Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NLRP2_chr19_54961374_55006138	55006088	CAGAAGAC others(33): Show CAGAAGACAGGAAGTGAAGTAAGAAGACAGGAAGTGGTTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0282 a0003c0005t0001g0282	1	429	0.0023	-40	c.51 others(51): Show c.5191_*5230delAGAAGACAGGAAGTGAAGTAAGAAGACAGGAAGT GGTTGT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding		4951		chr19	TogoVar
NLRP4_chr19_55831540_55886855	55849759	ATGTAATT others(33): Show ATGTAATTTCTGTAGCTGCGGTGTAATTTCCAAAGCTGCGG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03098.hp2 others(1): Show HG02896.hp2 HG02897.hp1 HG03098.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 a0001c0001 a0002c0002 a0002c0009	a0001c0001t0012 a0002c0002t0007 a0002c0009t0007 a0001c0001t0012 a0002c0002t0007 a0002c0009t0007	a0001c0001t0012g0018 a0002c0002t0007g0408 a0002c0009t0007g0019 others(1): Show a0001c0001t0012g0018 a0002c0002t0007g0408 a0002c0009t0007g0019 a0002c0009t0007g0020	4	424	0.0094	-40	c.-65 others(57): Show c.-65-2247_-65-2208delTGTAGCTGCGGTGTAATTTCCAAAGCTG CGGTGTAATTTC	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55849813	GCTGCGGT others(33): Show GCTGCGGTGTAATTTCCGAAGCTGCGGTGTAATTTCCGAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	424	0.0024	-40	c.-65 others(57): Show c.-65-2185_-65-2146delAAGCTGCGGTGTAATTTCCGAGACTGCG GTGTAATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850112	TAGCTGCG others(33): Show TAGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02165.hp1 NA18950.hp2 others(3): Show HG00544.hp1 HG02165.hp1 NA18950.hp2 NA18961.hp2 NA19081.hp1 NA19088.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0005 a0002c0016 a0005c0020 a0001c0005 a0002c0016 a0005c0020	a0001c0005t0002 a0002c0016t0004 a0002c0016t0006 others(3): Show a0001c0005t0002 a0002c0016t0004 a0002c0016t0006 a0002c0016t0014 a0005c0020t0002 a0005c0020t0014	a0001c0005t0002g0136 a0002c0016t0004g0158 a0002c0016t0006g0135 others(3): Show a0001c0005t0002g0136 a0002c0016t0004g0158 a0002c0016t0006g0135 a0002c0016t0014g0215 a0005c0020t0002g0316 a0005c0020t0014g0211	6	424	0.0142	-40	c.-65 others(57): Show c.-65-1903_-65-1864delAGCTGCGGTGTAATTTCCGTGGCTGCGG TGTAATTTCCGA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850113	AGCTGCGG others(33): Show AGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18942.hp1 NA18959.hp1 others(1): Show HG00673.hp2 NA18942.hp1 NA18959.hp1 NA18978.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0004 a0005c0012t0002 a0001c0001t0004 a0005c0012t0002	a0001c0001t0004g0023 a0001c0001t0004g0024 a0005c0012t0002g0128 others(1): Show a0001c0001t0004g0023 a0001c0001t0004g0024 a0005c0012t0002g0128 a0005c0012t0002g0264	4	424	0.0094	-40	c.-65 others(57): Show c.-65-1864_-65-1825delAGGCTGCGGTGTAATTTCCGTGGCTGCG GTGTAATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850247	TTCCGAGG others(33): Show TTCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03139.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0394 a0001c0005t0001g0395 a0001c0005t0001g0394 a0001c0005t0001g0395	2	424	0.0047	-40	c.-65 others(57): Show c.-65-1764_-65-1725delAGGCTGCGGTGTAATTTCCGAGGCTGCG GTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850347	TTCCGAGG others(33): Show TTCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATG	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0020 a0002c0017t0020	a0002c0017t0020g0284 a0002c0017t0020g0284	1	424	0.0024	-40	c.-65 others(57): Show c.-65-1664_-65-1625delAGGCTGCGGTGTAATTTCCGAGGCTGCG GTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850407	GTCCGTGG others(33): Show GTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02148.hp2 HG01175.hp1 HG02148.hp2	a0003 a0006 a0003 a0006	a0003c0007 a0006c0014 a0003c0007 a0006c0014	a0003c0007t0002 a0006c0014t0003 a0003c0007t0002 a0006c0014t0003	a0003c0007t0002g0270 a0006c0014t0003g0197 a0003c0007t0002g0270 a0006c0014t0003g0197	2	424	0.0047	-40	c.-65 others(57): Show c.