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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NUB1_chr7_151336812_151383449	151380829	TCATGCCA others(8): Show TCATGCCAGAAAATGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02258.hp2 others(18): Show HG02055.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0003t0003 a0001c0005t0001	a0001c0001t0001g0367 a0001c0001t0003g0201 a0001c0001t0003g0258 others(14): Show a0001c0001t0001g0367 a0001c0001t0003g0201 a0001c0001t0003g0258 a0001c0001t0003g0264 a0001c0001t0003g0273 a0001c0001t0003g0315 a0001c0001t0006g0008 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0289 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0008g0200 a0001c0001t0008g0202 a0001c0003t0003g0339 a0001c0005t0001g0183 a0001c0005t0001g0275	21	418	0.0502	-15	c.36 others(26): Show c.3605_*3619delCATGCCAGAAAATGA		NUB1	ENSG00000013374.17	transcript	ENST00000568733.6	protein_coding					2381		chr7	TogoVar
NUBPL_chr14_31556404_31866224	31662284	TTTTATTT others(8): Show TTTTATTTTATTTTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(91): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02735.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18956.hp2 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0003c0007t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 others(91): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0002g0225 a0001c0001t0003g0008 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0004g0106 a0001c0001t0004g0125 a0001c0001t0004g0129 a0001c0001t0004g0131 a0001c0001t0004g0155 a0001c0001t0004g0159 a0001c0001t0004g0166 a0001c0001t0004g0181 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0197 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0005g0230 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0165 a0001c0001t0007g0231 a0001c0001t0007g0232 a0001c0001t0007g0233 a0001c0001t0007g0264 a0001c0001t0008g0201 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0116 a0001c0001t0009g0193 a0001c0001t0009g0262 a0001c0001t0016g0187 a0001c0001t0016g0188 a0001c0001t0017g0185 a0001c0001t0018g0162 a0001c0001t0026g0007 a0003c0007t0001g0135	94	268	0.3508	-15	c.383 others(34): Show c.383-11056_383-11042delCTTTATTTTATTTTA		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31666242	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG03516.hp2 HG02055.hp2 HG02717.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0013g0268 a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0013g0268	3	268	0.0112	-15	c.383 others(32): Show c.383-7112_383-7098delATATATATATATATA		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	4/10						chr14	TogoVar
NUDC_chr1_26916743_26951871	26936159	ATATATAT others(8): Show ATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	254	0.0039	-15	c.160 others(32): Show c.160-5296_160-5282delATATATTTTTTTTTT		NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDT14_chr14_105167939_105186312	105176301	CAGCTGGG others(8): Show CAGCTGGGGGCCGCAG	C C	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	398	0.0025	-15	c.428 others(30): Show c.428+218_428+232delCTGCGGCCCCCAGCT		NUDT14	ENSG00000183828.15	transcript	ENST00000392568.7	protein_coding	4/4						chr14	TogoVar
NUDT18_chr8_22101878_22114419	22113648	AATTATTA others(8): Show AATTATTATTATTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA18522.hp1 HG04228.hp1 NA18522.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0004 a0006c0008t0004 a0002c0002t0004 a0006c0008t0004	a0002c0002t0004g0006 a0006c0008t0004g0031 a0002c0002t0004g0006 a0006c0008t0004g0031	2	400	0.0050	-15	c.-43 others(26): Show c.-4363_-4349delAATAATAATAATAAT		NUDT18	ENSG00000275074.2	transcript	ENST00000611621.2	protein_coding					4230		chr8	TogoVar
NUDT21_chr16_56424133_56456332	56445679	GATTCTGC others(8): Show GATTCTGCCTGCCTGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	414	0.0024	-15	c.381 others(30): Show c.381+932_381+946delACAGGCAGGCAGAAT		NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding	3/6						chr16	TogoVar
