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
NRROS_chr3_196634694_196667004	196634767	G G	GGAGAAGT others(22): Show GGAGAAGTGGGGGCTAGAGAAGTGGAGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02083.hp2 HG02735.hp2 others(11): Show HG00099.hp1 HG02083.hp2 HG02735.hp2 HG03239.hp2 HG03490.hp2 HG03654.hp2 HG03927.hp1 HG04204.hp1 NA18945.hp2 NA18980.hp2 NA18985.hp2 NA18997.hp2 NA18999.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0004t0002 a0002c0003t0002	a0001c0001t0001g0263 a0001c0001t0002g0031 a0001c0001t0002g0358 others(10): Show a0001c0001t0001g0263 a0001c0001t0002g0031 a0001c0001t0002g0358 a0001c0001t0002g0361 a0001c0001t0002g0366 a0001c0001t0002g0371 a0001c0001t0002g0382 a0001c0001t0002g0385 a0001c0001t0003g0220 a0001c0001t0004g0370 a0001c0002t0002g0384 a0001c0004t0002g0359 a0002c0003t0002g0383	14	472	0.0297	29	c.-51 others(40): Show c.-5122_-5121insGAGAAGTGGGGGCTAGAGAAGTGGAGGCT	NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding		4926		chr3	TogoVar
NRROS_chr3_196634694_196667004	196634768	G G	GAGAAGTG others(22): Show GAGAAGTGGGGTCTGGAGAAGTGGGGGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	472	0.0021	29	c.-51 others(40): Show c.-5121_-5120insAGAAGTGGGGTCTGGAGAAGTGGGGGCTA	NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding		4925		chr3	TogoVar
NRXN1_chr2_49913503_51037132	50019641	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0109 a0001c0002t0048g0109	1	116	0.0086	29	c.412 others(50): Show c.4128+33629_4128+33630insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	21/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334192	A A	AATTTTAT others(22): Show AATTTTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0097 a0001c0002t0033g0097	1	116	0.0086	29	c.336 others(50): Show c.3365-97223_3365-97222insATATATATATATATATATATATAT AAAAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50658439	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	116	0.0086	29	c.833 others(48): Show c.833-34825_833-34824insCACACACACACACACACACACACACA CAC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp1 HG02970.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0048 a0001c0002t0001 a0001c0002t0048	a0001c0002t0001g0112 a0001c0002t0048g0109 a0001c0002t0001g0112 a0001c0002t0048g0109	2	116	0.0172	29	c.833 others(48): Show c.833-60032_833-60031insATATATATATATTTTTTTTTTTTTTT TTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0066 a0001c0001t0017g0066	1	116	0.0086	29	c.833 others(48): Show c.833-60032_833-60031insATATATATATATATATTTTTTTTTTT TTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0012 a0001c0001t0025g0012	1	116	0.0086	29	c.833 others(48): Show c.833-60032_833-60031insATATATATATATATATATTTTTTTTT TTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	116	0.0086	29	c.833 others(48): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NSD1_chr5_177128773_177305213	177264028	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02280.hp2 HG01256.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0292 a0001c0001t0011g0173 a0001c0001t0002g0292 a0001c0001t0011g0173	2	298	0.0067	29	c.514 others(48): Show c.5147-3508_5147-3507insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSMCE1_chr16_27219994_27273772	27251161	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	334	0.0030	29	c.136 others(46): Show c.136+6245_136+6273dupTATATATATATATATATATATATATATA T	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0333 a0004c0004t0013g0333	1	388	0.0026	29	c.754 others(44): Show c.754-454_754-453insAAAAAAAAAAATATATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18955.hp2 NA18970.hp2 others(1): Show HG02280.hp1 NA18955.hp2 NA18970.hp2 NA19005.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0008 a0003c0003t0003 a0003c0003t0008	a0003c0003t0003g0020 a0003c0003t0003g0162 a0003c0003t0003g0183 others(1): Show a0003c0003t0003g0020 a0003c0003t0003g0162 a0003c0003t0003g0183 a0003c0003t0008g0020	4	388	0.0103	29	c.754 others(44): Show c.754-454_754-453insAAAAAAAAATATATATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18561703	A A	AATGGAAT others(22): Show AATGGAATAGAATGGAGAAAGGAATAGAAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	346	0.0029	29	c.923 others(46): Show c.923-9761_923-9733dupATTCTATTCCTTTCTCCATTCTATTCCA T	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19084.hp1 NA18947.