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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
NLRP8_chr19_55942832_55993629	55957671	AATTATAT others(18): Show AATTATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG01175.hp1 others(15): Show HG00323.hp1 HG00609.hp1 HG01175.hp1 HG01192.hp1 HG01515.hp2 HG01517.hp2 HG02257.hp1 HG02486.hp1 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG02976.hp1 HG03195.hp2 HG03540.hp1 NA18949.hp1 NA18968.hp1 NA18999.hp1 NA20300.hp2	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0001 a0000c0004t0005 a0000c0004t0007 others(10): Show a0000c0004t0001 a0000c0004t0005 a0000c0004t0007 a0000c0004t0012 a0000c0004t0015 a0000c0004t0016 a0000c0004t0017 a0000c0004t0024 a0000c0004t0031 a0000c0004t0044 a0000c0004t0055 a0000c0004t0058 a0000c0004t0059	a0000c0004t0001g0230 a0000c0004t0005g0206 a0000c0004t0007g0208 others(15): Show a0000c0004t0001g0230 a0000c0004t0005g0206 a0000c0004t0007g0208 a0000c0004t0012g0210 a0000c0004t0012g0212 a0000c0004t0012g0213 a0000c0004t0015g0012 a0000c0004t0016g0214 a0000c0004t0016g0215 a0000c0004t0016g0216 a0000c0004t0016g0223 a0000c0004t0017g0229 a0000c0004t0024g0186 a0000c0004t0031g0228 a0000c0004t0044g0217 a0000c0004t0055g0236 a0000c0004t0058g0012 a0000c0004t0059g0209	18	350	0.0514	-25	c.204 others(44): Show c.2042+1574_2042+1598delTATATATATATATATATATATATAT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957677	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0135 a0001c0005t0009g0135	1	350	0.0029	-25	c.204 others(44): Show c.2042+1578_2042+1602delTATATATATATATATATATATATAT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9						chr19	TogoVar
NMBR_chr6_142069484_142152122	142125852	TTGTGTGT others(18): Show TTGTGTGTGTGATAATTACCTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0047 a0002c0002t0029g0047	1	330	0.0030	-25	c.-66 others(46): Show c.-664+21167_-664+21191delCACACAGGTAATTATCACACACAC A		NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	1/3						chr6	TogoVar
NME7_chr1_169127531_169372797	169354946	TATTATAT others(18): Show TATTATATATGTTTATATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00621.hp2 others(54): Show HG00099.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01074.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02165.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18971.hp2 NA18972.hp2 NA18995.hp2 NA19056.hp1 NA19062.hp2 NA19074.hp2 NA19082.hp2 NA19083.hp1 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(54): Show a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0151 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0003g0002 a0001c0002t0001g0187	57	302	0.1887	-25	c.3+1 others(40): Show c.3+12737_3+12761delTATATTATATATAAACATATATAAT		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139641003	GAACGGTA others(18): Show GAACGGTAGGCAGTTCATAAGTAACA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	322	0.0031	-25	c.-17 others(44): Show c.-177-2966_-177-2942delTGTTACTTATGAACTGCCTACCGTT		NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	1/6						chr3	TogoVar
NMT2_chr10_15100770_15173693	15112202	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0113 a0001c0004t0013g0113	1	276	0.0036	-25	c.133 others(42): Show c.1338+569_1338+593delAAAAAAAAAAATATATATATATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NOC4L_chr12_132139457_132157468	132156236	CACACCAC others(18): Show CACACCACTACACACACACACTGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	294	0.0034	-25	c.38 others(36): Show c.3836_*3860delACACCACTACACACACACACTGCAT		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding					3769		chr12	TogoVar
NOC4L_chr12_132139457_132157468	132157176	ACACACAC others(18): Show ACACACACTACACACACCACTACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	294	0.0034	-25	c.47 others(36): Show c.4776_*4800delCACACACTACACACACCACTACACG		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding					4709		chr12	TogoVar
