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 per page.

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
NRXN3_chr14_78165373_79873291	78943621	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp1 HG02922.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0012 a0001c0001t0014 a0001c0003t0012	a0001c0001t0014g0004 a0001c0003t0012g0019 a0001c0001t0014g0004 a0001c0003t0012g0019	2	24	0.0833	-34	c.227 others(55): Show c.2276-13596_2276-13563delATATATATATATATATATATATAT ATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79026948	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp2 HG01243.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0004 a0001c0008t0004 a0001c0003t0004 a0001c0008t0004	a0001c0003t0004g0015 a0001c0008t0004g0014 a0001c0003t0004g0015 a0001c0008t0004g0014	2	24	0.0833	-34	c.326 others(55): Show c.3262+38809_3262+38842delTTATATATATATATATATATATAT ATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79026950	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01109.hp2 others(5): Show HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01243.hp2 HG03486.hp1 HG03516.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0002c0005	a0001c0001t0010 a0001c0003t0012 a0001c0004t0001 others(5): Show a0001c0001t0010 a0001c0003t0012 a0001c0004t0001 a0001c0004t0005 a0001c0006t0001 a0001c0010t0001 a0002c0005t0005 a0002c0005t0016	a0001c0001t0010g0006 a0001c0003t0012g0019 a0001c0004t0001g0005 others(5): Show a0001c0001t0010g0006 a0001c0003t0012g0019 a0001c0004t0001g0005 a0001c0004t0005g0003 a0001c0006t0001g0023 a0001c0010t0001g0012 a0002c0005t0005g0002 a0002c0005t0016g0022	8	24	0.3333	-34	c.326 others(55): Show c.3262+38831_3262+38864delATATATATATATATATATATATAT ATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79740710	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0021 a0001c0004t0006g0021	1	24	0.0417	-34	c.401 others(55): Show c.4014+42775_4014+42808delTTATATATATATATATATATATAT ATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD2_chr4_1866393_1987192	1951443	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03579.hp2 NA18967.hp2 HG03516.hp1 HG03579.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0022 a0001c0001t0001g0109 a0001c0001t0003g0030 a0001c0001t0001g0022 a0001c0001t0001g0109 a0001c0001t0003g0030	3	130	0.0231	-34	c.201 others(51): Show c.2013+288_2013+321delCACACACACACACACACACACACACACA CACACA	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSDHL_chrX_152826063_152874729	152872645	TGTGTTTG others(27): Show TGTGTTTGTGGGTGTGCGGGTGTGTGTGTGGGTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02886.hp1 HG03195.hp1 others(2): Show HG02280.hp2 HG02886.hp1 HG03195.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0041 a0001c0001t0002g0010 a0001c0001t0002g0041	5	324	0.0154	-34	c.35 others(45): Show c.3530_*3563delGTGTTTGTGGGTGTGCGGGTGTGTGTGTGGGTGG	NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding		2917		chrX	TogoVar
NSG1_chr4_4382102_4424058	4399488	ATATATAA others(27): Show ATATATAAGCCCTTGTAAGATATGCTTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(315): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(233): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0024 a0001c0001t0002g0136 a0001c0001t0002g0155 a0001c0001t0003g0012 a0001c0001t0003g0046 a0001c0001t0003g0288 a0001c0001t0004g0263 a0001c0001t0005g0137 a0001c0001t0005g0165 a0001c0001t0005g0209 a0001c0001t0006g0042 a0001c0001t0006g0047 a0001c0001t0006g0052 a0001c0001t0006g0068 a0001c0001t0006g0139 a0001c0001t0006g0148 a0001c0001t0007g0013 a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0163 a0001c0001t0008g0018 a0001c0001t0008g0149 a0001c0001t0010g0004 a0001c0001t0010g0080 a0001c0001t0010g0087 a0001c0001t0011g0135 a0001c0001t0013g0286 a0001c0001t0015g0250 a0001c0001t0016g0198 a0001c0001t0017g0106 a0001c0001t0018g0078 a0001c0001t0019g0048 a0001c0001t0021g0086 a0001c0001t0022g0116 a0001c0002t0001g0039 a0001c0004t0001g0029 a0002c0003t0001g0073	318	394	0.8071	-34	c.246 others(51): Show c.246+7898_246+7931delTATATAAGCCCTTGTAAGATATGCTTAT ATATAT	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	3/4			chr4	TogoVar