-65-1589_-65-1550delGTCCGTGGCTGCGGTGTAATTTCCGTGG CTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850572	TGGCTGCG others(33): Show TGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTACGA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0007 a0001c0033t0007	a0001c0033t0007g0343 a0001c0033t0007g0343	1	424	0.0024	-40	c.-65 others(57): Show c.-65-1429_-65-1390delTTCCGTGGCTGCGGTGTAATTTACGAGG CTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850592	TGGCTGCG others(33): Show TGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0412 a0001c0005t0003g0412	1	424	0.0024	-40	c.-65 others(57): Show c.-65-1409_-65-1370delTTACGAGGCTGCGGTGTAATGTCCGAGG CTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850829	CCGAGGCT others(33): Show CCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp2 HG03130.hp2 HG02280.hp2 HG02809.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0002c0002t0011 a0001c0001t0001 a0001c0005t0001 a0002c0002t0011	a0001c0001t0001g0396 a0001c0005t0001g0397 a0002c0002t0011g0016 a0001c0001t0001g0396 a0001c0005t0001g0397 a0002c0002t0011g0016	3	424	0.0071	-40	c.-65 others(57): Show c.-65-1169_-65-1130delTTACGAGGCTGCGGTGTAATTTACGAGG CTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850869	ACGAGGCT others(33): Show ACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0007 a0015c0030t0007	a0015c0030t0007g0331 a0015c0030t0007g0331	1	424	0.0024	-40	c.-65 others(57): Show c.-65-1069_-65-1030delGTCCGAGGCTGCGGTGTAATGTCCGTGG CTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851109	CCGTGGCT others(33): Show CCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03540.hp1 HG03041.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0001 a0002c0002t0004 a0001c0005t0001 a0002c0002t0004	a0001c0005t0001g0395 a0002c0002t0004g0049 a0001c0005t0001g0395 a0002c0002t0004g0049	2	424	0.0047	-40	c.-65 others(55): Show c.-65-904_-65-865delTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATTTACG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851229	CCGAGGCT others(33): Show CCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 NA18522.hp2 others(4): Show HG00741.hp1 HG01175.hp1 NA18522.hp2 NA18949.hp1 NA19004.hp2 NA19009.hp1 NA19043.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0005 a0002c0003 others(2): Show a0001c0001 a0001c0005 a0002c0003 a0004c0004 a0006c0014	a0001c0001t0003 a0001c0005t0001 a0002c0003t0008 others(3): Show a0001c0001t0003 a0001c0005t0001 a0002c0003t0008 a0004c0004t0003 a0006c0014t0002 a0006c0014t0003	a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0005t0001g0387 others(4): Show a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0005t0001g0387 a0002c0003t0008g0330 a0004c0004t0003g0214 a0006c0014t0002g0386 a0006c0014t0003g0197	7	424	0.0165	-40	c.-65 others(55): Show c.-65-769_-65-730delTTACGAGGCTGCGGTGTAATTTACGAGGCT GCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851332	TGGCTGCG others(33): Show TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01346.hp2 others(10): Show HG01109.hp2 HG01243.hp1 HG01346.hp2 HG01978.hp1 HG02004.hp2 HG02165.hp2 HG02976.hp2 NA18949.hp1 NA19004.hp2 NA19009.hp1 NA19043.hp1 NA19057.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0009 a0004c0004 a0005c0010 a0005c0012	a0001c0001t0003 a0002c0002t0005 a0002c0002t0009 others(8): Show a0001c0001t0003 a0002c0002t0005 a0002c0002t0009 a0002c0003t0008 a0002c0009t0001 a0002c0009t0009 a0002c0009t0013 a0002c0009t0024 a0004c0004t0003 a0005c0010t0003 a0005c0012t0002	a0001c0001t0003g0181 a0001c0001t0003g0183 a0002c0002t0005g0368 others(10): Show a0001c0001t0003g0181 a0001c0001t0003g0183 a0002c0002t0005g0368 a0002c0002t0009g0236 a0002c0003t0008g0330 a0002c0009t0001g0051 a0002c0009t0009g0240 a0002c0009t0013g0227 a0002c0009t0013g0228 a0002c0009t0024g0239 a0004c0004t0003g0214 a0005c0010t0003g0198 a0005c0012t0002g0275	13	424	0.0307	-40	c.-65 others(55): Show c.-65-664_-65-625delTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851389	CCGAGGCT others(33): Show CCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTA	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19000.hp1 NA18967.hp2 NA19000.hp1	a0003 a0004 a0003 a0004	a0003c0008 a0004c0004 a0003c0008 a0004c0004	a0003c0008t0001 a0004c0004t0003 a0003c0008t0001 a0004c0004t0003	a0003c0008t0001g0172 a0004c0004t0003g0192 a0003c0008t0001g0172 a0004c0004t0003g0192	2	424	0.0047	-40	c.