Joint Open Genome and Omics Platform (JoGo)

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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
NUMB_chr14_73270216_73463546	73396321	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03195.hp1 HG02486.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0010 a0001c0001t0001g0012	2	322	0.0062	-18	c.-10 others(39): Show c.-101+13598_-101+13615delACACACACACACACACAC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	2/12			chr14	TogoVar
NUP133_chr1_229435259_229513341	229435458	GTCCCTCT others(11): Show GTCCCTCTCTCTCTCTCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02717.hp2 HG03098.hp2 others(1): Show HG02280.hp1 HG02717.hp2 HG03098.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0004 a0001c0001t0004 a0003c0003t0004	a0001c0001t0004g0149 a0003c0003t0004g0117 a0003c0003t0004g0134 others(1): Show a0001c0001t0004g0149 a0003c0003t0004g0117 a0003c0003t0004g0134 a0003c0003t0004g0135	4	276	0.0145	-18	c.64 others(29): Show c.6428_*6445delGAGAGAGAGAGAGAGGGA	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		4800		chr1	TogoVar
NUP133_chr1_229435259_229513341	229435461	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	276	0.0036	-18	c.64 others(29): Show c.6425_*6442delAGAGAGAGAGAGAGAGAG	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding		4797		chr1	TogoVar
NUP160_chr11_47773118_47853350	47782303	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	338	0.0030	-18	c.401 others(35): Show c.4014+752_4014+769delATATATATATATATATAT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47806788	TATACACA others(11): Show TATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	338	0.0030	-18	c.234 others(35): Show c.2344+264_2344+281delGTGTGTGTGTGTGTGTAT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	19/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47806790	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02818.hp1 HG03098.hp1 others(4): Show HG02698.hp2 HG02818.hp1 HG03098.hp1 HG03225.hp1 HG03579.hp1 NA19058.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0135 a0001c0001t0001g0144 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0170 a0001c0001t0001g0233 a0001c0001t0001g0234	7	338	0.0207	-18	c.234 others(35): Show c.2344+262_2344+279delGTGTGTGTGTGTGTGTGT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	19/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47824036	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18970.hp1 NA21309.hp2 NA18968.hp1 NA18970.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0312 a0001c0001t0002g0188 a0001c0001t0002g0331 a0001c0001t0001g0312 a0001c0001t0002g0188 a0001c0001t0002g0331	3	338	0.0089	-18	c.100 others(37): Show c.1000-1890_1000-1873delGTATATATATATATATAT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	7/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47850823	CATATATA others(11): Show CATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02717.hp1 HG02723.hp2 others(1): Show HG02486.hp1 HG02717.hp1 HG02723.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0182 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0053 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185	4	338	0.0118	-18	c.-25 others(29): Show c.-2523_-2506delATATATATATATATATAT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2474		chr11	TogoVar
NUP205_chr7_135552917_135653753	135559840	CGCCACCA others(11): Show CGCCACCATGCTTGGCTAG	C C	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0176 a0001c0008t0001g0176	1	352	0.0028	-18	c.28+ others(33): Show c.28+1869_28+1886delGCCACCATGCTTGGCTAG	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NUP205_chr7_135552917_135653753	135567120	CTATGTGT others(11): Show CTATGTGTGTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG01993.hp1 others(23): Show HG00280.hp1 HG01192.hp1 HG01993.hp1 HG02040.hp2 HG02165.hp2 HG02615.hp1 HG02698.hp2 HG03654.hp1 HG03834.hp2 NA18944.hp1 NA18947.hp1 NA18960.hp2 NA18962.hp1 NA18973.hp2 NA18980.