NSUN6_chr10_18540561_18656587	18559983	CGAATGGA others(27): Show CGAATGGAATAGAGAATGGAATGCAATGGAGAATG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	346	0.0029	-34	c.923 others(51): Show c.923-8046_923-8013delCATTCTCCATTGCATTCCATTCTCTATT CCATTC	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18567729	CCATTCTG others(27): Show CCATTCTGCATTTCATTCCATTCCTTTCTCCATTT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19005.hp1 NA19012.hp2 NA18977.hp1 NA19005.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0206 a0001c0001t0002g0228 a0001c0001t0002g0229	3	346	0.0087	-34	c.923 others(53): Show c.923-15792_923-15759delAAATGGAGAAAGGAATGGAATGAAAT GCAGAATG	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
NT5C1B_chr2_18557871_18594569	18571718	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00738.hp2 others(27): Show HG00099.hp2 HG00408.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01243.hp2 HG01358.hp2 HG01928.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02738.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp2 HG03209.hp1 HG03540.hp2 HG03710.hp1 HG03927.hp2 HG04228.hp2 NA18959.hp1 NA18964.hp2 NA18994.hp1 NA19003.hp1 NA19043.hp1 NA19076.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0045 a0001c0002t0003g0046 others(16): Show a0001c0002t0003g0004 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244	30	392	0.0765	-34	c.132 others(53): Show c.1329+4432_1329+4465delTATATATATATATATATATATATATA TATATATA	NT5C1B	ENSG00000185013.17	transcript	ENST00000304081.9	protein_coding	8/8			chr2	TogoVar
NT5DC1_chr6_116095853_116254497	116109858	AAACTACA others(27): Show AAACTACATTAACATTTCAACTAGTTCCTATAATG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0143 a0001c0001t0014g0143	1	300	0.0033	-34	c.258 others(49): Show c.258-969_258-936delGTTCCTATAATGAACTACATTAACATTTCA ACTA	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC4_chr2_112716020_112744095	112719904	TTTTCTTT others(27): Show TTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02922.hp1 NA20300.hp2 HG01243.hp2 HG02922.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0173 a0002c0002t0001g0186 a0002c0002t0001g0150 a0002c0002t0001g0173 a0002c0002t0001g0186	3	364	0.0082	-34	c.-11 others(45): Show c.-1175_-1142delTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1115		chr2	TogoVar
NTRK2_chr9_84664729_85032054	84797796	TAATAATA others(27): Show TAATAATATATATATTATATATTATATATACTATA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02293.hp1 HG01978.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0002 a0001c0001t0007 a0001c0004t0002	a0001c0001t0007g0086 a0001c0004t0002g0167 a0001c0001t0007g0086 a0001c0004t0002g0167	2	170	0.0118	-34	c.139 others(55): Show c.1396+45713_1396+45746delATAATATATATATTATATATTATA TATACTATAA	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK3_chr15_87854751_88261739	88212700	TCACACAC others(27): Show TCACACACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp1 HG02258.hp2 others(2): Show HG01346.hp1 HG01884.hp1 HG02258.hp2 HG02559.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0001t0015 a0001c0002t0005 others(1): Show a0001c0001t0005 a0001c0001t0015 a0001c0002t0005 a0001c0004t0070	a0001c0001t0005g0003 a0001c0001t0015g0103 a0001c0001t0015g0104 others(2): Show a0001c0001t0005g0003 a0001c0001t0015g0103 a0001c0001t0015g0104 a0001c0002t0005g0102 a0001c0004t0070g0070	5	134	0.0373	-34	c.249 others(53): Show c.249-28435_249-28402delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	3/19			chr15	TogoVar
NUBPL_chr14_31556404_31866224	31760189	GTCACTTT others(27): Show GTCACTTTGCAGCCAGGCTGGAGTGCAGTGGCACA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	268	0.0037	-34	c.514 others(53): Show c.514-27590_514-27557delTCACTTTGCAGCCAGGCTGGAGTGCA GTGGCACA	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10			chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288924	CACACACA others(27): Show CACACACACACACACACACACACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp1 HG02922.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0022 a0002c0002t0001g0023	2	360	0.0056	-34	c.-1+ others(49): Show c.-1+5983_-1+6016delCACACACACACACACACACACACACATATA TATA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDT2_chr9_34324569_34348699	34346359	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02818.hp2 HG02976.hp1 others(2): Show HG02559.hp2 HG02818.hp2 HG02976.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0061 a0001c0001t0001g0062 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063	5	436	0.0115	-34	c.29 others(45): Show c.2920_*2953delATATATATATATATATATATATATATATATATAT	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2661		chr9	TogoVar