-65 others(55): Show c.-65-609_-65-570delTTACGAGGCTGCGGTGTAATTTACGAGGCT GCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851613	TGGCTGCG others(33): Show TGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01099.hp2 others(13): Show HG00642.hp1 HG00733.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01934.hp1 HG01934.hp2 HG02083.hp2 HG02132.hp2 HG02698.hp1 HG02809.hp2 NA19043.hp1 NA19060.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0006 a0002c0002 others(5): Show a0001c0001 a0001c0006 a0002c0002 a0002c0003 a0002c0028 a0004c0004 a0004c0013 a0005c0010	a0001c0001t0001 a0001c0006t0003 a0002c0002t0006 others(6): Show a0001c0001t0001 a0001c0006t0003 a0002c0002t0006 a0002c0002t0011 a0002c0003t0008 a0002c0028t0001 a0004c0004t0001 a0004c0013t0001 a0005c0010t0002	a0001c0001t0001g0043 a0001c0001t0001g0146 a0001c0001t0001g0149 others(13): Show a0001c0001t0001g0043 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0006t0003g0218 a0002c0002t0006g0256 a0002c0002t0011g0016 a0002c0003t0008g0330 a0002c0028t0001g0033 a0002c0028t0001g0044 a0004c0004t0001g0045 a0004c0004t0001g0131 a0004c0013t0001g0076 a0004c0013t0001g0077 a0004c0013t0001g0078 a0005c0010t0002g0268 a0005c0010t0002g0269	16	424	0.0377	-40	c.-65 others(55): Show c.-65-328_-65-289delGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NME7_chr1_169127531_169372797	169342957	ATATATAT others(33): Show ATATATATATATATACAAGTACATATATATACTTGTATTAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01069.hp1 others(24): Show HG00280.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp2 HG02735.hp2 HG03041.hp1 NA18945.hp2 NA18965.hp1 NA18971.hp1 NA18974.hp2 NA18989.hp2 NA18990.hp1 NA19058.hp1 NA19085.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0002t0001g0233 a0001c0002t0001g0234 others(24): Show a0001c0001t0001g0011 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259	27	302	0.0894	-40	c.4-1 others(55): Show c.4-18497_4-18458delCTAATACAAGTATATATATGTACTTGTATA TATATATATA	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME8_chr7_37843597_37905397	37848245	GGAAGAAG others(33): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0003 a0013c0026t0003	a0013c0026t0003g0075 a0013c0026t0003g0075	1	388	0.0026	-40	c.-72 others(49): Show c.-723_-684delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAC	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		351		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183389736	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp2 HG03209.hp2 others(1): Show HG01123.hp2 HG01192.hp2 HG03209.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0001t0032 a0001c0001t0089 others(1): Show a0001c0001t0016 a0001c0001t0032 a0001c0001t0089 a0001c0003t0015	a0001c0001t0016g0194 a0001c0001t0032g0184 a0001c0001t0089g0085 others(1): Show a0001c0001t0016g0194 a0001c0001t0032g0184 a0001c0001t0089g0085 a0001c0003t0015g0224	4	258	0.0155	-40	c.85+ others(57): Show c.85+28407_85+28446delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139596916	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	322	0.0031	-40	c.110 others(59): Show c.110-17901_110-17862delTATATATATATATATATATATATATA TATATATATATATA	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6			chr3	TogoVar
NOD2_chr16_50688606_50738075	50693558	GCGGAGCC others(33): Show GCGGAGCCGAGCGCCCGCGCACCCGGAGCCGCAGCCCGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0097 a0001c0004t0002g0097	1	312	0.0032	-40	c.-11 others(48): Show c.-112_-73delCGGAGCCGAGCGCCCGCGCACCCGGAGCCGCAGCCCG AGC	NOD2	ENSG00000167207.15	transcript	ENST00000647318.2	protein_coding		47		chr16	TogoVar
