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
NFIC_chr19_3361583_3474217	3467788	T T	TATATATA others(31): Show TATATATATATATATACATATATATATATATATATATAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp1 NA18966.hp2 NA18970.hp2 others(2): Show NA18747.hp1 NA18966.hp2 NA18970.hp2 NA19005.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0216 a0001c0001t0220 a0001c0001t0009 a0001c0001t0216 a0001c0001t0220	a0001c0001t0009g0072 a0001c0001t0009g0123 a0001c0001t0009g0268 others(2): Show a0001c0001t0009g0072 a0001c0001t0009g0123 a0001c0001t0009g0268 a0001c0001t0216g0148 a0001c0001t0220g0091	5	300	0.0167	38	c.50 others(49): Show c.5020_*5021insTATATATATATATACATATATATATATATATATA TAAA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	11/11	5021	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663726	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTATGTGTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02809.hp1 others(1): Show HG01891.hp2 HG02630.hp2 HG02809.hp1 HG03453.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0005 a0006c0006 a0001c0001 a0005c0005 a0006c0006	a0001c0001t0058 a0001c0001t0062 a0005c0005t0018 others(1): Show a0001c0001t0058 a0001c0001t0062 a0005c0005t0018 a0006c0006t0064	a0001c0001t0058g0122 a0001c0001t0062g0119 a0005c0005t0018g0186 others(1): Show a0001c0001t0058g0122 a0001c0001t0062g0119 a0005c0005t0018g0186 a0006c0006t0064g0064	4	366	0.0109	38	c.-16 others(59): Show c.-163-10814_-163-10813insATGTGTGTGTGTGTGTATGTGTGT GTATGTGTGTGTGT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFU1_chr2_69391126_69442435	69404615	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	368	0.0027	38	c.545 others(55): Show c.545+1406_545+1407insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	6/7			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995510	T T	TATATACA others(31): Show TATATACAGTATGTATACTATATATATACAGTATGTATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	362	0.0028	38	c.-75 others(57): Show c.-75+17557_-75+17558insTATACATACTGTATATATATAGTATA CATACTGTATAT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995578	A A	ACAGTATG others(31): Show ACAGTATGTATACTATATATATACAGTATGTATACTATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp1 HG02896.hp2 others(3): Show HG02486.hp1 HG02886.hp1 HG02896.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0015 a0001c0002t0011 a0001c0001t0003 a0001c0001t0015 a0001c0002t0011	a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0015g0276 others(3): Show a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0015g0276 a0001c0001t0015g0280 a0001c0001t0015g0281 a0001c0002t0011g0131	6	362	0.0166	38	c.-75 others(57): Show c.-75+17489_-75+17490insCATAGTATACATACTGTATATATATA GTATACATACTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGLY1_chr3_25713944_25788443	25743353	T T	TTGTTCAC others(31): Show TTGTTCACTGGCTACAGCCACCATGCTCTCCCTGCCATC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	264	0.0038	38	c.659 others(55): Show c.659-3592_659-3555dupGATGGCAGGGAGAGCATGGTGGCTGTAG CCAGTGAACA	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	4/11			chr3	TogoVar
NID2_chr14_51999809_52074059	52035856	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp2 HG00639.hp1 HG02109.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0303 a0004c0012t0002g0307 a0004c0012t0002g0303 a0004c0012t0002g0307	2	372	0.0054	38	c.225 others(57): Show c.2257+2890_2257+2891insTATATATATATATATATATATATATA TATATATATATA	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19087.hp2 NA19056.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0187 a0001c0001t0001g0033 a0001c0001t0001g0187	2	404	0.0050	38	c.33+ others(55): Show c.33+33431_33+33432insATATATATATATATATATTTTTTTTTTT TTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	404	0.0025	38	c.33+ others(55): Show c.33+33431_33+33432insATATATATATATATATATATATTTTTTT TTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINL_chr20_25447697_25590531	25469297	C C	CTGCCCTG others(31): Show CTGCCCTGTCCCCCGACTCTCACTGGTGAGTACCCCCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	310	0.0032	38	c.335 others(55): Show c.3353+693_3353+694insAGGGGGGTACTCACCAGTGAGAGTCGGG GGACAGGGCA	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23			chr20	TogoVar
