Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUDT13_chr10_73105455_73136823	73125651	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02922.hp1 others(2): Show HG02280.hp2 HG02486.hp1 HG02922.hp1 HG03453.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0035 a0002c0002t0003g0158 a0002c0002t0003g0161 others(1): Show a0002c0002t0003g0035 a0002c0002t0003g0158 a0002c0002t0003g0161 a0002c0002t0003g0167	5	324	0.0154	28	c.703 others(43): Show c.703+168_703+169insTATATATATATATATATATATATATATA	NUDT13	ENSG00000166321.14	transcript	ENST00000357321.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NUDT17_chr1_145840630_145853954	145842793	T T	TGATAGAT others(21): Show TGATAGATAGATAGATAGATAGATAGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02071.hp1 HG02083.hp2 others(2): Show HG02015.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0004 a0001c0001t0002g0004 a0001c0002t0001g0004 others(1): Show a0001c0001t0001g0004 a0001c0001t0002g0004 a0001c0002t0001g0004 a0001c0002t0002g0004	5	406	0.0123	28	c.-28 others(39): Show c.-2848_-2847insGATAGATAGATAGATAGATAGATAGATA	NUDT17	ENSG00000186364.12	transcript	ENST00000334513.6	protein_coding		2836		chr1	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	28	c.88 others(37): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		458		chr8	TogoVar
NUDT3_chr6_34274679_34397669	34351198	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01934.hp2 HG02273.hp2 others(1): Show HG01517.hp1 HG01934.hp2 HG02273.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 a0001c0001t0052	a0001c0001t0002g0178 a0001c0001t0003g0228 a0001c0001t0042g0004 others(1): Show a0001c0001t0002g0178 a0001c0001t0003g0228 a0001c0001t0042g0004 a0001c0001t0052g0188	4	270	0.0148	28	c.100 others(45): Show c.100-9254_100-9227dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34366473	A A	AAGGGAGG others(21): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0123 a0001c0001t0007g0123	1	270	0.0037	28	c.100 others(47): Show c.100-24529_100-24502dupCCCTCCCTCCCTCCCTCCCTCCCTCC CT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93374689	C C	CTATTTAT others(21): Show CTATTTATTTATTTATTTATTTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0213 a0001c0001t0213	a0001c0001t0213g0223 a0001c0001t0213g0223	1	414	0.0024	28	c.-36 others(39): Show c.-3634_-3633insTATTTATTTATTTATTTATTTATTTATT	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding		3235		chr12	TogoVar
NUDT6_chr4_122887577_122927597	122899044	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03834.hp1 HG01071.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0040 a0002c0001t0001g0040	2	368	0.0054	28	c.499 others(45): Show c.499-1367_499-1366insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NUDT6	ENSG00000170917.14	transcript	ENST00000304430.10	protein_coding	3/4			chr4	TogoVar
NUF2_chr1_163316954_163360759	163359785	T T	TATATATA others(21): Show TATATATATATACACACACATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG04199.hp2 HG04204.hp1 others(9): Show HG02074.hp2 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18947.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18995.hp1 NA19075.hp1 NA19084.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0052 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0005g0071	12	400	0.0300	28	c.43 others(39): Show c.4316_*4317insATATATATATACACACACATATATATAC	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		4027		chr1	TogoVar
NUF2_chr1_163316954_163360759	163359848	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02886.hp2 HG02015.hp1 HG02886.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0202 a0003c0005t0001g0165 a0001c0002t0001g0202 a0003c0005t0001g0165	2	400	0.0050	28	c.43 others(39): Show c.4379_*4380insTATATATATATATATATATATATATATA	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		4090		chr1	TogoVar
NUFIP2_chr17_29250839_29299148	29276029	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02717.hp2 HG03654.hp1 others(3): Show HG02083.hp2 HG02717.hp2 HG03654.hp1 NA18612.hp2 NA18973.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0015 a0001c0003t0005 a0001c0001t0005 a0001c0001t0015 a0001c0003t0005	a0001c0001t0005g0276 a0001c0001t0005g0280 a0001c0001t0005g0282 others(2): Show a0001c0001t0005g0276 a0001c0001t0005g0280 a0001c0001t0005g0282 a0001c0001t0015g0027 a0001c0003t0005g0298	6	356	0.0169	28	c.200 others(47): Show c.2003-8500_2003-8499insATATATATATATATATATATATATAT AT	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUMA1_chr11_71997864_72085542	72049559	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00621.hp1 others(13): Show HG00140.hp1 HG00609.hp2 HG00621.hp1 HG01433.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG03239.hp2 HG04184.hp1 HG04228.hp1 NA18950.hp1 NA18968.