NOL10_chr2_10565754_10694975	10590558	AGTTACTG others(18): Show AGTTACTGGGAAACAGAAGGGACGTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(233): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0003c0005 a0003c0006 a0004c0007 a0005c0009 a0006c0010 a0007c0011 a0008c0012	a0001c0001t0001 a0001c0001t0017 a0001c0002t0002 others(18): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0018 a0001c0004t0006 a0001c0004t0008 a0001c0004t0014 a0001c0008t0001 a0003c0005t0002 a0003c0005t0011 a0003c0006t0002 a0004c0007t0001 a0005c0009t0002 a0006c0010t0016 a0007c0011t0002 a0008c0012t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(233): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0093 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0017g0297 a0001c0002t0002g0011 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0193 a0001c0002t0002g0196 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0345 a0001c0002t0002g0348 a0001c0002t0002g0351 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0004g0216 a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0220 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0005g0366 a0001c0002t0005g0367 a0001c0002t0005g0368 a0001c0002t0005g0369 a0001c0002t0005g0370 a0001c0002t0005g0371 a0001c0002t0010g0001 a0001c0002t0012g0192 a0001c0002t0013g0264 a0001c0002t0018g0257 a0001c0004t0006g0097 a0001c0004t0006g0098 a0001c0004t0006g0099 a0001c0004t0006g0100 a0001c0004t0008g0358 a0001c0004t0008g0360 a0001c0004t0014g0359 a0001c0008t0001g0354 a0003c0005t0002g0103 a0003c0005t0002g0107 a0003c0005t0002g0108 a0003c0005t0002g0109 a0003c0005t0002g0346 a0003c0005t0011g0016 a0003c0006t0002g0104 a0003c0006t0002g0105 a0003c0006t0002g0106 a0003c0006t0002g0110 a0004c0007t0001g0258 a0004c0007t0001g0266 a0005c0009t0002g0239 a0006c0010t0016g0291 a0007c0011t0002g0276 a0008c0012t0002g0347	236	372	0.6344	-25	c.142 others(42): Show c.1423-832_1423-808delAACGTCCCTTCTGTTTCCCAGTAAC		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	17/20						chr2	TogoVar
NOL10_chr2_10565754_10694975	10638315	GACGTGAC others(18): Show GACGTGACGTGACGTGACGTAACGTA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp1 HG01261.hp2 others(19): Show HG01069.hp1 HG01109.hp1 HG01261.hp2 HG02145.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02886.hp1 HG02965.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0005 others(1): Show a0001c0001 a0001c0008 a0003c0005 a0003c0006	a0001c0001t0001 a0001c0008t0001 a0003c0005t0002 others(2): Show a0001c0001t0001 a0001c0008t0001 a0003c0005t0002 a0003c0005t0011 a0003c0006t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0008t0001g0354 a0003c0005t0002g0103 a0003c0005t0002g0107 a0003c0005t0002g0108 a0003c0005t0002g0109 a0003c0005t0002g0346 a0003c0005t0011g0016 a0003c0006t0002g0104 a0003c0006t0002g0105 a0003c0006t0002g0106 a0003c0006t0002g0110	22	372	0.0591	-25	c.102 others(44): Show c.1026+5980_1026+6004delTACGTTACGTCACGTCACGTCACGT		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	13/20						chr2	TogoVar
NOMO1_chr16_14828721_14901157	14829651	AGGGAGAT others(18): Show AGGGAGATATTATTCCTAATATCCGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	337	0.0030	-25	c.-42 others(36): Show c.-4200_-4176delGGGAGATATTATTCCTAATATCCGT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding					4069		chr16	TogoVar
NOS2_chr17_27751766_27805529	27803120	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02132.hp2 HG03130.hp1 HG01433.hp1 HG02132.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0001 a0001c0007t0008 a0001c0001t0002 a0001c0007t0001 a0001c0007t0008	a0001c0001t0002g0315 a0001c0007t0001g0211 a0001c0007t0008g0040 a0001c0001t0002g0315 a0001c0007t0001g0211 a0001c0007t0008g0040	3	402	0.0075	-25	c.-28 others(36): Show c.-2880_-2856delTTCCTTTCCTTTCCTTTCCTTTCCT		NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding					2592		chr17	TogoVar
NOTCH1_chr9_136489433_136551048	136528760	AATCCCGG others(18): Show AATCCCGGCCCACTGTCCTGCCACAG	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0073 a0001c0011t0002g0073	1	324	0.0031	-25	c.141 others(42): Show c.141-4806_141-4782delCTGTGGCAGGACAGTGGGCCGGGAT		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH3_chr19_15154038_15205995	15173735	AAAAAAAG others(18): Show AAAAAAAGAAAAGAAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0178 a0003c0004t0001g0178	1	340	0.0029	-25	c.473 others(42): Show c.4736+308_4736+332delCCTTCTCCTTCTTCTTTTCTTTTTT		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NOXA1_chr9_137418393_137439406	137428776	GGGGAGGG others(18): Show GGGGAGGGGCTGGGTGGGCAGACCGA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	404	0.0025	-25	c.370 others(38): Show c.370-99_370-75delGGCTGGGTGGGCAGACCGAGGGAGG		NOXA1	ENSG00000188747.9	transcript	ENST00000683555.1	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