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0128 a0001c0001t0018g0123 a0001c0001t0001g0128 a0001c0001t0018g0123	2	346	0.0058	29	c.658 others(46): Show c.658-4615_658-4614insATATATATATATATATATATATATATAT T	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN7_chr4_40744955_40816184	40762869	A A	AGATGATC others(22): Show AGATGATCCTTATGAGATCATCTAATGCTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp1 HG01192.hp2 others(15): Show HG00735.hp2 HG01123.hp1 HG01192.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp1 HG02004.hp2 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG03041.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA21309.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0009 a0001c0001 a0019c0009	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0001t0027 a0019c0009t0007	a0001c0001t0001g0337 a0001c0001t0009g0193 a0001c0001t0009g0335 others(15): Show a0001c0001t0001g0337 a0001c0001t0009g0193 a0001c0001t0009g0335 a0001c0001t0009g0336 a0001c0001t0009g0338 a0001c0001t0009g0339 a0001c0001t0009g0345 a0001c0001t0012g0175 a0001c0001t0012g0330 a0001c0001t0012g0344 a0001c0001t0013g0334 a0001c0001t0013g0341 a0001c0001t0013g0346 a0001c0001t0017g0180 a0001c0001t0017g0343 a0001c0001t0020g0331 a0001c0001t0027g0342 a0019c0009t0007g0332	18	392	0.0459	29	c.488 others(46): Show c.488+1605_488+1633dupCTTATGAGATCATCTAATGCTTGATGAT C	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NT5C2_chr10_103083038_103198272	103183275	A A	AATATATA others(22): Show AATATATATATATTTTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0076 a0001c0002t0003g0076	1	340	0.0029	29	c.-16 others(48): Show c.-168-1948_-168-1947insATATATATATATATAAAATATATATA TAT	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NT5DC1_chr6_116095853_116254497	116227665	A A	ATGAGGTG others(22): Show ATGAGGTGATATCTCATTATGGTTTTAATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0247 a0001c0001t0014g0247	1	300	0.0033	29	c.802 others(46): Show c.802+4537_802+4565dupAGGTGATATCTCATTATGGTTTTAATTT G	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NTM_chr11_131365615_132341822	131730719	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	86	0.0116	29	c.83- others(48): Show c.83-180841_83-180840insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131730721	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA20905.hp2 HG00558.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0084 a0001c0001t0003g0056 a0001c0001t0001g0084 a0001c0001t0003g0056	2	86	0.0233	29	c.83- others(48): Show c.83-180841_83-180840insAAAAAAAAAAAAAAAAAAAAAAAAAA GAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCACACA others(22): Show CTCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01081.hp2 others(9): Show HG00733.hp2 HG00735.hp1 HG01081.hp2 HG01496.hp2 HG01978.hp2 HG03017.hp1 HG03491.hp1 HG03654.hp1 HG03710.hp2 NA18522.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0020 a0001c0001t0037 a0001c0003t0024	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 others(9): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0235 a0001c0001t0002g0060 a0001c0001t0006g0062 a0001c0001t0006g0170 a0001c0001t0016g0116 a0001c0001t0020g0064 a0001c0001t0037g0246 a0001c0003t0024g0111	12	258	0.0465	29	c.101 others(50): Show c.1018+14874_1018+14875insTCACACACACACACACACACACAC ACACA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCTCACA others(22): Show CTCTCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0190 a0001c0001t0034g0190	1	258	0.0039	29	c.101 others(50): Show c.1018+14874_1018+14875insTCTCACACACACACACACACACAC ACACA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTRK2_chr9_84664729_85032054	84888982	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	170	0.0059	29	c.163 others(50): Show c.1633+21577_1633+21578insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTSR1_chr20_62703836_62767771	62767602	A A	AAAGAAGA others(22): Show AAAGAAGAAAGAAAGAAAGAGAGAGAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	316	0.0032	29	c.73 others(40): Show c.7335_*7336insAAGAAGAAAGAAAGAAAGAGAGAGAGAAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4832		chr20	TogoVar