NUDT2_chr9_34324569_34348699	34346386	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG01993.hp2 others(15): Show HG00438.hp2 HG00544.hp1 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02572.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03195.hp2 HG03239.hp1 HG04228.hp2 NA19057.hp1 NA19057.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0032 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0003g0201	18	436	0.0413	-34	c.29 others(45): Show c.2947_*2980delTATATATATATATATATATATATATATATATATG	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2688		chr9	TogoVar
NUDT3_chr6_34274679_34397669	34308119	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(89): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02717.hp1 HG02818.hp2 HG03017.hp2 HG03130.hp2 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18975.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(28): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0067 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0079 a0001c0001t0081 a0001c0001t0083	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(89): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0006g0034 a0001c0001t0006g0036 a0001c0001t0006g0041 a0001c0001t0006g0049 a0001c0001t0006g0073 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0009g0012 a0001c0001t0015g0042 a0001c0001t0015g0072 a0001c0001t0015g0079 a0001c0001t0017g0267 a0001c0001t0017g0268 a0001c0001t0018g0119 a0001c0001t0018g0128 a0001c0001t0028g0031 a0001c0001t0028g0046 a0001c0001t0029g0014 a0001c0001t0029g0015 a0001c0001t0030g0011 a0001c0001t0030g0045 a0001c0001t0034g0002 a0001c0001t0035g0055 a0001c0001t0036g0020 a0001c0001t0038g0129 a0001c0001t0039g0127 a0001c0001t0040g0126 a0001c0001t0041g0269 a0001c0001t0043g0120 a0001c0001t0061g0059 a0001c0001t0062g0068 a0001c0001t0064g0146 a0001c0001t0067g0063 a0001c0001t0070g0032 a0001c0001t0071g0035 a0001c0001t0072g0038 a0001c0001t0073g0057 a0001c0001t0074g0022 a0001c0001t0075g0026 a0001c0001t0079g0050 a0001c0001t0081g0039 a0001c0001t0083g0264	92	270	0.3407	-34	c.211 others(53): Show c.211-12468_211-12435delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUMA1_chr11_71997864_72085542	72040445	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	244	0.0041	-34	c.-32 others(51): Show c.-32-4504_-32-4471delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	NUMA1	ENSG00000137497.19	transcript	ENST00000393695.8	protein_coding	2/26			chr11	TogoVar
NUMB_chr14_73270216_73463546	73352455	CACATACA others(27): Show CACATACACACACACACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01169.hp1 HG01943.hp2 others(3): Show HG00609.hp2 HG01169.hp1 HG01943.hp2 HG02004.hp1 HG02015.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0065 a0001c0001t0003g0047 a0001c0001t0003g0049 others(3): Show a0001c0001t0001g0065 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0055 a0001c0001t0003g0255 a0001c0001t0010g0062	6	322	0.0186	-34	c.126 others(51): Show c.126+3137_126+3170delATATATATATATGTGTGTGTGTGTGTGT GTATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352457	CATACACA others(27): Show CATACACACACACACACACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	322	0.0031	-34	c.126 others(51): Show c.126+3135_126+3168delATATATATATATATGTGTGTGTGTGTGT GTGTAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352473	CACACATA others(27): Show CACACATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02257.hp1 HG02258.hp1 others(4): Show HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02602.hp1 HG03490.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(4): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0004t0001g0121 a0001c0004t0001g0122 a0001c0004t0001g0125	7	322	0.0217	-34	c.126 others(51): Show c.126+3119_126+3152delATATATATATATATATATATATATATAT ATGTGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352475	CACATATA others(27): Show CACATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	322	0.0031	-34	c.126 others(51): Show c.126+3117_126+3150delATATATATATATATATATATATATATAT ATATGT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229435461	CCTCTCTC others(27): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 NA19030.hp2 HG03579.hp2 NA19030.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0023 a0002c0005t0005g0025 a0002c0005t0005g0023 a0002c0005t0005g0025	2	276	0.0073	-34	c.64 others(45): Show c.6409_*6442delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		4797		chr1	TogoVar
