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
NLGN1_chr3_173392744_174299372	173747197	T T	TAATATAT others(25): Show TAATATATATATATCTTTAAGTATATATATTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0035 a0001c0005t0035	a0001c0005t0035g0016 a0001c0005t0035g0016	1	44	0.0227	32	c.554 others(51): Show c.554-60472_554-60471insATCTTTAAGTATATATATTTAAATAT ATATAT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN1_chr3_173392744_174299372	173878654	A A	ATATATAT others(25): Show ATATATATATACACATACATATATAAGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	44	0.0227	32	c.706 others(51): Show c.706+70854_706+70885dupGTATATATATACACATACATATATAA GTGTGT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN4X_chrX_5885042_6233867	6179099	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00673.hp1 others(18): Show HG00140.hp1 HG00423.hp1 HG00673.hp1 HG01070.hp2 HG01109.hp1 HG02074.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG04228.hp1 NA18956.hp1 NA18960.hp1 NA18965.hp1 NA19000.hp1 NA19055.hp1 NA19064.hp1 NA19079.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0008t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0048 others(18): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0109 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0047 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0085 a0001c0001t0002g0112 a0001c0001t0002g0128 a0001c0001t0004g0002 a0001c0002t0003g0063 a0001c0003t0002g0041 a0001c0003t0006g0038 a0001c0003t0006g0040 a0001c0003t0006g0042 a0001c0004t0001g0101 a0001c0008t0001g0032	21	128	0.1641	32	c.-30 others(53): Show c.-305-27329_-305-27328insCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	1/5			chrX	TogoVar
NLK_chr17_28037677_28201381	28172233	A A	ATTTAAAT others(25): Show ATTTAAATTCCTTTACATGAGGAATTTATTTAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00621.hp1 others(11): Show HG00558.hp1 HG00609.hp1 HG00621.hp1 HG02027.hp1 HG02040.hp1 HG02165.hp1 HG03710.hp2 HG03942.hp1 NA18951.hp2 NA18960.hp2 NA18979.hp2 NA18980.hp1 NA18993.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0026 a0001c0001t0002g0017 a0001c0001t0002g0038 others(11): Show a0001c0001t0001g0026 a0001c0001t0002g0017 a0001c0001t0002g0038 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0075 a0001c0001t0002g0104 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0094 a0001c0001t0005g0095	14	108	0.1296	32	c.104 others(49): Show c.1048-218_1048-187dupTTAAATTCCTTTACATGAGGAATTTATT TATT	NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01928.hp1 HG01934.hp2 others(3): Show HG01106.hp1 HG01928.hp1 HG01934.hp2 HG02109.hp2 HG02148.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0003 a0001c0001t0001 a0002c0006t0003	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0336 a0002c0006t0003g0184	6	394	0.0152	32	c.-11 others(51): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRC5_chr16_56984557_57088520	57020544	T T	TAGCTCAC others(25): Show TAGCTCACCTCCCCCCCAGTTTACCTGTCCCCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp1 HG02451.hp2 HG03453.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0004 a0001c0044t0019 a0001c0044t0004 a0001c0044t0019	a0001c0044t0004g0004 a0001c0044t0019g0050 a0001c0044t0004g0004 a0001c0044t0019g0050	2	424	0.0047	32	c.-12 others(47): Show c.-12-141_-12-110dupCAGTTTACCTGTCCCCCAGCTCACCTCCCC CC	NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	2/48		INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRC5_chr16_56984557_57088520	57030438	A A	AGATGGAT others(25): Show AGATGGATGGATGGGTGGATGAAAAGATGGATG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03688.hp2 NA18747.hp1 HG01978.hp2 HG03688.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0001 a0001c0012 a0002c0001	a0001c0012t0001 a0002c0001t0001 a0002c0001t0003 a0001c0012t0001 a0002c0001t0001 a0002c0001t0003	a0001c0012t0001g0199 a0002c0001t0001g0407 a0002c0001t0003g0215 a0001c0012t0001g0199 a0002c0001t0001g0407 a0002c0001t0003g0215	3	424	0.0071	32	c.241 others(49): Show c.2417+367_2417+368insGTGGATGAAAAGATGGATGGATGGATGG ATGG	NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	10/48		INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP12_chr19_53788741_53829314	53819619	G G	GTATATAT others(25): Show GTATATATATGCGTACATATGTATGTATACGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp1 HG03486.hp2 HG01109.hp1 HG02630.hp1 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0002 a0002c0006t0002 a0002c0005t0002 a0002c0006t0002	a0002c0005t0002g0160 a0002c0005t0002g0163 a0002c0006t0002g0216 a0002c0005t0002g0160 a0002c0005t0002g0163 a0002c0006t0002g0216	3	416	0.0072	32	c.289 others(49): Show c.289+4266_289+4267insTACGTATACATACATATGTACGCATATA TATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819626	C C	CATGCGTA