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	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
NLGN4X_chrX_5885042_6233867	5925847	TACACATA others(27): Show TACACATATATATATATATATATATACATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0034 a0001c0002t0003g0012 a0001c0002t0003g0034	2	128	0.0156	-34	c.626 others(53): Show c.626-16642_626-16609delGTGTGTATGTATATATATATATATAT ATATGTGT		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5						chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6021043	TCTCTCCC others(27): Show TCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG02135.hp1 others(2): Show HG00423.hp1 HG00673.hp1 HG02135.hp1 NA19060.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0007 a0001c0001 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0002g0085 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0002g0085 a0001c0004t0001g0101 a0002c0007t0001g0124	5	128	0.0391	-34	c.625 others(51): Show c.625+8203_625+8236delGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGAG		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5						chrX	TogoVar
NLRP12_chr19_53788741_53829314	53819431	ATATATAT others(27): Show ATATATATATATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG01069.hp1 HG02896.hp2 HG02897.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0005 others(1): Show a0001c0001 a0002c0004 a0002c0005 a0002c0008	a0001c0001t0003 a0002c0004t0002 a0002c0005t0002 others(1): Show a0001c0001t0003 a0002c0004t0002 a0002c0005t0002 a0002c0008t0002	a0001c0001t0003g0108 a0002c0004t0002g0166 a0002c0005t0002g0001 others(1): Show a0001c0001t0003g0108 a0002c0004t0002g0166 a0002c0005t0002g0001 a0002c0008t0002g0187	5	416	0.0120	-34	c.289 others(51): Show c.289+4421_290-4444delCACACACATATATATATATATATATATA TATATA		NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9						chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819433	ATATATAT others(27): Show ATATATATATATATATATATATATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(47): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01074.hp1 HG01168.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02602.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02895.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp2 NA18612.hp1 NA18942.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18964.hp2 NA18965.hp2 NA18979.hp2 NA18997.hp2 NA19009.hp1 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp1 NA20129.hp1 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0006 others(3): Show a0002c0004 a0002c0005 a0002c0006 a0002c0008 a0002c0035 a0002c0038	a0002c0004t0002 a0002c0004t0005 a0002c0005t0002 others(7): Show a0002c0004t0002 a0002c0004t0005 a0002c0005t0002 a0002c0005t0005 a0002c0006t0002 a0002c0006t0014 a0002c0008t0002 a0002c0008t0005 a0002c0035t0002 a0002c0038t0002	a0002c0004t0002g0149 a0002c0004t0002g0159 a0002c0004t0002g0165 others(46): Show a0002c0004t0002g0149 a0002c0004t0002g0159 a0002c0004t0002g0165 a0002c0004t0002g0168 a0002c0004t0002g0170 a0002c0004t0002g0171 a0002c0004t0002g0173 a0002c0004t0002g0174 a0002c0004t0002g0175 a0002c0004t0002g0176 a0002c0004t0002g0190 a0002c0004t0002g0191 a0002c0004t0002g0192 a0002c0004t0002g0201 a0002c0004t0002g0205 a0002c0004t0002g0208 a0002c0004t0002g0209 a0002c0004t0002g0213 a0002c0004t0002g0215 a0002c0004t0002g0223 a0002c0004t0005g0193 a0002c0005t0002g0147 a0002c0005t0002g0161 a0002c0005t0002g0164 a0002c0005t0002g0177 a0002c0005t0002g0178 a0002c0005t0002g0194 a0002c0005t0002g0195 a0002c0005t0002g0203 a0002c0005t0005g0172 a0002c0005t0005g0210 a0002c0006t0002g0002 a0002c0006t0002g0179 a0002c0006t0002g0180 a0002c0006t0002g0181 a0002c0006t0002g0182 a0002c0006t0002g0183 a0002c0006t0002g0184 a0002c0006t0002g0189 a0002c0006t0002g0197 a0002c0006t0002g0199 a0002c0006t0002g0200 a0002c0006t0014g0412 a0002c0008t0002g0202 a0002c0008t0002g0204 a0002c0008t0002g0206 a0002c0008t0005g0150 a0002c0035t0002g0169 a0002c0038t0002g0207	50	416	0.1202	-34	c.289 others(51): Show c.289+4419_290-4446delCACACACACATATATATATATATATATA TATATA		NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9						chr19	TogoVar
