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
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00738.hp2 others(14): Show HG00423.hp2 HG00609.hp1 HG00738.hp2 HG01261.hp2 HG01934.hp1 HG02027.hp1 HG02056.hp1 HG02080.hp1 HG03831.hp1 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18961.hp1 NA18977.hp1 NA18998.hp1 NA19009.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0100 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0100 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0001g0184 a0001c0001t0001g0204 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0235	17	360	0.0472	25	c.379 others(42): Show c.379+1080_379+1081insTTTTTTTTTTTTTTTTTTTTTTTTT	NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4			chr16	TogoVar
NDUFAF6_chr8_95019989_95063710	95046032	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	336	0.0030	25	c.580 others(40): Show c.580+393_580+417dupTATTTTATTTTATTTTATTTTATTT	NDUFAF6	ENSG00000156170.14	transcript	ENST00000396124.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
NDUFB2_chr7_140691708_140711643	140706031	T T	TTGTTATG others(18): Show TTGTTATGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02647.hp2 others(2): Show HG02145.hp2 HG02451.hp2 HG02647.hp2 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0047 a0001c0001t0001g0011 a0001c0001t0001g0047	5	306	0.0163	25	c.30 others(40): Show c.30-527_*30-503dupATGTTATGTTATGTTATGTTATGTT	NDUFB2	ENSG00000090266.13	transcript	ENST00000247866.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NDUFB2_chr7_140691708_140711643	140706043	G G	GTTATGTT others(18): Show GTTATGTTGTTATGTTATGTTATGTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG06807.hp1 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0057 a0001c0001t0001g0061	2	306	0.0065	25	c.30 others(40): Show c.30-513_*30-512insGTTATGTTATGTTATGTTTTATGTT	NDUFB2	ENSG00000090266.13	transcript	ENST00000247866.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NDUFB2_chr7_140691708_140711643	140706060	T T	TATGTTAT others(18): Show TATGTTATGTTATGTTATGTTTTATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0051 a0001c0001t0001g0055	2	306	0.0065	25	c.30 others(40): Show c.30-503_*30-502insATGTTATGTTATGTTATGTTTTATG	NDUFB2	ENSG00000090266.13	transcript	ENST00000247866.9	protein_coding	3/3			chr7	TogoVar
NDUFB2_chr7_140691708_140711643	140706060	T T	TTTATGTT others(18): Show TTTATGTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	306	0.0033	25	c.30 others(40): Show c.30-478_*30-454dupGTTATGTTATGTTATGTTATGTTAT	NDUFB2	ENSG00000090266.13	transcript	ENST00000247866.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NDUFC2_chr11_78063297_78084862	78078728	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18956.hp2 HG02083.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0123 a0001c0001t0017g0124 a0001c0001t0001g0123 a0001c0001t0017g0124	2	420	0.0048	25	c.166 others(40): Show c.166+850_166+851insAAAAAAAAAAAAAAAAAAAAAAAAA	NDUFC2	ENSG00000151366.13	transcript	ENST00000281031.5	protein_coding	1/2			chr11	TogoVar
NDUFS8_chr11_68025681_68041644	68030111	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	408	0.0025	25	c.-62 others(34): Show c.-623_-622insAAAAAAAAAAAAAAAAAAAAAAAAA	NDUFS8	ENSG00000110717.13	transcript	ENST00000313468.10	protein_coding		569		chr11	TogoVar
NEB_chr2_151480339_151739476	151670425	C C	CCATACAG others(18): Show CCATACAGACGTGTCTCAGAATGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00639.hp1 others(20): Show HG00423.hp2 HG00558.hp2 HG00639.hp1 HG00741.hp2 HG01884.hp1 HG01993.hp1 HG02040.hp2 HG02080.hp2 HG02165.hp2 HG02258.hp1 HG02622.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03579.