NOXA1_chr9_137418393_137439406	137428783	GGCTGGGT others(18): Show GGCTGGGTGGGCAGACCGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	404	0.0025	-25	c.370 others(38): Show c.370-88_370-64delCAGACCGAGGGAGGAGCTGGGTGGG		NOXA1	ENSG00000188747.9	transcript	ENST00000683555.1	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
NPAS1_chr19_47014837_47050775	47033975	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG03209.hp2 HG02258.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0393 a0001c0002t0001g0394 a0001c0003t0001g0248 a0001c0002t0001g0393 a0001c0002t0001g0394 a0001c0003t0001g0248	3	418	0.0072	-25	c.522 others(42): Show c.522+1265_522+1289delAAAAAAAAAAAAAAAAAAAAAAAAA		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS1_chr19_47014837_47050775	47045036	AAACAAAA others(18): Show AAACAAAAAACAAAAACAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19240.hp2 HG02109.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0013 a0003c0015 a0001c0013 a0003c0015	a0001c0013t0001 a0003c0015t0001 a0001c0013t0001 a0003c0015t0001	a0001c0013t0001g0317 a0003c0015t0001g0414 a0001c0013t0001g0317 a0003c0015t0001g0414	2	418	0.0048	-25	c.131 others(42): Show c.1313-152_1313-128delCAAAAAACAAAAACAAAACAAACAA		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS3_chr14_32933879_33809173	33523824	CCCTGCTA others(18): Show CCCTGCTACAAAGAACCAGATCAGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0073 a0001c0001t0019g0073	1	92	0.0109	-25	c.469 others(44): Show c.469-36291_469-36267delTACAAAGAACCAGATCAGTGCCTGC		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33776521	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0057 a0001c0001t0027g0057	1	92	0.0109	-25	c.104 others(44): Show c.1047-1929_1047-1905delAAAAAAAAAAAAAAAAAAAAAAAAA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105773	GATGATGA others(18): Show GATGATGATGGGGGGTGATGATGGGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01943.hp1 HG02602.hp2 others(11): Show HG01243.hp2 HG01943.hp1 HG02602.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0009 a0001c0002t0043 others(1): Show a0001c0002t0008 a0001c0002t0009 a0001c0002t0043 a0001c0002t0044	a0001c0002t0008g0008 a0001c0002t0009g0010 a0001c0002t0043g0051 others(1): Show a0001c0002t0008g0008 a0001c0002t0009g0010 a0001c0002t0043g0051 a0001c0002t0044g0052	14	355	0.0394	-25	c.32 others(32): Show c.32_*56delGCCCATCATCACCCCCCATCATCAT		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				32		chr20	TogoVar
NPIPA8_chr16_18312919_18341736	18341413	GGGATGAG others(18): Show GGGATGAGGATGGGAATTGGGGGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	40	0.0250	-25	c.-51 others(36): Show c.-5131_-5107delGCTCCCCCAATTCCCATCCTCATCC		NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding					4678		chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21849446	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03831.hp2 HG03927.hp1 others(2): Show HG01981.hp1 HG03831.hp2 HG03927.hp1 NA18971.hp1 NA19012.hp2	a0004 a0008 a0061 a0004 a0008 a0061	a0004c0004 a0004c0027 a0008c0007 others(1): Show a0004c0004 a0004c0027 a0008c0007 a0061c0087	a0004c0004t0001 a0004c0027t0001 a0008c0007t0001 others(1): Show a0004c0004t0001 a0004c0027t0001 a0008c0007t0001 a0061c0087t0001	a0004c0004t0001g0148 a0004c0004t0001g0177 a0004c0027t0001g0090 others(2): Show a0004c0004t0001g0148 a0004c0004t0001g0177 a0004c0027t0001g0090 a0008c0007t0001g0081 a0061c0087t0001g0092	5	204	0.0245	-25	c.121 others(42): Show c.121-1930_121-1906delTTTTTTTTTTTTTTTTTTTTTTTTT		NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	2/7						chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28658374	TCCCGCTT others(18): Show TCCCGCTTCCACCCTCTCCTCTTCCA	T T	frameshift_variant