NLRP5_chr19_55994726_56066810	56007870	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGCGCGTGCGCGCGTGC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0260 a0001c0003t0001g0260	1	396	0.0025	-34	c.443 others(49): Show c.443-898_443-865delCGCGTGCGCGCGTGCGTGTGTGTGTGTGTG TGTG		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56043542	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(89): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18955.hp2 NA18960.hp1 NA18967.hp1 NA18973.hp2 NA18979.hp1 NA18989.hp1 NA18995.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp2 NA19065.hp1 NA19068.hp1 NA19084.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0016 a0023 a0034 a0042 a0043	a0001c0001 a0001c0002 a0001c0003 others(27): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0015 a0001c0022 a0001c0052 a0001c0082 a0001c0085 a0001c0121 a0001c0123 a0001c0132 a0002c0012 a0003c0024 a0003c0051 a0003c0111 a0003c0122 a0004c0070 a0007c0010 a0007c0032 a0008c0017 a0009c0013 a0009c0090 a0010c0016 a0016c0097 a0016c0129 a0023c0057 a0034c0066 a0042c0069 a0043c0119	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(27): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0015t0001 a0001c0022t0001 a0001c0052t0001 a0001c0082t0001 a0001c0085t0001 a0001c0121t0001 a0001c0123t0001 a0001c0132t0001 a0002c0012t0002 a0003c0024t0001 a0003c0051t0001 a0003c0111t0001 a0003c0122t0001 a0004c0070t0001 a0007c0010t0001 a0007c0032t0001 a0008c0017t0001 a0009c0013t0001 a0009c0090t0001 a0010c0016t0001 a0016c0097t0001 a0016c0129t0001 a0023c0057t0004 a0034c0066t0001 a0042c0069t0001 a0043c0119t0001	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0091 others(89): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0253 a0001c0001t0001g0264 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0002t0001g0010 a0001c0002t0001g0032 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0108 a0001c0002t0001g0148 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0241 a0001c0002t0001g0320 a0001c0002t0001g0393 a0001c0003t0001g0112 a0001c0009t0001g0283 a0001c0015t0001g0046 a0001c0022t0001g0273 a0001c0022t0001g0274 a0001c0052t0001g0026 a0001c0082t0001g0168 a0001c0085t0001g0236 a0001c0121t0001g0290 a0001c0123t0001g0342 a0001c0132t0001g0242 a0002c0012t0002g0003 a0002c0012t0002g0055 a0002c0012t0002g0057 a0002c0012t0002g0240 a0002c0012t0002g0383 a0003c0024t0001g0025 a0003c0024t0001g0239 a0003c0051t0001g0020 a0003c0111t0001g0291 a0003c0122t0001g0276 a0004c0070t0001g0069 a0007c0010t0001g0036 a0007c0010t0001g0235 a0007c0010t0001g0385 a0007c0010t0001g0391 a0007c0032t0001g0254 a0008c0017t0001g0154 a0008c0017t0001g0173 a0008c0017t0001g0227 a0009c0013t0001g0350 a0009c0013t0001g0351 a0009c0013t0001g0352 a0009c0090t0001g0131 a0010c0016t0001g0294 a0016c0097t0001g0107 a0016c0129t0001g0100 a0023c0057t0004g0360 a0034c0066t0001g0219 a0042c0069t0001g0365 a0043c0119t0001g0272	92	396	0.2323	-34	c.295 others(53): Show c.2957+2458_2957+2491delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55986440	GCACTCTC others(27): Show GCACTCTCTCTCTCACACACACACTCTCTCACATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0000 a0000	a0000c0044 a0000c0044	a0000c0044t0037 a0000c0044t0037	a0000c0044t0037g0158 a0000c0044t0037g0158	1	350	0.0029	-34	c.304 others(53): Show c.3048-1370_3048-1337delTCTCTCTCTCACACACACACTCTCTC ACATACAC		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NMBR_chr6_142069484_142152122	142105101	CAAGGGCG others(27): Show CAAGGGCGGGGGAATATCACAAAGTACATTATCGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0047 a0002c0002t0029g0047	1	330	0.0030	-34	c.-66 others(55): Show c.-663-15814_-663-15781delTCGATAATGTACTTTGTGATATTC CCCCGCCCTT		NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	1/3						chr6	TogoVar
NME8_chr7_37843597_37905397	37882599	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	388	0.0026	-34	c.995 others(51): Show c.995-1700_995-1667delGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