NUDT2_chr9_34324569_34348699	34346396	ATATATAT others(8): Show ATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	436	0.0023	-15	c.29 others(26): Show c.2957_*2971delTATATATATATATAT		NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding					2698		chr9	TogoVar
NUDT3_chr6_34274679_34397669	34304975	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp2 HG00733.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0131 a0001c0001t0027g0132 a0001c0001t0027g0131 a0001c0001t0027g0132	2	270	0.0074	-15	c.211 others(32): Show c.211-9305_211-9291delAAAAAAAAAAAAAAA		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4						chr6	TogoVar
NUDT3_chr6_34274679_34397669	34308119	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02809.hp2 HG01361.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0065 a0001c0001t0032 a0001c0001t0065	a0001c0001t0032g0101 a0001c0001t0065g0102 a0001c0001t0032g0101 a0001c0001t0065g0102	2	270	0.0074	-15	c.211 others(34): Show c.211-12449_211-12435delTTTTTTTTTTTTTTT		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4						chr6	TogoVar
NUDT3_chr6_34274679_34397669	34351198	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0063 a0001c0001t0067g0063	1	270	0.0037	-15	c.100 others(32): Show c.100-9241_100-9227delTTTTTTTTTTTTTTT		NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	1/4						chr6	TogoVar
NUDT4_chr12_93372925_93413146	93406275	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG03130.hp2 HG00639.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0084 a0001c0001t0083 a0001c0001t0084	a0001c0001t0083g0049 a0001c0001t0084g0202 a0001c0001t0083g0049 a0001c0001t0084g0202	2	414	0.0048	-15	c.69 others(26): Show c.6912_*6926delAAAAAAAAAAAAAAA		NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5				6912	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUDT7_chr16_77717514_77747260	77737003	AACCATAG others(8): Show AACCATAGGAAACTAG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	462	0.0022	-15	c.348 others(32): Show c.348+1050_348+1064delCATAGGAAACTAGAC		NUDT7	ENSG00000140876.11	transcript	ENST00000268533.9	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUDT7_chr16_77717514_77747260	77737036	CATAGGAA others(8): Show CATAGGAAACTAGACT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02723.hp1 others(2): Show HG02258.hp2 HG02622.hp2 HG02723.hp1 HG03516.hp2 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0002 a0005c0005t0008 a0001c0001t0001 a0005c0005t0002 a0005c0005t0008	a0001c0001t0001g0230 a0005c0005t0002g0153 a0005c0005t0002g0189 others(2): Show a0001c0001t0001g0230 a0005c0005t0002g0153 a0005c0005t0002g0189 a0005c0005t0002g0288 a0005c0005t0008g0278	5	462	0.0108	-15	c.348 others(32): Show c.348+1059_348+1073delCTAGACTATAGGAAA		NUDT7	ENSG00000140876.11	transcript	ENST00000268533.9	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUFIP1_chr13_44934249_44994471	44976427	GGAGGAGG others(8): Show GGAGGAGGAAGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	1	316	0.0032	-15	c.734 others(32): Show c.734+2748_734+2762delTTCCTCTTCCTCCTC		NUFIP1	ENSG00000083635.8	transcript	ENST00000379161.5	protein_coding	5/9						chr13	TogoVar
NUFIP2_chr17_29250839_29299148	29272075	AGAGGGGA others(8): Show AGAGGGGAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0032 a0002c0004t0012g0032	1	356	0.0028	-15	c.200 others(34): Show c.2003-4560_2003-4546delCCCTCCCCTCCCCTC		NUFIP2	ENSG00000108256.9	transcript	ENST00000225388.9	protein_coding	2/3						chr17	TogoVar
NUMBL_chr19_40660905_40695651	40667978	CTGCTGCT others(8): Show CTGCTGCTGCTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01346.hp2 HG01346.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0279 a0004c0012t0004g0279	1	414	0.0024	-15	c.130 others(24): Show c.1305_1319delACAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln436_Gln440del	NUMBL	ENSG00000105245.9	transcript	ENST00000252891.8	protein_coding	10/10	1487/3561	1305/1830	435/609			chr19	TogoVar
NUMB_chr14_73270216_73463546	73286209	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03195.hp1 HG03486.hp2 HG02486.hp2 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012	3	322	0.0093	-15	c.655 others(30): Show c.655+886_655+900delTAAAAAAAAAAAAAA		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	9/12						chr14	TogoVar