NOL10_chr2_10565754_10694975	10638293	ATAACGTA others(33): Show ATAACGTAACGTGACGTGACGTGACGTGACGTGACGTGACG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18966.hp1 NA18981.hp2 others(4): Show HG02015.hp1 NA18966.hp1 NA18981.hp2 NA18988.hp1 NA18993.hp1 NA18999.hp1 NA19011.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0127 a0002c0003t0003g0129 a0002c0003t0003g0130 others(4): Show a0002c0003t0003g0127 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0140 a0002c0003t0003g0147 a0002c0003t0003g0149 a0002c0003t0003g0150	7	372	0.0188	-40	c.102 others(59): Show c.1026+5987_1026+6026delCGTCACGTCACGTCACGTCACGTCAC GTCACGTTACGTTA	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	13/20			chr2	TogoVar
NOL4L_chr20_32438059_32590333	32488787	CTTCCTTT others(33): Show CTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG03453.hp2 HG02055.hp2 HG02717.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0007 a0001c0001t0002 a0001c0005t0007	a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0005t0007g0141 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0005t0007g0141	3	196	0.0153	-40	c.700 others(59): Show c.700-14085_700-14046delAAGAAAGAAAGAAAGAAAGAAAAAGA AAGAAAGAAAGGAA	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488790	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	196	0.0051	-40	c.700 others(59): Show c.700-14088_700-14049delAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAGAAAG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32538445	TCCTCCCT others(33): Show TCCTCCCTCCCTCCCTCGCTCCCTCCCTCCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0112 a0001c0001t0011g0112	1	196	0.0051	-40	c.322 others(59): Show c.322-10572_322-10533delGAGGGAGGGAGGGAGGGAGGGAGCGA GGGAGGGAGGGAGG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOS1_chr12_117203142_117366626	117321921	CCTCCTTC others(33): Show CCTCCTTCCTTCCCTCCCTCTCTCCTTCCTTCCCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18956.hp1 HG00408.hp1 NA18956.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0079 a0001c0006t0027 a0001c0006t0079	a0001c0006t0027g0097 a0001c0006t0079g0079 a0001c0006t0027g0097 a0001c0006t0079g0079	2	294	0.0068	-40	c.725 others(57): Show c.725+8384_725+8423delAGAGGGAGGGAAGGAAGGAGAGAGGGAG GGAAGGAAGGAG	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	2/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117321978	TTCTCTCC others(33): Show TTCTCTCCTTCCTTCCCTCCCTCTCTCCTTCCTTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00609.hp2 others(116): Show HG00323.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18965.hp1 NA18967.hp2 NA18989.hp1 NA18989.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19057.hp1 NA19068.hp1 NA19074.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0002c0034 a0002c0035 a0007c0026 a0009c0021 a0011c0019 a0012c0018	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(88): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0023 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0041 a0001c0001t0042 a0001c0001t0050 a0001c0001t0055 a0001c0001t0061 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0001t0074 a0001c0001t0082 a0001c0001t0099 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0111 a0001c0001t0116 a0001c0001t0119 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0128 a0001c0001t0137 a0001c0001t0142 a0001c0001t0143 a0001c0001t0175 a0001c0001t0178 a0001c0002t0001 a0001c0002t0007 a0001c0002t0016 a0001c0002t0019 a0001c0002t0020 a0001c0002t0052 a0001c0002t0096 a0001c0002t0145 a0001c0002t0158 a0001c0002t0164 a0001c0003t0001 a0001c0003t0152 a0001c0003t0156 a0001c0003t0161 a0001c0003t0162 a0001c0004t0005 a0001c0004t0034 a0001c0004t0109 a0001c0004t0133 a0001c0004t0134 a0001c0004t0135 a0001c0004t0136 a0001c0004t0138 a0001c0004t0140 a0001c0004t0141 a0001c0005t0003 a0001c0005t0010 a0001c0005t0028 a0001c0005t0030 a0001c0005t0085 a0001c0005t0110 a0001c0006t0048 a0001c0006t0093 a0001c0007t0043 a0001c0008t0021 a0001c0008t0025 a0001c0008t0130 a0001c0009t0012 a0001c0009t0166 a0001c0010t0088 a0001c0010t0089 a0001c0011t0016 a0001c0011t0149 a0001c0013t0127 a0001c0013t0129 a0001c0014t0073 a0001c0014t0077 a0001c0015t0054 a0001c0015t0169 a0001c0017t0001 a0002c0034t0182 a0002c0035t0181 a0007c0026t0008 