NMT2_chr10_15100770_15173693	15112196	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	276	0.0036	-34	c.133 others(51): Show c.1338+566_1338+599delAAAAAAAAAAAAAATATATATATATATA TATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112198	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18959.hp2 NA18980.hp2 others(1): Show HG01099.hp1 NA18959.hp2 NA18980.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 a0001c0001t0001 a0001c0001t0002 a0001c0001t0037	a0001c0001t0001g0026 a0001c0001t0002g0063 a0001c0001t0002g0158 others(1): Show a0001c0001t0001g0026 a0001c0001t0002g0063 a0001c0001t0002g0158 a0001c0001t0037g0179	4	276	0.0145	-34	c.133 others(51): Show c.1338+564_1338+597delAAAAAAAAAAAAAAAATATATATATATA TATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112200	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02074.hp1 HG02735.hp1 others(3): Show HG01081.hp1 HG02074.hp1 HG02735.hp1 NA18957.hp1 NA18984.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0041 others(3): Show a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0047 a0001c0001t0002g0159 a0001c0001t0002g0229	6	276	0.0217	-34	c.133 others(51): Show c.1338+562_1338+595delAAAAAAAAAAAAAAAAAATATATATATA TATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NMT2_chr10_15100770_15173693	15112202	ATATATAT others(27): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0118 a0001c0001t0028g0118	1	276	0.0036	-34	c.133 others(51): Show c.1338+560_1338+593delAAAAAAAAAAAAAAAAAAAATATATATA TATATA		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11						chr10	TogoVar
NODAL_chr10_70426936_70446681	70445968	GCTCATCC others(27): Show GCTCATCCATCTCTGAACTTTCTTGGGCTCTGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	434	0.0023	-34	c.-43 others(45): Show c.-4335_-4302delTGCCAGAGCCCAAGAAAGTTCAGAGATGGATGAG		NODAL	ENSG00000156574.10	transcript	ENST00000287139.8	protein_coding					4288		chr10	TogoVar
NOL4L_chr20_32438059_32590333	32488805	TTTTCTTT others(27): Show TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0051 a0001c0001t0007g0051	1	196	0.0051	-34	c.700 others(53): Show c.700-14097_700-14064delGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAA		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOP14_chr4_2932936_2968406	2946073	ACTCTCAC others(27): Show ACTCTCACTCCAGATCACCCTCACTGCCGTGCACT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01167.hp1 others(40): Show HG00738.hp1 HG01069.hp2 HG01167.hp1 HG01257.hp1 HG01361.hp2 HG01884.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03669.hp1 HG04204.hp1 NA18949.hp2 NA18950.hp2 NA18960.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18986.hp2 NA18990.hp1 NA19003.hp2 NA19005.hp2 NA19043.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0002 a0006 a0021 others(1): Show a0002 a0006 a0021 a0023	a0002c0002 a0002c0018 a0006c0005 others(2): Show a0002c0002 a0002c0018 a0006c0005 a0021c0019 a0023c0030	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(5): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0018t0027 a0006c0005t0001 a0021c0019t0001 a0023c0030t0004	a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0047 others(31): Show a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0047 a0002c0002t0001g0064 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0226 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0003g0225 a0002c0002t0004g0241 a0002c0002t0008g0058 a0002c0018t0027g0144 a0006c0005t0001g0244 a0006c0005t0001g0250 a0006c0005t0001g0253 a0021c0019t0001g0249 a0023c0030t0004g0317	43	422	0.1019	-34	c.163 others(51): Show c.1635+305_1635+338delAGTGCACGGCAGTGAGGGTGATCTGGAG TGAGAG		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	11/17						chr4	TogoVar
NOP14_chr4_2932936_2968406	2960729	TTAATATT others(27): Show TTAATATTAATATATTAATATTATAATCACATTAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	422	0.0024	-34	c.195 others(51): Show c.195+2362_195+2395delTTAATGTGATTATAATATTAATATATTA ATATTA		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17						chr4	TogoVar
