Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUDCD1_chr8_109235919_109339087	109337689	GTCAGGAG others(10): Show GTCAGGAGATTGAGACTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG06807.hp1 HG02615.hp2 HG02818.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0005 a0003c0003t0004 a0003c0003t0005	a0003c0003t0004g0326 a0003c0003t0005g0005 a0003c0003t0005g0025 a0003c0003t0004g0326 a0003c0003t0005g0005 a0003c0003t0005g0025	3	358	0.0084	-17	c.-36 others(28): Show c.-3696_-3680delTAGTCTCAATCTCCTGA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		3603		chr8	TogoVar
NUDCD3_chr7_44374119_44495658	44412926	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp1 HG02922.hp2 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0235 a0002c0005t0012g0236 a0002c0005t0012g0235 a0002c0005t0012g0236	2	212	0.0094	-17	c.643 others(34): Show c.643-8360_643-8344delCTTTTTTTTTTTTTTTT	NUDCD3	ENSG00000015676.18	transcript	ENST00000355451.8	protein_coding	3/5			chr7	TogoVar
NUDC_chr1_26916743_26951871	26936159	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	2	249	0.0080	-17	c.160 others(34): Show c.160-5296_160-5280delATATATTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDC_chr1_26916743_26951871	26936161	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03041.hp2 NA20805.hp2 HG00280.hp1 HG03041.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0004g0229	3	250	0.0120	-17	c.160 others(34): Show c.160-5294_160-5278delATATTTTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDC_chr1_26916743_26951871	26936163	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01516.hp2 HG03017.hp2 HG01070.hp1 HG01516.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0233 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0233	3	246	0.0122	-17	c.160 others(34): Show c.160-5292_160-5276delATTTTTTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDC_chr1_26916743_26951871	26936165	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	169	0.0059	-17	c.160 others(34): Show c.160-5267_160-5251delTTTTTTTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDT3_chr6_34274679_34397669	34302658	GGAGGCGG others(10): Show GGAGGCGGAGATTGCAGT	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA20905.hp1 NA18957.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0267 a0001c0001t0014g0268 a0001c0001t0014g0267 a0001c0001t0014g0268	2	268	0.0075	-17	c.211 others(34): Show c.211-6990_211-6974delACTGCAATCTCCGCCTC	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT3_chr6_34274679_34397669	34308119	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03098.hp1 HG02615.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0096 a0001c0001t0010g0105 a0001c0001t0004g0096 a0001c0001t0010g0105	2	3	0.6667	-17	c.211 others(36): Show c.211-12451_211-12435delTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUF2_chr1_163316954_163360759	163356617	AAATTTCA others(10): Show AAATTTCATGCATACTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	398	0.0025	-17	c.11 others(28): Show c.1149_*1165delAATTTCATGCATACTTT	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		859		chr1	TogoVar
NUF2_chr1_163316954_163360759	163357924	ATCTAGAC others(10): Show ATCTAGACTTTCTCACCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(259): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19064.hp2 NA19074.hp2 NA19075.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005 a0008c0011 a0009c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0002c0003t0001 a0002c0004t0001 a0003c0005t0001 a0008c0011t0001 a0009c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(145): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0004g0051 a0001c0001t0005g0067 a0001c0002t0001g0010 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0146 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0002c0003t0001g0006 a0002c0003t0001g0038 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0147 a0002c0004t0001g0023 a0002c0004t0001g0024 a0002c0004t0001g0025 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0136 a0002c0004t0001g0148 a0003c0005t0001g0149 a0003c0005t0001g0150 a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153 a0003c0005t0001g0154 a0003c0005t0001g0155 a0003c0005t0001g0168 a0008c0011t0001g0177 a0009c0010t0001g0010	262	398	0.6583	-17	c.24 others(28): Show c.2456_*2472delTCTAGACTTTCTCACCT	NUF2	ENSG00000143228.13	transcript	ENST00000271452.8	protein_coding		2166		chr1	TogoVar
