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
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0115 a0001c0001t0059g0115	1	258	0.0039	38	c.101 others(59): Show c.1019-48646_1019-48645insAAAAAAAAAATATATATATATATA TATATATATATATA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTSR1_chr20_62703836_62767771	62719475	C C	CCCACCCT others(31): Show CCCACCCTCCCTCTCGGTACAATCGTCATGCGACCATCT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	316	0.0032	38	c.714 others(55): Show c.714+9574_714+9575insATCGTCATGCGACCATCTCCACCCTCCC TCTCGGTACA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62758046	T T	TGTCTCTG others(31): Show TGTCTCTGAGCCCACGTCTCTGTGCCTCAGGTGCAGTGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0128 a0001c0001t0050g0128	1	316	0.0032	38	c.917 others(53): Show c.917-206_917-169dupCGTCTCTGTGCCTCAGGTGCAGTGGGTCTC TGAGCCCA	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62758179	G G	GTGTGCCT others(31): Show GTGTGCCTCAGGTGCAGTGGGTCTCTGAGCCCACGCCTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0004 a0002c0010t0004	a0002c0010t0004g0254 a0002c0010t0004g0254	1	316	0.0032	38	c.917 others(51): Show c.917-52_917-15dupCCTCTGTGCCTCAGGTGCAGTGGGTCTCTGAG CCCACG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTS_chr12_85869295_85887992	85870121	T T	TACCTGAG others(31): Show TACCTGAGCATTACACATAATGGGTGGTGATTTTGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	420	0.0024	38	c.-42 others(49): Show c.-4283_-4282insACCTGAGCATTACACATAATGGGTGGTGATTTTG TGAG	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding		4173		chr12	TogoVar
NUBPL_chr14_31556404_31866224	31739180	A A	ATATATAT others(31): Show ATATATATATATATATTATATTCTATATATATATTATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02622.hp1 others(4): Show HG01109.hp2 HG02055.hp2 HG02622.hp1 HG02717.hp2 HG02922.hp1 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0128 a0001c0001t0002g0143 a0001c0001t0002g0144 others(4): Show a0001c0001t0002g0128 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0013g0268	7	268	0.0261	38	c.514 others(57): Show c.514-48566_514-48529dupTATATTATATATATATATATTATATT CTATATATATAT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(31): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	268	0.0037	38	c.514 others(57): Show c.514-27635_514-27634insTGTGTGTGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0261 a0001c0001t0014g0261	1	268	0.0037	38	c.514 others(57): Show c.514-27635_514-27634insTGTGTGTGTGAGAGAGAGAGAGAGAG AGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02055.hp2 NA18982.hp1 HG01993.hp1 HG02055.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0001 a0001c0001t0008 a0001c0001t0013	a0001c0001t0001g0105 a0001c0001t0008g0202 a0001c0001t0013g0268 a0001c0001t0001g0105 a0001c0001t0008g0202 a0001c0001t0013g0268	3	268	0.0112	38	c.514 others(57): Show c.514-27635_514-27634insTGTGTGTGTGTGTGAGAGAGAGAGAG AGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01257.hp2 HG02165.hp1 others(2): Show HG01192.hp2 HG01257.hp2 HG02165.hp1 HG03491.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0024 a0001c0001t0005 a0001c0001t0011 a0001c0001t0024	a0001c0001t0005g0038 a0001c0001t0005g0096 a0001c0001t0005g0097 others(2): Show a0001c0001t0005g0038 a0001c0001t0005g0096 a0001c0001t0005g0097 a0001c0001t0011g0070 a0001c0001t0024g0072	5	268	0.0187	38	c.514 others(57): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGAGAGAGAGAG AGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03098.hp1 HG06807.hp1 others(3): Show HG02056.hp1 HG03098.hp1 HG06807.hp1 NA18962.hp1 NA18986.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0002g0200 a0001c0001t0002g0217 a0001c0001t0002g0258	6	268	0.0224	38	c.514 others(57): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02602.hp2 NA18951.hp2 others(1): Show HG01993.hp2 HG02602.hp2 NA18951.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0088 a0001c0001t0002g0218	4	268	0.0149	38	c.514 others(57): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA20752.hp1 HG01167.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0027 a0001c0001t0001g0029	2	268	0.0075	38	c.514 others(57): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGTGTGAGAG AGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288882	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	360	0.0028	38	c.