NOS1_chr12_117203142_117366626	117359874	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	294	0.0034	-34	c.-42 others(53): Show c.-421+1604_-421+1637delTATATATATATATATATATATATATA TATATAAA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28						chr12	TogoVar
NOS1_chr12_117203142_117366626	117359876	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02622.hp1 others(1): Show HG01168.hp2 HG01169.hp1 HG02622.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0018 a0001c0002t0053 a0001c0001t0013 a0001c0001t0018 a0001c0002t0053	a0001c0001t0013g0285 a0001c0001t0018g0026 a0001c0001t0018g0027 others(1): Show a0001c0001t0013g0285 a0001c0001t0018g0026 a0001c0001t0018g0027 a0001c0002t0053g0016	4	294	0.0136	-34	c.-42 others(53): Show c.-421+1602_-421+1635delTATATATATATATATATATATATATA TATATATA		NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28						chr12	TogoVar
NOS2_chr17_27751766_27805529	27802914	CAACATAG others(27): Show CAACATAGTGAGATCCAATCTCTACAGAAAAATTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	402	0.0025	-34	c.-26 others(45): Show c.-2683_-2650delCAATTTTTCTGTAGAGATTGGATCTCACTATGTT		NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding					2386		chr17	TogoVar
NOTCH3_chr19_15154038_15205995	15173732	AAAAAAAA others(27): Show AAAAAAAAAAGAAAAGAAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00621.hp2 others(12): Show HG00280.hp2 HG00597.hp2 HG00621.hp2 HG01081.hp2 HG01109.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02622.hp1 HG03239.hp1 HG03654.hp2 HG04199.hp2 NA18747.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0014 a0023 a0001 a0014 a0023	a0001c0001 a0014c0032 a0023c0030 a0001c0001 a0014c0032 a0023c0030	a0001c0001t0001 a0014c0032t0001 a0023c0030t0001 a0001c0001t0001 a0014c0032t0001 a0023c0030t0001	a0001c0001t0001g0012 a0001c0001t0001g0175 a0001c0001t0001g0185 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0217 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0284 a0001c0001t0001g0285 a0014c0032t0001g0256 a0023c0030t0001g0110	15	340	0.0441	-34	c.473 others(51): Show c.4736+302_4736+335delCCTTCTCCTTCTCCTTCTTCTTTTCTTT TTTTTT		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15173734	AAAAAAAA others(27): Show AAAAAAAAGAAAAGAAGAAGGAGAAGGAGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp2 HG00673.hp2 others(63): Show HG00544.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01123.hp2 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG02015.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03492.hp1 HG03579.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18944.hp2 NA18951.hp1 NA18955.hp2 NA18971.hp1 NA18974.hp2 NA18980.hp1 NA18986.hp2 NA18990.hp2 NA19000.hp1 NA19043.hp2 NA19058.hp1 NA19062.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0009 a0011 a0013 a0020 a0022	a0001c0001 a0001c0009 a0001c0014 others(13): Show a0001c0001 a0001c0009 a0001c0014 a0002c0003 a0002c0006 a0002c0017 a0003c0004 a0003c0025 a0005c0020 a0006c0019 a0009c0054 a0011c0027 a0011c0057 a0013c0052 a0020c0056 a0022c0058	a0001c0001t0003 a0001c0009t0001 a0001c0014t0001 others(18): Show a0001c0001t0003 a0001c0009t0001 a0001c0014t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0015 a0002c0003t0022 a0002c0006t0003 a0002c0006t0007 a0002c0017t0004 a0003c0004t0001 a0003c0025t0001 a0005c0020t0007 a0006c0019t0007 a0006c0019t0011 a0009c0054t0003 a0011c0027t0016 a0011c0057t0003 a0013c0052t0004 a0020c0056t0004 a0022c0058t0007	a0001c0001t0003g0207 a0001c0009t0001g0046 a0001c0014t0001g0309 others(62): Show a0001c0001t0003g0207 a0001c0009t0001g0046 a0001c0014t0001g0309 a0001c0014t0001g0310 a0001c0014t0001g0311 a0002c0003t0003g0011 a0002c0003t0003g0030 a0002c0003t0003g0040 a0002c0003t0003g0052 a0002c0003t0003g0055 a0002c0003t0003g0057 a0002c0003t0003g0066 a0002c0003t0003g0067 a0002c0003t0003g0068 a0002c0003t0003g0072 a0002c0003t0003g0118 a0002c0003t0003g0119 a0002c0003t0003g0126 a0002c0003t0003g0132 a0002c0003t0003g0135 a0002c0003t0003g0164 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0003g0249 a0002c0003t0003g0254 a0002c0003t0003g0330 a0002c0003t0004g0056 a0002c0003t0004g0059 a0002c0003t0004g0065 a0002c0003t0004g0117 a0002c0003t0004g0120 