NUMB_chr14_73270216_73463546	73352509	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	322	0.0031	-15	c.126 others(32): Show c.126+3102_126+3116delTATATATATATATAT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12						chr14	TogoVar
NUMB_chr14_73270216_73463546	73352511	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	322	0.0062	-15	c.126 others(32): Show c.126+3100_126+3114delTATATATATATATAT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12						chr14	TogoVar
NUMB_chr14_73270216_73463546	73352513	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	322	0.0031	-15	c.126 others(32): Show c.126+3098_126+3112delTATATATATATATAT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12						chr14	TogoVar
NUMB_chr14_73270216_73463546	73352515	TATATATA others(8): Show TATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03579.hp2 NA19043.hp1 HG02922.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0019 a0001c0001t0001g0257 a0001c0002t0003g0244 a0001c0001t0001g0019 a0001c0001t0001g0257 a0001c0002t0003g0244	3	322	0.0093	-15	c.126 others(32): Show c.126+3096_126+3110delCATATATATATATAT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12						chr14	TogoVar
NUMB_chr14_73270216_73463546	73445354	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18972.hp2 HG01346.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0179 a0001c0001t0002g0087 a0001c0001t0002g0179	2	322	0.0062	-15	c.-23 others(36): Show c.-233+13124_-233+13138delTTTTTTTTTTTTTTT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12						chr14	TogoVar
NUP133_chr1_229435259_229513341	229502558	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	276	0.0036	-15	c.302 others(30): Show c.302-471_302-457delTTTTTTTTTTTTTTT		NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	2/25						chr1	TogoVar
NUP133_chr1_229435259_229513341	229505564	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp1 HG02040.hp2 others(4): Show HG01243.hp1 HG01516.hp1 HG02040.hp2 HG02622.hp2 HG02717.hp1 HG03516.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0108 a0003c0003t0004g0110 a0003c0003t0004g0111 others(4): Show a0003c0003t0004g0108 a0003c0003t0004g0110 a0003c0003t0004g0111 a0003c0003t0004g0112 a0003c0003t0004g0113 a0003c0003t0004g0114 a0003c0003t0004g0117	7	276	0.0254	-15	c.301 others(30): Show c.301+461_301+475delTTTTTTTTTTTTTTT		NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	2/25						chr1	TogoVar
NUP155_chr5_37283137_37376106	37297859	TTTATTTC others(8): Show TTTATTTCTGACTATG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01361.hp2 HG01517.hp2 others(22): Show HG01069.hp2 HG01361.hp2 HG01517.hp2 HG01891.hp1 HG01981.hp1 HG01993.hp1 HG02080.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02559.hp1 HG03209.hp1 HG03490.hp2 NA18906.hp1 NA18952.hp2 NA18953.hp1 NA19054.hp2 NA19065.hp1 NA19068.hp2 NA19077.hp2 NA19078.hp1 NA19082.hp2 NA21309.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0009	a0001c0001 a0003c0008 a0006c0013 others(2): Show a0001c0001 a0003c0008 a0006c0013 a0007c0016 a0009c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0030 a0003c0008t0001 a0006c0013t0001 a0007c0016t0001 a0009c0009t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0192 others(22): Show a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0003g0166 a0001c0001t0003g0245 a0001c0001t0021g0006 a0001c0001t0021g0007 a0001c0001t0030g0202 a0003c0008t0001g0295 a0003c0008t0001g0296 a0006c0013t0001g0251 a0007c0016t0001g0200 a0009c0009t0001g0248	25	300	0.0833	-15	c.379 others(33): Show c.3793+994_3793+1008delCATAGTCAGAAATAA		NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	32/34						chr5	TogoVar
NUP160_chr11_47773118_47853350	47782304	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02559.hp2 others(3): Show HG01884.hp1 HG02055.hp2 HG02559.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0229 others(3): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237	6	338	0.0178	-15	c.401 others(32): Show c.4014+754_4014+768delATATATATATATATA		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35						chr11	TogoVar