frameshift_variant	HIGH	NA18943.hp2 NA18943.hp2	a0024 a0024	a0024c0046 a0024c0046	a0024c0046t0008 a0024c0046t0008	a0024c0046t0008g0061 a0024c0046t0008g0061	1	351	0.0029	-25	c.104 others(34): Show c.1047_1071delGCTTCCACCCTCTCCTCTTCCACCC	p.Leu others(5): Show p.Leu350fs	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	8/8	1171/1537	1047/1299	349/432		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPLOC4_chr17_81551887_81642112	81579862	ATGTGAGC others(18): Show ATGTGAGCTCACCCCCCATTCTCCTC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp2 HG01516.hp2 others(10): Show HG01081.hp2 HG01192.hp2 HG01516.hp2 HG01993.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG04199.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0013 a0001c0005 a0001c0013	a0001c0005t0004 a0001c0005t0009 a0001c0005t0034 others(8): Show a0001c0005t0004 a0001c0005t0009 a0001c0005t0034 a0001c0005t0035 a0001c0005t0058 a0001c0005t0063 a0001c0005t0072 a0001c0005t0088 a0001c0005t0108 a0001c0005t0129 a0001c0013t0002	a0001c0005t0004g0263 a0001c0005t0004g0271 a0001c0005t0009g0266 others(10): Show a0001c0005t0004g0263 a0001c0005t0004g0271 a0001c0005t0009g0266 a0001c0005t0009g0267 a0001c0005t0034g0264 a0001c0005t0035g0262 a0001c0005t0058g0268 a0001c0005t0063g0261 a0001c0005t0072g0260 a0001c0005t0088g0270 a0001c0005t0108g0265 a0001c0005t0129g0324 a0001c0013t0002g0269	13	344	0.0378	-25	c.128 others(44): Show c.1282-7799_1282-7775delGAGGAGAATGGGGGGTGAGCTCACA		NPLOC4	ENSG00000182446.15	transcript	ENST00000331134.11	protein_coding	12/16						chr17	TogoVar
NPTX1_chr17_80461834_80481607	80474331	CATTCCTG others(18): Show CATTCCTGGCCAGCAATGGGCACAGT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0203 a0001c0002t0015g0203	1	440	0.0023	-25	c.653 others(40): Show c.653-912_653-888delACTGTGCCCATTGCTGGCCAGGAAT		NPTX1	ENSG00000171246.7	transcript	ENST00000306773.5	protein_coding	2/4						chr17	TogoVar
NR0B1_chrX_30299206_30314390	30310777	CTTCCTTC others(18): Show CTTCCTTCCTTCCTTCCTTCCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	322	0.0031	-25	c.-14 others(36): Show c.-1439_-1415delAGGAAGGAAGGAAGGAAGGAAGGAA		NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding					1388		chrX	TogoVar
NR1H2_chr19_50371457_50388388	50376839	AGCATGAA others(18): Show AGCATGAATGGAGGAGGCGGGGCGGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02717.hp1 others(4): Show HG02257.hp1 HG02451.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0007 a0001c0019 a0001c0007 a0001c0019	a0001c0007t0004 a0001c0019t0007 a0001c0007t0004 a0001c0019t0007	a0001c0007t0004g0011 a0001c0007t0004g0026 a0001c0019t0007g0027 a0001c0007t0004g0011 a0001c0007t0004g0026 a0001c0019t0007g0027	7	374	0.0187	-25	c.-20 others(38): Show c.-20+20_-20+44delATGGAGGAGGCGGGGCGGGGCATGA		NR1H2	ENSG00000131408.15	transcript	ENST00000253727.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NR1H4_chr12_100468866_100569414	100485835	CTAGTTCA others(18): Show CTAGTTCATTTTATAGTCATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	308	0.0033	-25	c.-18 others(44): Show c.-189-6660_-189-6636delTTTTATAGTCATTTATTTTAGTTCA		NR1H4	ENSG00000012504.15	transcript	ENST00000392986.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
NR2F1_chr5_93578222_93599611	93581723	TCTCTCTC others(18): Show TCTCTCTCTCTCCCCCTCTCCCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	294	0.0034	-25	c.-33 others(36): Show c.-3300_-3276delCTCTCTCTCTCCCCCTCTCCCTCTC		NR2F1	ENSG00000175745.15	transcript	ENST00000327111.8	protein_coding					1498		chr5	TogoVar
NR5A1_chr9_124476236_124512399	124510435	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	356	0.0028	-25	c.-32 others(36): Show c.-3227_-3203delATATATTTTTTTTTTTTTTTTTTTT		NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding					3037		chr9	TogoVar
NR5A1_chr9_124476236_124512399	124510437	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	356	0.0028	-25	c.-32 others(36): Show c.-3229_-3205delATATATATTTTTTTTTTTTTTTTTT		NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding					3039		chr9	TogoVar