NUP160_chr11_47773118_47853350	47850823	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0313 a0001c0001t0001g0120 a0001c0001t0001g0313	2	338	0.0059	-34	c.-25 others(45): Show c.-2539_-2506delATATATATATATATATATATATATATATATATAT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2474		chr11	TogoVar
NUP205_chr7_135552917_135653753	135567124	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0013 a0013	a0013c0036 a0013c0036	a0013c0036t0001 a0013c0036t0001	a0013c0036t0001g0123 a0013c0036t0001g0123	1	352	0.0028	-34	c.29- others(49): Show c.29-3979_29-3946delGTGTATATATATATATATATATATATATAT ATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210_chr3_13311235_13425322	13350191	CGTGTGTG others(27): Show CGTGTGTGTTCAGCAAAATAACACAGCCTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02135.hp2 HG02486.hp1 others(15): Show HG01243.hp2 HG02135.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02717.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp2 HG03831.hp1 HG03927.hp2 HG06807.hp1 NA19030.hp1	a0003 a0021 a0022 a0003 a0021 a0022	a0003c0005 a0003c0006 a0003c0019 others(2): Show a0003c0005 a0003c0006 a0003c0019 a0021c0018 a0022c0017	a0003c0005t0005 a0003c0006t0005 a0003c0006t0006 others(4): Show a0003c0005t0005 a0003c0006t0005 a0003c0006t0006 a0003c0006t0008 a0003c0019t0013 a0021c0018t0006 a0022c0017t0005	a0003c0005t0005g0031 a0003c0006t0005g0008 a0003c0006t0005g0044 others(15): Show a0003c0005t0005g0031 a0003c0006t0005g0008 a0003c0006t0005g0044 a0003c0006t0005g0046 a0003c0006t0005g0049 a0003c0006t0006g0051 a0003c0006t0006g0052 a0003c0006t0006g0053 a0003c0006t0006g0055 a0003c0006t0006g0056 a0003c0006t0006g0058 a0003c0006t0006g0059 a0003c0006t0008g0005 a0003c0006t0008g0006 a0003c0006t0008g0007 a0003c0019t0013g0164 a0021c0018t0006g0054 a0022c0017t0005g0057	18	326	0.0552	-34	c.283 others(53): Show c.2835+1654_2835+1687delACACACAGGCTGTGTTATTTTGCTGA ACACACAC	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	20/39			chr3	TogoVar
NUP54_chr4_76109664_76153397	76125282	AGAAACAA others(27): Show AGAAACAAAAAACAAAAAACAGAGTGAGACTCCAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01106.hp1 others(31): Show HG00423.hp1 HG00609.hp1 HG01106.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02129.hp2 HG02735.hp1 HG03834.hp1 NA18747.hp2 NA18957.hp1 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA19009.hp2 NA19011.hp1 NA19062.hp1 NA19081.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0003 a0004c0006t0003 a0002c0002t0003 a0004c0006t0003	a0002c0002t0003g0007 a0002c0002t0003g0011 a0002c0002t0003g0013 others(27): Show a0002c0002t0003g0007 a0002c0002t0003g0011 a0002c0002t0003g0013 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0037 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0055 a0002c0002t0003g0058 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0069 a0002c0002t0003g0072 a0002c0002t0003g0074 a0002c0002t0003g0077 a0002c0002t0003g0080 a0004c0006t0003g0031	34	370	0.0919	-34	c.105 others(51): Show c.1057-560_1057-527delATGGAGTCTCACTCTGTTTTTTGTTTTT TGTTTC	NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11			chr4	TogoVar
NUP85_chr17_75200679_75240758	75212228	GGTTTTTT others(27): Show GGTTTTTTTTTTTGTTGTTGTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01515.hp1 HG01256.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0141 a0001c0001t0001g0061 a0001c0001t0001g0141	2	276	0.0073	-34	c.361 others(49): Show c.361+167_361+200delGTTTTTTTTTTTGTTGTTGTTTTTTTTTTT TTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	4/18			chr17	TogoVar
NXF2B_chrX_102355395_102445008	102412560	AGAAGAAG others(27): Show AGAAGAAGGAAGAAGAGGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	54	0.0185	-34	c.-54 others(53): Show c.-54+25959_-54+25992delCTCTTCCTCTTCCTCTTCCTCTTCTT CCTTCTTC	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar