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18950.hp2 NA18960.hp2 NA19005.hp2 NA19079.hp1	a0006 a0010 a0028 others(15): Show a0006 a0010 a0028 a0030 a0031 a0032 a0034 a0035 a0036 a0081 a0082 a0083 a0084 a0087 a0107 a0130 a0131 a0132	a0006c0012 a0006c0079 a0010c0137 others(18): Show a0006c0012 a0006c0079 a0010c0137 a0010c0138 a0010c0139 a0028c0021 a0030c0076 a0031c0078 a0032c0077 a0034c0147 a0035c0146 a0036c0029 a0081c0141 a0082c0140 a0083c0134 a0084c0133 a0087c0132 a0107c0045 a0130c0150 a0131c0149 a0132c0151	a0006c0012t0001 a0006c0079t0001 a0010c0137t0001 others(18): Show a0006c0012t0001 a0006c0079t0001 a0010c0137t0001 a0010c0138t0001 a0010c0139t0001 a0028c0021t0001 a0030c0076t0001 a0031c0078t0001 a0032c0077t0001 a0034c0147t0001 a0035c0146t0001 a0036c0029t0001 a0081c0141t0001 a0082c0140t0001 a0083c0134t0001 a0084c0133t0001 a0087c0132t0001 a0107c0045t0001 a0130c0150t0001 a0131c0149t0001 a0132c0151t0001	a0006c0012t0001g0172 a0006c0012t0001g0173 a0006c0079t0001g0170 others(20): Show a0006c0012t0001g0172 a0006c0012t0001g0173 a0006c0079t0001g0170 a0010c0137t0001g0093 a0010c0138t0001g0091 a0010c0139t0001g0106 a0028c0021t0001g0182 a0028c0021t0001g0183 a0030c0076t0001g0174 a0031c0078t0001g0171 a0032c0077t0001g0175 a0034c0147t0001g0178 a0035c0146t0001g0103 a0036c0029t0001g0176 a0081c0141t0001g0092 a0082c0140t0001g0094 a0083c0134t0001g0153 a0084c0133t0001g0154 a0087c0132t0001g0101 a0107c0045t0001g0028 a0130c0150t0001g0180 a0131c0149t0001g0181 a0132c0151t0001g0179	23	188	0.1223	25	c.450 others(42): Show c.4506+573_4506+597dupTCTCATTCTGAGACACGTCTGTATG	NEB	ENSG00000183091.21	transcript	ENST00000397345.8	protein_coding	38/181			chr2	TogoVar
NECAB1_chr8_90786775_90964393	90922486	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02074.hp1 NA18944.hp1 others(4): Show HG01256.hp1 HG02074.hp1 NA18944.hp1 NA18966.hp1 NA19075.hp2 NA19083.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0069 others(4): Show a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0069 a0001c0001t0002g0077 a0001c0001t0002g0111 a0001c0001t0015g0053 a0001c0001t0015g0083	7	248	0.0282	25	c.495 others(42): Show c.495-3025_495-3024insTTTTTTTTTTTTTTTTTTTTTTTTT	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90947297	A A	AACTAAAA others(18): Show AACTAAAAACATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19088.hp2 NA18972.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0070 a0001c0001t0002g0077	2	248	0.0081	25	c.861 others(42): Show c.861-2508_861-2507insTAAAAACATACACACACACACACAC	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD1_chr12_96902257_96958780	96932457	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	400	0.0025	25	c.490 others(42): Show c.490-2519_490-2518insTATATATATATATATATATATATAT	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15			chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932459	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	400	0.0025	25	c.490 others(42): Show c.490-2517_490-2516insTATATATATATATATATATATATAT	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15			chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0250 a0001c0001t0009g0250	1	400	0.0025	25	c.490 others(42): Show c.490-2512_490-2511insAAAAAAAAAAAAATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	400	0.0025	25	c.490 others(42): Show c.490-2512_490-2511insAAAAAAAAAAATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	400	0.0025	25	c.490 others(42): Show c.490-2512_490-2511insAAAAAAATATATATATATATATATA	NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEFL_chr8_24945955_24961612	24960279	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA19030.hp2 HG02895.hp1 HG02897.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	3	408	0.0074	25	c.-37 others(36): Show c.-3765_-3764insTTTTTTTTTTTTTTTTTTTTTTTTT	NEFL	ENSG00000277586.4	transcript	ENST00000610854.2	protein_coding		3668		chr8	TogoVar
NEGR1_chr1_71390943_72287539	71811858	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0042 a0001c0001t0013g0042	1	64	0.0156	25	c.410 others(44): Show c.410-35586_410-35562dupATAAAATAAAATAAAATAAAATAAA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEK10_chr3_27101484_27374383	27273944	C C	CCTCTGAA others(18): Show CCTCTGAAGGTCATTCAGATTCTAAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01884.hp1 HG02559.hp2 others(6): Show HG01496.hp2 HG01884.hp1 HG02559.