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19005.hp2 NA19011.hp2 NA19062.hp1 NA19064.hp2 NA19074.hp2 NA19086.hp2 NA19087.hp1	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0030 a0008c0028 a0011c0024	a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0008t0001 a0001c0030t0001 a0008c0028t0001 a0011c0024t0001	a0001c0002t0001g0173 a0001c0002t0001g0193 a0001c0002t0001g0194 others(23): Show a0001c0002t0001g0173 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0265 a0001c0003t0001g0288 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0316 a0001c0003t0001g0318 a0001c0003t0001g0320 a0001c0003t0001g0321 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0337 a0001c0003t0001g0339 a0001c0003t0001g0340 a0001c0003t0001g0341 a0001c0003t0001g0346 a0001c0004t0002g0322 a0001c0008t0001g0317 a0001c0030t0001g0166 a0008c0028t0001g0268 a0011c0024t0001g0319	26	352	0.0739	-18	c.29- others(33): Show c.29-3981_29-3964delGTGTGTATATATATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135567124	GTGTGTAT others(11): Show GTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01074.hp1 others(3): Show HG00597.hp2 HG00639.hp1 HG01074.hp1 HG02486.hp1 HG03225.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0067 a0001c0001t0001g0098 a0001c0001t0001g0109 others(3): Show a0001c0001t0001g0067 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0165 a0001c0003t0001g0128	6	352	0.0171	-18	c.29- others(33): Show c.29-3979_29-3962delGTGTATATATATATATAT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135570046	TATATATA others(11): Show TATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	352	0.0028	-18	c.29- others(33): Show c.29-1057_29-1040delTATATAGAGAGAGAGAGA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135570678	TATTAATT others(11): Show TATTAATTATATTAATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp2 others(68): Show HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02886.hp2 HG03139.hp2 NA18612.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18974.hp1 NA18978.hp2 NA18987.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19005.hp1 NA19012.hp1 NA19054.hp2 NA19057.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0023 others(3): Show a0001c0001 a0001c0003 a0001c0023 a0001c0025 a0001c0027 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0023t0001 a0001c0025t0001 a0001c0027t0001 a0005c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 others(68): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0003g0151 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0058 a0001c0023t0001g0089 a0001c0025t0001g0285 a0001c0027t0001g0052 a0005c0012t0001g0041 a0005c0012t0001g0068	71	352	0.2017	-18	c.29- others(31): Show c.29-396_29-379delAATATAATTAATTATATT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135629469	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0102 a0010c0018t0001g0102	1	352	0.0028	-18	c.493 others(35): Show c.4933-851_4933-834delCTCTCTCTCTCTCTCTCT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	34/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210L_chr1_153987690_154160073	154033520	GTATTCTT others(11): Show GTATTCTTGGCACCTTTGT	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	290	0.0035	-18	c.369 others(37): Show c.3697-3484_3697-3467delACAAAGGTGCCAAGAATA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	27/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154036314	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01517.hp1 HG03041.hp1 others(1): Show HG01346.hp2 HG01517.hp1 HG03041.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0003c0004t0001g0076 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0003c0004t0001g0076 a0003c0004t0001g0085	4	290	0.0138	-18	c.369 others(37): Show c.3697-6278_3697-6261delCACACACACACACACACA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	27/39			chr1	TogoVar
NUP210L_chr1_153987690_154160073	154055131	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02615.hp2 others(6): Show HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG03471.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0199 a0001c0001t0001g0209 others(6): Show a0001c0001t0001g0059 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289	9	290	0.0310	-18	c.324 others(35): Show c.3241-317_3241-300delAAGAAAGAAAGAAAGAAA	NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	23/39			chr1	TogoVar