a0002c0003t0004g0124 a0002c0003t0004g0231 a0002c0003t0015g0048 a0002c0003t0022g0125 a0002c0006t0003g0253 a0002c0006t0003g0303 a0002c0006t0003g0306 a0002c0006t0003g0307 a0002c0006t0003g0313 a0002c0006t0003g0315 a0002c0006t0003g0324 a0002c0006t0007g0308 a0002c0017t0004g0230 a0003c0004t0001g0004 a0003c0004t0001g0034 a0003c0004t0001g0080 a0003c0004t0001g0114 a0003c0004t0001g0159 a0003c0004t0001g0276 a0003c0004t0001g0304 a0003c0025t0001g0028 a0005c0020t0007g0026 a0005c0020t0007g0296 a0005c0020t0007g0298 a0006c0019t0007g0008 a0006c0019t0011g0007 a0009c0054t0003g0319 a0011c0027t0016g0153 a0011c0057t0003g0327 a0013c0052t0004g0045 a0020c0056t0004g0089 a0022c0058t0007g0297	66	340	0.1941	-34	c.473 others(51): Show c.4736+300_4736+333delCTCCTTCTCCTTCTCCTTCTTCTTTTCT TTTTTT		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NOTUM_chr17_81947507_81966187	81952348	GGGAGGGG others(27): Show GGGAGGGGAGGGAGAGGAGGAGGGGAGGGAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01074.hp1 others(45): Show HG00621.hp2 HG01070.hp1 HG01074.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02055.hp1 HG02080.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18940.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18966.hp1 NA18998.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19056.hp1 NA19064.hp2 NA19067.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp2 NA19088.hp2 NA21309.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0008c0012 a0011c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0015 a0002c0003t0009 a0008c0012t0001 a0011c0008t0016	a0001c0001t0001g0001 a0001c0001t0001g0091 a0001c0001t0001g0096 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0020 a0001c0002t0001g0033 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0003g0042 a0001c0002t0003g0113 a0001c0002t0015g0102 a0002c0003t0009g0018 a0008c0012t0001g0043 a0011c0008t0016g0126	48	384	0.1250	-34	c.57 others(43): Show c.579_*612delTCCTCTCCCTCCCCTCCTCCTCTCCCTCCCCTCC		NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding					158		chr17	TogoVar
NPAS1_chr19_47014837_47050775	47043865	GACAAGCC others(27): Show GACAAGCCTGGGCAACATAGTGAGACCCCATCTCA	G G	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	418	0.0024	-34	c.131 others(51): Show c.1312+966_1312+999delGCCTGGGCAACATAGTGAGACCCCATCT CAACAA		NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
NPAS2_chr2_100815139_101001829	100873295	TATATATA others(27): Show TATATATATATATACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	288	0.0035	-34	c.-22 others(53): Show c.-22-31436_-22-31403delTATATATATATACACACACACACACA CACACACA		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	33543969	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0044 a0001c0001t0061g0044	1	92	0.0109	-34	c.469 others(53): Show c.469-16146_469-16113delATATATATATATATATATATATATAT ATCTATAT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPC1L1_chr7_44507535_44546330	44529110	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0205 a0001c0002t0001g0205	1	320	0.0031	-34	c.263 others(53): Show c.2637+2611_2637+2644delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding	10/18						chr7	TogoVar
NPFFR2_chr4_72027000_72153305	72036513	ATATATAT others(27): Show ATATATATAATGTATATATACATTTAAATATATAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02622.hp2 HG02723.hp1 others(8): Show HG01257.hp2 HG02622.hp2 HG02723.hp1 HG02818.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03540.hp2 HG03579.hp2 NA19007.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0004c0007t0010	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0027 others(8): Show a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0027 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0005g0028 a0004c0007t0010g0303	11	344	0.0320	-34	c.-8+ others(49): Show c.-8+4390_-8+4423delATGTATATATACATTTAAATATATAGTATA TATA		NPFFR2	ENSG00000056291.19	transcript	ENST00000308744.12	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr4	TogoVar