a0009c0021t0072 a0011c0019t0177 a0012c0018t0003	a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0076 others(116): Show a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0089 a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0210 a0001c0001t0006g0265 a0001c0001t0011g0162 a0001c0001t0011g0163 a0001c0001t0011g0164 a0001c0001t0015g0108 a0001c0001t0015g0236 a0001c0001t0023g0211 a0001c0001t0025g0256 a0001c0001t0032g0095 a0001c0001t0033g0201 a0001c0001t0041g0024 a0001c0001t0042g0025 a0001c0001t0050g0008 a0001c0001t0055g0087 a0001c0001t0061g0153 a0001c0001t0066g0278 a0001c0001t0067g0131 a0001c0001t0071g0130 a0001c0001t0074g0158 a0001c0001t0082g0261 a0001c0001t0099g0036 a0001c0001t0102g0284 a0001c0001t0104g0140 a0001c0001t0105g0138 a0001c0001t0106g0137 a0001c0001t0111g0193 a0001c0001t0116g0037 a0001c0001t0119g0111 a0001c0001t0123g0170 a0001c0001t0124g0132 a0001c0001t0125g0166 a0001c0001t0128g0218 a0001c0001t0137g0110 a0001c0001t0142g0072 a0001c0001t0143g0190 a0001c0001t0175g0283 a0001c0001t0178g0107 a0001c0002t0001g0034 a0001c0002t0001g0216 a0001c0002t0001g0225 a0001c0002t0007g0018 a0001c0002t0007g0019 a0001c0002t0007g0021 a0001c0002t0016g0242 a0001c0002t0019g0005 a0001c0002t0019g0023 a0001c0002t0020g0007 a0001c0002t0020g0017 a0001c0002t0052g0006 a0001c0002t0096g0192 a0001c0002t0145g0083 a0001c0002t0158g0205 a0001c0002t0164g0189 a0001c0003t0001g0272 a0001c0003t0152g0249 a0001c0003t0156g0202 a0001c0003t0161g0271 a0001c0003t0162g0247 a0001c0004t0005g0149 a0001c0004t0005g0232 a0001c0004t0005g0248 a0001c0004t0005g0262 a0001c0004t0005g0263 a0001c0004t0005g0264 a0001c0004t0034g0266 a0001c0004t0034g0267 a0001c0004t0109g0227 a0001c0004t0133g0277 a0001c0004t0134g0212 a0001c0004t0135g0235 a0001c0004t0136g0204 a0001c0004t0138g0223 a0001c0004t0140g0159 a0001c0004t0141g0200 a0001c0005t0003g0081 a0001c0005t0003g0135 a0001c0005t0003g0151 a0001c0005t0003g0155 a0001c0005t0010g0134 a0001c0005t0028g0090 a0001c0005t0028g0121 a0001c0005t0030g0115 a0001c0005t0030g0143 a0001c0005t0085g0128 a0001c0005t0110g0040 a0001c0006t0048g0020 a0001c0006t0093g0167 a0001c0007t0043g0003 a0001c0008t0021g0002 a0001c0008t0025g0035 a0001c0008t0130g0154 a0001c0009t0012g0282 a0001c0009t0166g0203 a0001c0010t0088g0171 a0001c0010t0089g0288 a0001c0011t0016g0168 a0001c0011t0149g0136 a0001c0013t0127g0233 a0001c0013t0129g0221 a0001c0014t0073g0038 a0001c0014t0077g0152 a0001c0015t0054g0010 a0001c0015t0169g0209 a0001c0017t0001g0123 a0002c0034t0182g0047 a0002c0035t0181g0043 a0007c0026t0008g0042 a0009c0021t0072g0088 a0011c0019t0177g0105 a0012c0018t0003g0133	119	294	0.4048	-40	c.725 others(57): Show c.725+8327_725+8366delGGGAGGGAAGGAAGGAGAGAGGGAGGGA AGGAAGGAGAGA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	2/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117359874	TTTTATAT others(33): Show TTTTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18961.hp1 NA18983.hp2 NA18947.hp2 NA18961.hp1 NA18983.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0010 a0001c0005t0003 a0001c0005t0010	a0001c0005t0003g0031 a0001c0005t0003g0033 a0001c0005t0010g0032 a0001c0005t0003g0031 a0001c0005t0003g0033 a0001c0005t0010g0032	3	294	0.0102	-40	c.-42 others(59): Show c.-421+1598_-421+1637delTATATATATATATATATATATATATA TATATATATATAAA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117359876	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0107 a0001c0036t0107	a0001c0036t0107g0169 a0001c0036t0107g0169	1	294	0.0034	-40	c.-42 others(59): Show c.-421+1596_-421+1635delTATATATATATATATATATATATATA TATATATATATATA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS3_chr7_150986017_151019588	151002383	AACACACA others(33): Show AACACACACACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	382	0.0026	-40	c.175 others(57): Show c.1752+110_1752+149delACACACACACACACACACACACACACAC ACACACACACAC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH2_chr1_119906553_120074662	119999948	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp1 HG01891.hp2 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0004 a0001c0021t0004 a0001c0004t0004 a0001c0021t0004	a0001c0004t0004g0127 a0001c0021t0004g0122 a0001c0004t0004g0127 a0001c0021t0004g0122	2	168	0.0119	-40	c.416 others(57): Show c.416-2656_416-2617delCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	3/33			chr1	TogoVar