NUP35_chr2_183119443_183166680	183148610	ATTCATGT others(11): Show ATTCATGTTCTTTGCCCAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01081.hp2 others(11): Show HG00099.hp2 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01256.hp1 HG01516.hp1 HG01517.hp1 HG01975.hp1 HG02300.hp1 HG03491.hp2 HG03492.hp1 HG03942.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0094 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0006g0023	14	402	0.0348	-18	c.398 others(35): Show c.398-2894_398-2877delATGTTCTTTGCCCACTTC	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP35_chr2_183119443_183166680	183152110	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02965.hp2 others(2): Show HG02257.hp1 HG02280.hp2 HG02965.hp2 HG03225.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0177 a0001c0002t0001g0019 a0001c0002t0001g0049 others(1): Show a0001c0001t0001g0177 a0001c0002t0001g0019 a0001c0002t0001g0049 a0001c0002t0001g0050	5	402	0.0124	-18	c.539 others(33): Show c.539+489_539+506delCACACACACACACACACA	NUP35	ENSG00000163002.13	transcript	ENST00000295119.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
NUP58_chr13_25296625_25347421	25304478	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19068.hp2 NA18942.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	2	350	0.0057	-18	c.107 others(35): Show c.107+2620_107+2637delATATATATATATATATAT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP62CL_chrX_107118427_107211433	107152135	GATATATA others(11): Show GATATATATATATTCAGAT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02074.hp1 NA18942.hp1 others(2): Show HG01361.hp1 HG02074.hp1 NA18942.hp1 NA18945.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0210 others(2): Show a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0250	5	280	0.0179	-18	c.530 others(35): Show c.530+1019_530+1036delATCTGAATATATATATAT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	7/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107184297	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0103	1	280	0.0036	-18	c.-48 others(35): Show c.-48+8714_-48+8731delCTTTCTTTCTTTCTTTCT	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	2/8			chrX	TogoVar
NUP85_chr17_75200679_75240758	75202792	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	276	0.0036	-18	c.-29 others(29): Show c.-2969_-2952delTTTTTTTTTTTTTTTTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding		2886		chr17	TogoVar
NUP85_chr17_75200679_75240758	75231665	TATGCGGG others(11): Show TATGCGGGTGCTCTTCAGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp2 HG01071.hp1 others(35): Show HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01358.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02155.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18967.hp2 NA19002.hp2 NA19064.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0004c0007t0001 a0001c0001t0001 a0001c0002t0001 a0004c0007t0001	a0001c0001t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 others(35): Show a0001c0001t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0004c0007t0001g0246	38	276	0.1377	-18	c.124 others(33): Show c.1244+38_1244+55delTCTTCAGCATGCGGGTGC	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
NUP93_chr16_56725129_56855286	56815881	CTGCTGCT others(11): Show CTGCTGCTGCTGCTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG01361.hp1 others(4): Show HG00323.hp2 HG00642.hp1 HG01361.hp1 HG01517.hp2 HG02300.hp2 HG03927.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0051 a0001c0002t0001g0070 others(3): Show a0001c0002t0001g0001 a0001c0002t0001g0051 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0106 a0001c0002t0001g0170	7	378	0.0185	-18	c.490 others(35): Show c.490-2751_490-2734delGCTGGTGCTGCTGCTGCT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3702311	ACACTCTC others(11): Show ACACTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	342	0.0029	-18	c.351 others(35): Show c.3512+134_3512+151delAGAGAGAGAGAGAGAGTG	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3702313	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02145.hp2 HG02165.hp1 others(14): Show HG02074.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02922.hp2 HG03017.hp1 HG03209.