NINL_chr20_25447697_25590531	25469328	A A	ACCCCCTT others(31): Show ACCCCCTTGCCCTGTCCCCCGACTCTCACTGGTGAGTAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0234	1	310	0.0032	38	c.335 others(55): Show c.3353+662_3353+663insGTACTCACCAGTGAGAGTCGGGGGACAG GGCAAGGGGG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23			chr20	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(31): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0029 a0001c0005t0005g0029	1	332	0.0030	38	c.135 others(57): Show c.135+13241_135+13242insCTCTCTCTCTCTCTCTCTCTATATAT ATATATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	332	0.0030	38	c.135 others(57): Show c.135+13241_135+13242insCTCTCTCTCTATATATATATATATAT ATATATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(31): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	338	0.0030	38	c.54+ others(53): Show c.54+7069_54+7070insCTCTCTCTCTCTCTCTCTATATATATATAT ATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(31): Show TATATATATATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	338	0.0030	38	c.54+ others(53): Show c.54+7069_54+7070insCTCTCTCTCTCTATATATATATATATATAT ATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	338	0.0030	38	c.54+ others(53): Show c.54+7069_54+7070insCTCTCTCTATATATATATATATATATATAT ATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	338	0.0030	38	c.54+ others(53): Show c.54+7069_54+7070insCTCTCTATATATATATATATATATATATAT ATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN2_chr6_123798865_124830640	123911782	C C	CATATATA others(31): Show CATATATATGTATATATATATATGTATATATATATGTGT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	66	0.0152	38	c.54+ others(57): Show c.54+107536_54+107537insGTATATATATATATGTATATATATAT GTGTATATATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKX1-2_chr10_124440243_124455035	124444486	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0006 a0002c0004t0004g0006	1	446	0.0022	38	c.29 others(49): Show c.2942_*2943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding		756		chr10	TogoVar
NLGN1_chr3_173392744_174299372	173539794	A A	ATAACACA others(31): Show ATAACACATATATATGTACATATATAACACACATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0041 a0001c0004t0007g0041	1	44	0.0227	38	c.-32 others(59): Show c.-320-64483_-320-64482insACACATATATATGTACATATATAA CACACATATATGTA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN4X_chrX_5885042_6233867	6116527	T T	TGCCTCAG others(31): Show TGCCTCAGCCCCCGCCTCCCAGGTTCAAGTGATTCTTCG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18966.hp1 NA18955.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0091 a0001c0001t0007g0092	2	128	0.0156	38	c.472 others(57): Show c.472+34430_472+34467dupCGAAGAATCACTTGAACCTGGGAGGC GGGGGCTGAGGC	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03486.hp2 HG02055.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0173 a0001c0001t0001g0174	2	394	0.0051	38	c.-11 others(57): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRP13_chr19_55890945_55937336	55930874	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	440	0.0023	38	c.319 others(55): Show c.319+1118_319+1119insTATATATATATATATATATATATATATA TATATATAAA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01934.hp2 HG02698.hp1 others(1): Show HG01099.hp2 HG01934.hp2 HG02698.hp1 NA18946.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0003 a0003c0006 a0005c0056 a0002c0003 a0003c0006 a0005c0056	a0002c0003t0003 a0003c0006t0001 a0005c0056t0001 a0002c0003t0003 a0003c0006t0001 a0005c0056t0001	a0002c0003t0003g0242 a0002c0003t0003g0382 a0003c0006t0001g0214 others(1): Show a0002c0003t0003g0242 a0002c0003t0003g0382 a0003c0006t0001g0214 a0005c0056t0001g0398	4	429	0.0093	38	c.326 others(53): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998710	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATGTGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG02622.hp1 others(12): Show HG01884.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2 NA19043.hp2 NA19062.hp2 NA19240.hp2 NA20129.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0008	a0001c0019 a0001c0023 a0003c0008 others(5): Show a0001c0019 a0001c0023 a0003c0008 a0003c0040 a0003c0045 a0005c0025 a0007c0010 a0008c0017	a0001c0019t0001 a0001c0023t0001 a0003c0008t0001 others(5): Show a0001c0019t0001 a0001c0023t0001 a0003c0008t0001 a0003c0040t0001 a0003c0045t0001 a0005c0025t0001 a0007c0010t0001 a0008c0017t0001	a0001c0019t0001g0122 a0001c0023t0001g0244 a0001c0023t0001g0248 others(12): Show a0001c0019t0001g0122 a0001c0023t0001g0244 a0001c0023t0001g0248 a0001c0023t0001g0249 a0001c0023t0001g0314 a0003c0008t0001g0245 a0003c0008t0001g0246 a0003c0008t0001g0247 a0003c0040t0001g0165 a0003c0040t0001g0177 a0003c0045t0001g0090 a0005c0025t0001g0132 a0007c0010t0001g0385 a0008c0017t0001g0103 a0008c0017t0001g0146	15	396	0.0379	38	c.