NXNL2_chr9_88530178_88549973	88535000	GATGTGGG others(27): Show GATGTGGGCGGGGCGCAGTGGGTGGAGAGTGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02622.hp1 HG02647.hp1 others(8): Show HG01192.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0046 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0014g0101	11	336	0.0327	-34	c.-43 others(43): Show c.-434_-401delATGTGGGCGGGGCGCAGTGGGTGGAGAGTGCGGA	NXNL2	ENSG00000130045.17	transcript	ENST00000375854.8	protein_coding		177		chr9	TogoVar
NXN_chr17_794310_984776	947521	CCAGGAGT others(27): Show CCAGGAGTTCGAGACCAGCCTGGCCAACAAGGTGA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	242	0.0041	-34	c.360 others(53): Show c.360+31764_360+31797delTCACCTTGTTGGCCAGGCTGGTCTCG AACTCCTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPE4_chr11_114565591_114600786	114576974	TTTATATA others(27): Show TTTATATATATATATATACATATATATATATAAAG	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	432	0.0023	-34	c.109 others(53): Show c.1099+3124_1099+3157delCTTTATATATATATATGTATATATAT ATATATAA	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	5/5			chr11	TogoVar
NXPE4_chr11_114565591_114600786	114576994	TATATATA others(27): Show TATATATATATAAAGTTATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	432	0.0023	-34	c.109 others(53): Show c.1099+3104_1099+3137delGTATATATATATATATATAACTTTAT ATATATAT	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	5/5			chr11	TogoVar
NXPE4_chr11_114565591_114600786	114577011	ATATATAT others(27): Show ATATATATATATATATACATATATATATATAAAGT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00621.hp1 others(74): Show HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02080.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03654.hp2 HG03710.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp2 NA18961.hp2 NA18973.hp1 NA18986.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19004.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0003c0004 a0003c0020 a0005c0006 a0010c0014	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 others(8): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0002c0002t0009 a0003c0003t0002 a0003c0003t0004 a0003c0003t0006 a0003c0004t0002 a0003c0020t0002 a0005c0006t0002 a0010c0014t0002	a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0106 others(49): Show a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0139 a0001c0001t0001g0178 a0001c0001t0001g0198 a0001c0001t0001g0203 a0002c0002t0001g0027 a0002c0002t0001g0057 a0002c0002t0001g0141 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0161 a0002c0002t0001g0168 a0002c0002t0001g0212 a0002c0002t0001g0221 a0002c0002t0007g0208 a0002c0002t0009g0228 a0003c0003t0002g0011 a0003c0003t0002g0034 a0003c0003t0002g0051 a0003c0003t0002g0053 a0003c0003t0002g0067 a0003c0003t0002g0073 a0003c0003t0002g0100 a0003c0003t0002g0175 a0003c0003t0002g0176 a0003c0003t0002g0205 a0003c0003t0002g0224 a0003c0003t0002g0226 a0003c0003t0002g0227 a0003c0003t0004g0094 a0003c0003t0006g0068 a0003c0003t0006g0080 a0003c0003t0006g0150 a0003c0004t0002g0007 a0003c0004t0002g0021 a0003c0004t0002g0040 a0003c0004t0002g0046 a0003c0004t0002g0050 a0003c0004t0002g0086 a0003c0004t0002g0137 a0003c0004t0002g0165 a0003c0004t0002g0171 a0003c0004t0002g0179 a0003c0004t0002g0193 a0003c0004t0002g0214 a0003c0020t0002g0085 a0005c0006t0002g0087 a0010c0014t0002g0072	77	432	0.1782	-34	c.109 others(53): Show c.1099+3087_1099+3120delACTTTATATATATATATGTATATATA TATATATA	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	5/5			chr11	TogoVar
NXPE4_chr11_114565591_114600786	114577024	TATACATA others(27): Show TATACATATATATATATAAAGTTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	432	0.0023	-34	c.109 others(53): Show c.1099+3074_1099+3107delGTATATATATATAACTTTATATATAT ATATGTAT	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	5/5			chr11	TogoVar
NXPE4_chr11_114565591_114600786	114599888	CAGATCCA others(27): Show CAGATCCAAACCATATCAGAATATAACCCATGGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	432	0.0023	-34	c.-43 others(45): Show c.-4341_-4308delTTCCATGGGTTATATTCTGATATGGTTTGGATCT	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding		4103		chr11	TogoVar