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0013 a0001c0001 a0001c0008 a0001c0013	a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 a0001c0001t0001 a0001c0008t0001 a0001c0013t0001	a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0127 others(13): Show a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0008t0001g0131 a0001c0008t0001g0214 a0001c0013t0001g0237	16	244	0.0656	28	c.-32 others(47): Show c.-32-13585_-32-13584insTATATATATATATATATATATATATA TA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMA1_chr11_71997864_72085542	72049560	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp1 HG03139.hp2 HG02809.hp1 HG02886.hp1 HG03139.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031	3	244	0.0123	28	c.-32 others(47): Show c.-32-13586_-32-13585insATATATATATATATATATATATATAT AT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73350078	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	322	0.0031	28	c.126 others(45): Show c.126+5520_126+5547dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01358.hp1 HG02004.hp1 others(7): Show HG01106.hp1 HG01358.hp1 HG02004.hp1 HG02698.hp1 HG02809.hp2 NA18954.hp1 NA18967.hp2 NA18977.hp2 NA18989.hp2 NA18998.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0011 a0002c0002t0012 others(1): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0012 a0003c0003t0006	a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0235 others(7): Show a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0235 a0002c0002t0002g0239 a0002c0002t0002g0244 a0002c0002t0002g0248 a0002c0002t0002g0257 a0002c0002t0011g0249 a0002c0002t0012g0233 a0003c0003t0006g0129	10	276	0.0362	28	c.185 others(47): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT AT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19004.hp1 NA19091.hp1 NA18994.hp2 NA19004.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0119	3	300	0.0100	28	c.393 others(45): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(21): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	338	0.0030	28	c.38 others(39): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02293.hp2 HG02965.hp1 others(2): Show HG00558.hp2 HG02293.hp2 HG02965.hp1 HG03130.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0016 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0002t0001g0260	5	296	0.0169	28	c.196 others(45): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP188_chr9_128942699_129012096	129004945	C C	CAGGGGAG others(21): Show CAGGGGAGCATGAGGGAAGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01346.hp2 HG01928.hp1 others(2): Show HG01255.hp1 HG01346.hp2 HG01928.hp1 HG02300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0001 a0001c0025t0001 a0001c0002t0001 a0001c0025t0001	a0001c0002t0001g0193 a0001c0002t0001g0215 a0001c0002t0001g0224 others(2): Show a0001c0002t0001g0193 a0001c0002t0001g0215 a0001c0002t0001g0224 a0001c0002t0001g0231 a0001c0025t0001g0197	5	296	0.0169	28	c.443 others(45): Show c.4435-143_4435-116dupGGGAGCATGAGGGAAGGAGGGAGAGAAG	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	38/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135570654	T T	TATTATAT others(21): Show TATTATATTAATATAATTAATATATATTA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03834.hp2 HG03654.hp1 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0193 a0001c0002t0001g0194	2	352	0.0057	28	c.29- others(41): Show c.29-430_29-403dupATATATTAATTATATTAATATAATTAAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135629469	A A	ATCTCTCT others(21): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0345 a0001c0003t0001g0345	1	352	0.0028	28	c.493 others(45): Show c.4933-861_4933-834dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	34/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135641681	A A	AGGATCAC others(21): Show AGGATCACCTGAGCCCAGGAGGTTGAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00733.hp1 others(14): Show HG00099.hp2 HG00323.hp2 HG00733.hp1 HG01074.hp1 HG01123.hp1 HG01243.hp2 HG01346.hp2 HG01496.hp2 HG02258.hp1 HG02723.hp2 HG02738.hp2 HG02897.hp2 HG03209.hp1 HG03654.hp2 HG04204.hp1 HG06807.hp1 NA20752.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0015 a0013c0036	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0011t0001 a0001c0015t0004 a0013c0036t0001	a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0129 others(14): Show a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0237 a0001c0002t0001g0347 a0001c0002t0001g0348 a0001c0003t0001g0125 a0001c0011t0001g0126 a0001c0011t0001g0132 a0001c0015t0004g0148 a0001c0015t0004g0149 a0013c0036t0001g0123	17	352	0.0483	28	c.539 others(47): Show c.5393-1482_5393-1455dupGGATCACCTGAGCCCAGGAGGTTGAG GT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	38/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210L_chr1_153987690_154160073	154125622	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02300.hp2 HG03688.hp1 others(2): Show HG00544.hp1 HG02300.hp2 HG03688.hp1 NA19082.