NPAS3_chr14_32933879_33809173	33543946	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0046 a0002c0002t0055g0046	1	92	0.0109	-40	c.469 others(59): Show c.469-16158_469-16119delATATATATATATATATATATATATAT ATATATATATATAT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPHP4_chr1_5857811_5997425	5879809	ACACGCAA others(33): Show ACACGCAAACACACACACACACGCAAACACACACAGACACG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02896.hp2 others(1): Show HG02055.hp1 HG02451.hp1 HG02896.hp2 HG03453.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0022 a0001c0003 a0010c0022	a0001c0003t0002 a0010c0022t0005 a0001c0003t0002 a0010c0022t0005	a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 others(1): Show a0001c0003t0002g0157 a0001c0003t0002g0203 a0001c0003t0002g0204 a0010c0022t0005g0207	4	208	0.0192	-40	c.261 others(57): Show c.2611+265_2611+304delCGTGTCTGTGTGTGTTTGCGTGTGTGTG TGTGTTTGCGTG	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	19/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5952554	CCCCTGCC others(33): Show CCCCTGCCCCACCCACCCCTACCCTGCCCCACCCACCCCTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0001 a0015c0030t0001	a0015c0030t0001g0138 a0015c0030t0001g0138	1	208	0.0048	-40	c.810 others(55): Show c.810+106_810+145delTAGGGGTGGGTGGGGCAGGGTAGGGGTGGG TGGGGCAGGG	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	7/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5997259	CTGGGACC others(33): Show CTGGGACCTCTTGGCAGTCTCTCAGCTGGAGAGCCCTGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	208	0.0048	-40	c.-50 others(51): Show c.-5094_-5055delCAGCAGGGCTCTCCAGCTGAGAGACTGCCAAGAG GTCCCA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding		4835		chr1	TogoVar
NPNT_chr4_105890471_105976671	105898290	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02559.hp2 others(3): Show HG01884.hp2 HG02145.hp2 HG02559.hp2 HG02723.hp2 NA18522.hp1 NA21309.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0001 a0005c0005t0002 a0003c0003t0001 a0005c0005t0001 a0005c0005t0002	a0003c0003t0001g0114 a0003c0003t0001g0219 a0005c0005t0001g0132 others(3): Show a0003c0003t0001g0114 a0003c0003t0001g0219 a0005c0005t0001g0132 a0005c0005t0001g0134 a0005c0005t0001g0135 a0005c0005t0002g0133	6	236	0.0254	-40	c.172 others(55): Show c.172+311_172+350delGTCTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTCTCT	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPY4R_chr10_46456099_46470958	46466246	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0044 a0005c0015t0001g0044	1	290	0.0035	-40	c.-82 others(49): Show c.-824_-785delGAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAG AAAG	NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding		289		chr10	TogoVar
NR0B1_chrX_30299206_30314390	30301300	GAGGGAGG others(33): Show GAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0053 a0001c0013t0001g0053	1	322	0.0031	-40	c.32 others(51): Show c.3239_*3278delTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCT	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		2905		chrX	TogoVar
NR1H3_chr11_47252996_47274033	47255571	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01081.hp1 others(11): Show HG00280.hp2 HG01070.hp1 HG01081.hp1 HG01192.hp1 HG01496.hp1 HG02602.hp2 HG02738.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0028 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042	14	368	0.0380	-40	c.-25 others(51): Show c.-2595_-2556delTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC TCTCTC	NR1H3	ENSG00000025434.19	transcript	ENST00000441012.7	protein_coding		2424		chr11	TogoVar