NUB1_chr7_151336812_151383449	151341725	C C	CGGCGGCG others(22): Show CGGCGGCGCGAAGGCGACAGCGGCGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18957.hp1 NA18949.hp2 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	2	418	0.0048	29	c.-12 others(38): Show c.-124_-123insGGCGGCGCGAAGGCGACAGCGGCGGCGGG	NUB1	ENSG00000013374.17	transcript	ENST00000568733.6	protein_coding		86		chr7	TogoVar
NUBPL_chr14_31556404_31866224	31841917	C C	CTTTTGTT others(22): Show CTTTTGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0228 a0001c0001t0005g0228	1	268	0.0037	29	c.694 others(46): Show c.694-4550_694-4549insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUDT13_chr10_73105455_73136823	73116876	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0172 a0002c0002t0003g0172	1	324	0.0031	29	c.83+ others(44): Show c.83+2456_83+2457insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	29	c.88 others(38): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		458		chr8	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18965.hp2 NA19091.hp2 HG01361.hp1 NA18965.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0024 a0001c0001t0057 a0001c0001t0003 a0001c0001t0024 a0001c0001t0057	a0001c0001t0003g0246 a0001c0001t0024g0118 a0001c0001t0057g0247 a0001c0001t0003g0246 a0001c0001t0024g0118 a0001c0001t0057g0247	3	270	0.0111	29	c.100 others(46): Show c.100-9227_100-9226insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351216	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0053 a0001c0001t0002 a0001c0001t0053	a0001c0001t0002g0172 a0001c0001t0053g0209 a0001c0001t0002g0172 a0001c0001t0053g0209	2	270	0.0074	29	c.100 others(46): Show c.100-9245_100-9244insGTTTTTTTTTTTTTGTTTTTTTTTTTTT T	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT5_chr10_12160330_12200891	12200120	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	394	0.0025	29	c.-43 others(40): Show c.-4393_-4392insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NUDT5	ENSG00000165609.14	transcript	ENST00000491614.6	protein_coding		4230		chr10	TogoVar
NUDT6_chr4_122887577_122927597	122899044	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0190 a0002c0001t0001g0190	1	368	0.0027	29	c.499 others(46): Show c.499-1367_499-1366insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	NUDT6	ENSG00000170917.14	transcript	ENST00000304430.10	protein_coding	3/4			chr4	TogoVar
NUMB_chr14_73270216_73463546	73353072	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	322	0.0031	29	c.126 others(46): Show c.126+2525_126+2553dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229449873	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0269 a0003c0003t0013g0269	1	276	0.0036	29	c.318 others(46): Show c.3180+651_3180+652insAAAAAAATATATATATATATATATATAT A	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	23/25			chr1	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	300	0.0033	29	c.393 others(46): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(22): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	338	0.0030	29	c.38 others(40): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19000.hp1 NA19240.hp2 HG03540.hp1 NA19000.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0058 a0001c0001t0001g0108 a0001c0002t0001g0006 a0001c0001t0001g0058 a0001c0001t0001g0108 a0001c0002t0001g0006	3	296	0.0101	29	c.196 others(46): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135570871	A A	ATATATGT others(22): Show ATATATGTAATATATTATATATTATATATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00558.hp2 others(70): Show HG00280.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01928.hp1 HG01978.hp2 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02523.hp2 HG02698.hp2 HG02965.hp1 HG03239.hp2 HG03471.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA19004.hp2 NA19005.