others(25): Show CATGCGTATATATGTATGTATACGTATATACAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0354 a0001c0003t0001g0354	1	416	0.0024	32	c.289 others(49): Show c.289+4259_289+4260insATGTATATACGTATACATACATATATAC GCAT	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819626	C C	CATGCGTA others(25): Show CATGCGTATATATGTATGTATACGTATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0001 a0014c0025t0001	a0014c0025t0001g0231 a0014c0025t0001g0231	1	416	0.0024	32	c.289 others(49): Show c.289+4259_289+4260insATATATATACGTATACATACATATATAC GCAT	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP2_chr19_54961374_55006138	54975106	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0260 a0003c0006t0001g0260	1	429	0.0023	32	c.325 others(47): Show c.325+568_325+599dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02015.hp1 HG02523.hp2 others(1): Show HG01934.hp1 HG02015.hp1 HG02523.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0003 a0002c0019 a0001c0010 a0002c0003 a0002c0019	a0001c0010t0008 a0002c0003t0003 a0002c0019t0008 a0001c0010t0008 a0002c0003t0003 a0002c0019t0008	a0001c0010t0008g0181 a0001c0010t0008g0385 a0002c0003t0003g0240 others(1): Show a0001c0010t0008g0181 a0001c0010t0008g0385 a0002c0003t0003g0240 a0002c0019t0008g0032	4	429	0.0093	32	c.326 others(47): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998716	A A	ATATATAT others(25): Show ATATATATATATGTGTATATATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 NA19085.hp1 HG03239.hp2 NA19085.hp1	a0005 a0007 a0005 a0007	a0005c0006 a0007c0010 a0005c0006 a0007c0010	a0005c0006t0001 a0007c0010t0001 a0005c0006t0001 a0007c0010t0001	a0005c0006t0001g0144 a0007c0010t0001g0224 a0005c0006t0001g0144 a0007c0010t0001g0224	2	396	0.0051	32	c.-10 others(43): Show c.-1010_-1009insTATATATATATGTGTATATATATATATATGTG	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1009		chr19	TogoVar
NLRP5_chr19_55994726_56066810	56010742	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0293 a0001c0009t0001g0293	1	396	0.0025	32	c.508 others(49): Show c.508+1902_508+1903insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56025386	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0045 a0003c0045	a0003c0045t0001 a0003c0045t0001	a0003c0045t0001g0266 a0003c0045t0001g0266	1	396	0.0025	32	c.680 others(49): Show c.680-1508_680-1507insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56046410	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA20300.hp2 HG00733.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0086 a0002c0087 a0001c0086 a0002c0087	a0001c0086t0001 a0002c0087t0002 a0001c0086t0001 a0002c0087t0002	a0001c0086t0001g0018 a0002c0087t0002g0024 a0001c0086t0001g0018 a0002c0087t0002g0024	2	396	0.0051	32	c.295 others(51): Show c.2958-3995_2958-3994insGTGTGTGTGTGTGTGTGTTTGTGTGT GTGTGT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993481	C C	CCCTCTCC others(25): Show CCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0044 a0000c0004t0044	a0000c0004t0044g0217 a0000c0004t0044g0217	1	350	0.0029	32	c.55 others(43): Show c.5568_*5569insCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4853		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993563	C C	CCCCCTCC others(25): Show CCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0027 a0005c0019t0027	a0005c0019t0027g0251 a0005c0019t0027g0251	1	350	0.0029	32	c.56 others(43): Show c.5650_*5651insCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4935		chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	32	c.48 others(43): Show c.4818_*4819insAAAAAAAAAAAAATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(25): Show AAAAAAAAAAATTATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	413	0.0048	32	c.48 others(43): Show c.4818_*4819insAAAAAAAAAATTATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03654.hp1 HG02698.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	413	0.0048	32	c.48 others(43): Show c.4818_*4819insAAAAAAAAATATATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	32	c.48 others(43): Show c.4818_*4819insAAAAAAATATATATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME7_chr1_169127531_169372797	169350241	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0243 a0001c0002t0001g0243	1	302	0.0033	32	c.3+1 others(47): Show c.3+17466_3+17467insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME7_chr1_169127531_169372797	169350245	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18988.hp2 HG00438.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0002g0088 a0001c0001t0001g0028 a0001c0001t0002g0088	2	302	0.0066	32	c.3+1 others(47): Show c.3+17431_3+17462dupCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME8_chr7_37843597_37905397	37848245	G G	GAAGAAGA others(25): Show GAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	388	0.0026	32	c.