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
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAGG others(28): Show AAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02280.hp2 NA18975.hp1 HG00609.hp2 HG02280.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0029 a0001c0002t0010 a0001c0004t0007 a0001c0001t0029 a0001c0002t0010 a0001c0004t0007	a0001c0001t0029g0018 a0001c0002t0010g0106 a0001c0004t0007g0090 a0001c0001t0029g0018 a0001c0002t0010g0106 a0001c0004t0007g0090	3	116	0.0259	35	c.336 others(56): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCCTTCTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAGGAAAG others(28): Show AAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0043 a0001c0001t0052g0043	1	116	0.0086	35	c.336 others(56): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0077 a0001c0002t0005g0077	1	116	0.0086	35	c.833 others(54): Show c.833-60032_833-60031insATATATATATATATATATATTTTTTT TTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	116	0.0086	35	c.833 others(54): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATATATT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NSD1_chr5_177128773_177305213	177159030	G G	GATATATA others(28): Show GATATATATATATATATATATATATATATGAATGAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0123 a0001c0003t0007g0123	1	298	0.0034	35	c.927 others(54): Show c.927+23018_927+23019insATATATATATGAATGATATATATATA TATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177159030	G G	GATATATA others(28): Show GATATATATATATATATATATATATATGAATGATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0127 a0001c0003t0007g0127	1	298	0.0034	35	c.927 others(54): Show c.927+23018_927+23019insATATATATGAATGATATATATATATA TATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177199579	A A	ATTTTCTT others(28): Show ATTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02647.hp2 others(4): Show HG01515.hp2 HG01517.hp1 HG02647.hp2 HG02896.hp1 HG03225.hp2 HG03516.hp2 NA18906.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0001c0024 a0007c0010 a0001c0005 a0001c0024 a0007c0010	a0001c0005t0002 a0001c0005t0005 a0001c0024t0002 others(1): Show a0001c0005t0002 a0001c0005t0005 a0001c0024t0002 a0007c0010t0002	a0001c0005t0002g0007 a0001c0005t0005g0008 a0001c0005t0005g0016 others(4): Show a0001c0005t0002g0007 a0001c0005t0005g0008 a0001c0005t0005g0016 a0001c0005t0005g0018 a0001c0024t0002g0009 a0007c0010t0002g0010 a0007c0010t0002g0012	7	298	0.0235	35	c.106 others(54): Show c.1064-4507_1064-4506insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03834.hp2 HG02056.hp1 HG03834.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0003 a0004c0004t0004 a0003c0003t0003 a0004c0004t0004	a0003c0003t0003g0202 a0004c0004t0004g0336 a0003c0003t0003g0202 a0004c0004t0004g0336	2	388	0.0052	35	c.754 others(50): Show c.754-454_754-453insAAAAAAAAAAAAATATATATATATATATAT ATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	346	0.0029	35	c.658 others(52): Show c.658-4615_658-4614insATATATATATATATATATATATATATAT ATATTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	346	0.0029	35	c.658 others(52): Show c.658-4615_658-4614insATATATATATATATATATATATATATAT ATATATT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN7_chr4_40744955_40816184	40762798	G G	GATTGTGA others(28): Show GATTGTGAACTGCACATGGTGAGGGATCTAGGTTGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0044 a0003c0003t0003g0044	1	392	0.0026	35	c.488 others(52): Show c.488+1500_488+1534dupTGTGAACTGCACATGGTGAGGGATCTAG GTTGCAT	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39663282	C C	CCCATATT others(28): Show CCCATATTCTTCCTCTTCACTTAGACTTACCCTCAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	326	0.0031	35	c.551 others(45): Show c.551_556+29dupATGAGGGTAAGTCTAAGTGAAGAGGAAGAATATGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	4/5			chr1	TogoVar
NT5DC3_chr12_103767310_103846234	103838035	G G	GCCTCAGA others(28): Show GCCTCAGAATCATGGCGGGAGGTGAAAAGCACTTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0017	1	386	0.0026	35	c.208 others(52): Show c.208+2879_208+2913dupAGAAGTGCTTTTCACCTCCCGCCATGAT TCTGAGG	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
NT5DC4_chr2_112716020_112744095	112720012	C C	CCTTCCTT others(28): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	364	0.0028	35	c.-10 others(46): Show c.-1068_-1067insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT T	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1007		chr2	TogoVar