NUP160_chr11_47773118_47853350	47802462	ATAAGATG others(8): Show ATAAGATGATTGACAC	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	338	0.0030	-15	c.267 others(32): Show c.2674-547_2674-533delGTGTCAATCATCTTA		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	22/35						chr11	TogoVar
NUP188_chr9_128942699_129012096	128948711	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0287 a0001c0001t0004g0288	2	296	0.0068	-15	c.33- others(28): Show c.33-460_33-446delTTTTTTTTTTTTTTT		NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	1/43					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP188_chr9_128942699_129012096	128978556	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA19065.hp2 NA18987.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0029 a0001c0002 a0001c0029	a0001c0002t0001 a0001c0029t0001 a0001c0002t0001 a0001c0029t0001	a0001c0002t0001g0195 a0001c0029t0001g0185 a0001c0002t0001g0195 a0001c0029t0001g0185	2	296	0.0068	-15	c.120 others(32): Show c.1204-697_1204-683delAAAAAAAAAAAAAAA		NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	12/43					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135572941	GCTTTTTT others(8): Show GCTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0179 a0001c0003t0005g0179	1	352	0.0028	-15	c.172 others(30): Show c.172-702_172-688delTTTTTCTTTTTTTTT		NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	2/42					INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210L_chr1_153987690_154160073	154032950	GAAGAAAA others(8): Show GAAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02895.hp2 others(3): Show HG02257.hp2 HG02809.hp1 HG02895.hp2 HG03098.hp1 HG03471.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 others(3): Show a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0001g0155 a0002c0002t0001g0173	6	290	0.0207	-15	c.369 others(34): Show c.3697-2911_3697-2897delTTCTTTTCTTTTCTT		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	27/39						chr1	TogoVar
NUP210L_chr1_153987690_154160073	154065086	TAAATAAA others(8): Show TAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00673.hp1 others(69): Show HG00423.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01433.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG03098.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18984.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19070.hp2 NA19081.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0007 a0008 a0011 a0012 a0014	a0001c0001 a0002c0002 a0002c0013 others(6): Show a0001c0001 a0002c0002 a0002c0013 a0005c0007 a0007c0015 a0008c0016 a0011c0018 a0012c0019 a0014c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0013t0001 a0005c0007t0001 a0007c0015t0001 a0008c0016t0001 a0011c0018t0001 a0012c0019t0001 a0014c0010t0001	a0001c0001t0001g0111 a0002c0002t0001g0001 a0002c0002t0001g0065 others(69): Show a0001c0001t0001g0111 a0002c0002t0001g0001 a0002c0002t0001g0065 a0002c0002t0001g0070 a0002c0002t0001g0080 a0002c0002t0001g0084 a0002c0002t0001g0110 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0227 a0002c0002t0002g0126 a0002c0013t0001g0147 a0005c0007t0001g0157 a0005c0007t0001g0158 a0007c0015t0001g0163 a0008c0016t0001g0072 a0011c0018t0001g0280 a0012c0019t0001g0281 a0014c0010t0001g0146	72	290	0.2483	-15	c.255 others(34): Show c.2555-3427_2555-3413delTATTTTATTTTATTT		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	17/39						chr1	TogoVar
NUP210L_chr1_153987690_154160073	154091071	GTTATTAT others(8): Show GTTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19090.hp2 HG00673.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0187 a0002c0002t0001g0169 a0002c0002t0001g0187	2	290	0.0069	-15	c.218 others(34): Show c.2188-1492_2188-1478delTAATAATAATAATAA		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	15/39						chr1	TogoVar