-1+ others(53): Show c.-1+5971_-1+6008dupCACACACACACACACACACACACACACACA CACACACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109311556	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0171 a0005c0005t0007g0171	1	360	0.0028	38	c.273 others(57): Show c.273+10752_273+10753insATATATATATATATATATATATATAT ATATATATATAT	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02135.hp2 NA18950.hp1 HG01167.hp2 HG02135.hp2 NA18950.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0169 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0169 a0003c0003t0003g0176 a0003c0003t0003g0177	3	360	0.0083	38	c.273 others(57): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATATATA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTGTAT others(31): Show GTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG06807.hp1 HG04204.hp1 HG06807.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0004 a0004c0004t0001 a0003c0003t0004 a0004c0004t0001	a0003c0003t0004g0337 a0004c0004t0001g0140 a0003c0003t0004g0337 a0004c0004t0001g0140	2	360	0.0056	38	c.273 others(57): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATACACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDT12_chr5_103543855_103567789	103562821	G G	GAGGGGGG others(31): Show GAGGGGGGCGGGAGGGGGGCCGGGGGCGGGAGGGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00738.hp1 others(15): Show HG00323.hp2 HG00735.hp1 HG00738.hp1 HG01106.hp1 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG02572.hp1 HG02622.hp2 HG02738.hp1 HG03239.hp2 HG03486.hp2 HG04199.hp1 NA18906.hp1 NA19240.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0007 a0001c0003t0005 a0001c0003t0007	a0001c0003t0005g0005 a0001c0003t0005g0017 a0001c0003t0005g0144 others(1): Show a0001c0003t0005g0005 a0001c0003t0005g0017 a0001c0003t0005g0144 a0001c0003t0007g0035	18	438	0.0411	38	c.-12 others(47): Show c.-126_-125insGGCCCCCCTCCCGCCCCCGGCCCCCCTCCCGCCCCC CT	NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding		33		chr5	TogoVar
NUDT4_chr12_93372925_93413146	93406275	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 NA18966.hp2 HG00423.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0207 a0001c0001t0099 a0001c0001t0207	a0001c0001t0099g0011 a0001c0001t0207g0238 a0001c0001t0099g0011 a0001c0001t0207g0238	2	414	0.0048	38	c.69 others(49): Show c.6926_*6927insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	6927	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUF2_chr1_163316954_163360759	163359848	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0161 a0003c0005t0001g0161	1	400	0.0025	38	c.43 others(49): Show c.4379_*4380insTATATATATATATATATATATATATATATATATA TATA	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		4090		chr1	TogoVar
NUFIP2_chr17_29250839_29299148	29276042	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0224 a0001c0001t0023g0224	1	356	0.0028	38	c.200 others(57): Show c.2003-8513_2003-8512insGATATATATATATATATATATATATA TATATATATATA	NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3			chr17	TogoVar
NUMA1_chr11_71997864_72085542	72049559	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	244	0.0041	38	c.-32 others(57): Show c.-32-13585_-32-13584insTATATATATATATATATATATATATA TATATATATATA	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp2 HG01258.hp2 others(3): Show HG00099.hp1 HG01256.hp2 HG01258.hp2 HG02074.hp2 NA18747.hp1 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0002 a0002c0002t0010	a0002c0002t0002g0007 a0002c0002t0002g0220 a0002c0002t0002g0229 others(2): Show a0002c0002t0002g0007 a0002c0002t0002g0220 a0002c0002t0002g0229 a0002c0002t0002g0245 a0002c0002t0010g0225	6	276	0.0217	38	c.185 others(57): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT ATATATATATAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(31): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18959.hp1 NA18963.hp1 others(5): Show NA18945.hp2 NA18959.hp1 NA18963.hp1 NA18968.hp1 NA19003.hp1 NA19009.hp1 NA19081.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0197 a0001c0001t0002g0204 others(5): Show a0001c0001t0002g0064 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0331	8	338	0.0237	38	c.38 others(49): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP188_chr9_128942699_129012096	128984124	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	296	0.0034	38	c.196 others(55): Show c.1961+593_1961+594insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	19/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	342	0.0029	38	c.173 others(57): Show c.1730+1675_1730+1676insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3781332	A A	AGAATCCG others(31): Show AGAATCCGAGACGTGATTAGATAGACTTGAGCGATATAC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0283 a0013c0015t0001g0283	1	342	0.0029	38	c.76+ others(51): Show c.76+709_76+710insGTATATCGCTCAAGTCTATCTAATCACGTCTC GGATTC	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	2/32			chr11	TogoVar