NTM_chr11_131365615_132341822	131730721	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19043.hp2 HG01243.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0004g0005 a0001c0001t0001g0023 a0001c0001t0004g0005	2	86	0.0233	35	c.83- others(54): Show c.83-180841_83-180840insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131789494	A A	AAGAAGAA others(28): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	86	0.0116	35	c.83- others(54): Show c.83-122069_83-122068insGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGA	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(28): Show CTCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG02723.hp1 others(4): Show HG02258.hp1 HG02622.hp2 HG02723.hp1 HG02965.hp1 HG02976.hp2 HG03579.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0021 a0001c0002t0045	a0001c0001t0001g0113 a0001c0001t0001g0187 a0001c0001t0002g0053 others(4): Show a0001c0001t0001g0113 a0001c0001t0001g0187 a0001c0001t0002g0053 a0001c0001t0004g0054 a0001c0001t0019g0047 a0001c0001t0021g0010 a0001c0002t0045g0073	7	258	0.0271	35	c.101 others(56): Show c.1018+14874_1018+14875insTCACACACACACACACACACACAC ACACACACACA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCTCACA others(28): Show CTCTCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0087 a0001c0003t0007g0087	1	258	0.0039	35	c.101 others(56): Show c.1018+14874_1018+14875insTCTCACACACACACACACACACAC ACACACACACA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0013 a0001c0001t0039g0013	1	258	0.0039	35	c.101 others(56): Show c.1019-48646_1019-48645insAAAAAAATATATATATATATATAT ATATATATATA	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN5_chr19_48656407_48678017	48669495	C C	CACCACCA others(28): Show CACCACCACCATCACCATCACCACCATCATCACCAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	412	0.0024	35	c.631 others(50): Show c.631+860_631+861insATGGTGATGATGGTGGTGATGGTGATGGTG GTGGT	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NTRK2_chr9_84664729_85032054	84797543	A A	ATTATATA others(28): Show ATTATATATATTATATATACTATATATACTATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0149 a0001c0001t0009g0149	1	170	0.0059	35	c.139 others(56): Show c.1396+45459_1396+45460insTATATATATTATATATACTATATA TACTATATACT	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTSR1_chr20_62703836_62767771	62767605	G G	GAAGAAAG others(28): Show GAAGAAAGAAAGAAAGAGAGAGAGAAAGAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	316	0.0032	35	c.73 others(46): Show c.7338_*7339insAAGAAAGAAAGAAAGAGAGAGAGAAAGAAGAAAG A	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4835		chr20	TogoVar
NTSR2_chr2_11653178_11675195	11657775	G G	GGACTGAG others(28): Show GGACTGAGGCCTGCTGTCAAATGGGCAGAGCCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG03098.hp2 others(2): Show HG01109.hp1 HG02257.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0002 a0001c0006t0002 a0001c0004t0002 a0001c0006t0002	a0001c0004t0002g0035 a0001c0004t0002g0064 a0001c0004t0002g0065 others(1): Show a0001c0004t0002g0035 a0001c0004t0002g0064 a0001c0004t0002g0065 a0001c0006t0002g0145	5	460	0.0109	35	c.70 others(44): Show c.703_*704insGGCAGGCTCTGCCCATTTGACAGCAGGCCTCAGTC	NTSR2	ENSG00000169006.7	transcript	ENST00000306928.6	protein_coding		402		chr2	TogoVar
NUBP1_chr16_10738842_10774351	10762839	A A	AGAGCCTG others(28): Show AGAGCCTGGAGGCGGGGAGGGCGGAGGCCACGTGGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	424	0.0024	35	c.820 others(51): Show c.820+987_820+1021dupGGAGGCGGGGAGGGCGGAGGCCACGTGGG GAGCCT	NUBP1	ENSG00000103274.11	transcript	ENST00000283027.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUBP1_chr16_10738842_10774351	10770317	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0231 a0001c0005t0001g0231	1	424	0.0024	35	c.12 others(46): Show c.1212_*1213insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	NUBP1	ENSG00000103274.11	transcript	ENST00000283027.10	protein_coding		967		chr16	TogoVar
NUDT14_chr14_105167939_105186312	105181238	A A	ACACGGGC others(28): Show ACACGGGCGACGCCCCTCGTGCGCCCTGGCGGGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	398	0.0025	35	c.-30 others(42): Show c.-30_-29insCGGCCCGCCAGGGCGCACGAGGGGCGTCGCCCGTG	NUDT14	ENSG00000183828.15	transcript	ENST00000392568.7	protein_coding	1/5	30		chr14	TogoVar