NR5A1_chr9_124476236_124512399	124510445	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02027.hp2 HG00544.hp1 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0218 a0002c0002t0003g0008 a0002c0002t0001g0218 a0002c0002t0003g0008	2	356	0.0056	-25	c.-32 others(36): Show c.-3237_-3213delATATATATATATATATTTTTTTTTT		NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding					3047		chr9	TogoVar
NRBP1_chr2_27423631_27447259	27427287	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	276	0.0036	-25	c.-14 others(36): Show c.-1464_-1440delTATATATATATATATATATATATAT		NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding					1343		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427289	ATATATAT others(18): Show ATATATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	276	0.0036	-25	c.-14 others(36): Show c.-1462_-1438delTATATATATATATATATATATATTT		NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding					1341		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427295	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	276	0.0036	-25	c.-14 others(36): Show c.-1456_-1432delTATATATATATATATATTTTTTTTT		NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding					1335		chr2	TogoVar
NRBP1_chr2_27423631_27447259	27427299	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	276	0.0036	-25	c.-14 others(36): Show c.-1452_-1428delTATATATATATATTTTTTTTTTTTT		NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding					1331		chr2	TogoVar
NRIP3_chr11_8975576_9009001	8978420	GGGCTCCT others(18): Show GGGCTCCTCTGCCCGGCCGCCCCTAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0014 a0002c0003t0003g0014	1	406	0.0025	-25	c.51 others(36): Show c.5100_*5124delGTAGGGGCGGCCGGGCAGAGGAGCC		NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding					2155		chr11	TogoVar
NRROS_chr3_196634694_196667004	196662200	CGACGACA others(18): Show CGACGACACAAGGATTTCATAGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0055 a0007c0011t0002g0055	1	472	0.0021	-25	c.47 others(34): Show c.479_*503delGACGACACAAGGATTTCATAGCAGG		NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding					197		chr3	TogoVar
NRXN1_chr2_49913503_51037132	50399789	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp1 HG01517.hp1 others(5): Show HG01099.hp1 HG01346.hp1 HG01517.hp1 HG02145.hp2 HG02886.hp1 HG03225.hp1 HG06807.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0024 a0001c0002t0045	a0001c0001t0001g0055 a0001c0001t0002g0047 a0001c0001t0004g0010 others(5): Show a0001c0001t0001g0055 a0001c0001t0002g0047 a0001c0001t0004g0010 a0001c0001t0008g0057 a0001c0001t0009g0030 a0001c0001t0017g0066 a0001c0001t0024g0014 a0001c0002t0045g0087	8	116	0.0690	-25	c.336 others(46): Show c.3364+65628_3364+65652delTTTTTTTTTTTTTTTTTTTTTTTT T		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50495355	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01109.hp2 others(29): Show HG00438.hp2 HG00609.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01261.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG02055.hp2 HG02132.hp1 HG02258.hp1 HG02523.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA19012.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0032 a0001c0001t0037 a0001c0001t0039 a0001c0001t0064 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0013 a0001c0002t0049 a0001c0002t0050 a0001c0005t0030 a0002c0006t0031	a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0053 others(29): Show a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0053 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0003g0020 a0001c0001t0003g0029 a0001c0001t0004g0015 a0001c0001t0006g0023 a0001c0001t0006g0027 a0001c0001t0006g0032 a0001c0001t0006g0054 a0001c0001t0009g0041 a0001c0001t0011g0115 a0001c0001t0012g0001 a0001c0001t0013g0081 a0001c0001t0017g0065 a0001c0001t0017g0066 a0001c0001t0023g0005 a0001c0001t0032g0007 a0001c0001t0037g0050 a0001c0001t0039g0044 a0001c0001t0064g0071 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0003g0094 a0001c0002t0007g0089 a0001c0002t0013g0110 a0001c0002t0049g0082 a0001c0002t0050g0107 a0001c0005t0030g0016 a0002c0006t0031g0019	32	116	0.2759	-25	c.307 others(42): Show c.3070+525_3070+549delCACACACACACACACACACACACAC		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	15/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50826732	GGAGAATG others(18): Show GGAGAATGGATAGCTCTGTTTTGGTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp1 HG00438.hp2 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0054 a0001c0002t0007 a0001c0002t0054	a0001c0002t0007g0089 a0001c0002t0054g0092 a0001c0002t0007g0089 a0001c0002t0054g0092	2	116	0.0172	-25	c.832 others(44): Show c.832+95112_832+95136delGACCAAAACAGAGCTATCCATTCTC		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22						chr2	TogoVar