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0017 a0001c0002 a0002c0017	a0001c0002t0008 a0001c0002t0023 a0001c0002t0038 others(3): Show a0001c0002t0008 a0001c0002t0023 a0001c0002t0038 a0001c0002t0039 a0001c0002t0054 a0002c0017t0026	a0001c0002t0008g0056 a0001c0002t0008g0058 a0001c0002t0008g0059 others(6): Show a0001c0002t0008g0056 a0001c0002t0008g0058 a0001c0002t0008g0059 a0001c0002t0008g0065 a0001c0002t0023g0066 a0001c0002t0038g0057 a0001c0002t0039g0064 a0001c0002t0054g0095 a0002c0017t0026g0161	9	234	0.0385	25	c.201 others(46): Show c.2014+10633_2014+10657dupATTAGAATCTGAATGACCTTCAGA G	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NEK11_chr3_131021877_131355465	131255127	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	292	0.0034	25	c.162 others(46): Show c.1621+11633_1621+11634insAAGAAAGAAAGAAAGAAAGAAAGG A	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131325300	A A	ACCATTTA others(18): Show ACCATTTACTTAAAGTGTAAAGACAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00735.hp2 others(48): Show HG00544.hp2 HG00621.hp1 HG00735.hp2 HG01069.hp1 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18948.hp2 NA18952.hp1 NA18984.hp2 NA19000.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19079.hp1 NA19081.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0014	a0003c0003 a0003c0011 a0003c0013 others(3): Show a0003c0003 a0003c0011 a0003c0013 a0004c0006 a0006c0008 a0014c0020	a0003c0003t0001 a0003c0011t0001 a0003c0013t0001 others(3): Show a0003c0003t0001 a0003c0011t0001 a0003c0013t0001 a0004c0006t0001 a0006c0008t0001 a0014c0020t0001	a0003c0003t0001g0004 a0003c0003t0001g0005 a0003c0003t0001g0006 others(48): Show a0003c0003t0001g0004 a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0003t0001g0040 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0048 a0003c0003t0001g0055 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0070 a0003c0003t0001g0072 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0089 a0003c0003t0001g0109 a0003c0003t0001g0139 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0173 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0194 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0232 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0245 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0265 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0273 a0003c0011t0001g0271 a0003c0013t0001g0082 a0004c0006t0001g0041 a0004c0006t0001g0046 a0004c0006t0001g0047 a0004c0006t0001g0197 a0006c0008t0001g0073 a0014c0020t0001g0049	51	292	0.1747	25	c.171 others(46): Show c.1719-24256_1719-24232dupCCATTTACTTAAAGTGTAAAGACA T	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NELL1_chr11_20664586_21580686	20895271	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0008 a0003c0015t0001g0008	1	88	0.0114	25	c.603 others(42): Show c.603+9750_603+9774dupAAAAAAAAAAAAAAAAAAAAAAAAA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915717	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0066 a0002c0003t0006g0066	1	88	0.0114	25	c.604 others(42): Show c.604-2464_604-2463insATATATATATATATATATATATATT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915717	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0081 a0002c0010t0003g0081	1	88	0.0114	25	c.604 others(42): Show c.604-2464_604-2463insATATATATATATATATTTTTTTTTT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915717	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	88	0.0114	25	c.604 others(42): Show c.604-2464_604-2463insATATATATATATATTTTTTTTTTTT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915717	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp2 HG02976.hp1 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0016 a0002c0003t0001g0047 a0002c0003t0001g0016 a0002c0003t0001g0047	2	88	0.0227	25	c.604 others(42): Show c.604-2464_604-2463insATATATATATATTTTTTTTTTTTTT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL2_chr12_44503278_44881315	44528097	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20300.hp2 HG02886.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0111 a0001c0001t0002g0059 a0001c0001t0002g0111	2	158	0.0127	25	c.180 others(44): Show c.1804+4459_1804+4483dupTTTTTTTTTTTTTTTTTTTTTTTTT	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	16/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	158	0.0063	25	c.166 others(46): Show c.1663+19884_1663+19885insATATATTTTTTTTTTTTTTTTTTT T	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01515.hp1 HG02257.hp2 HG01071.hp2 HG01515.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0064 a0001c0001t0001g0123 a0001c0001t0005g0036 a0001c0001t0001g0064 a0001c0001t0001g0123 a0001c0001t0005g0036	3	158	0.0190	25	c.166 others(46): Show c.1663+19884_1663+19885insATATATATATATATATTTTTTTTT T	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19			chr12	TogoVar
