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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NLRP12_chr19_53788741_53829314	53819441	ATATATAT others(17): Show ATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	416	0.0024	-24	c.289 others(41): Show c.289+4421_289+4444delCACACACATATATATATATATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53822037	GTGGAAGC others(17): Show GTGGAAGCTAAACATTGGGTTCTCA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0018 a0018	a0018c0019 a0018c0019	a0018c0019t0003 a0018c0019t0003	a0018c0019t0003g0006 a0018c0019t0003g0006	1	416	0.0024	-24	c.289 others(41): Show c.289+1825_289+1848delTGAGAACCCAATGTTTAGCTTCCA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53823304	GTATATTT others(17): Show GTATATTTATATAATAAATATATAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02615.hp2 others(4): Show HG01884.hp2 HG02145.hp2 HG02615.hp2 HG02809.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp1	a0002 a0012 a0020 a0002 a0012 a0020	a0002c0009 a0012c0037 a0020c0032 a0002c0009 a0012c0037 a0020c0032	a0002c0009t0002 a0012c0037t0002 a0020c0032t0002 a0002c0009t0002 a0012c0037t0002 a0020c0032t0002	a0002c0009t0002g0151 a0002c0009t0002g0153 a0002c0009t0002g0154 others(4): Show a0002c0009t0002g0151 a0002c0009t0002g0153 a0002c0009t0002g0154 a0002c0009t0002g0155 a0002c0009t0002g0222 a0012c0037t0002g0152 a0020c0032t0002g0156	7	416	0.0168	-24	c.289 others(39): Show c.289+558_289+581delGTATATATTTATTATATAAATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53826038	GACACACA others(17): Show GACACACACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02615.hp1 others(2): Show HG01109.hp1 HG02280.hp2 HG02615.hp1 HG02630.hp1 HG03486.hp2	a0002 a0012 a0002 a0012	a0002c0005 a0002c0006 a0012c0033 a0002c0005 a0002c0006 a0012c0033	a0002c0005t0002 a0002c0006t0002 a0012c0033t0002 a0002c0005t0002 a0002c0006t0002 a0012c0033t0002	a0002c0005t0002g0158 a0002c0005t0002g0160 a0002c0005t0002g0163 others(2): Show a0002c0005t0002g0158 a0002c0005t0002g0160 a0002c0005t0002g0163 a0002c0006t0002g0216 a0012c0033t0002g0157	5	416	0.0120	-24	c.-18 others(35): Show c.-1888_-1865delGTGTGTGTGTGTGTGTGTGTGTGT	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding		1725		chr19	TogoVar
NLRP13_chr19_55890945_55937336	55905454	CATATATA others(17): Show CATATATACACACATATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00609.hp2 others(62): Show HG00280.hp1 HG00597.hp1 HG00609.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01168.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp2 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18977.hp1 NA18978.hp1 NA18982.hp2 NA18983.hp1 NA18993.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19063.hp2 NA19068.hp1 NA19075.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0016	a0001c0001 a0001c0004 a0001c0010 others(9): Show a0001c0001 a0001c0004 a0001c0010 a0001c0020 a0001c0028 a0001c0033 a0001c0037 a0001c0052 a0003c0006 a0010c0054 a0010c0055 a0016c0051	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 others(9): Show a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0001c0020t0001 a0001c0028t0001 a0001c0033t0001 a0001c0037t0001 a0001c0052t0001 a0003c0006t0001 a0010c0054t0001 a0010c0055t0001 a0016c0051t0001	a0001c0001t0001g0349 a0001c0001t0001g0355 a0001c0001t0001g0356 others(61): Show a0001c0001t0001g0349 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0004t0001g0008 a0001c0004t0001g0105 a0001c0004t0001g0106 a0001c0004t0001g0150 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0166 a0001c0004t0001g0168 a0001c0004t0001g0171 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0185 a0001c0004t0001g0187 a0001c0004t0001g0195 a0001c0004t0001g0196 a0001c0004t0001g0197 a0001c0004t0001g0199 a0001c0004t0001g0200 a0001c0004t0001g0220 a0001c0004t0001g0221 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0229 a0001c0004t0001g0230 a0001c0004t0001g0232 a0001c0004t0001g0233 a0001c0004t0001g0235 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0001g0241 a0001c0004t0001g0242 a0001c0004t0001g0243 a0001c0004t0001g0244 