NUPR2_chr7_56109681_56121417	56115414	T T	TACACATG others(31): Show TACACATGTATATATATACATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18982.hp1 HG03516.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	448	0.0045	38	c.7- others(51): Show c.7-518_*7-517insGTATATATATACATATATATGTATATATATAC ATGTGT	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115414	T T	TACATATG others(31): Show TACATATGTATATATATACATATATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01071.hp1 others(2): Show HG00733.hp2 HG01070.hp2 HG01071.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	5	448	0.0112	38	c.7- others(51): Show c.7-518_*7-517insGTATATATATACATATATATGTATATATATAC ATATGT	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115419	A A	ATGTATAT others(31): Show ATGTATATATATACATATATATGTATATATATACATGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00438.hp2 others(89): Show HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02145.hp1 HG02155.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18992.hp2 NA19003.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp2 NA19062.hp2 NA19065.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19082.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0074 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0008g0144	92	448	0.2054	38	c.7- others(51): Show c.7-523_*7-522insCACATGTATATATATACATATATATGTATATA TATACA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18940.hp1 NA18975.hp1 others(3): Show HG02738.hp2 NA18940.hp1 NA18975.hp1 NA18985.hp2 NA19043.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0117 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0117	6	448	0.0134	38	c.6+ others(51): Show c.6+389_*6+390insTATATATATATATATATATATATATATATATA TATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUTM2F_chr9_94313198_94333644	94313201	T T	TATATATT others(31): Show TATATATTATATTATAATATATATTATATAATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02015.hp2 HG02723.hp2 others(2): Show HG02004.hp2 HG02015.hp2 HG02723.hp2 NA18967.hp2 NA19064.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0010 a0002c0002 a0009c0010	a0002c0002t0001 a0009c0010t0001 a0002c0002t0001 a0009c0010t0001	a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0062 others(1): Show a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0062 a0009c0010t0001g0035	5	322	0.0155	38	c.52 others(49): Show c.5263_*5264insTATATATATTATATAATATATATTATAATATAAT ATAT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4996		chr9	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	38	c.25 others(49): Show c.2531_*2532insAAAAAAAAAAAAAAAATATATATATATATATATA TATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXN_chr17_794310_984776	841420	C C	CGCATCTC others(31): Show CGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	242	0.0041	38	c.361 others(57): Show c.361-15343_361-15342insTCCGTGGTCGGGAGGACCTGCTCGCG GGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841488	T T	TGACCACG others(31): Show TGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	242	0.0041	38	c.361 others(57): Show c.361-15411_361-15410insGGGGGGACCTGCTCGCCGGCGTGAGA TGCTCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(31): Show AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18952.hp1 NA18971.hp1 others(2): Show HG02273.hp2 NA18952.hp1 NA18971.hp1 NA18995.