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 others(1): Show a0001c0001 a0001c0002 a0005c0010 a0005c0021	a0001c0001t0001 a0001c0002t0001 a0005c0010t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0005c0010t0001 a0005c0021t0001	a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0039 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0221 a0001c0002t0001g0022 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0212 a0005c0010t0001g0339 a0005c0021t0001g0259	17	342	0.0497	-18	c.351 others(35): Show c.3512+132_3512+149delAGAGAGAGAGAGAGAGAG	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	23/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3730097	TGGTGGCA others(11): Show TGGTGGCACGTGCCTGTAG	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0251 a0001c0024t0001g0251	1	342	0.0029	-18	c.173 others(37): Show c.1730+1276_1730+1293delCTACAGGCACGTGCCACC	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUS1_chr6_117670469_117715727	117686845	AGTGTGTA others(11): Show AGTGTGTATGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp1 HG02451.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0048 a0001c0002t0004g0048	2	430	0.0047	-18	c.416 others(35): Show c.416-6190_416-6173delATGTGTGTGTGTGTGTGT	NUS1	ENSG00000153989.8	transcript	ENST00000368494.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
NUSAP1_chr15_41327881_41386046	41367652	CTTGGGTA others(11): Show CTTGGGTATTATTAGACTT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	292	0.0034	-18	c.848 others(35): Show c.848+2064_848+2081delTTGGGTATTATTAGACTT	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding	7/10			chr15	TogoVar
NUTF2_chr16_67841933_67877567	67842893	ACAGCAGC others(11): Show ACAGCAGCAACAGCAGCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 NA18983.hp1 NA19009.hp2 HG01071.hp2 NA18983.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0081 a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0081	3	248	0.0121	-18	c.-41 others(29): Show c.-4121_-4104delCAGCAGCAACAGCAGCAG	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding		4039		chr16	TogoVar
NUTF2_chr16_67841933_67877567	67855174	GCCAGCAG others(11): Show GCCAGCAGTGTATGGATTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG01891.hp2 HG02896.hp1 HG02897.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0150 a0001c0001t0003g0026 a0001c0001t0003g0148 a0001c0001t0002g0150 a0001c0001t0003g0026 a0001c0001t0003g0148	4	248	0.0161	-18	c.-30 others(35): Show c.-30+8190_-30+8207delCCAGCAGTGTATGGATTA	NUTF2	ENSG00000102898.13	transcript	ENST00000219169.9	protein_coding	1/4			chr16	TogoVar
NUTM1_chr15_34338315_34362735	34351227	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG02970.hp2 others(5): Show HG02280.hp2 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03540.hp1 NA18522.hp1 NA20129.hp2 NA20300.hp1	a0008 a0013 a0008 a0013	a0008c0009 a0013c0013 a0008c0009 a0013c0013	a0008c0009t0002 a0013c0013t0001 a0008c0009t0002 a0013c0013t0001	a0008c0009t0002g0011 a0008c0009t0002g0052 a0008c0009t0002g0071 others(2): Show a0008c0009t0002g0011 a0008c0009t0002g0052 a0008c0009t0002g0071 a0013c0013t0001g0253 a0013c0013t0001g0259	8	454	0.0176	-18	c.938 others(33): Show c.938+415_938+432delAAAAAAAAAAAAAAAAAA	NUTM1	ENSG00000184507.17	transcript	ENST00000537011.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
NUTM2G_chr9_96923843_96944416	96930872	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0172 a0001c0016t0001g0173 a0001c0016t0001g0172 a0001c0016t0001g0173	2	374	0.0054	-18	c.17- others(31): Show c.17-827_17-810delTTTTTTTTTTTTTTTTTT	NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
NVL_chr1_224222345_224335172	224323738	GGTGGGGC others(11): Show GGTGGGGCTGCCTCCTCCT	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0252 a0001c0002t0002g0252	1	284	0.0035	-18	c.131 others(35): Show c.131+2635_131+2652delAGGAGGAGGCAGCCCCAC	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	2/22			chr1	TogoVar