NELL2_chr12_44503278_44881315	44797946	T T	TGATGGAA others(18): Show TGATGGAATAAAATCATTCCATCCTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(21): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG01071.hp1 HG01099.hp1 HG01261.hp2 HG01515.hp1 HG01981.hp1 HG02015.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02280.hp1 HG02523.hp2 HG02630.hp1 HG03225.hp2 NA18952.hp1 NA18982.hp1 NA19063.hp2 NA19074.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0007	a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0092 others(21): Show a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0137 a0001c0001t0002g0055 a0001c0001t0003g0048 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0093 a0001c0001t0003g0133 a0001c0001t0003g0141 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0015 a0001c0001t0005g0033 a0001c0001t0005g0036 a0001c0001t0005g0041 a0001c0001t0006g0035 a0001c0001t0006g0037 a0001c0001t0012g0025 a0001c0002t0007g0019 a0001c0002t0007g0022	24	158	0.1519	25	c.336 others(44): Show c.336-17949_336-17925dupTAGGATGGAATGATTTTATTCCATC	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19			chr12	TogoVar
NEMF_chr14_49777083_49857788	49806257	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01433.hp2 HG02056.hp2 others(4): Show HG00621.hp1 HG01433.hp2 HG02056.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0053 a0001c0001t0001g0078 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0159 a0001c0001t0001g0173	7	222	0.0315	25	c.174 others(42): Show c.1745-125_1745-124insTATATATATATATATATATATATAT	NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding	18/32			chr14	TogoVar
NEO1_chr15_73047463_73310205	73222091	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0083 a0002c0006t0003g0083	1	324	0.0031	25	c.129 others(46): Show c.1292-14249_1292-14225dupTTTTTTTTTTTTTTTTTTTTTTTT T	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73244954	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03516.hp2 HG01175.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0021 a0001c0002t0001 a0001c0003t0021	a0001c0002t0001g0284 a0001c0003t0021g0060 a0001c0002t0001g0284 a0001c0003t0021g0060	2	324	0.0062	25	c.160 others(42): Show c.1606+461_1606+485dupAAAAAAAAAAAAAAAAAAAAAAAAA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03579.hp2 HG00609.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0046 a0001c0001t0007g0243 a0001c0001t0003g0046 a0001c0001t0007g0243	2	324	0.0062	25	c.209 others(44): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NETO2_chr16_47072703_47148945	47133604	C C	CATAAAAT others(18): Show CATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02970.hp1 HG03516.hp2 HG02818.hp1 HG02970.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0108	3	168	0.0179	25	c.35- others(40): Show c.35-1604_35-1580dupTTTATTTTATTTTATTTTATTTTAT	NETO2	ENSG00000171208.10	transcript	ENST00000562435.6	protein_coding	1/8			chr16	TogoVar
NEXMIF_chrX_74727856_74930452	74796209	T T	TTATATAT others(18): Show TTATATATATATACATATATAATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	224	0.0045	25	c.-47 others(44): Show c.-47-50537_-47-50513dupTATATTATATATGTATATATATATA	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar
NEXN_chr1_77883624_77948895	77887975	C C	CTTCTTCT others(18): Show CTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	268	0.0037	25	c.-83 others(34): Show c.-837_-836insTTCTTCTTCTTCTTCTTCTTCTTCT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		648		chr1	TogoVar