NRXN3_chr14_78165373_79873291	79020191	TCCCTCCC others(18): Show TCCCTCCCCTCCCCTCCCCTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp2 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0011 a0001c0001t0013 a0001c0002t0011	a0001c0001t0013g0007 a0001c0002t0011g0016 a0001c0001t0013g0007 a0001c0002t0011g0016	2	24	0.0833	-25	c.326 others(46): Show c.3262+32105_3262+32129delCCCCTCCCCTCCCCTCCCCTCCCC T		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177158277	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0065 a0004c0029t0065	a0004c0029t0065g0146 a0004c0029t0065g0146	1	298	0.0034	-25	c.927 others(44): Show c.927+22259_927+22283delCTTTCTTTCTTTCTTTTCTTTCTTT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177279961	ATATTTTA others(18): Show ATATTTTATTTTATTTTATTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02015.hp1 HG02109.hp1 others(16): Show HG00733.hp1 HG02015.hp1 HG02109.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp2 HG03490.hp1 HG03491.hp2 HG03710.hp1 HG04115.hp1 NA18906.hp1 NA18975.hp2 NA19076.hp1	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0014	a0003c0006 a0003c0031 a0005c0007 others(2): Show a0003c0006 a0003c0031 a0005c0007 a0006c0008 a0014c0030	a0003c0006t0009 a0003c0006t0071 a0003c0031t0009 others(4): Show a0003c0006t0009 a0003c0006t0071 a0003c0031t0009 a0005c0007t0015 a0006c0008t0021 a0006c0008t0062 a0014c0030t0064	a0003c0006t0009g0013 a0003c0006t0009g0158 a0003c0006t0009g0160 others(16): Show a0003c0006t0009g0013 a0003c0006t0009g0158 a0003c0006t0009g0160 a0003c0006t0009g0163 a0003c0006t0009g0164 a0003c0006t0009g0165 a0003c0006t0009g0166 a0003c0006t0009g0167 a0003c0006t0071g0159 a0003c0031t0009g0154 a0005c0007t0015g0003 a0005c0007t0015g0004 a0005c0007t0015g0005 a0005c0007t0015g0006 a0006c0008t0021g0142 a0006c0008t0021g0143 a0006c0008t0021g0145 a0006c0008t0062g0144 a0014c0030t0064g0153	19	298	0.0638	-25	c.562 others(42): Show c.5623-572_5623-548delATTTTATTTTATTTTATTTTATTTT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSL1_chr1_212721153_212796777	212724212	CCTCTCCA others(18): Show CCTCTCCACGGTCTCCCTCTCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0122 a0002c0002t0122	a0002c0002t0122g0274 a0002c0002t0122g0274	1	364	0.0028	-25	c.14 others(38): Show c.14171_*14195delAGAGGGAGAGGGAGACCGTGGAGAG		NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding					1940		chr1	TogoVar
NSMCE2_chr8_125086860_125372120	125320230	GGGAAGGG others(18): Show GGGAAGGGAGGGAGGGAGGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	244	0.0041	-25	c.419 others(44): Show c.419-36982_419-36958delGAGGGAGGGAGGGAGGGAAGGAAGG		NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
NSUN5_chr7_73297516_73313826	73311095	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	420	0.0024	-25	c.-23 others(36): Show c.-2330_-2306delTTTTTTTTTTTTTTTTTTTTTTTTT		NSUN5	ENSG00000130305.17	transcript	ENST00000438747.7	protein_coding					2270		chr7	TogoVar
NT5C1A_chr1_39646229_39677107	39658165	ACACTGAG others(18): Show ACACTGAGCAGGCAGCTACTAATGCT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0241 a0001c0001t0118g0241	1	326	0.0031	-25	c.93 others(34): Show c.931_*955delAGCATTAGTAGCTGCCTGCTCAGTG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	6/6				931		chr1	TogoVar
NT5C2_chr10_103083038_103198272	103129417	CCTACTGG others(18): Show CCTACTGGGAAGTGAGGAGCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0188 a0001c0002t0006g0188	1	340	0.0029	-25	c.175 others(42): Show c.175+9964_175+9988delTGAGGGGCTCCTCACTTCCCAGTAG		NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18						chr10	TogoVar

Search by Variant

Search

Search Results (Total: 4527 hits)