a0001c0004t0001g0245 a0001c0004t0001g0286 a0001c0004t0001g0323 a0001c0010t0001g0152 a0001c0010t0001g0156 a0001c0010t0001g0169 a0001c0010t0001g0170 a0001c0010t0001g0189 a0001c0010t0001g0198 a0001c0010t0001g0219 a0001c0010t0001g0222 a0001c0010t0001g0225 a0001c0020t0001g0015 a0001c0020t0001g0064 a0001c0028t0001g0190 a0001c0028t0001g0191 a0001c0033t0001g0052 a0001c0037t0001g0104 a0001c0052t0001g0188 a0003c0006t0001g0350 a0003c0006t0001g0368 a0010c0054t0001g0416 a0010c0055t0001g0415 a0016c0051t0001g0213	65	440	0.1477	-24	c.244 others(41): Show c.2448-366_2448-343delATATGTATATATGTGTGTATATAT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	7/10			chr19	TogoVar
NLRP2B_chrX_57672067_57685260	57682131	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01167.hp1 others(22): Show HG00738.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01884.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0026	a0001c0001t0003g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 others(2): Show a0001c0001t0003g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0015g0000 a0001c0001t0026g0000	25	340	0.0735	-24	c.-18 others(35): Show c.-1895_-1872delAAAAAAAAAAAAAAAAAAAAAAAA	NLRP2B	ENSG00000215174.2	transcript	ENST00000434992.1	protein_coding		1872		chrX	TogoVar
NLRP2_chr19_54961374_55006138	55006104	AAGTAAGA others(17): Show AAGTAAGAAGACAGGAAGTGGTTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18979.hp1 NA19004.hp1 others(5): Show NA18955.hp1 NA18979.hp1 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19058.hp2 NA19084.hp2	a0002 a0004 a0002 a0004	a0002c0037 a0004c0007 a0002c0037 a0004c0007	a0002c0037t0005 a0004c0007t0003 a0002c0037t0005 a0004c0007t0003	a0002c0037t0005g0142 a0004c0007t0003g0007 a0004c0007t0003g0341 others(5): Show a0002c0037t0005g0142 a0004c0007t0003g0007 a0004c0007t0003g0341 a0004c0007t0003g0342 a0004c0007t0003g0343 a0004c0007t0003g0345 a0004c0007t0003g0347 a0004c0007t0003g0412	8	429	0.0187	-24	c.52 others(35): Show c.5207_*5230delAGTAAGAAGACAGGAAGTGGTTGT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding		4967		chr19	TogoVar
NLRP5_chr19_55994726_56066810	56031067	AACGTGGG others(17): Show AACGTGGGAAGGTATACACTCAGAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00597.hp2 others(70): Show HG00099.hp1 HG00544.hp1 HG00597.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18967.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19062.hp2 NA19067.hp2 NA19079.hp2 NA19082.hp1 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012 a0014 a0023 a0034 a0038	a0001c0001 a0001c0002 a0001c0015 others(24): Show a0001c0001 a0001c0002 a0001c0015 a0001c0022 a0001c0052 a0001c0082 a0001c0084 a0001c0086 a0001c0121 a0001c0124 a0001c0132 a0002c0012 a0002c0031 a0002c0087 a0003c0024 a0003c0043 a0003c0122 a0004c0055 a0005c0025 a0005c0083 a0006c0081 a0007c0032 a0012c0018 a0014c0102 a0023c0057 a0034c0066 a0038c0120	a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 others(24): Show a0001c0001t0001 a0001c0002t0001 a0001c0015t0001 a0001c0022t0001 a0001c0052t0001 a0001c0082t0001 a0001c0084t0001 a0001c0086t0001 a0001c0121t0001 a0001c0124t0001 a0001c0132t0001 a0002c0012t0002 a0002c0031t0002 a0002c0087t0002 a0003c0024t0001 a0003c0043t0001 a0003c0122t0001 a0004c0055t0001 a0005c0025t0001 a0005c0083t0001 a0006c0081t0002 a0007c0032t0001 a0012c0018t0002 a0014c0102t0002 a0023c0057t0004 a0034c0066t0001 a0038c0120t0002	a0001c0001t0001g0091 a0001c0001t0001g0386 a0001c0001t0001g0387 others(70): Show a0001c0001t0001g0091 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0002t0001g0010 a0001c0002t0001g0032 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0108 a0001c0002t0001g0148 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0241 a0001c0002t0001g0320 a0001c0002t0001g0393 a0001c0015t0001g0002 a0001c0015t0001g0045 a0001c0015t0001g0046 a0001c0015t0001g0084 a0001c0022t0001g0273 a0001c0022t0001g0274 a0001c0052t0001g0026 a0001c0082t0001g0168 a0001c0084t0001g0053 a0001c0086t0001g0018 a0001c0121t0001g0290 a0001c0124t0001g0331 a0001c0132t0001g0242 a0002c0012t0002g0003 a0002c0012t0002g0014 