NUMB_chr14_73270216_73463546	73352507	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	320	0.0031	-17	c.126 others(34): Show c.126+3102_126+3118delTATATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73352511	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	317	0.0032	-17	c.126 others(34): Show c.126+3098_126+3114delTATATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73445354	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG04204.hp2 NA18978.hp1 others(1): Show HG02109.hp2 HG04204.hp2 NA18978.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0298 a0001c0001t0002g0120 a0001c0001t0002g0151 others(1): Show a0001c0001t0001g0298 a0001c0001t0002g0120 a0001c0001t0002g0151 a0001c0001t0002g0163	4	19	0.2105	-17	c.-23 others(38): Show c.-233+13122_-233+13138delTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12			chr14	TogoVar
NUP153_chr6_17610037_17711925	17615672	CTCTAATC others(10): Show CTCTAATCTATACAGAAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp1 NA18966.hp1 NA18984.hp2 others(1): Show HG02165.hp1 NA18966.hp1 NA18984.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0020 a0002c0002t0005 a0002c0002t0020	a0002c0002t0005g0229 a0002c0002t0005g0237 a0002c0002t0005g0244 others(1): Show a0002c0002t0005g0229 a0002c0002t0005g0237 a0002c0002t0005g0244 a0002c0002t0020g0315	4	314	0.0127	-17	c.40 others(26): Show c.408_*424delATTCTGTATAGATTAGA	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	22/22	408		chr6	TogoVar
NUP153_chr6_17610037_17711925	17630702	CGGGAGAC others(10): Show CGGGAGACGAGAGGGGAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	314	0.0032	-17	c.266 others(36): Show c.2660-1180_2660-1164delCTCCCCTCTCGTCTCCC	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	17/21			chr6	TogoVar
NUP155_chr5_37283137_37376106	37318498	CATCTGAA others(10): Show CATCTGAAATGTCCCCAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00735.hp2 others(20): Show HG00099.hp1 HG00408.hp2 HG00735.hp2 HG01884.hp1 HG02145.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp1 HG02735.hp2 HG02970.hp2 HG03017.hp1 HG03453.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18954.hp1 NA18984.hp2 NA19000.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0019 a0001c0002t0022 others(8): Show a0001c0002t0007 a0001c0002t0019 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0053	a0001c0002t0007g0066 a0001c0002t0007g0078 a0001c0002t0007g0079 others(20): Show a0001c0002t0007g0066 a0001c0002t0007g0078 a0001c0002t0007g0079 a0001c0002t0007g0083 a0001c0002t0007g0084 a0001c0002t0007g0085 a0001c0002t0007g0086 a0001c0002t0007g0087 a0001c0002t0007g0088 a0001c0002t0019g0065 a0001c0002t0019g0082 a0001c0002t0019g0090 a0001c0002t0022g0031 a0001c0002t0023g0032 a0001c0002t0023g0033 a0001c0002t0024g0067 a0001c0002t0024g0080 a0001c0002t0044g0292 a0001c0002t0045g0092 a0001c0002t0046g0081 a0001c0002t0047g0089 a0001c0002t0048g0069 a0001c0002t0053g0077	23	298	0.0772	-17	c.220 others(34): Show c.2208-430_2208-414delTTGGGGACATTTCAGAT	NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	20/34			chr5	TogoVar
NUP160_chr11_47773118_47853350	47782304	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	266	0.0038	-17	c.401 others(34): Show c.4014+752_4014+768delATATATATATATATATA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47793722	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02896.hp1 HG02897.hp1 HG00639.hp1 HG02896.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0121 a0001c0001t0001g0312 a0002c0002t0001g0084 a0001c0001t0001g0121 a0001c0001t0001g0312 a0002c0002t0001g0084	3	7	0.4286	-17	c.318 others(34): Show c.3188-793_3188-777delAAAAAAAAAAAAAAAAA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	27/35			chr11	TogoVar