NPIPB6_chr16_28337517_28368508	28356737	GGGGGAGG others(27): Show GGGGGAGGGGAAGGGGAGGGGGAGGGGAAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp2 HG01891.hp2 others(23): Show HG01106.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp1 NA20300.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0012 a0004c0004 a0008c0012	a0004c0004t0002 a0004c0004t0004 a0008c0012t0002 a0004c0004t0002 a0004c0004t0004 a0008c0012t0002	a0004c0004t0002g0222 a0004c0004t0002g0224 a0004c0004t0002g0225 others(23): Show a0004c0004t0002g0222 a0004c0004t0002g0224 a0004c0004t0002g0225 a0004c0004t0002g0227 a0004c0004t0002g0228 a0004c0004t0002g0229 a0004c0004t0002g0231 a0004c0004t0002g0232 a0004c0004t0002g0233 a0004c0004t0002g0234 a0004c0004t0002g0235 a0004c0004t0002g0236 a0004c0004t0002g0237 a0004c0004t0002g0238 a0004c0004t0002g0239 a0004c0004t0002g0240 a0004c0004t0002g0241 a0004c0004t0002g0242 a0004c0004t0002g0243 a0004c0004t0002g0244 a0004c0004t0002g0245 a0004c0004t0002g0246 a0004c0004t0002g0327 a0004c0004t0004g0024 a0008c0012t0002g0226 a0008c0012t0002g0230	26	361	0.0720	-34	c.121 others(51): Show c.121-3710_121-3677delTTCCCCTTCCCCTCCCCCTCCCCTTCCC CTCCCC		NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding	2/7						chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28758517	CCCCCTTC others(27): Show CCCCCTTCCCCTCCCCTTCCCCTTCCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0025 a0025	a0025c0020 a0025c0020	a0025c0020t0005 a0025c0020t0005	a0025c0020t0005g0169 a0025c0020t0005g0169	1	179	0.0056	-34	c.121 others(51): Show c.121-3718_121-3685delTTCCCCTTCCCCTCCCCCTCCCCTTCCC CTCCCC		NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPM1_chr5_171382849_171415900	171383567	GAAAGACT others(27): Show GAAAGACTCAATCATTTTCCTGCTTTTCTTATACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	402	0.0025	-34	c.-43 others(45): Show c.-4381_-4348delAAAGACTCAATCATTTTCCTGCTTTTCTTATACA		NPM1	ENSG00000181163.14	transcript	ENST00000296930.10	protein_coding					4281		chr5	TogoVar
NPNT_chr4_105890471_105976671	105898294	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01243.hp2 others(8): Show HG00735.hp1 HG01081.hp1 HG01243.hp2 HG01884.hp1 HG02004.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA19030.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0008 a0001c0001 a0003c0003 a0008c0008	a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 others(2): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0008c0008t0002	a0001c0001t0002g0215 a0003c0003t0001g0210 a0003c0003t0002g0001 others(7): Show a0001c0001t0002g0215 a0003c0003t0001g0210 a0003c0003t0002g0001 a0003c0003t0002g0209 a0003c0003t0002g0216 a0003c0003t0002g0217 a0003c0003t0002g0218 a0003c0003t0004g0208 a0003c0003t0004g0224 a0008c0008t0002g0001	11	236	0.0466	-34	c.172 others(49): Show c.172+311_172+344delGTCTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCT		NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
NPRL3_chr16_80386_143673	98347	CTGCACCG others(27): Show CTGCACCGGGTATGCACCAGGTCCTGCACCAGGTA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02735.hp1 HG02970.hp2 HG02622.hp2 HG02735.hp1 HG02970.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0012 a0001c0001 a0003c0004 a0007c0012	a0001c0001t0005 a0003c0004t0002 a0007c0012t0002 a0001c0001t0005 a0003c0004t0002 a0007c0012t0002	a0001c0001t0005g0077 a0003c0004t0002g0003 a0007c0012t0002g0148 a0001c0001t0005g0077 a0003c0004t0002g0003 a0007c0012t0002g0148	3	350	0.0086	-34	c.768 others(47): Show c.768-80_768-47delTACCTGGTGCAGGACCTGGTGCATACCCGGTG CA		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	8/13						chr16	TogoVar
NPRL3_chr16_80386_143673	138584	GGGGGCCT others(27): Show GGGGGCCTGAGGAGGACAGGGGTGGTGGTGGACGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02258.hp1 others(3): Show HG01884.hp2 HG02109.hp1 HG02258.hp1 HG02965.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 others(3): Show a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130	6	350	0.0171	-34	c.-68 others(47): Show c.-68+24_-68+57delGCGTCCACCACCACCCCTGTCCTCCTCAGGCC CC		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	1/13						chr16	TogoVar