a0002c0012t0002g0031 a0002c0012t0002g0055 a0002c0012t0002g0057 a0002c0012t0002g0223 a0002c0012t0002g0240 a0002c0012t0002g0383 a0002c0031t0002g0058 a0002c0031t0002g0071 a0002c0087t0002g0024 a0003c0024t0001g0052 a0003c0024t0001g0070 a0003c0024t0001g0239 a0003c0043t0001g0195 a0003c0122t0001g0276 a0004c0055t0001g0301 a0004c0055t0001g0323 a0005c0025t0001g0078 a0005c0025t0001g0132 a0005c0025t0001g0150 a0005c0025t0001g0222 a0005c0083t0001g0121 a0006c0081t0002g0221 a0007c0032t0001g0327 a0012c0018t0002g0152 a0014c0102t0002g0287 a0023c0057t0004g0360 a0034c0066t0001g0219 a0038c0120t0002g0278	73	396	0.1843	-24	c.227 others(43): Show c.2277-1528_2277-1505delCACTCAGACACGTGGGAAGGTATA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957673	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp2 HG01934.hp1 others(11): Show HG01099.hp1 HG01255.hp2 HG01934.hp1 HG01981.hp2 HG02055.hp2 HG02258.hp2 HG02735.hp2 HG03017.hp1 HG03041.hp2 HG03579.hp1 NA18951.hp2 NA18962.hp2 NA19074.hp1 NA19079.hp1	a0000 a0001 a0006 others(1): Show a0000 a0001 a0006 a0007	a0000c0001 a0000c0002 a0000c0003 others(7): Show a0000c0001 a0000c0002 a0000c0003 a0000c0007 a0000c0008 a0000c0035 a0001c0005 a0006c0018 a0007c0024 a0007c0047	a0000c0001t0007 a0000c0001t0012 a0000c0001t0015 others(10): Show a0000c0001t0007 a0000c0001t0012 a0000c0001t0015 a0000c0002t0001 a0000c0003t0002 a0000c0003t0040 a0000c0007t0005 a0000c0008t0011 a0000c0035t0006 a0001c0005t0009 a0006c0018t0010 a0007c0024t0018 a0007c0047t0009	a0000c0001t0007g0291 a0000c0001t0012g0090 a0000c0001t0015g0042 others(11): Show a0000c0001t0007g0291 a0000c0001t0012g0090 a0000c0001t0015g0042 a0000c0001t0015g0292 a0000c0002t0001g0294 a0000c0003t0002g0143 a0000c0003t0040g0078 a0000c0007t0005g0293 a0000c0008t0011g0048 a0000c0035t0006g0226 a0001c0005t0009g0102 a0006c0018t0010g0248 a0007c0024t0018g0076 a0007c0047t0009g0077	14	350	0.0400	-24	c.204 others(43): Show c.2042+1602_2042+1625delTATATATATATATATATATATATA	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55986442	ACTCTCTC others(17): Show ACTCTCTCTCTCACACACACACTCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG02055.hp2 others(5): Show HG00099.hp1 HG00741.hp2 HG02055.hp2 HG02145.hp1 HG03139.hp2 HG03195.hp2 NA19060.hp2 NA19240.hp2	a0000 a0000	a0000c0001 a0000c0004 a0000c0007 others(1): Show a0000c0001 a0000c0004 a0000c0007 a0000c0021	a0000c0001t0007 a0000c0001t0012 a0000c0001t0015 others(3): Show a0000c0001t0007 a0000c0001t0012 a0000c0001t0015 a0000c0004t0012 a0000c0007t0005 a0000c0021t0036	a0000c0001t0007g0295 a0000c0001t0012g0029 a0000c0001t0015g0058 others(5): Show a0000c0001t0007g0295 a0000c0001t0012g0029 a0000c0001t0015g0058 a0000c0001t0015g0065 a0000c0004t0012g0213 a0000c0007t0005g0266 a0000c0007t0005g0293 a0000c0021t0036g0160	8	350	0.0229	-24	c.304 others(43): Show c.3048-1368_3048-1345delTCTCTCTCACACACACACTCTCTC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NMBR_chr6_142069484_142152122	142125421	CCATATAC others(17): Show CCATATACACATATACATGTGCATG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0163 a0001c0001t0006g0164	2	330	0.0061	-24	c.-66 others(45): Show c.-664+21599_-664+21622delCATGCACATGTATATGTGTATATG	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	1/3			chr6	TogoVar
NME7_chr1_169127531_169372797	169258393	TATATATA others(17): Show TATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	302	0.0033	-24	c.755 others(43): Show c.755-20730_755-20707delGTGTGTGTGTGTATATATATATAT	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	7/11			chr1	TogoVar
NME8_chr7_37843597_37905397	37848225	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	388	0.0026	-24	c.-74 others(33): Show c.-743_-720delAGAAGAAGAAGAAGAAGAAGGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		371		chr7	TogoVar