NUP210L_chr1_153987690_154160073	154125752	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02896.hp2 others(3): Show HG02257.hp1 HG02630.hp1 HG02896.hp2 HG03041.hp1 HG03486.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0026 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0026 a0003c0004t0001g0085 a0003c0004t0001g0086 a0003c0004t0001g0099	6	26	0.2308	-17	c.132 others(34): Show c.1326+554_1326+570delAAAAAAAAAAAAAAAAA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39			chr1	TogoVar
NUP210_chr3_13311235_13425322	13350462	CAAAACAA others(10): Show CAAAACAAAACAAAACAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0289 a0002c0002t0004g0289	1	324	0.0031	-17	c.283 others(36): Show c.2835+1400_2835+1416delTTGTTTTGTTTTGTTTT	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	20/39			chr3	TogoVar
NUP58_chr13_25296625_25347421	25304504	ATATATAT others(10): Show ATATATATATATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	347	0.0029	-17	c.107 others(34): Show c.107+2626_107+2642delATATATATATATGTATT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP62_chr19_49901825_49934504	49918899	GGGGGGGG others(10): Show GGGGGGGGGGCGGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03834.hp2 HG03239.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0240 a0001c0001t0007g0049 a0001c0001t0007g0240	2	414	0.0048	-17	c.-78 others(34): Show c.-78+8778_-78+8794delACACCCCGCCCCCCCCC	NUP62	ENSG00000213024.13	transcript	ENST00000352066.8	protein_coding	2/2			chr19	TogoVar
NUP85_chr17_75200679_75240758	75202792	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0031 a0006c0013t0001g0031	1	29	0.0345	-17	c.-29 others(28): Show c.-2969_-2953delTTTTTTTTTTTTTTTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding		2886		chr17	TogoVar
NUP85_chr17_75200679_75240758	75212247	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp1 HG03486.hp1 HG02886.hp2 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0189 a0001c0006t0001g0190 a0001c0006t0001g0191 a0001c0006t0001g0189 a0001c0006t0001g0190 a0001c0006t0001g0191	3	231	0.0130	-17	c.361 others(32): Show c.361+208_361+224delTTTTTTTTTTTTTTTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
NUP85_chr17_75200679_75240758	75220261	ACTACAGG others(10): Show ACTACAGGCGCGCGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00597.hp1 others(29): Show HG00140.hp1 HG00544.hp1 HG00597.hp1 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG02015.hp2 HG02129.hp1 HG02135.hp1 HG02698.hp2 HG03710.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp1 NA18982.hp1 NA18989.hp1 NA18990.hp2 NA19068.hp2 NA19090.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0002 a0001c0003t0002 a0001c0005t0002	a0001c0003t0002g0017 a0001c0003t0002g0173 a0001c0003t0002g0174 others(28): Show a0001c0003t0002g0017 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0186 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0005t0002g0167 a0001c0005t0002g0169 a0001c0005t0002g0170 a0001c0005t0002g0171 a0001c0005t0002g0172 a0001c0005t0002g0187 a0001c0005t0002g0207 a0001c0005t0002g0208	32	274	0.1168	-17	c.597 others(34): Show c.597+1957_597+1973delTACAGGCGCGCGTCACC	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
NUP98_chr11_3670019_3802554	3702324	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	334	0.0030	-17	c.351 others(34): Show c.3512+122_3512+138delAGAGAGAGAGAGAGAGA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3702326	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp1 HG03516.hp1 HG02970.hp2 HG03098.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0240 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0240	3	289	0.0104	-17	c.351 others(34): Show c.3512+120_3512+136delAGAGAGAGAGAGAGAGA	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729543	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	147	0.0068	-17	c.173 others(36): Show c.1730+1831_1730+1847delTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3780546	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG02559.hp1 others(4): Show HG00642.hp1 HG01433.hp2 HG02559.hp1 HG02622.hp1 HG02886.hp2 HG02965.hp2 HG02976.