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0037 a0001c0001t0002g0204 a0001c0001t0002g0207 others(2): Show a0001c0001t0002g0037 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0003g0106 a0001c0001t0003g0153	5	242	0.0207	38	c.361 others(57): Show c.361-15514_361-15513insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948824	G G	GCAGCCTC others(31): Show GCAGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0173 a0001c0001t0026g0173	1	242	0.0041	38	c.360 others(57): Show c.360+30494_360+30495insGGGGGAGAGGAGGAGGCCGGGGGGAG AGGAGGAGGCTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948864	G G	GGCCTCCT others(31): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18983.hp1 NA19011.hp2 NA18971.hp1 NA18983.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0163 a0001c0001t0003g0153 a0001c0001t0004g0152 a0001c0001t0002g0163 a0001c0001t0003g0153 a0001c0001t0004g0152	3	242	0.0124	38	c.360 others(57): Show c.360+30454_360+30455insAGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(31): Show TCCCCCCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	242	0.0041	38	c.360 others(57): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949261	G G	GGCCTCCT others(31): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	242	0.0041	38	c.360 others(57): Show c.360+30057_360+30058insAGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949616	C C	CCCCCGCG others(31): Show CCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0123 a0001c0001t0006g0123	1	242	0.0041	38	c.360 others(57): Show c.360+29702_360+29703insAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949673	C C	CCCCGCGG others(31): Show CCCCGCGGCCTCCTCCTCTCCCCCCCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	242	0.0041	38	c.360 others(57): Show c.360+29645_360+29646insAGAGGAGGAGGCCGGGGGGGAGAGGA GGAGGCCGCGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	242	0.0041	38	c.-39 others(49): Show c.-3934_-3933insGTGTGTGTGTATATATATATATATATATATATAT ATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0220 a0001c0001t0013g0220	1	242	0.0041	38	c.-39 others(49): Show c.-3934_-3933insGTGTGTGTATATATATATATATATATATATATAT ATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG01169.hp1 others(2): Show HG00323.hp1 HG01081.hp2 HG01169.hp1 HG01978.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0002g0215 others(2): Show a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0002g0215 a0001c0001t0003g0205 a0001c0001t0006g0202	5	242	0.0207	38	c.-39 others(49): Show c.-3934_-3933insGTGTGTATATATATATATATATATATATATATAT ATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	242	0.0041	38	c.-39 others(49): Show c.-3934_-3933insGTGTATATATATATATATATATATATATATATAT ATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0022 a0001c0001t0014g0022	1	192	0.0052	38	c.161 others(57): Show c.1618+6507_1618+6508insATATATATATATATATATATATATAT ATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG01081.hp1 others(17): Show HG00280.hp1 HG00438.hp2 HG01081.hp1 HG01258.hp2 HG01361.hp1 HG01884.hp2 HG01978.hp2 HG02074.hp2 HG02109.hp2 HG02165.hp1 HG02630.hp2 HG02717.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp1 NA18975.hp1 NA18977.hp1 NA18988.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0032 a0001c0002t0001 a0001c0002t0008 a0001c0002t0023 a0001c0002t0024 a0001c0002t0035 a0001c0002t0037 a0001c0003t0003 a0001c0004t0002 a0001c0006t0001 a0001c0007t0012	a0001c0001t0001g0040 a0001c0001t0004g0008 a0001c0001t0004g0020 others(17): Show a0001c0001t0001g0040 a0001c0001t0004g0008 a0001c0001t0004g0020 a0001c0001t0004g0044 a0001c0001t0018g0116 a0001c0001t0032g0124 a0001c0002t0001g0062 a0001c0002t0008g0183 a0001c0002t0023g0189 a0001c0002t0024g0186 a0001c0002t0035g0085 a0001c0002t0037g0030 a0001c0003t0003g0007 a0001c0003t0003g0046 a0001c0003t0003g0079 a0001c0003t0003g0181 a0001c0004t0002g0143 a0001c0004t0002g0158 a0001c0006t0001g0119 a0001c0007t0012g0134	20	192	0.1042	38	c.161 others(59): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT ATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0013 a0001c0004t0001g0013	1	110	0.0091	38	c.243 others(59): Show c.2432+20356_2432+20357insTATATATATATATATATATATATA GAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03942.hp1 HG02257.hp2 HG03942.hp1	a0001 a0001	a0001c0007 a0001c0010 a0001c0007 a0001c0010	a0001c0007t0001 a0001c0010t0001 a0001c0007t0001 a0001c0010t0001	a0001c0007t0001g0025 a0001c0010t0001g0054 a0001c0007t0001g0025 a0001c0010t0001g0054	2	110	0.0182	38	c.243 others(59): Show c.2432+20356_2432+20357insTATATATATATATATATATATAGA GAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar

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