NME8_chr7_37843597_37905397	37882585	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01175.hp1 others(8): Show HG00738.hp1 HG00738.hp2 HG01175.hp1 HG01496.hp1 HG03490.hp2 NA18944.hp1 NA18949.hp2 NA18975.hp2 NA18988.hp1 NA19000.hp1 NA20752.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0008	a0001c0001 a0003c0003 a0005c0006 others(3): Show a0001c0001 a0003c0003 a0005c0006 a0005c0014 a0006c0011 a0008c0013	a0001c0001t0004 a0003c0003t0002 a0005c0006t0002 others(3): Show a0001c0001t0004 a0003c0003t0002 a0005c0006t0002 a0005c0014t0002 a0006c0011t0002 a0008c0013t0002	a0001c0001t0004g0253 a0003c0003t0002g0025 a0003c0003t0002g0330 others(7): Show a0001c0001t0004g0253 a0003c0003t0002g0025 a0003c0003t0002g0330 a0005c0006t0002g0279 a0005c0006t0002g0289 a0005c0006t0002g0309 a0005c0014t0002g0281 a0005c0014t0002g0290 a0006c0011t0002g0310 a0008c0013t0002g0313	11	388	0.0284	-24	c.995 others(41): Show c.995-1714_995-1691delAAGAAAGAAAGAGAGAGAGAGAGA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
NME8_chr7_37843597_37905397	37882589	AAGAAAGA others(17): Show AAGAAAGAAAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00733.hp1 others(13): Show HG00558.hp1 HG00621.hp1 HG00733.hp1 HG01975.hp1 HG01981.hp2 NA18949.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0002c0008 a0004c0005 a0005c0024	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0004t0003 a0002c0002t0001 a0002c0008t0001 a0004c0005t0001 a0005c0024t0002	a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0172 others(13): Show a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0172 a0001c0001t0004g0242 a0001c0001t0004g0255 a0001c0001t0004g0262 a0001c0004t0001g0165 a0001c0004t0003g0050 a0001c0004t0003g0069 a0002c0002t0001g0181 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0008t0001g0209 a0004c0005t0001g0102 a0005c0024t0002g0297	16	388	0.0412	-24	c.995 others(41): Show c.995-1702_995-1679delGAGAGAGAGAGAGAGAAAGAAAGA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
NMI_chr2_151265470_151294668	151285356	GAGATAGA others(17): Show GAGATAGATAGATAGATAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(11): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG03704.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp2 NA18955.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA19000.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0236 a0001c0001t0003g0010 a0001c0001t0003g0037 others(6): Show a0001c0001t0001g0236 a0001c0001t0003g0010 a0001c0001t0003g0037 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0121	14	410	0.0342	-24	c.-6- others(39): Show c.-6-2426_-6-2403delATCTATCTATCTATCTATCTATCT	NMI	ENSG00000123609.11	transcript	ENST00000243346.10	protein_coding	1/7			chr2	TogoVar
NMNAT2_chr1_183243237_183423380	183273841	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02523.hp1 HG02647.hp2 others(9): Show HG02280.hp2 HG02523.hp1 HG02647.hp2 HG03209.hp1 NA18946.hp1 NA18950.hp1 NA18980.hp1 NA18983.hp1 NA19000.hp1 NA19010.hp2 NA19012.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0023 others(3): Show a0001c0001t0007 a0001c0001t0017 a0001c0001t0023 a0001c0001t0059 a0001c0001t0060 a0001c0001t0066	a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0021 others(9): Show a0001c0001t0007g0019 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0069 a0001c0001t0007g0183 a0001c0001t0007g0244 a0001c0001t0017g0002 a0001c0001t0023g0147 a0001c0001t0059g0162 a0001c0001t0060g0048 a0001c0001t0066g0116	12	258	0.0465	-24	c.651 others(41): Show c.651+4688_651+4711delAAGGAAGGAAGGAAGGAAGGAAGG	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	8/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183295985	ATTACAGG others(17): Show ATTACAGGCGCCTACCACCATGCCC	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0224 a0001c0003t0015g0224	1	258	0.0039	-24	c.86- others(39): Show c.86-2216_86-2193delGGGCATGGTGGTAGGCGCCTGTAA	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183370223	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp2 HG01891.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0082 a0001c0001t0033g0246 a0001c0001t0002g0082 a0001c0001t0033g0246	2	258	0.0078	-24	c.85+ others(41): Show c.85+47936_85+47959delGTGTGTGTGTGTGTGTGTGTGTGT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183389736	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01516.hp2 others(9): Show HG00738.hp1 HG01099.