NXPE4_chr11_114565591_114600786	114600270	GGTTGGCA others(27): Show GGTTGGCAATAATCTGCCAGCCTTTTCTATAATTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	432	0.0023	-34	c.-47 others(45): Show c.-4723_-4690delGAATTATAGAAAAGGCTGGCAGATTATTGCCAAC	NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding		4485		chr11	TogoVar
NXPH1_chr7_8428609_8757961	8655396	GTCTTTCT others(27): Show GTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18960.hp1 HG00621.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0092 a0001c0001t0001g0037 a0001c0001t0001g0092	2	208	0.0096	-34	c.55- others(51): Show c.55-95608_55-95575delTTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8655425	TCTCTCTC others(27): Show TCTCTCTCTCTCTCTCTCTCTCTCTATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0194 a0001c0001t0006g0194	1	208	0.0048	-34	c.55- others(51): Show c.55-95582_55-95549delCTCTCTCTCTCTCTCTCTCTCTCTATAC ACACAC	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2			chr7	TogoVar
OBSCN_chr1_228203044_228383876	228331407	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0049 a0049	a0049c0189 a0049c0189	a0049c0189t0002 a0049c0189t0002	a0049c0189t0002g0106 a0049c0189t0002g0106	1	320	0.0031	-34	c.185 others(55): Show c.18524-1437_18524-1404delTATATATATATATATATATATATA TATATATATA	OBSCN	ENSG00000154358.23	transcript	ENST00000680850.1	protein_coding	67/115		INFO_REALIGN_3_PRIME	chr1	TogoVar
ODAD3_chr19_11415605_11440121	11424597	ATATATAT others(27): Show ATATATATGTGTATATATACCTATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG06807.hp1 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0218 a0001c0001t0001g0175 a0001c0001t0001g0218	2	398	0.0050	-34	c.964 others(49): Show c.964-602_964-569delCATATATACACATAGGTATATATACACATA TATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODAD3_chr19_11415605_11440121	11424923	CTATGTGT others(27): Show CTATGTGTATATATGTATATATGTGTATATGTACA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	398	0.0025	-34	c.964 others(49): Show c.964-928_964-895delTGTACATATACACATATATACATATATACA CATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODAD3_chr19_11415605_11440121	11425051	ATGTGTAT others(27): Show ATGTGTATATGTGTATATATGTATATGTGTATATG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0071 a0005c0006t0001g0071	1	398	0.0025	-34	c.964 others(51): Show c.964-1056_964-1023delCATATACACATATACATATATACACATA TACACA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODC1_chr2_10434968_10453327	10441351	AAATACAC others(27): Show AAATACACTCATCAGTCTTTTCTAAAACTTTTCTT	A A	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	438	0.0023	-34	c.124 others(51): Show c.1241+124_1241+157delAAGAAAAGTTTTAGAAAAGACTGATGAG TGTATT	ODC1	ENSG00000115758.14	transcript	ENST00000234111.9	protein_coding	11/11			chr2	TogoVar
OGFOD2_chr12_122970244_122985042	122981407	ATGTGAGG others(27): Show ATGTGAGGGCCAGGCGCCGCAGGAGCCAGGAAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02965.hp1 others(2): Show HG02451.hp2 HG02615.hp1 HG02965.hp1 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0003 a0001c0001t0001g0026	5	366	0.0137	-34	c.20 others(45): Show c.2062_*2095delTGTGAGGGCCAGGCGCCGCAGGAGCCAGGAAGGG	OGFOD2	ENSG00000111325.16	transcript	ENST00000228922.12	protein_coding		1366		chr12	TogoVar
OGFR_chr20_62799835_62819000	62806461	ACCTGGGA others(27): Show ACCTGGGAGGTGGAGGTTGCAGTGAGTGGAGATTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0065 a0004c0005t0001g0065	1	422	0.0024	-34	c.172 others(50): Show c.172-1027_172-994delGTTGCAGTGAGTGGAGATTGCCTGGGAGG TGGAG	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
OLA1_chr2_174067447_174253532	174163707	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0039 a0002c0002t0008g0040 a0002c0002t0008g0039 a0002c0002t0008g0040	2	262	0.0076	-34	c.374 others(53): Show c.374-21741_374-21708delATATATATATATATATATATATATAT ATATTTAT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10			chr2	TogoVar
OLA1_chr2_174067447_174253532	174163743	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0088 a0002c0002t0017g0088	1	262	0.0038	-34	c.374 others(53): Show c.374-21777_374-21744delTTATATATATATATATATATATATAT ATATATAT	OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10			chr2	TogoVar

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Search Results (Total: 3456 hits)