-72 others(41): Show c.-724_-723insAAGAAGAGGAAGAAGAGGAAGAAGAGGAAGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		351		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA20805.hp2 HG00140.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0054 a0001c0001t0005g0055 a0001c0001t0004g0054 a0001c0001t0005g0055	2	258	0.0078	32	c.86- others(49): Show c.86-47933_86-47932insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0004 a0001c0001t0026g0004	1	258	0.0039	32	c.86- others(49): Show c.86-47933_86-47932insTTTTTTTTGTTTTTTTTTTTTTTTTTTT TTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183364655	A A	ATTTCTTT others(25): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01167.hp1 others(16): Show HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01978.hp2 HG02155.hp1 HG02257.hp2 HG02300.hp2 HG02622.hp2 HG02698.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp2 NA18946.hp1 NA18970.hp2 NA18975.hp1 NA18983.hp2 NA19010.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0032 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0051 a0001c0001t0060 a0001c0001t0089	a0001c0001t0001g0045 a0001c0001t0002g0041 a0001c0001t0002g0153 others(16): Show a0001c0001t0001g0045 a0001c0001t0002g0041 a0001c0001t0002g0153 a0001c0001t0002g0250 a0001c0001t0003g0163 a0001c0001t0005g0076 a0001c0001t0005g0077 a0001c0001t0006g0098 a0001c0001t0010g0028 a0001c0001t0014g0071 a0001c0001t0032g0108 a0001c0001t0035g0161 a0001c0001t0038g0079 a0001c0001t0039g0050 a0001c0001t0040g0094 a0001c0001t0042g0058 a0001c0001t0051g0081 a0001c0001t0060g0048 a0001c0001t0089g0085	19	258	0.0736	32	c.85+ others(49): Show c.85+53527_85+53528insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMUR2_chr5_152386546_152410279	152397012	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01257.hp2 HG03492.hp1 others(1): Show HG01192.hp2 HG01257.hp2 HG03492.hp1 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0036 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0036 a0002c0003t0002g0070 a0002c0003t0002g0071	4	446	0.0090	32	c.811 others(49): Show c.811+1047_811+1048insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding	2/3			chr5	TogoVar
NOCT_chr4_139010781_139050939	139043980	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0198 a0001c0003t0008g0198	1	384	0.0026	32	c.461 others(47): Show c.461-635_461-634insTATATATATATATATATATATATATATATA TA	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NOCT_chr4_139010781_139050939	139044003	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0197 a0001c0003t0004g0197	1	384	0.0026	32	c.461 others(47): Show c.461-635_461-634insTATATATATATATATATATATATATATATA CA	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NOD2_chr16_50688606_50738075	50693465	C C	CGCTGCGG others(25): Show CGCTGCGGGGCTGCGGGGCTGCGGGGCTGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	312	0.0032	32	c.-20 others(41): Show c.-206_-205insGCTGCGGGGCTGCGGGGCTGCGGGGCTGCGGG	NOD2	ENSG00000167207.15	transcript	ENST00000647318.2	protein_coding		140		chr16	TogoVar
NOL10_chr2_10565754_10694975	10587160	C C	CATATATA others(25): Show CATATATACACATATATATACATATATACACAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	372	0.0027	32	c.184 others(51): Show c.1844+1882_1844+1883insATGTGTATATATGTATATATATGTGT ATATAT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL4L_chr20_32438059_32590333	32578138	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0146	1	196	0.0051	32	c.321 others(49): Show c.321+6431_321+6432insCTCCCTCCCTCCTTCCTTCCTTCCTTCC TTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	168	0.0060	32	c.773 others(49): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATAT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOP14_chr4_2932936_2968406	2945903	G G	GCTGCCGT others(25): Show GCTGCCGTGCACTCTCACTCCAGATCACCCTCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	422	0.0024	32	c.163 others(49): Show c.1635+477_1635+508dupTGAGGGTGATCTGGAGTGAGAGTGCACG GCAG	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	11/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2945953	T T	TCCAGATC others(25): Show TCCAGATCACCCTCACTGCCGTGCACTCTCACG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0195 a0003c0003t0003g0195	1	422	0.0024	32	c.163 others(49): Show c.1635+458_1635+459insCGTGAGAGTGCACGGCAGTGAGGGTGAT CTGG	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	11/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2946095	A A	ACTGCCGT others(25): Show ACTGCCGTGCACTCTCACTCCAGATCACCCTCG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp2 HG01358.hp1 others(6): Show HG01070.hp2 HG01175.hp2 HG01358.hp1 HG01981.hp1 HG02132.hp2 HG02523.hp2 HG03654.hp2 HG04228.hp2 NA19007.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0028 a0001c0001 a0015c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0015c0028t0002	a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0206 others(5): Show a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0002g0032 a0001c0001t0002g0167 a0001c0001t0003g0168 a0015c0028t0002g0207	9	422	0.0213	32	c.163 others(49): Show c.1635+285_1635+316dupCGAGGGTGATCTGGAGTGAGAGTGCACG GCAG	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	11/17			chr4	TogoVar