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG02148.hp1 HG02965.hp2 HG03139.hp2 NA18945.hp2 NA18970.hp1 NA19012.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0057 a0001c0001t0058	a0001c0001t0001g0140 a0001c0001t0004g0152 a0001c0001t0006g0195 others(9): Show a0001c0001t0001g0140 a0001c0001t0004g0152 a0001c0001t0006g0195 a0001c0001t0006g0202 a0001c0001t0007g0020 a0001c0001t0008g0121 a0001c0001t0008g0122 a0001c0001t0012g0215 a0001c0001t0017g0173 a0001c0001t0021g0083 a0001c0001t0057g0249 a0001c0001t0058g0237	12	258	0.0465	-24	c.85+ others(41): Show c.85+28423_85+28446delCTTTCTTTCTTTCTTTCTTTCTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139596916	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp2 HG01192.hp1 others(69): Show HG00438.hp1 HG01099.hp2 HG01192.hp1 HG01243.hp1 HG01433.hp2 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0100 a0001c0001t0001g0101 others(68): Show a0001c0001t0001g0005 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0005g0007 a0001c0001t0008g0299 a0001c0001t0010g0232 a0001c0003t0001g0104 a0001c0003t0001g0193	72	322	0.2236	-24	c.110 others(43): Show c.110-17885_110-17862delTATATATATATATATATATATATA	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6			chr3	TogoVar
NMRK1_chr9_75055577_75093155	75060860	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00639.hp2 others(95): Show HG00280.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02074.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18950.hp2 NA18953.hp2 NA18955.hp2 NA18959.hp2 NA18968.hp1 NA18970.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp2 NA19003.hp2 NA19030.hp2 NA19056.hp2 NA19062.hp1 NA19065.hp2 NA19067.hp2 NA19078.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0001t0037 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(50): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0209 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0132 a0001c0001t0008g0205 a0001c0001t0008g0208 a0001c0001t0008g0224 a0001c0001t0020g0059 a0001c0001t0020g0060 a0001c0001t0037g0062 a0001c0002t0001g0019 a0001c0002t0001g0031 a0001c0002t0001g0165 a0001c0002t0008g0035 a0001c0002t0008g0070 a0001c0002t0008g0125	98	418	0.2345	-24	c.66 others(33): Show c.664_*687delGTGTGTGTGTGTGTGTGTGTGTGT	NMRK1	ENSG00000106733.21	transcript	ENST00000361092.9	protein_coding	9/9	664		chr9	TogoVar
NMT2_chr10_15100770_15173693	15112202	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0130 a0001c0002t0019g0131 a0001c0002t0019g0130 a0001c0002t0019g0131	2	276	0.0073	-24	c.133 others(41): Show c.1338+570_1338+593delAAAAAAAAAATATATATATATATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15112208	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0001 a0001c0001t0023g0001	1	276	0.0036	-24	c.133 others(41): Show c.1338+564_1338+587delAAAAAAAAAAAAAAAATATATATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15139863	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02258.hp2 HG00738.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0010 a0001c0001t0001 a0001c0002t0010	a0001c0001t0001g0075 a0001c0002t0010g0090 a0001c0001t0001g0075 a0001c0002t0010g0090	2	276	0.0073	-24	c.246 others(41): Show c.246+1535_246+1558delTATATATATATATATATATATATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	2/11			chr10	TogoVar
NOC2L_chr1_939203_964256	945744	GCCCCATG others(17): Show GCCCCATGTGGCCAATTTCTAGTCC	G G	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	422	0.0024	-24	c.191 others(40): Show c.1918-115_1918-92delGGACTAGAAATTGGCCACATGGGG	NOC2L	ENSG00000188976.11	transcript	ENST00000327044.7	protein_coding	16/18			chr1	TogoVar
NOC4L_chr12_132139457_132157468	132156589	TACACCAC others(17): Show TACACCACTACACACACCACTACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG02970.hp2 others(3): Show HG02559.hp2 HG02630.hp1 HG02970.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0003 a0001c0001t0001 a0001c0004t0001 a0002c0002t0003	a0001c0001t0001g0168 a0001c0001t0001g0281 a0001c0001t0001g0284 others(3): Show a0001c0001t0001g0168 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0004t0001g0282 a0002c0002t0003g0186	6	294	0.0204	-24	c.41 others(35): Show c.4189_*4212delACACCACTACACACACCACTACAC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4122		chr12	TogoVar