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0001c0001t0008 a0005c0010t0001 a0001c0001t0001 a0001c0001t0008 a0005c0010t0001	a0001c0001t0001g0068 a0001c0001t0001g0324 a0001c0001t0001g0335 others(4): Show a0001c0001t0001g0068 a0001c0001t0001g0324 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0008g0325 a0005c0010t0001g0338 a0005c0010t0001g0339	7	340	0.0206	-17	c.77- others(32): Show c.77-1306_77-1290delCTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	2/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28530579	TATTTCTT others(10): Show TATTTCTTTTTACAGTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00735.hp2 HG01074.hp2 others(34): Show HG00609.hp1 HG00735.hp2 HG01074.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01978.hp2 HG02004.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02293.hp1 HG03491.hp2 HG03492.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp1 NA18961.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18987.hp2 NA18991.hp2 NA18994.hp2 NA19005.hp2 NA19077.hp2 NA19080.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0022 a0001c0001t0064 others(3): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0064 a0001c0001t0077 a0002c0002t0022 a0002c0002t0083	a0001c0001t0003g0003 a0001c0001t0022g0027 a0001c0001t0064g0056 others(3): Show a0001c0001t0003g0003 a0001c0001t0022g0027 a0001c0001t0064g0056 a0001c0001t0077g0061 a0002c0002t0022g0038 a0002c0002t0083g0039	37	366	0.1011	-17	c.70 others(28): Show c.7087_*7103delTAACTGTAAAAAGAAAT	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding		2128		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56118394	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02717.hp2 HG02572.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0139 a0001c0002t0001g0061 a0001c0002t0001g0139	2	12	0.1667	-17	c.-20 others(28): Show c.-2097_-2081delAAAAAAAAAAAAAAAAA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding		1978		chr7	TogoVar
NUSAP1_chr15_41327881_41386046	41346826	CAAAAATA others(10): Show CAAAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02280.hp1 others(10): Show HG01884.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0171 a0002c0002t0001g0010 a0002c0002t0001g0237 others(9): Show a0001c0001t0001g0171 a0002c0002t0001g0010 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0276 a0002c0002t0001g0277	13	253	0.0514	-17	c.163 others(34): Show c.163-2271_163-2255delAAAAATAAATAAATAAA	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding	2/10			chr15	TogoVar
NUTM2G_chr9_96923843_96944416	96930872	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02451.hp2 HG00738.hp1 HG02451.hp2	a0003 a0014 a0003 a0014	a0003c0003 a0014c0035 a0003c0003 a0014c0035	a0003c0003t0001 a0014c0035t0001 a0003c0003t0001 a0014c0035t0001	a0003c0003t0001g0109 a0014c0035t0001g0149 a0003c0003t0001g0109 a0014c0035t0001g0149	2	47	0.0426	-17	c.17- others(30): Show c.17-826_17-810delTTTTTTTTTTTTTTTTT	NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
NVL_chr1_224222345_224335172	224331442	AACTCCCC others(10): Show AACTCCCCATTCCTCCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	282	0.0035	-17	c.-13 others(28): Show c.-1332_-1316delAGGGAGGAATGGGGAGT	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding		1271		chr1	TogoVar