NUP210L_chr1_153987690_154160073	154125752	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01517.hp1 HG02258.hp1 others(5): Show HG01346.hp2 HG01517.hp1 HG02258.hp1 HG02717.hp1 HG02818.hp1 HG03209.hp1 NA18522.hp2 NA19000.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0206 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0006c0009t0001g0267	8	290	0.0276	-15	c.132 others(32): Show c.1326+556_1326+570delAAAAAAAAAAAAAAA		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39						chr1	TogoVar
NUP210_chr3_13311235_13425322	13350437	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG03139.hp2 others(1): Show HG02615.hp2 HG02970.hp2 HG03139.hp2 NA19004.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0009 a0002c0002 a0009c0009	a0002c0002t0001 a0009c0009t0001 a0002c0002t0001 a0009c0009t0001	a0002c0002t0001g0277 a0009c0009t0001g0004 a0009c0009t0001g0194 a0002c0002t0001g0277 a0009c0009t0001g0004 a0009c0009t0001g0194	4	326	0.0123	-15	c.283 others(34): Show c.2835+1427_2835+1441delGTTTTGTTTTGTTTT		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	20/39						chr3	TogoVar
NUP210_chr3_13311235_13425322	13418524	GAGTTCTC others(8): Show GAGTTCTCCTTGGTCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00733.hp1 others(57): Show HG00140.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG03927.hp2 HG04204.hp2 HG06807.hp1 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0008 a0017 a0018 a0021	a0001c0001 a0002c0002 a0003c0005 others(10): Show a0001c0001 a0002c0002 a0003c0005 a0003c0006 a0003c0011 a0006c0007 a0006c0010 a0008c0027 a0008c0028 a0008c0030 a0017c0017 a0018c0020 a0021c0018	a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 others(13): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0004 a0003c0005t0005 a0003c0006t0005 a0003c0006t0006 a0003c0006t0008 a0003c0011t0001 a0006c0007t0001 a0006c0010t0001 a0008c0027t0003 a0008c0028t0003 a0008c0030t0005 a0017c0017t0005 a0018c0020t0001 a0021c0018t0006	a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 others(56): Show a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0002c0002t0001g0050 a0002c0002t0004g0038 a0003c0005t0005g0023 a0003c0005t0005g0024 a0003c0005t0005g0025 a0003c0005t0005g0026 a0003c0005t0005g0027 a0003c0005t0005g0028 a0003c0005t0005g0029 a0003c0005t0005g0030 a0003c0005t0005g0031 a0003c0005t0005g0032 a0003c0005t0005g0033 a0003c0005t0005g0037 a0003c0005t0005g0039 a0003c0005t0005g0060 a0003c0005t0005g0061 a0003c0006t0005g0008 a0003c0006t0005g0044 a0003c0006t0005g0046 a0003c0006t0005g0049 a0003c0006t0006g0051 a0003c0006t0006g0052 a0003c0006t0006g0053 a0003c0006t0006g0055 a0003c0006t0006g0056 a0003c0006t0006g0058 a0003c0006t0006g0059 a0003c0006t0008g0005 a0003c0006t0008g0006 a0003c0006t0008g0007 a0003c0011t0001g0035 a0003c0011t0001g0036 a0006c0007t0001g0002 a0006c0007t0001g0010 a0006c0007t0001g0011 a0006c0007t0001g0012 a0006c0007t0001g0013 a0006c0007t0001g0014 a0006c0007t0001g0015 a0006c0007t0001g0017 a0006c0007t0001g0018 a0006c0007t0001g0021 a0006c0007t0001g0022 a0006c0007t0001g0040 a0006c0010t0001g0016 a0006c0010t0001g0020 a0008c0027t0003g0019 a0008c0028t0003g0034 a0008c0030t0005g0009 a0017c0017t0005g0057 a0018c0020t0001g0193 a0021c0018t0006g0054	60	326	0.1841	-15	c.167 others(32): Show c.167+1521_167+1535delAGACCAAGGAGAACT		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding	1/39						chr3	TogoVar
NUP37_chr12_102068103_102125114	102079720	GATTTTAC others(8): Show GATTTTACACAGTAAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02257.hp2 HG03139.hp1 others(2): Show HG01167.hp1 HG02257.hp2 HG03139.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0080 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0046 a0001c0001t0001g0080 a0001c0001t0001g0081	5	398	0.0126	-15	c.541 others(32): Show c.541-2232_541-2218delTTTACTGTGTAAAAT		NUP37	ENSG00000075188.9	transcript	ENST00000552283.6	protein_coding	6/9						chr12	TogoVar
NUP37_chr12_102068103_102125114	102109800	AAGCATAG others(8): Show AAGCATAGAATACAAC	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18942.hp2 NA18963.hp1 others(2): Show NA18939.hp1 NA18942.hp2 NA18963.hp1 NA18990.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0001t0001g0161 a0001c0001t0001g0162	5	398	0.0126	-15	c.281 others(32): Show c.281+2293_281+2307delGTTGTATTCTATGCT		NUP37	ENSG00000075188.9	transcript	ENST00000552283.6	protein_coding	3/9						chr12	TogoVar