NOL3_chr16_67165538_67180737	67176054	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02602.hp2 HG02630.hp1 others(1): Show HG02145.hp1 HG02602.hp2 HG02630.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0056 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0056	4	298	0.0134	-24	c.10 others(35): Show c.1001_*1024delGTGTGTGTGTGTGTGTGTGTGTGT	NOL3	ENSG00000140939.15	transcript	ENST00000564992.2	protein_coding		318		chr16	TogoVar
NOL4L_chr20_32438059_32590333	32488803	CTTTTTCT others(17): Show CTTTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01071.hp2 others(7): Show HG00323.hp1 HG00741.hp1 HG01071.hp2 HG01109.hp2 HG01358.hp1 HG01496.hp1 HG02109.hp1 HG02717.hp2 HG03130.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0026	a0001c0001t0001g0147 a0001c0001t0001g0176 a0001c0001t0002g0030 others(7): Show a0001c0001t0001g0147 a0001c0001t0001g0176 a0001c0001t0002g0030 a0001c0001t0002g0157 a0001c0001t0003g0072 a0001c0001t0005g0091 a0001c0001t0007g0152 a0001c0001t0010g0056 a0001c0001t0014g0054 a0001c0001t0026g0006	10	196	0.0510	-24	c.700 others(43): Show c.700-14085_700-14062delAAGAAAGAAAGAAAGAAAGAAAAA	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL6_chr9_33456353_33478924	33475160	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0025 a0001c0008t0025	a0001c0008t0025g0093 a0001c0008t0025g0093	1	438	0.0023	-24	c.-13 others(35): Show c.-1342_-1319delAAAAAAAAAAAATATATATATATA	NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding		1237		chr9	TogoVar
NOL9_chr1_6516347_6559513	6547950	ATCATAGG others(17): Show ATCATAGGCTTCCTACAATACACCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	340	0.0029	-24	c.744 others(41): Show c.744+1597_744+1620delCGGTGTATTGTAGGAAGCCTATGA	NOL9	ENSG00000162408.11	transcript	ENST00000377705.6	protein_coding	3/11			chr1	TogoVar
NOLC1_chr10_102147389_102168870	102165414	TAAAAAAT others(17): Show TAAAAAATACAAAAATTAGCTGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	-24	c.31 others(35): Show c.3146_*3169delAAAAAATACAAAAATTAGCTGGGC	NOLC1	ENSG00000166197.17	transcript	ENST00000605788.6	protein_coding		1545		chr10	TogoVar
NOS1AP_chr1_162064691_162375475	162289256	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01934.hp1 HG02055.hp2 others(10): Show HG00741.hp1 HG01934.hp1 HG02055.hp2 HG02896.hp1 HG02922.hp1 HG03209.hp2 HG03453.hp1 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0010 a0001c0004t0003 a0001c0005t0007	a0001c0001t0002g0057 a0001c0001t0002g0082 a0001c0001t0003g0099 others(10): Show a0001c0001t0002g0057 a0001c0001t0002g0082 a0001c0001t0003g0099 a0001c0001t0005g0176 a0001c0001t0016g0096 a0001c0001t0019g0062 a0001c0002t0001g0134 a0001c0002t0002g0033 a0001c0003t0003g0050 a0001c0003t0005g0136 a0001c0003t0010g0090 a0001c0004t0003g0058 a0001c0005t0007g0063	13	182	0.0714	-24	c.270 others(41): Show c.270+1822_270+1845delTTCCTTCCTTCCTTCCTTCCTTTC	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162294173	TAGGAAGG others(17): Show TAGGAAGGAAGGAAGGAAGGAAGTA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02451.hp1 HG01106.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0030 a0001c0004t0003 a0001c0001t0030 a0001c0004t0003	a0001c0001t0030g0034 a0001c0004t0003g0159 a0001c0001t0030g0034 a0001c0004t0003g0159	2	182	0.0110	-24	c.271 others(41): Show c.271-6437_271-6414delTAAGGAAGGAAGGAAGGAAGGAAG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162319796	GCTGAGGG others(17): Show GCTGAGGGCTCCCAGGGACACTGCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02738.hp2 HG03831.hp1 others(1): Show HG00639.hp1 HG02738.hp2 HG03831.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0022 a0001c0003t0006 a0001c0001t0001 a0001c0001t0022 a0001c0003t0006	a0001c0001t0001g0131 a0001c0001t0022g0129 a0001c0003t0006g0012 others(1): Show a0001c0001t0001g0131 a0001c0001t0022g0129 a0001c0003t0006g0012 a0001c0003t0006g0114	4	182	0.0220	-24	c.345 others(43): Show c.345-13217_345-13194delAGGGCTCCCAGGGACACTGCACTG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117260118	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAACAAAAAACA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02723.hp2 others(5): Show HG02451.hp2 HG02486.hp1 HG02723.hp2 HG02818.hp2 HG03041.hp2 HG03540.