NPS_chr10_127544309_127558540	127551013	ATAAAGGT others(27): Show ATAAAGGTGGCATCATGAGTATTTCTGGAAAGAAC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	464	0.0022	-34	c.90+ others(49): Show c.90+1445_91-1412delAAAGGTGGCATCATGAGTATTTCTGGAAAG AACT		NPS	ENSG00000214285.3	transcript	ENST00000398023.3	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
NPY1R_chr4_163318962_163337596	163334068	ATTTCAAC others(27): Show ATTTCAACTCTTTCAGGGAAGAATAACTAATATTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0032 a0001c0001t0018g0032	1	418	0.0024	-34	c.-17 others(45): Show c.-1772_-1739delGAATATTAGTTATTCTTCCCTGAAAGAGTTGAAA		NPY1R	ENSG00000164128.7	transcript	ENST00000296533.3	protein_coding					1473		chr4	TogoVar
NPY4R2_chr10_47913662_47928524	47918365	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01993.hp2 HG01109.hp2 HG01993.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	2	276	0.0073	-34	c.-79 others(43): Show c.-792_-759delAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA		NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding					296		chr10	TogoVar
NPY4R_chr10_46456099_46470958	46466183	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	290	0.0035	-34	c.-75 others(43): Show c.-755_-722delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA		NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding					226		chr10	TogoVar
NPY4R_chr10_46456099_46470958	46466252	TTTCTTTC others(27): Show TTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0005 a0002c0004t0004g0005	1	290	0.0035	-34	c.-82 others(43): Show c.-824_-791delGAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAA		NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding					295		chr10	TogoVar
NR1H3_chr11_47252996_47274033	47255575	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA18978.hp1 HG02965.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0003 a0001c0001t0001g0043	2	368	0.0054	-34	c.-25 others(45): Show c.-2591_-2558delTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTC		NR1H3	ENSG00000025434.19	transcript	ENST00000441012.7	protein_coding					2420		chr11	TogoVar
NR3C2_chr4_148073764_148447414	148261185	GCTATGGT others(27): Show GCTATGGTGCACTATGGTAAGCGCTATGGTAAGCC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	170	0.0059	-34	c.175 others(53): Show c.1758-1102_1758-1069delGGCTTACCATAGCGCTTACCATAGTG CACCATAG		NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8						chr4	TogoVar
NR3C2_chr4_148073764_148447414	148261262	CGCTATGG others(27): Show CGCTATGGTGCACTATGGTAAGCGCTATGGTAAGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0002 a0004c0005t0004 a0001c0003t0002 a0004c0005t0004	a0001c0003t0002g0065 a0004c0005t0004g0016 a0001c0003t0002g0065 a0004c0005t0004g0016	2	170	0.0118	-34	c.175 others(53): Show c.1758-1179_1758-1146delACTTACCATAGCGCTTACCATAGTGC ACCATAGC		NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8						chr4	TogoVar
NR3C2_chr4_148073764_148447414	148261273	ACTATGGT others(27): Show ACTATGGTAAGCGCTATGGTAAGTGCTATGGTGCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18972.hp2 NA18977.hp1 HG01496.hp1 NA18972.hp2 NA18977.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0123 a0001c0001t0003g0162 a0002c0002t0001g0029 a0001c0001t0003g0123 a0001c0001t0003g0162 a0002c0002t0001g0029	3	170	0.0177	-34	c.175 others(53): Show c.1758-1190_1758-1157delCGCACCATAGCACTTACCATAGCGCT TACCATAG		NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8						chr4	TogoVar
NR4A1_chr12_52046442_52064503	52054795	GCTCCTTC others(27): Show GCTCCTTCGGCCACTTCTCGCCCAGCCAGACTTAC	G G	frameshift_variant frameshift_variant	HIGH	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0060 a0006c0014t0001g0060	1	422	0.0024	-34	c.468 others(41): Show c.468_501delCTCCTTCGGCCACTTCTCGCCCAGCCAGACTTAC	p.Ser others(5): Show p.Ser157fs	NR4A1	ENSG00000123358.20	transcript	ENST00000394825.6	protein_coding	2/7	597/2485	468/1797	156/598			chr12	TogoVar
NRBP1_chr2_27423631_27447259	27427281	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	276	0.0036	-34	c.-14 others(45): Show c.-1470_-1437delTATATATATATATATATATATATATATATATTTT		NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding					1349		chr2	TogoVar