-10 others(49): Show c.-1016_-1015insTGTGTGTATATATATATATATGTGTATATATATA TATA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1015		chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998710	G G	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01516.hp2 HG02258.hp2 others(1): Show HG01192.hp2 HG01516.hp2 HG02258.hp2 HG02630.hp2	a0001 a0004 a0037 a0001 a0004 a0037	a0001c0001 a0001c0082 a0004c0053 others(1): Show a0001c0001 a0001c0082 a0004c0053 a0037c0091	a0001c0001t0001 a0001c0082t0001 a0004c0053t0001 others(1): Show a0001c0001t0001 a0001c0082t0001 a0004c0053t0001 a0037c0091t0001	a0001c0001t0001g0038 a0001c0082t0001g0168 a0004c0053t0001g0088 others(1): Show a0001c0001t0001g0038 a0001c0082t0001g0168 a0004c0053t0001g0088 a0037c0091t0001g0167	4	396	0.0101	38	c.-10 others(49): Show c.-1016_-1015insTGTGTGTGTATATATATATATATGTGTATATATA TATA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1015		chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998712	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATGTGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0223 a0002c0012t0002g0223	1	396	0.0025	38	c.-10 others(49): Show c.-1014_-1013insTGTGTGTATATATATATATATGTGTATATATATA TATA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1013		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993563	C C	CCCCCTCC others(31): Show CCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0027 a0005c0019t0027	a0005c0019t0027g0313 a0005c0019t0027g0313	1	350	0.0029	38	c.56 others(49): Show c.5650_*5651insCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4935		chr19	TogoVar
NMBR_chr6_142069484_142152122	142079104	G G	GAGAAAGA others(31): Show GAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02886.hp1 HG02145.hp1 HG02145.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0170 a0001c0001t0001g0237 a0001c0003t0001g0054 a0001c0001t0001g0170 a0001c0001t0001g0237 a0001c0003t0001g0054	3	330	0.0091	38	c.423 others(53): Show c.423-202_423-201insTTCTTTCTTTCTTTCTTTCTTTCTCTCTCT CTCTTTCT	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	2/3			chr6	TogoVar
NME1_chr17_51148559_51167168	51155777	G G	GCAAGTAA others(31): Show GCAAGTAAGTGGACTTCATTGTTCCCATTTTGATTCCTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0041 a0005c0006t0005g0041	1	384	0.0026	38	c.126 others(48): Show c.126_126+37dupAGTAAGTGGACTTCATTGTTCCCATTTTGATTCCT TCA	NME1	ENSG00000239672.8	transcript	ENST00000393196.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 NA18998.hp2 NA19043.hp2 HG01106.hp1 NA18998.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0052	3	413	0.0073	38	c.48 others(49): Show c.4818_*4819insAAAAAAAAAAATATATATATATATATATATATAT ATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18998.hp1 NA18945.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0018 a0001c0001t0001g0049	2	413	0.0048	38	c.48 others(49): Show c.4818_*4819insAAAAAAAAATATATATATATATATATATATATAT ATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	38	c.48 others(49): Show c.4818_*4819insAAAAAAATATATATATATATATATATATATATAT ATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME8_chr7_37843597_37905397	37882643	G G	GAAAGAAA others(31): Show GAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	388	0.0026	38	c.995 others(55): Show c.995-1659_995-1658insAAGAAAGAGAAAGAAAGAAAGAAAGAAA GAAAAAGAAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
NMU_chr4_55590231_55641298	55604015	G G	GTGTATAT others(31): Show GTGTATATATACGTATATATACATGTGTATATATACACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03942.hp2 HG04199.hp1 HG01261.hp2 HG03942.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192	3	412	0.0073	38	c.435 others(55): Show c.435+1259_435+1260insTGTGTATATATACACATGTATATATACG TATATATACA	NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding	7/9			chr4	TogoVar
NMU_chr4_55590231_55641298	55604017	G G	GTATATAT others(31): Show GTATATATGTATATATACATGTGTATATATACACATGTA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0364	1	412	0.0024	38	c.435 others(55): Show c.435+1257_435+1258insTACATGTGTATATATACACATGTATATA TACATATATA	NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding	7/9			chr4	TogoVar