NUP37_chr12_102068103_102125114	102121545	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02145.hp2 others(6): Show HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02622.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0178 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181	9	398	0.0226	-15	c.-15 others(26): Show c.-1576_-1562delAAAAAAAAAAAAAAA		NUP37	ENSG00000075188.9	transcript	ENST00000552283.6	protein_coding					1432		chr12	TogoVar
NUP43_chr6_149719315_149751529	149732670	CCCCATCT others(8): Show CCCCATCTCTACCAAA	C C	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	328	0.0031	-15	c.791 others(30): Show c.791-950_791-936delTTTGGTAGAGATGGG		NUP43	ENSG00000120253.14	transcript	ENST00000340413.7	protein_coding	6/7						chr6	TogoVar
NUP54_chr4_76109664_76153397	76125630	GGGGGAGA others(8): Show GGGGGAGAGGGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	370	0.0027	-15	c.105 others(32): Show c.1057-889_1057-875delTCTCCCCCTCTCCCC		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11						chr4	TogoVar
NUP54_chr4_76109664_76153397	76125642	GAGAGGGG others(8): Show GAGAGGGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03831.hp2 HG03927.hp2 others(2): Show HG02647.hp2 HG03831.hp2 HG03927.hp2 NA18979.hp1 NA18986.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0002 a0002c0002t0003 a0005c0006t0003 a0001c0001t0002 a0002c0002t0003 a0005c0006t0003	a0001c0001t0002g0208 a0002c0002t0003g0033 a0002c0002t0003g0048 others(2): Show a0001c0001t0002g0208 a0002c0002t0003g0033 a0002c0002t0003g0048 a0002c0002t0003g0068 a0005c0006t0003g0031	5	370	0.0135	-15	c.105 others(32): Show c.1057-901_1057-887delTCCCTCTCCCCCTCT		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11						chr4	TogoVar
NUP54_chr4_76109664_76153397	76125646	GGGGGAGA others(8): Show GGGGGAGAGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	370	0.0027	-15	c.105 others(32): Show c.1057-905_1057-891delTCTCTCCCTCTCCCC		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11						chr4	TogoVar
NUP54_chr4_76109664_76153397	76125656	GAGAGAGG others(8): Show GAGAGAGGGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	370	0.0027	-15	c.105 others(32): Show c.1057-915_1057-901delTCTCTCCCCCTCTCT		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11						chr4	TogoVar
NUP54_chr4_76109664_76153397	76125678	GAGGGAGA others(8): Show GAGGGAGAGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	370	0.0027	-15	c.105 others(32): Show c.1057-937_1057-923delTCTCTCCCTCTCCCT		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11						chr4	TogoVar
NUP58_chr13_25296625_25347421	25304506	ATATATAT others(8): Show ATATATATATATGTAT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0208 a0001c0003t0004g0208	1	350	0.0029	-15	c.107 others(32): Show c.107+2628_107+2642delATATATATATGTATT		NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP62_chr19_49901825_49934504	49914726	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp2 HG00438.hp1 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	2	416	0.0048	-15	c.-77 others(32): Show c.-77-4857_-77-4843delAAAAAAAAAAAAAAA		NUP62	ENSG00000213024.13	transcript	ENST00000352066.8	protein_coding	2/2						chr19	TogoVar
NUP85_chr17_75200679_75240758	75202792	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02965.hp1 HG03139.hp2 HG02109.hp1 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0130 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0130	3	276	0.0109	-15	c.-29 others(26): Show c.-2969_-2955delTTTTTTTTTTTTTTT		NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding					2886		chr17	TogoVar
NUP85_chr17_75200679_75240758	75204013	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	276	0.0036	-15	c.-17 others(26): Show c.-1748_-1734delTTTTTTTTTTTTTTT		NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding					1665		chr17	TogoVar

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