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0063 a0001c0001t0001g0266	5	290	0.0172	28	c.132 others(45): Show c.1326+673_1326+700dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP214_chr9_131120586_131239663	131130137	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0196 a0001c0004t0001g0196	1	234	0.0043	28	c.593 others(43): Show c.593-616_593-615insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131193629	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	234	0.0043	28	c.365 others(47): Show c.3659+1343_3659+1370dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	27/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(21): Show ATTTATTTATTTATTTATTATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0138 a0001c0004t0001g0138	1	234	0.0043	28	c.590 others(45): Show c.5902+800_5902+801insATTTATTTATTTATTATTTTTTTTTTTT	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(21): Show ATTTATTTATTTATTTATTTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02083.hp1 HG00423.hp1 HG02083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0083 a0002c0002t0001g0183 a0001c0001t0001g0083 a0002c0002t0001g0183	2	234	0.0086	28	c.590 others(45): Show c.5902+800_5902+801insATTTATTTATTTATTTATTTTTTTTTTT	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(21): Show ATTTATTTATTTATTTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18952.hp1 NA20300.hp1 HG01074.hp2 NA18952.hp1 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0011 a0002c0002 a0002c0003 a0003c0011	a0002c0002t0001 a0002c0003t0001 a0003c0011t0001 a0002c0002t0001 a0002c0003t0001 a0003c0011t0001	a0002c0002t0001g0118 a0002c0003t0001g0042 a0003c0011t0001g0186 a0002c0002t0001g0118 a0002c0003t0001g0042 a0003c0011t0001g0186	3	234	0.0128	28	c.590 others(45): Show c.5902+800_5902+801insATTTATTTATTTATTTTTTTTTTTTTTT	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(21): Show ATTTATTTATTTATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01891.hp1 HG02922.hp2 others(2): Show HG00609.hp1 HG01891.hp1 HG02922.hp2 HG03492.hp2 NA18522.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0009 a0005c0008 a0001c0001 a0004c0009 a0005c0008	a0001c0001t0001 a0004c0009t0001 a0005c0008t0001 a0001c0001t0001 a0004c0009t0001 a0005c0008t0001	a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0090 a0004c0009t0001g0045 a0005c0008t0001g0109	5	234	0.0214	28	c.590 others(45): Show c.5902+800_5902+801insATTTATTTATTTTTTTTTTTTTTTTTTT	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(21): Show ATTTATTTATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG01109.hp2 HG02109.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0053 a0005c0008t0001g0022 a0001c0001t0001g0053 a0005c0008t0001g0022	2	234	0.0086	28	c.590 others(45): Show c.5902+800_5902+801insATTTATTTTTTTTTTTTTTTTTTTTTTT	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(21): Show ATTTATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 HG02258.hp2 others(1): Show HG00733.hp2 HG01074.hp1 HG02258.hp2 NA18953.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0033 a0002c0002t0001g0152	4	234	0.0171	28	c.590 others(45): Show c.5902+800_5902+801insATTTTTTTTTTTTTTTTTTTTTTTTTTT	NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP35_chr2_183119443_183166680	183126984	G G	GTGCTCAA others(21): Show GTGCTCAATACACTGTATACAAGTGTATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03017.hp2 HG01109.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0063 a0001c0001t0001g0064	2	402	0.0050	28	c.41- others(43): Show c.41-1303_41-1302insTGCTCAATACACTGTATACAAGTGTATA	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	1/8			chr2	TogoVar
NUP62CL_chrX_107118427_107211433	107152051	T T	TATATATA others(21): Show TATATATATATATATATATATATATTCAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0236	1	280	0.0036	28	c.530 others(45): Show c.530+1093_530+1120dupCTGAATATATATATATATATATATATAT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	7/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107204677	C C	CATTTTAA others(21): Show CATTTTAAATAAATTATTTATTTAAATAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01993.hp2 others(4): Show HG01516.hp2 HG01517.hp2 HG01993.hp2 HG03492.hp1 HG03704.hp2 HG03831.hp2 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 others(4): Show a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0003g0156 a0002c0002t0003g0158 a0002c0002t0003g0159 a0002c0002t0003g0160	7	280	0.0250	28	c.-92 others(45): Show c.-92+1568_-92+1595dupTTATTTAAATAAATAATTTATTTAAAAT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107204893	A A	ATTATTTA others(21): Show ATTATTTAAATAAATTTTAAATAAATTAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01255.hp1 HG01081.hp1 HG01106.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0001 a0002c0002t0003g0140 a0002c0002t0001g0001 a0002c0002t0003g0140	3	280	0.0107	28	c.-92 others(45): Show c.-92+1352_-92+1379dupATAATTTATTTAAAATTTATTTAAATAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP93_chr16_56725129_56855286	56808131	A A	AAATATAT others(21): Show AAATATATAGTTATATAACTATATAAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA20752.hp1 HG02622.