NOP2_chr12_6551871_6573291	6568035	A A	AACTCACT others(25): Show AACTCACTCAGCACTCCCGACTCAGCACCCGCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19043.hp1 HG02572.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0046 a0004c0004t0001g0047 a0001c0001t0001g0046 a0004c0004t0001g0047	2	424	0.0047	32	c.-5+ others(45): Show c.-5+140_-4-114dupCGCGGGTGCTGAGTCGGGAGTGCTGAGTGAGT	NOP2	ENSG00000111641.13	transcript	ENST00000322166.10	protein_coding	1/15			chr12	TogoVar
NOP53_chr19_47740546_47762058	47742767	C C	CCGCCTCT others(25): Show CCGCCTCTCTGCCTACCACCATTCCATATTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0001 a0015c0028t0001	a0015c0028t0001g0092 a0015c0028t0001g0092	1	404	0.0025	32	c.-27 others(43): Show c.-2793_-2792insCGCCTCTCTGCCTACCACCATTCCATATTTAA	NOP53	ENSG00000105373.19	transcript	ENST00000246802.10	protein_coding		2778		chr19	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(25): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0061 a0001c0004t0003g0061	1	182	0.0055	32	c.105 others(51): Show c.105+11493_105+11494insATATATATTTTTTTTTTTTTTTTTTT TTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	182	0.0055	32	c.177 others(51): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117204347	A A	ATGTTAAA others(25): Show ATGTTAAATTGTTCCCGGCTGCCTCTGGGGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0073 a0001c0014t0073	a0001c0014t0073g0038 a0001c0014t0073g0038	1	294	0.0034	32	c.10 others(45): Show c.10961_*10962insCTGCCCCAGAGGCAGCCGGGAACAATTTAACA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding		3794		chr12	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0129 a0001c0001t0115g0129	1	294	0.0034	32	c.253 others(51): Show c.2531+2112_2531+2113insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28			chr12	TogoVar
NOS3_chr7_150986017_151019588	150995863	A A	ACACCCCT others(25): Show ACACCCCTCCTCCCTCTCCCCGTCCCACCCCTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG03471.hp2 others(1): Show HG02630.hp1 HG02818.hp1 HG03471.hp2 HG03516.hp2	a0003 a0003	a0003c0006 a0003c0014 a0003c0006 a0003c0014	a0003c0006t0001 a0003c0014t0005 a0003c0006t0001 a0003c0014t0005	a0003c0006t0001g0093 a0003c0006t0001g0334 a0003c0006t0001g0335 others(1): Show a0003c0006t0001g0093 a0003c0006t0001g0334 a0003c0006t0001g0335 a0003c0014t0005g0333	4	382	0.0105	32	c.271 others(47): Show c.271-521_271-520insGTCCCACCCCTGCACCCCTCCTCCCTCTCC CC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOS3_chr7_150986017_151019588	150995917	T T	TGTCCCAT others(25): Show TGTCCCATCCCTGCACCCTTCCTCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	382	0.0026	32	c.271 others(47): Show c.271-437_271-406dupTTCCTCCCTCTCCCCGTCCCATCCCTGCAC CC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146200438	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	1	60	0.0167	32	c.-44 others(51): Show c.-44-11058_-44-11057insATATATATATATATATATATATATAT ATATTT	NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4			chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149466275	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0028 a0028	a0028c0038 a0028c0038	a0028c0038t0031 a0028c0038t0031	a0028c0038t0031g0081 a0028c0038t0031g0081	1	260	0.0039	32	c.21 others(43): Show c.2122_*2123insTTTATATATATATATATATATATATATATATA	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	5/5	2123		chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041055	A A	AATATATA others(25): Show AATATATATATATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18983.hp1 NA19054.hp1 others(1): Show HG04184.hp2 NA18983.hp1 NA19054.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0145 a0001c0003t0003g0153 a0001c0003t0003g0154 others(1): Show a0001c0003t0003g0145 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0161	4	168	0.0238	32	c.74- others(49): Show c.74-11069_74-11068insATATATATATATATATGTATATATATAT ATAT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041057	A A	AATATATA others(25): Show AATATATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0143 a0001c0005t0003g0143	1	168	0.0060	32	c.74- others(49): Show c.74-11071_74-11070insATATATATATATATATATGTATATATAT ATAT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar

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