NWD1_chr19_16714847_16822953	16787904	AATCATCA others(11): Show AATCATCATCATCATCATC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG03130.hp2 others(1): Show HG02647.hp1 HG02809.hp2 HG03130.hp2 NA20129.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0010 a0009c0010t0010	a0009c0010t0010g0131 a0009c0010t0010g0276 a0009c0010t0010g0278 others(1): Show a0009c0010t0010g0131 a0009c0010t0010g0276 a0009c0010t0010g0278 a0009c0010t0010g0284	4	300	0.0133	-18	c.273 others(37): Show c.2732-1054_2732-1037delCATCATCATCATCATCAT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16788232	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0002 a0002c0022t0002	a0002c0022t0002g0102 a0002c0022t0002g0102	1	300	0.0033	-18	c.273 others(35): Show c.2732-714_2732-697delTAATAATAATAATAATAA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463783	AAGAAGAA others(11): Show AAGAAGAAGAAGAAGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02040.hp1 HG02155.hp2 others(3): Show HG00642.hp1 HG02040.hp1 HG02155.hp2 HG03927.hp1 NA18612.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0096 a0001c0001t0001g0098	6	408	0.0147	-18	c.-29 others(29): Show c.-2932_-2915delCCTTCTTCTTCTTCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2858		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463789	AAGAAGAA others(11): Show AAGAAGAAGAAGGAGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02027.hp1 HG02074.hp1 others(5): Show HG01358.hp2 HG02027.hp1 HG02074.hp1 NA18975.hp1 NA19010.hp2 NA19068.hp2 NA19070.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0101 a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0101	8	408	0.0196	-18	c.-29 others(29): Show c.-2938_-2921delCCTTCTCCTTCTTCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2864		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463795	AAGAAGGA others(11): Show AAGAAGGAGAAGGAGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-18	c.-29 others(29): Show c.-2944_-2927delCCTTCTCCTTCTCCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2870		chr19	TogoVar
NXNL2_chr9_88530178_88549973	88548339	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	336	0.0030	-18	c.37 others(29): Show c.3793_*3810delAAAAAAAAAAAAAAAAAA	NXNL2	ENSG00000130045.17	transcript	ENST00000375854.8	protein_coding		3367		chr9	TogoVar
NXN_chr17_794310_984776	889731	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02015.hp1 HG02683.hp2 others(12): Show HG00621.hp2 HG02015.hp1 HG02683.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03486.hp2 NA18522.hp2 NA18948.hp1 NA18980.hp2 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 a0001c0002t0004 a0001c0003t0001 a0001c0011t0004	a0001c0001t0001g0049 a0001c0001t0001g0116 a0001c0001t0001g0154 others(12): Show a0001c0001t0001g0049 a0001c0001t0001g0116 a0001c0001t0001g0154 a0001c0001t0001g0216 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0003g0044 a0001c0001t0003g0097 a0001c0001t0004g0224 a0001c0001t0025g0200 a0001c0002t0004g0043 a0001c0003t0001g0223 a0001c0011t0004g0234	15	242	0.0620	-18	c.361 others(37): Show c.361-63671_361-63654delTTCTTTCTTTCTTTCTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	889735	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	242	0.0041	-18	c.361 others(37): Show c.361-63675_361-63658delTTCTTTCTTTCTTTCTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	889743	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 NA18612.hp1 HG00323.hp2 HG01243.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0222 a0001c0001t0002g0105 a0001c0001t0002g0136 a0001c0001t0001g0222 a0001c0001t0002g0105 a0001c0001t0002g0136	3	242	0.0124	-18	c.361 others(37): Show c.361-63683_361-63666delTTCTTTCTTTCTTTCTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	894994	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	242	0.0041	-18	c.361 others(37): Show c.361-68934_361-68917delAAAAAAAAAAAAAAAAAA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	945890	GGCCAGCA others(11): Show GGCCAGCAAACCACAGGCT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00609.hp2 others(58): Show HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01167.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02698.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18971.hp2 NA18972.hp1 NA18984.hp2 NA18995.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19088.