others(22): Show ACCACGGCGCCCCCTCTAGTCACCTGCATG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0281 a0002c0002t0001g0281	1	422	0.0024	29	c.473 others(44): Show c.473-414_473-413insCATGCAGGTGACTAGAGGGGGCGCCGTGG	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	3/17			chr4	TogoVar

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Search Results (Total: 6085 hits)