NUDT17_chr1_145840630_145853954	145842809	A A	AGATAGAT others(28): Show AGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02809.hp1 others(2): Show HG02055.hp1 HG02572.hp2 HG02809.hp1 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0003g0005 a0001c0001t0004g0005 a0001c0001t0001g0005 a0001c0001t0003g0005 a0001c0001t0004g0005	5	406	0.0123	35	c.-28 others(46): Show c.-2832_-2831insGATAGATAGATAGATAGATAGATAGATAGATAGA T	NUDT17	ENSG00000186364.12	transcript	ENST00000334513.6	protein_coding		2820		chr1	TogoVar
NUDT18_chr8_22101878_22114419	22106419	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	35	c.88 others(44): Show c.880_*881insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding		458		chr8	TogoVar
NUDT3_chr6_34274679_34397669	34301154	A A	ACTTCTGC others(28): Show ACTTCTGCTATTATTAAAAATGCTGCAAAAAACTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01074.hp2 others(11): Show HG00280.hp1 HG01069.hp2 HG01074.hp2 HG01261.hp2 HG02148.hp1 HG03017.hp2 HG03490.hp1 HG03927.hp1 NA18612.hp1 NA18942.hp2 NA18948.hp1 NA18957.hp2 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 others(6): Show a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043	a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 others(11): Show a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0017g0267 a0001c0001t0017g0268 a0001c0001t0018g0119 a0001c0001t0018g0128 a0001c0001t0034g0002 a0001c0001t0038g0129 a0001c0001t0039g0127 a0001c0001t0040g0126 a0001c0001t0041g0269 a0001c0001t0043g0120	14	270	0.0519	35	c.211 others(52): Show c.211-5470_211-5469insAGAGTTTTTTGCAGCATTTTTAATAATA GCAGAAG	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93382674	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0200 a0001c0002t0200	a0001c0002t0200g0249 a0001c0002t0200g0249	1	414	0.0024	35	c.99+ others(50): Show c.99+4273_99+4274insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP133_chr1_229435259_229513341	229449873	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0135 a0003c0003t0004g0135	1	276	0.0036	35	c.318 others(52): Show c.3180+651_3180+652insAAAAATATATATATATATATATATATAT ATATATA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	23/25			chr1	TogoVar
NUP155_chr5_37283137_37376106	37294005	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0125 a0001c0001t0050g0125	1	300	0.0033	35	c.393 others(52): Show c.3930+323_3930+324insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	33/34			chr5	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0070 a0001c0001t0072g0070	1	368	0.0027	35	c.21 others(46): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAA A	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCCTTCCTTCCTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0157 a0001c0001t0114g0157	1	368	0.0027	35	c.21 others(46): Show c.2119_*2120insAAAGAAAGAAGGAAGGAAGGAAAGAAAGAAAGAA A	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2455		chr16	TogoVar
NWD1_chr19_16714847_16822953	16761358	T T	TTCTTTCT others(28): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp2 HG03098.hp2 others(4): Show HG00735.hp2 HG02886.hp2 HG03098.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp2 NA19240.hp1	a0004 a0006 a0010 a0004 a0006 a0010	a0004c0009 a0006c0014 a0010c0013 a0004c0009 a0006c0014 a0010c0013	a0004c0009t0008 a0004c0009t0013 a0004c0009t0036 others(2): Show a0004c0009t0008 a0004c0009t0013 a0004c0009t0036 a0006c0014t0009 a0010c0013t0008	a0004c0009t0008g0205 a0004c0009t0008g0286 a0004c0009t0013g0206 others(4): Show a0004c0009t0008g0205 a0004c0009t0008g0286 a0004c0009t0013g0206 a0004c0009t0036g0126 a0006c0014t0009g0014 a0006c0014t0009g0016 a0010c0013t0008g0194	7	300	0.0233	35	c.197 others(52): Show c.1974-611_1974-610insTTTCTTTCTTTCTTTCTTTCTTTCCTCT TTCTTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG03927.hp2 HG01934.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0015 a0001c0001t0001g0039	2	408	0.0049	35	c.25 others(46): Show c.2531_*2532insAAAAAAAAATATATATATATATATATATATATAT A	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXN_chr17_794310_984776	931943	A A	AGACCAGC others(28): Show AGACCAGCCTGGCCAAGACGGTGAAACCCCATCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG06807.hp1 HG02486.hp1 HG02630.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0069 a0001c0001t0001g0225 a0001c0001t0001g0226	3	242	0.0124	35	c.360 others(54): Show c.360+47341_360+47375dupAGAGATGGGGTTTCACCGTCTTGGCC AGGCTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949673	C C	CCCCCCGC others(28): Show CCCCCCGCCTCCTCCTCTCCCCGCGGCCTCCTCTCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	242	0.0041	35	c.360 others(54): Show c.360+29645_360+29646insAGAGAGGAGGCCGCGGGGAGAGGAGG AGGCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02735.hp1 HG01261.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0122 a0001c0002t0001g0080 a0001c0002t0001g0122	2	192	0.0104	35	c.161 others(56): Show c.1618+14477_1618+14478insTATATATATATATATATATATATA TATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7			chr2	TogoVar