NOC4L_chr12_132139457_132157468	132148948	C C	CGCCTCGC others(31): Show CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0080 a0013c0036t0001g0080	1	294	0.0034	38	c.901 others(51): Show c.901+56_901+57insTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149004	C C	CACACCAC others(31): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	294	0.0034	38	c.901 others(53): Show c.901+109_901+110insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOL10_chr2_10565754_10694975	10587074	T T	TATATACA others(31): Show TATATACATATATATACATATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0359 a0001c0004t0014g0359	1	372	0.0027	38	c.184 others(57): Show c.1844+1968_1844+1969insGTATATATATGTATATATATATGTAT ATATATGTATAT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10587158	C C	CATATATA others(31): Show CATATATATATACATATATATACATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0252 a0001c0002t0002g0252	1	372	0.0027	38	c.184 others(57): Show c.1844+1884_1844+1885insATATATATGTATATATGTATATATAT GTATATATATAT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	168	0.0060	38	c.773 others(55): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATTTTTTT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOMO1_chr16_14828721_14901157	14829080	G G	GATATCAC others(31): Show GATATCACAGTGGGTGTACACCCTCTCATATTATTCGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0236 a0002c0005t0001g0236	1	337	0.0030	38	c.-47 others(49): Show c.-4772_-4771insATATCACAGTGGGTGTACACCCTCTCATATTATT CGTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding		4640		chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01981.hp1 HG02040.hp1 HG00741.hp1 HG01981.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0161 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0161	3	337	0.0089	38	c.180 others(55): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATATTTTT	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP10_chr15_34336719_34348136	34345267	A A	ACCCCCCC others(31): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	449	0.0022	38	c.-21 others(49): Show c.-2195_-2194insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGG	NOP10	ENSG00000182117.7	transcript	ENST00000328848.6	protein_coding		2132		chr15	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03195.hp1 HG01358.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0007 a0001c0002t0001 a0001c0003t0007	a0001c0002t0001g0029 a0001c0003t0007g0073 a0001c0002t0001g0029 a0001c0003t0007g0073	2	182	0.0110	38	c.177 others(57): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264469	C C	CTCTCCTC others(31): Show CTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	182	0.0055	38	c.178 others(57): Show c.178-22875_178-22874insTCTCCTCTCCTCTCCTCTCCTCCCCT CCCCTCCCCTGT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NOS1_chr12_117203142_117366626	117335729	T T	TGAGAGAG others(31): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03491.hp1 HG03492.hp2 HG00733.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0005 a0001c0013t0127 a0001c0013t0129 a0001c0004t0005 a0001c0013t0127 a0001c0013t0129	a0001c0004t0005g0149 a0001c0013t0127g0233 a0001c0013t0129g0221 a0001c0004t0005g0149 a0001c0013t0127g0233 a0001c0013t0129g0221	3	294	0.0102	38	c.-42 others(57): Show c.-420-4278_-420-4241dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149466275	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0026 a0026	a0026c0035 a0026c0035	a0026c0035t0030 a0026c0035t0030	a0026c0035t0030g0080 a0026c0035t0030g0080	1	260	0.0039	38	c.21 others(49): Show c.2122_*2123insTTTATATATATATATATATATATATATATATATA TATA	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	5/5	2123		chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041055	A A	AATATATA others(31): Show AATATATATATATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0155 a0001c0003t0003g0155	1	168	0.0060	38	c.74- others(55): Show c.74-11069_74-11068insATATATATATATATATATATATGTATAT ATATATATAT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH3_chr19_15154038_15205995	15173052	C C	CCTCCTCC others(31): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	340	0.0029	38	c.473 others(57): Show c.4736+1015_4736+1016insAAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAG	NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32			chr19	TogoVar

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