NR1H4_chr12_100468866_100569414	100513801	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp1 others(40): Show HG00408.hp2 HG00423.hp2 HG00558.hp1 HG02083.hp2 HG02132.hp1 HG02698.hp1 HG02735.hp2 HG03669.hp1 HG03834.hp1 NA18944.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19077.hp1 NA19081.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0034 others(37): Show a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0103 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157	43	308	0.1396	-40	c.445 others(57): Show c.445+2689_445+2728delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAA	NR1H4	ENSG00000012504.15	transcript	ENST00000392986.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NRBP1_chr2_27423631_27447259	27427281	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	276	0.0036	-40	c.-14 others(51): Show c.-1470_-1431delTATATATATATATATATATATATATATATATTTT TTTTTT	NRBP1	ENSG00000115216.14	transcript	ENST00000379852.8	protein_coding		1349		chr2	TogoVar
NRDC_chr1_51784210_51883727	51844817	AGAAGGAA others(33): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	244	0.0041	-40	c.342 others(57): Show c.342-4343_342-4304delCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRG3_chr10_81870194_82992178	82102113	CATATATA others(33): Show CATATATATATATGTGTATTCATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG02280.hp1 others(6): Show HG00642.hp2 HG01081.hp1 HG02280.hp1 HG02622.hp2 HG02896.hp2 HG03139.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0002t0006 a0002c0003t0004 a0003c0004t0001 a0004c0006t0008	a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0005g0003 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0005g0003 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0006g0042 a0002c0003t0004g0027 a0003c0004t0001g0065 a0004c0006t0008g0022	9	66	0.1364	-40	c.823 others(61): Show c.823+225963_823+226002delGTGTATTCATATATATATATATAT ATATATATATATATAT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRXN1_chr2_49913503_51037132	50239662	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20300.hp1 HG02258.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0046 a0001c0001t0014g0022 a0001c0001t0005g0046 a0001c0001t0014g0022	2	116	0.0172	-40	c.336 others(59): Show c.3365-2732_3365-2693delTATATATATATATATATATATATATA TATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50399789	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19030.hp2 HG02647.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0047 a0001c0001t0035 a0001c0002t0047	a0001c0001t0035g0061 a0001c0002t0047g0102 a0001c0001t0035g0061 a0001c0002t0047g0102	2	116	0.0172	-40	c.336 others(61): Show c.3364+65613_3364+65652delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50828445	GGGCGGAG others(33): Show GGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0060 a0003c0007t0060	a0003c0007t0060g0113 a0003c0007t0060g0113	1	116	0.0086	-40	c.832 others(59): Show c.832+93384_832+93423delTGGCAACCGCCCCGTCTGAGAAGTGA GGAGCCCCTCCGCC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NSD2_chr4_1866393_1987192	1951443	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19030.hp2 HG03098.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0015 a0001c0002t0005 a0001c0002t0015	a0001c0002t0005g0001 a0001c0002t0015g0002 a0001c0002t0005g0001 a0001c0002t0015g0002	2	130	0.0154	-40	c.201 others(57): Show c.2013+282_2013+321delCACACACACACACACACACACACACACA CACACACACACA	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSMCE1_chr16_27219994_27273772	27261172	AAAAAAAA others(33): Show AAAAAAAAAAAAGAAACTATAAAAAGAACTACAAATTAAAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	334	0.0030	-40	c.-11 others(57): Show c.-11-3631_-11-3592delATTTAATTTGTAGTTCTTTTTATAGTTT CTTTTTTTTTTT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	1/7			chr16	TogoVar
NSUN7_chr4_40744955_40816184	40757588	CACATTGT others(33): Show CACATTGTGTGTATATATATACATTGTGTGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0242 a0001c0001t0007g0242	1	392	0.0026	-40	c.299 others(57): Show c.299-2817_299-2778delGTATATATATATACATTGTGTGTATATA TATACATTGTGT	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar

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