NYNRIN_chr14_24394003_24424283	24406201	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	450	0.0022	35	c.199 others(52): Show c.199-1651_199-1617dupAAATAAAATAAAATAAAATAAAATAAAA TAAAATA	NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
OGFOD1_chr16_56446554_56484104	56480366	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	430	0.0023	35	c.41 others(46): Show c.4161_*4162insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1263		chr16	TogoVar
OLFM1_chr9_135082668_135126180	135124502	A A	AGGAAGGA others(28): Show AGGAAGGAAGGAAGGAAGGGGAAGGGGAAGGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	360	0.0028	35	c.43 others(46): Show c.4324_*4325insGGAAGGAAGGAAGGAAGGGGAAGGGGAAGGGGAA G	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3323		chr9	TogoVar
OLFM3_chr1_101797560_102001926	101991016	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	306	0.0033	35	c.69+ others(50): Show c.69+5731_69+5732insATATATATATATATATATATATATATATAT TTTTT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFML2A_chr9_124772133_124819882	124787522	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0010 a0004c0004t0010	a0004c0004t0010g0357 a0004c0004t0010g0357	1	380	0.0026	35	c.354 others(50): Show c.354+298_354+332dupTATTTTATTTTATTTTATTTTATTTTATTT TATTT	OLFML2A	ENSG00000185585.20	transcript	ENST00000373580.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
OMA1_chr1_58475719_58551726	58518202	G G	GGGGAGAG others(28): Show GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01993.hp1 HG00738.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0002 a0001c0012t0002 a0001c0002t0002 a0001c0012t0002	a0001c0002t0002g0113 a0001c0012t0002g0077 a0001c0002t0002g0113 a0001c0012t0002g0077	2	384	0.0052	35	c.121 others(54): Show c.1215+9058_1215+9059insGTCTCCCCTCTCCCCTCTCCCCTCTC CCCTCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518216	G G	GGGGAGAG others(28): Show GGGGAGAGGGGAGACGGGAGAGGGGAGAGGGGAGAC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18959.hp1 NA19006.hp1 others(3): Show NA18939.hp2 NA18959.hp1 NA19006.hp1 NA19007.hp2 NA19010.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0274 others(3): Show a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0318 a0001c0001t0001g0319	6	384	0.0156	35	c.121 others(54): Show c.1215+9044_1215+9045insGTCTCCCCTCTCCCCTCTCCCGTCTC CCCTCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518287	A A	AGGGAGGG others(28): Show AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0346 a0002c0003t0001g0346	1	384	0.0026	35	c.121 others(54): Show c.1215+8973_1215+8974insCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518299	A A	AGAAGGGA others(28): Show AGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG03490.hp1 others(3): Show HG02818.hp2 HG02965.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03834.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0004 a0003c0004t0001g0049 a0003c0004t0001g0050 others(2): Show a0003c0004t0001g0004 a0003c0004t0001g0049 a0003c0004t0001g0050 a0003c0004t0001g0075 a0003c0004t0001g0076	6	384	0.0156	35	c.121 others(54): Show c.1215+8961_1215+8962insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OPA1_chr3_193588208_193702811	193596306	T T	TTTTCCTT others(28): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19001.hp2 NA19074.hp1 HG01106.hp1 NA19001.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0003g0334 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0003g0334	3	388	0.0077	35	c.32+ others(50): Show c.32+2930_32+2931insCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTT	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
OPALIN_chr10_96338221_96364002	96361946	A A	ATACAATA others(28): Show ATACAATACAATACAATACAATACAATACAGTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	402	0.0025	35	c.-30 others(46): Show c.-3051_-3050insCTGTACTGTATTGTATTGTATTGTATTGTATTGT A	OPALIN	ENSG00000197430.11	transcript	ENST00000371172.8	protein_coding		2945		chr10	TogoVar

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Search Results (Total: 4618 hits)