NRG1_chr8_32543311_32779046	32772036	AATATGTA others(27): Show AATATGTATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0104 a0002c0002t0104	a0002c0002t0104g0232 a0002c0002t0104g0232	1	244	0.0041	-34	c.76 others(45): Show c.7639_*7672delGTATATATATATATATATATATATATATATATAT		NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	12/12				7639	INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG3_chr10_81870194_82992178	82102099	TATATATG others(27): Show TATATATGTGTATTCATATATATATATGTGTATTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	66	0.0152	-34	c.823 others(55): Show c.823+225943_823+225976delGTGTATTCATATATATATATGTGT ATTCATATAT		NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
NRK_chrX_105817539_105963610	105864908	GGGCTGGA others(27): Show GGGCTGGAAGCAGCTTACAGCAAATCAGCACCTTA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0034 a0003c0003t0003g0034	1	219	0.0046	-34	c.124 others(53): Show c.124-15289_124-15256delGCTGGAAGCAGCTTACAGCAAATCAG CACCTTAG		NRK	ENSG00000123572.17	transcript	ENST00000243300.14	protein_coding	2/28					INFO_REALIGN_3_PRIME	chrX	TogoVar
NRXN1_chr2_49913503_51037132	50098830	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp1 HG01123.hp2 others(26): Show HG00609.hp2 HG00738.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG02027.hp1 HG02145.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18941.hp1 NA18948.hp2 NA19030.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0007 others(1): Show a0001c0001 a0001c0002 a0003c0007 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0052 a0001c0001t0061 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0045 a0001c0002t0047 a0001c0002t0050 a0003c0007t0060 a0005c0009t0004	a0001c0001t0002g0047 a0001c0001t0004g0010 a0001c0001t0006g0023 others(26): Show a0001c0001t0002g0047 a0001c0001t0004g0010 a0001c0001t0006g0023 a0001c0001t0006g0027 a0001c0001t0012g0001 a0001c0001t0013g0081 a0001c0001t0016g0021 a0001c0001t0017g0066 a0001c0001t0018g0068 a0001c0001t0019g0072 a0001c0001t0023g0005 a0001c0001t0024g0014 a0001c0001t0028g0008 a0001c0001t0029g0018 a0001c0001t0052g0043 a0001c0001t0061g0074 a0001c0002t0001g0105 a0001c0002t0002g0086 a0001c0002t0003g0099 a0001c0002t0005g0077 a0001c0002t0005g0083 a0001c0002t0005g0103 a0001c0002t0006g0108 a0001c0002t0010g0106 a0001c0002t0045g0087 a0001c0002t0047g0102 a0001c0002t0050g0107 a0003c0007t0060g0113 a0005c0009t0004g0013	29	116	0.2500	-34	c.354 others(53): Show c.3547-7370_3547-7337delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	18/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50868141	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01099.hp1 others(21): Show HG00438.hp2 HG00738.hp2 HG01099.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01346.hp1 HG01934.hp2 HG01952.hp1 HG02074.hp1 HG02132.hp2 HG02300.hp2 HG02559.hp1 HG03209.hp2 HG03486.hp2 HG03491.hp2 HG03942.hp1 NA18941.hp1 NA18948.hp1 NA18959.hp1 NA18959.hp2 NA18975.hp1 NA19012.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(15): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0057 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0033 a0001c0002t0034 a0001c0002t0054 a0001c0004t0007	a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0004g0010 others(21): Show a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0009g0030 a0001c0001t0011g0069 a0001c0001t0011g0070 a0001c0001t0017g0065 a0001c0001t0024g0014 a0001c0001t0027g0009 a0001c0001t0028g0008 a0001c0001t0057g0038 a0001c0002t0002g0086 a0001c0002t0003g0079 a0001c0002t0003g0094 a0001c0002t0005g0084 a0001c0002t0007g0089 a0001c0002t0008g0078 a0001c0002t0008g0091 a0001c0002t0033g0097 a0001c0002t0034g0098 a0001c0002t0054g0092 a0001c0004t0007g0090 a0001c0004t0007g0093	24	116	0.2069	-34	c.832 others(53): Show c.832+53694_832+53727delTATATATATATATATATATATATATA TATATATA		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22						chr2	TogoVar

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