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0014 others(2): Show a0001c0001 a0001c0006 a0001c0014 a0001c0015 a0001c0022	a0001c0001t0050 a0001c0001t0090 a0001c0001t0091 others(5): Show a0001c0001t0050 a0001c0001t0090 a0001c0001t0091 a0001c0006t0093 a0001c0014t0073 a0001c0015t0054 a0001c0015t0169 a0001c0022t0131	a0001c0001t0050g0008 a0001c0001t0090g0099 a0001c0001t0091g0082 others(5): Show a0001c0001t0050g0008 a0001c0001t0090g0099 a0001c0001t0091g0082 a0001c0006t0093g0167 a0001c0014t0073g0038 a0001c0015t0054g0010 a0001c0015t0169g0209 a0001c0022t0131g0226	8	294	0.0272	-24	c.236 others(41): Show c.2367+323_2367+346delTGTTTTTTGTTTTTTTTTTTTTTT	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	14/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117335729	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0183 a0001c0008t0183	a0001c0008t0183g0172 a0001c0008t0183g0172	1	294	0.0034	-24	c.-42 others(43): Show c.-420-4264_-420-4241delTCTCTCTCTCTCTCTCTCTCTCTC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117359874	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0110 a0001c0005t0110	a0001c0005t0110g0040 a0001c0005t0110g0040	1	294	0.0034	-24	c.-42 others(43): Show c.-421+1614_-421+1637delTATATATATATATATATATATAAA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117359876	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02040.hp1 HG02132.hp2 others(4): Show HG01952.hp1 HG02040.hp1 HG02132.hp2 HG02135.hp2 HG02622.hp2 NA18984.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0118 a0001c0002t0026 a0001c0005t0029 a0001c0010t0089	a0001c0001t0001g0176 a0001c0001t0004g0175 a0001c0001t0014g0177 others(4): Show a0001c0001t0001g0176 a0001c0001t0004g0175 a0001c0001t0014g0177 a0001c0001t0118g0178 a0001c0002t0026g0179 a0001c0005t0029g0174 a0001c0010t0089g0288	7	294	0.0238	-24	c.-42 others(43): Show c.-421+1612_-421+1635delTATATATATATATATATATATATA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS3_chr7_150986017_151019588	151002383	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03942.hp1 HG01884.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0206 a0001c0002t0001g0060 a0001c0001t0001g0206 a0001c0002t0001g0060	2	382	0.0052	-24	c.175 others(41): Show c.1752+126_1752+149delACACACACACACACACACACACAC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOSTRIN_chr2_168797637_168870514	168834493	GCGCGCGC others(17): Show GCGCGCGCGCGCGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01943.hp2 others(16): Show HG00423.hp1 HG00673.hp2 HG01943.hp2 HG02027.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18961.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18978.hp1 NA18992.hp2 NA18997.hp2 NA19057.hp1 NA19057.hp2 NA19070.hp2 NA19078.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0004t0002 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0004t0002 a0001c0007t0001 a0002c0003t0001	a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0304 others(15): Show a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0004t0002g0294 a0001c0007t0001g0165 a0001c0007t0001g0211 a0002c0003t0001g0013 a0002c0003t0001g0076 a0002c0003t0001g0231 a0002c0003t0001g0285 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0305 a0002c0003t0001g0307	19	326	0.0583	-24	c.504 others(39): Show c.504+170_504+193delGCGCGCGCGCGCGCACACACACAC	NOSTRIN	ENSG00000163072.16	transcript	ENST00000317647.12	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