NWD1_chr19_16714847_16822953	16777580	GGGAGGGG others(10): Show GGGAGGGGAGGGGAAAGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02280.hp2 others(13): Show HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0009 a0011 a0015 others(4): Show a0009 a0011 a0015 a0029 a0030 a0038 a0043	a0009c0010 a0011c0011 a0015c0025 others(4): Show a0009c0010 a0011c0011 a0015c0025 a0029c0065 a0030c0066 a0038c0052 a0043c0057	a0009c0010t0002 a0009c0010t0010 a0009c0010t0047 others(8): Show a0009c0010t0002 a0009c0010t0010 a0009c0010t0047 a0011c0011t0001 a0011c0011t0002 a0011c0011t0011 a0015c0025t0002 a0029c0065t0032 a0030c0066t0008 a0038c0052t0001 a0043c0057t0026	a0009c0010t0002g0114 a0009c0010t0010g0131 a0009c0010t0010g0274 others(13): Show a0009c0010t0002g0114 a0009c0010t0010g0131 a0009c0010t0010g0274 a0009c0010t0010g0276 a0009c0010t0010g0283 a0009c0010t0047g0005 a0011c0011t0001g0247 a0011c0011t0002g0022 a0011c0011t0011g0017 a0011c0011t0011g0024 a0015c0025t0002g0048 a0015c0025t0002g0049 a0029c0065t0032g0166 a0030c0066t0008g0264 a0038c0052t0001g0254 a0043c0057t0026g0202	16	298	0.0537	-17	c.260 others(36): Show c.2609-1746_2609-1730delTGGAGGGGAGGGGAAAG	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD2_chr4_37239743_37454463	37244959	GCCGCCTG others(10): Show GCCGCCTGCTGAGATCGA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0018 a0001c0019t0018	a0001c0019t0018g0293 a0001c0019t0018g0293	1	294	0.0034	-17	c.-96 others(24): Show c.-96_-80delATCGACCGCCTGCTGAG	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	1/7	80	INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37265904	CCATTATT others(10): Show CCATTATTTAGCTTACCA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA21309.hp1 NA21309.hp2 HG01496.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0017 a0001c0001 a0002c0017	a0001c0001t0001 a0002c0017t0006 a0001c0001t0001 a0002c0017t0006	a0001c0001t0001g0031 a0001c0001t0001g0240 a0002c0017t0006g0201 a0001c0001t0001g0031 a0001c0001t0001g0240 a0002c0017t0006g0201	3	294	0.0102	-17	c.151 others(36): Show c.151+20703_151+20719delACATTATTTAGCTTACC	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF2B_chrX_102355395_102445008	102412537	GAAGAAGA others(10): Show GAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	51	0.0196	-17	c.-54 others(36): Show c.-54+25999_-54+26015delTTCTTCTTCTTCTTCTT	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar
NXF2_chrX_102242167_102331722	102305885	CGGGAGGG others(10): Show CGGGAGGGTGGGGGGGTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01106.hp2 others(1): Show HG00280.hp2 HG00738.hp1 HG01106.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0030 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031	4	36	0.1111	-17	c.-53 others(34): Show c.-53-1126_-53-1110delGTGGGGAGGGTGGGGGG	NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
NXNL2_chr9_88530178_88549973	88548339	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp2 HG02129.hp1 others(8): Show HG02071.hp1 HG02071.hp2 HG02129.hp1 NA18944.hp2 NA18953.hp2 NA18957.hp1 NA18968.hp1 NA18990.hp1 NA19009.hp1 NA19063.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0004g0017 others(5): Show a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0004g0017 a0001c0001t0004g0075 a0001c0001t0004g0077 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0128	11	36	0.3056	-17	c.37 others(28): Show c.3793_*3809delAAAAAAAAAAAAAAAAA	NXNL2	ENSG00000130045.17	transcript	ENST00000375854.8	protein_coding		3367		chr9	TogoVar
NXN_chr17_794310_984776	894994	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(64): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18973.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19066.hp1 NA19088.hp1 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028 a0001c0001t0030 a0001c0005t0005	a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0046 others(64): Show a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0166 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0169 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0084 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0130 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0193 a0001c0001t0003g0208 a0001c0001t0004g0096 a0001c0001t0004g0129 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0006g0123 a0001c0001t0006g0168 a0001c0001t0008g0176 a0001c0001t0010g0003 a0001c0001t0014g0109 a0001c0001t0014g0113 a0001c0001t0016g0001 a0001c0001t0022g0150 a0001c0001t0028g0091 a0001c0001t0030g0237 a0001c0005t0005g0080	67	71	0.9437	-17	c.361 others(36): Show c.361-68933_361-68917delAAAAAAAAAAAAAAAAA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	909098	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(108): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18973.