NEXN_chr1_77883624_77948895	77887978	C C	CTTCTTCT others(18): Show CTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0196 a0003c0007t0002g0196	1	268	0.0037	25	c.-83 others(34): Show c.-834_-833insTTCTTCTTCTTCTTCTTCTTCTTCT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		645		chr1	TogoVar
NEXN_chr1_77883624_77948895	77888009	T T	TTCTTCTT others(18): Show TTCTTCTTTCTTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0168 a0001c0001t0017g0168	1	268	0.0037	25	c.-80 others(34): Show c.-803_-802insTCTTCTTTCTTTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		614		chr1	TogoVar
NFASC_chr1_204823652_205027822	204877068	T T	TTATATAT others(18): Show TTATATATATATAATATATTTATTTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0011 a0002c0008t0011	a0002c0008t0011g0126 a0002c0008t0011g0126	1	226	0.0044	25	c.-19 others(46): Show c.-199-43558_-199-43534dupATATATAATATATTTATTTATATA T	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204877068	T T	TTATATAT others(18): Show TTATATATATATAATATATTTATTTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0255 a0001c0002t0009g0255	1	264	0.0038	25	c.-91 others(42): Show c.-91+6004_-91+6028dupATATATAATATATTTATTTATATAT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19011.hp2 NA18984.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0179 a0001c0001t0003g0180	2	380	0.0053	25	c.177 others(44): Show c.1775-2714_1775-2713insAAAAAAAAAAAAAAAAAAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC2_chr20_51381963_51547719	51394126	G G	GGGTAGGA others(18): Show GGGTAGGAACCTCCTCTTTCTGAAAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18967.hp2 NA18998.hp1 NA18960.hp1 NA18967.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0093 a0001c0001t0003g0164 a0001c0002t0003g0266 a0001c0001t0003g0093 a0001c0001t0003g0164 a0001c0002t0003g0266	3	316	0.0095	25	c.45 others(42): Show c.45-2700_*45-2676dupATTTCAGAAAGAGGAGGTTCCTACC	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFATC3_chr16_68080370_68234259	68088482	G G	GTATATAA others(18): Show GTATATAATATATAAATATATATTTA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	188	0.0053	25	c.103 others(42): Show c.103+2711_103+2712insAATATATATTTATATATAATATATA	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC3_chr16_68080370_68234259	68104653	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA20752.hp2 HG01346.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0123 a0001c0001t0009g0127 a0001c0001t0009g0123 a0001c0001t0009g0127	2	188	0.0106	25	c.104 others(44): Show c.104-17318_104-17317insTTTTTTTTTTTTTTTTTTTTTTTTT	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFIA_chr1_61077561_61467788	61310764	T T	TCTTCCTT others(18): Show TCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0049 a0001c0001t0012g0049	1	156	0.0064	25	c.626 others(44): Show c.626-21748_626-21747insCTTCCTTCCTTCCTTCCTTCCTTCC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10			chr1	TogoVar
NFIA_chr1_61077561_61467788	61319790	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0114 a0001c0001t0058g0114	1	156	0.0064	25	c.626 others(44): Show c.626-12722_626-12721insCACACACACACACACACACACACAC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10			chr1	TogoVar
NFIC_chr19_3361583_3474217	3366545	G G	GGGGTTGG others(18): Show GGGGTTGGGGGGGGCGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0224 a0001c0001t0224	a0001c0001t0224g0185 a0001c0001t0224g0185	1	300	0.0033	25	c.-92 others(32): Show c.-92_-91insGGGTTGGGGGGGGCGGGGGGGGGGT	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding		37		chr19	TogoVar
NFIL3_chr9_91404045_91428832	91425871	A A	ATATCCAT others(18): Show ATATCCATATTAGTTGCCTTTTTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	454	0.0022	25	c.-24 others(36): Show c.-2405_-2404insCCCAAAAAGGCAACTAATATGGATA	NFIL3	ENSG00000165030.4	transcript	ENST00000297689.4	protein_coding		2040		chr9	TogoVar
NFU1_chr2_69391126_69442435	69404615	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0334 a0002c0002t0001g0334	1	368	0.0027	25	c.545 others(42): Show c.545+1406_545+1407insAAAAAAAAAAAAAAAAAAAAAAAAA	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	6/7			chr2	TogoVar

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