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0042 a0001c0003t0002 a0001c0003t0042	a0001c0003t0002g0285 a0001c0003t0042g0286 a0001c0003t0002g0285 a0001c0003t0042g0286	2	378	0.0053	28	c.489 others(45): Show c.489+2500_489+2501insATATATAGTTATATAACTATATAAAATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56827044	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20300.hp2 HG00642.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0007 a0001c0001t0016	a0001c0001t0007g0195 a0001c0001t0016g0192 a0001c0001t0007g0195 a0001c0001t0016g0192	2	378	0.0053	28	c.795 others(45): Show c.795-1908_795-1907insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18959.hp1 NA18998.hp2 others(1): Show HG02976.hp2 NA18959.hp1 NA18998.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0170 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0275	4	342	0.0117	28	c.274 others(47): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	342	0.0029	28	c.173 others(47): Show c.1730+1675_1730+1676insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28535503	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 NA18906.hp2 NA18984.hp1 others(1): Show HG02970.hp1 NA18906.hp2 NA18984.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0191 a0001c0001t0202 a0001c0001t0035 a0001c0001t0191 a0001c0001t0202	a0001c0001t0035g0033 a0001c0001t0191g0215 a0001c0001t0202g0225 a0001c0001t0035g0033 a0001c0001t0191g0215 a0001c0001t0202g0225	4	368	0.0109	28	c.21 others(39): Show c.2152_*2179dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2515		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535548	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0146	a0001c0001t0146g0108 a0001c0001t0146g0108	1	368	0.0027	28	c.21 others(39): Show c.2134_*2135insGGAAAGAAAGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2470		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535560	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCCTTCCTTCCTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0237 a0001c0001t0237	a0001c0001t0237g0251 a0001c0001t0237g0251	1	368	0.0027	28	c.21 others(39): Show c.2122_*2123insGGAAGGAAGGAAGGAAGGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2458		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535567	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp2 HG02074.hp1 HG02027.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0032 a0001c0001t0034g0032	2	368	0.0054	28	c.21 others(39): Show c.2115_*2116insAAAGAAAGGAAGGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2451		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535567	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0098 a0001c0001t0115g0098	1	368	0.0027	28	c.21 others(39): Show c.2115_*2116insAAAGAAAGAAAGGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2451		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535567	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTCTTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0068 a0001c0001t0070g0068	1	368	0.0027	28	c.21 others(39): Show c.2115_*2116insAAAGAAAAGAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2451		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0177 a0001c0001t0177	a0001c0001t0177g0205 a0001c0001t0177g0205	1	368	0.0027	28	c.21 others(39): Show c.2111_*2112insAAAGGAAGGAAGGAAGGAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0160 a0001c0001t0160	a0001c0001t0160g0190 a0001c0001t0160g0190	1	368	0.0027	28	c.21 others(39): Show c.2111_*2112insAAAGAAAGGAAGGAAGGAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG01192.hp2 HG00423.hp2 HG00558.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0142 a0001c0001t0235 a0001c0001t0141 a0001c0001t0142 a0001c0001t0235	a0001c0001t0141g0176 a0001c0001t0142g0177 a0001c0001t0235g0249 a0001c0001t0141g0176 a0001c0001t0142g0177 a0001c0001t0235g0249	3	368	0.0082	28	c.21 others(39): Show c.2111_*2112insAAAGAAAGAAAGGAAGGAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 NA18999.hp2 NA19011.hp2 HG00609.hp2 NA18999.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0231 a0001c0001t0232 a0001c0001t0127 a0001c0001t0231 a0001c0001t0232	a0001c0001t0127g0168 a0001c0001t0231g0245 a0001c0001t0232g0246 a0001c0001t0127g0168 a0001c0001t0231g0245 a0001c0001t0232g0246	3	368	0.0082	28	c.21 others(39): Show c.2111_*2112insAAAGAAAGAAAGAAAGGAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(21): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0149 a0001c0001t0102g0149	1	368	0.0027	28	c.21 others(39): Show c.2111_*2112insAAAGAAAGAAAGAAAGAAAGAAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0152 a0001c0001t0152	a0001c0001t0152g0182 a0001c0001t0152g0182	1	368	0.0027	28	c.21 others(39): Show c.2111_*2112insAAAGAAAGGAAGGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar

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