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0006t0001 a0001c0009t0006 a0003c0010t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0027 others(108): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0160 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0020 a0001c0001t0003g0025 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0057 a0001c0001t0003g0061 a0001c0001t0003g0084 a0001c0001t0003g0097 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0143 a0001c0001t0003g0157 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0193 a0001c0001t0003g0199 a0001c0001t0003g0208 a0001c0001t0003g0227 a0001c0001t0004g0016 a0001c0001t0004g0096 a0001c0001t0004g0129 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0005g0007 a0001c0001t0005g0031 a0001c0001t0005g0074 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0123 a0001c0001t0006g0155 a0001c0001t0006g0168 a0001c0001t0007g0040 a0001c0001t0008g0176 a0001c0001t0008g0192 a0001c0001t0010g0003 a0001c0001t0010g0006 a0001c0001t0011g0013 a0001c0001t0014g0109 a0001c0001t0014g0113 a0001c0001t0019g0004 a0001c0001t0020g0164 a0001c0001t0021g0019 a0001c0001t0022g0150 a0001c0001t0024g0011 a0001c0001t0025g0200 a0001c0001t0026g0173 a0001c0001t0027g0010 a0001c0001t0028g0091 a0001c0001t0029g0134 a0001c0001t0030g0237 a0001c0001t0032g0242 a0001c0001t0033g0241 a0001c0002t0001g0042 a0001c0002t0001g0223 a0001c0003t0001g0235 a0001c0003t0004g0234 a0001c0006t0001g0089 a0001c0009t0006g0159 a0003c0010t0001g0236	111	134	0.8284	-17	c.360 others(36): Show c.360+70204_360+70220delTTTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948859	CCCGCGGC others(10): Show CCCGCGGCCTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	240	0.0042	-17	c.360 others(36): Show c.360+30443_360+30459delAGAGGAGGAGGCCGCGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPE1_chr11_114513934_114564881	114540837	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0200 a0002c0002t0019g0200	1	56	0.0179	-17	c.100 others(34): Show c.100-9946_100-9930delAAAAAAAAAAAAAAAAA	NXPE1	ENSG00000095110.9	transcript	ENST00000534921.3	protein_coding	5/8			chr11	TogoVar
NXPE3_chr3_101774211_101833231	101831537	GGAACAAC others(10): Show GGAACAACGTTTTTAGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	378	0.0026	-17	c.95 others(28): Show c.9584_*9600delGAACAACGTTTTTAGTT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding		3307		chr3	TogoVar
NXPH1_chr7_8428609_8757961	8443707	AATGCAGA others(10): Show AATGCAGACGAATGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	208	0.0048	-17	c.54+ others(32): Show c.54+7947_54+7963delACGAATGGGGGATGCAG	NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
NYAP1_chr7_100478927_100499802	100492969	CAAGCAAG others(10): Show CAAGCAAGAAAGAAAAGA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0024 a0001c0002t0004g0024	1	364	0.0027	-17	c.226 others(34): Show c.2269-659_2269-643delAAGCAAGAAAGAAAAGA	NYAP1	ENSG00000166924.9	transcript	ENST00000300179.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
NYAP2_chr2_225394710_225708654	225538773	TTTTCTTT others(10): Show TTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0125 a0001c0014t0001g0125	1	145	0.0069	-17	c.523 others(36): Show c.523+25109_523+25125delTCTTTCTTTCTTTCTTT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225665807	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	44	0.0227	-17	c.193 others(38): Show c.1932+14286_1932+14302delAAAAAAAAAAAAAAAAA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225704812	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02135.hp1 HG01978.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0052 a0001c0002t0002g0130 a0001c0002t0001g0052 a0001c0002t0002g0130	2	17	0.1176	-17	c.62 others(28): Show c.6269_*6285delAAAAAAAAAAAAAAAAA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding		1159		chr2	TogoVar

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