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026 a0001c0001t0029 a0001c0002t0004 a0001c0004t0001 a0001c0004t0002 a0001c0006t0005	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0034 others(58): Show a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0090 a0001c0001t0001g0138 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0053 a0001c0001t0002g0088 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0188 a0001c0001t0002g0194 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0215 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0078 a0001c0001t0003g0084 a0001c0001t0003g0117 a0001c0001t0003g0165 a0001c0001t0003g0193 a0001c0001t0003g0208 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0096 a0001c0001t0004g0155 a0001c0001t0005g0032 a0001c0001t0005g0048 a0001c0001t0006g0168 a0001c0001t0007g0023 a0001c0001t0012g0066 a0001c0001t0016g0001 a0001c0001t0018g0005 a0001c0001t0026g0173 a0001c0001t0029g0134 a0001c0002t0004g0043 a0001c0002t0004g0158 a0001c0004t0001g0235 a0001c0004t0002g0232 a0001c0006t0005g0080	61	242	0.2521	-18	c.360 others(37): Show c.360+33411_360+33428delAGCCTGTGGTTTGCTGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948858	CCCCGCGG others(11): Show CCCCGCGGCCTCCTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02258.hp2 HG04199.hp2 HG01433.hp1 HG02258.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0007 a0001c0001t0005g0161 a0001c0001t0017g0002 a0001c0001t0005g0007 a0001c0001t0005g0161 a0001c0001t0017g0002	3	242	0.0124	-18	c.360 others(37): Show c.360+30443_360+30460delAGAGGAGGAGGCCGCGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXPE1_chr11_114513934_114564881	114540837	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19066.hp1 NA19005.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0001 a0001c0001t0002 a0002c0006t0001	a0001c0001t0002g0112 a0002c0006t0001g0211 a0001c0001t0002g0112 a0002c0006t0001g0211	2	360	0.0056	-18	c.100 others(35): Show c.100-9947_100-9930delAAAAAAAAAAAAAAAAAA	NXPE1	ENSG00000095110.9	transcript	ENST00000534921.3	protein_coding	5/8			chr11	TogoVar
NXPE1_chr11_114513934_114564881	114557634	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(133): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18977.hp1 NA18980.hp2 NA18986.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0009 a0012 a0013 a0015	a0001c0001 a0002c0021 a0003c0007 others(6): Show a0001c0001 a0002c0021 a0003c0007 a0005c0005 a0006c0008 a0009c0011 a0012c0019 a0013c0022 a0015c0012	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(16): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0002c0021t0004 a0003c0007t0015 a0003c0007t0027 a0005c0005t0002 a0006c0008t0002 a0009c0011t0004 a0012c0019t0004 a0013c0022t0004 a0015c0012t0004	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(94): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0052 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0143 a0001c0001t0004g0008 a0001c0001t0004g0014 a0001c0001t0004g0016 a0001c0001t0004g0036 a0001c0001t0004g0067 a0001c0001t0004g0069 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0123 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0128 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0009g0078 a0001c0001t0011g0105 a0001c0001t0011g0109 a0001c0001t0013g0070 a0001c0001t0013g0071 a0001c0001t0018g0086 a0001c0001t0018g0127 a0001c0001t0029g0115 a0001c0001t0030g0111 a0001c0001t0031g0110 a0001c0001t0033g0108 a0002c0021t0004g0137 a0003c0007t0015g0265 a0003c0007t0015g0266 a0003c0007t0027g0146 a0005c0005t0002g0017 a0005c0005t0002g0037 a0006c0008t0002g0081 a0006c0008t0002g0102 a0006c0008t0002g0103 a0009c0011t0004g0122 a0009c0011t0004g0124 a0012c0019t0004g0136 a0013c0022t0004g0080 a0015c0012t0004g0068	136	360	0.3778	-18	c.-21 others(37): Show c.-211+2146_-211+2163delATATATATATATATATAT	NXPE1	ENSG00000095110.9	transcript	ENST00000534921.3	protein_coding	1/8			chr11	TogoVar
NXPE3_chr3_101774211_101833231	101818751	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0129 a0001c0001t0060g0129	1	380	0.0026	-18	c.112 others(37): Show c.1129+1752_1129+1769delATTTTTTTTTTTTTTTTT	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar

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