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1	a0001 a0008 a0010 others(1): Show a0001 a0008 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0026 a0001c0034 a0001c0037 a0008c0022 a0010c0024 a0011c0028	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0004t0002 a0001c0008t0001 a0001c0026t0001 a0001c0034t0001 a0001c0037t0002 a0008c0022t0001 a0010c0024t0001 a0011c0028t0001	a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0145 others(70): Show a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0175 a0001c0001t0001g0336 a0001c0002t0001g0299 a0001c0002t0001g0347 a0001c0003t0001g0033 a0001c0003t0001g0101 a0001c0003t0001g0167 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0316 a0001c0003t0001g0318 a0001c0003t0001g0320 a0001c0003t0001g0321 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0326 a0001c0003t0001g0328 a0001c0003t0001g0330 a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0333 a0001c0003t0001g0334 a0001c0003t0001g0335 a0001c0003t0001g0337 a0001c0003t0001g0338 a0001c0003t0001g0339 a0001c0003t0001g0340 a0001c0003t0001g0341 a0001c0003t0001g0344 a0001c0003t0001g0345 a0001c0003t0001g0346 a0001c0003t0005g0179 a0001c0004t0002g0322 a0001c0004t0002g0329 a0001c0004t0002g0343 a0001c0008t0001g0302 a0001c0008t0001g0305 a0001c0008t0001g0317 a0001c0026t0001g0327 a0001c0034t0001g0134 a0001c0037t0002g0342 a0008c0022t0001g0034 a0010c0024t0001g0319 a0011c0028t0001g0268	73	352	0.2074	29	c.29- others(42): Show c.29-228_29-200dupGTAATATATTATATATTATATATTTATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP214_chr9_131120586_131239663	131130137	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18983.hp2 HG02451.hp2 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0002 a0001c0004t0001 a0001c0005t0002	a0001c0004t0001g0197 a0001c0005t0002g0206 a0001c0004t0001g0197 a0001c0005t0002g0206	2	234	0.0086	29	c.593 others(44): Show c.593-616_593-615insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(22): Show ATTTATTTATTTATTTATTTATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02027.hp1 HG01243.hp2 HG02027.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0095 a0002c0003t0001g0043 a0001c0001t0001g0095 a0002c0003t0001g0043	2	234	0.0086	29	c.590 others(46): Show c.5902+800_5902+801insATTTATTTATTTATTTATTTTTTTTTTT T	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(22): Show ATTTATTTATTTATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0021 a0005c0008t0001g0021	1	234	0.0043	29	c.590 others(46): Show c.5902+800_5902+801insATTTATTTATTTTTTTTTTTTTTTTTTT T	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	234	0.0043	29	c.590 others(46): Show c.5902+822_5902+823insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP62CL_chrX_107118427_107211433	107189868	A A	AGGAAGGA others(22): Show AGGAAGGAAAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	280	0.0036	29	c.-48 others(46): Show c.-48+3160_-48+3161insCTTTCTTTCTTTTCTTTCTTTTTCCTTC C	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	2/8			chrX	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0009 a0015c0030t0009	a0015c0030t0009g0168 a0015c0030t0009g0168	1	342	0.0029	29	c.274 others(48): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA19011.hp2 HG00639.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0002g0317 a0001c0001t0001g0061 a0001c0001t0002g0317	2	342	0.0059	29	c.173 others(48): Show c.1730+1675_1730+1676insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535555	C C	CTTTCCTT others(22): Show CTTTCCTTCTTTCTTTCTTTCTTTCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0067 a0001c0001t0069g0067	1	368	0.0027	29	c.21 others(40): Show c.2127_*2128insAGAAAGAAAGAAAGAAAGAAAGAAGGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2463		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535564	C C	CTTCTTTC others(22): Show CTTCTTTCTTTCTTTCTTTCTTTTCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0081 a0001c0001t0085g0081	1	368	0.0027	29	c.21 others(40): Show c.2118_*2119insAGAAAGAAAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2454		chr16	TogoVar
NUTM2F_chr9_94313198_94333644	94313212	T T	TCATATAT others(22): Show TCATATATATAATATATATTATATAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	322	0.0031	29	c.52 others(40): Show c.5252_*5253insTATATTATATAATATATATTATATATATG	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4985		chr9	TogoVar
NUTM2F_chr9_94313198_94333644	94313515	T T	TATATAAT others(22): Show TATATAATAAAATATATATTATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0081 a0006c0006t0001g0081	1	322	0.0031	29	c.49 others(40): Show c.4949_*4950insTATAATATATAATATATATTTTATTATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4682		chr9	TogoVar
NXNL1_chr19_17450425_17465926	17450797	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	408	0.0025	29	c.48 others(40): Show c.4849_*4850insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		4627		chr19	TogoVar

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