NOTCH2NLB_chr1_148595285_148684746	148670533	AAAAAAAA others(17): Show AAAAAAAATATATATATATACATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0005 a0003c0004t0006g0005	1	36	0.0278	-24	c.3+8 others(37): Show c.3+8905_3+8928delATATGTATATATATATATTTTTTT	NOTCH2NLB	ENSG00000286019.2	transcript	ENST00000593495.4	protein_coding	1/4			chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149460854	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02135.hp1 HG03491.hp1 others(2): Show HG01934.hp1 HG02135.hp1 HG03491.hp1 HG03492.hp2 NA19078.hp1	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0020	a0002c0002 a0003c0021 a0007c0006 others(1): Show a0002c0002 a0003c0021 a0007c0006 a0020c0018	a0002c0002t0019 a0003c0021t0003 a0007c0006t0006 others(2): Show a0002c0002t0019 a0003c0021t0003 a0007c0006t0006 a0020c0018t0003 a0020c0018t0018	a0002c0002t0019g0111 a0003c0021t0003g0092 a0007c0006t0006g0088 others(2): Show a0002c0002t0019g0111 a0003c0021t0003g0092 a0007c0006t0006g0088 a0020c0018t0003g0002 a0020c0018t0018g0002	5	260	0.0192	-24	c.470 others(41): Show c.470-2598_470-2575delTTCTTTCTTTCTTTCTTTCTTTCT	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	119999956	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	168	0.0060	-24	c.416 others(41): Show c.416-2648_416-2625delCCTTTCTTTCTTTCTTTCTTTCTT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	3/33			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	119999964	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG02145.hp1 others(7): Show HG00735.hp1 HG01109.hp1 HG02145.hp1 HG02300.hp2 HG02559.hp1 HG02738.hp2 HG02809.hp1 HG02965.hp2 HG03471.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0002c0009	a0001c0002t0002 a0001c0002t0006 a0001c0003t0011 others(3): Show a0001c0002t0002 a0001c0002t0006 a0001c0003t0011 a0001c0004t0004 a0001c0004t0018 a0002c0009t0002	a0001c0002t0002g0014 a0001c0002t0002g0033 a0001c0002t0002g0035 others(7): Show a0001c0002t0002g0014 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0137 a0001c0002t0006g0008 a0001c0002t0006g0009 a0001c0003t0011g0006 a0001c0004t0004g0126 a0001c0004t0018g0135 a0002c0009t0002g0050	10	168	0.0595	-24	c.416 others(41): Show c.416-2656_416-2633delCCTTCCTTCCTTTCTTTCTTTCTT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	3/33			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120051251	ACACACAC others(17): Show ACACACACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0010 a0001c0025t0010	a0001c0025t0010g0004 a0001c0025t0010g0004	1	168	0.0060	-24	c.73+ others(41): Show c.73+18059_73+18082delCGTGTGTGTGTGTGTGTGTGTGTG	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTUM_chr17_81947507_81966187	81964209	AGCCCCTG others(17): Show AGCCCCTGGGACAGCTTTATCCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	-24	c.-33 others(35): Show c.-3324_-3301delAGAGGATAAAGCTGTCCCAGGGGC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		3023		chr17	TogoVar
NOVA1_chr14_26438090_26603033	26510215	CACAAGAA others(17): Show CACAAGAAATATAAGCTAAGCACAT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	244	0.0041	-24	c.281 others(43): Show c.281-30096_281-30073delATGTGCTTAGCTTATATTTCTTGT	NOVA1	ENSG00000139910.20	transcript	ENST00000539517.7	protein_coding	2/4			chr14	TogoVar
NOVA2_chr19_45928734_45978865	45964348	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0278 a0001c0002t0017g0278	1	402	0.0025	-24	c.86- others(39): Show c.86-3219_86-3196delCACACACACACACACACACACACA	NOVA2	ENSG00000104967.8	transcript	ENST00000263257.6	protein_coding	1/3			chr19	TogoVar
NPAS1_chr19_47014837_47050775	47016841	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02109.hp2 HG02145.hp1 others(3): Show HG00408.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 NA18953.hp2 NA18971.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0018 others(1): Show a0001c0001 a0001c0002 a0001c0018 a0003c0015	a0001c0001t0003 a0001c0002t0001 a0001c0018t0001 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0018t0001 a0003c0015t0001	a0001c0001t0003g0150 a0001c0001t0003g0171 a0001c0001t0003g0172 others(3): Show a0001c0001t0003g0150 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0002t0001g0276 a0001c0018t0001g0362 a0003c0015t0001g0414	6	418	0.0144	-24	c.-31 others(35): Show c.-3198_-3175delAGAAAGAAAGAAAGAAAGAAAGAA	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding		2995		chr19	TogoVar

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