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
NEURL1B_chr5_172636263_172696540	172663054	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02818.hp1 HG02280.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0046 a0001c0001t0033 a0001c0001t0046	a0001c0001t0033g0350 a0001c0001t0046g0349 a0001c0001t0033g0350 a0001c0001t0046g0349	2	392	0.0051	21	c.32- others(36): Show c.32-6718_32-6717insATAATAATAATAATAATAATA		NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172663829	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG02559.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0038 a0001c0001t0002 a0001c0007t0038	a0001c0001t0002g0023 a0001c0007t0038g0336 a0001c0001t0002g0023 a0001c0007t0038g0336	2	392	0.0051	21	c.32- others(36): Show c.32-5947_32-5927dupATTATTATTATTATTATTATT		NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172663829	T T	TTTTTTAT others(14): Show TTTTTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(71): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01975.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG04199.hp2 NA18522.hp2 NA18906.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18993.hp2 NA19000.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19067.hp2 NA19068.hp2 NA19083.hp2 NA19090.hp1 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0002c0003 a0003c0006 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0023 a0001c0001t0032 a0001c0001t0044 a0001c0002t0004 a0001c0004t0008 a0001c0012t0002 a0002c0003t0006 a0002c0003t0029 a0002c0003t0045 a0003c0006t0002 a0003c0009t0002	a0001c0001t0001g0028 a0001c0001t0001g0212 a0001c0001t0001g0281 others(61): Show a0001c0001t0001g0028 a0001c0001t0001g0212 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0001 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0124 a0001c0001t0002g0136 a0001c0001t0002g0145 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0202 a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0242 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0003g0132 a0001c0001t0003g0161 a0001c0001t0003g0188 a0001c0001t0003g0216 a0001c0001t0003g0250 a0001c0001t0004g0153 a0001c0001t0005g0027 a0001c0001t0005g0029 a0001c0001t0007g0005 a0001c0001t0007g0015 a0001c0001t0007g0210 a0001c0001t0007g0211 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0233 a0001c0001t0010g0134 a0001c0001t0010g0283 a0001c0001t0011g0001 a0001c0001t0011g0169 a0001c0001t0015g0024 a0001c0001t0015g0025 a0001c0001t0016g0297 a0001c0001t0020g0248 a0001c0001t0023g0005 a0001c0001t0032g0338 a0001c0001t0044g0156 a0001c0002t0004g0013 a0001c0002t0004g0088 a0001c0002t0004g0121 a0001c0002t0004g0146 a0001c0002t0004g0154 a0001c0002t0004g0159 a0001c0002t0004g0183 a0001c0002t0004g0189 a0001c0002t0004g0234 a0001c0004t0008g0176 a0001c0012t0002g0253 a0002c0003t0006g0139 a0002c0003t0029g0270 a0002c0003t0045g0268 a0003c0006t0002g0122 a0003c0009t0002g0259	74	392	0.1888	21	c.32- others(36): Show c.32-5954_32-5953insTTTATTATTATTATTATTATT		NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172663829	T T	TTTTTTTT others(14): Show TTTTTTTTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01993.hp1 HG02040.hp1 others(5): Show HG00099.hp1 HG01993.hp1 HG02040.hp1 HG02602.hp1 HG02602.hp2 HG03239.hp1 HG04115.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0037 a0001c0001t0043 a0001c0001t0049	a0001c0001t0001g0287 a0001c0001t0003g0148 a0001c0001t0003g0286 others(5): Show a0001c0001t0001g0287 a0001c0001t0003g0148 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0301 a0001c0001t0037g0269 a0001c0001t0043g0289 a0001c0001t0049g0296	8	392	0.0204	21	c.32- others(36): Show c.32-5954_32-5953insTTTTTTATTATTATTATTATT		NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172667275	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02818.hp2 NA20300.hp2 HG02698.hp1 HG02818.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0012 a0001c0004t0008 a0001c0004t0009 a0001c0001t0012 a0001c0004t0008 a0001c0004t0009	a0001c0001t0012g0300 a0001c0004t0008g0022 a0001c0004t0009g0204 a0001c0001t0012g0300 a0001c0004t0008g0022 a0001c0004t0009g0204	3	392	0.0077	21	c.32- others(36): Show c.32-2509_32-2489dupAAAAAAAAAAAAAAAAAAAAA		NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1_chr10_103488705_103597546	103501618	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG01243.hp1 others(33): Show HG00642.hp1 HG00673.hp2 HG01243.hp1 HG01261.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG02083.hp2 HG02132.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02602.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03492.hp1 HG03516.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 NA18906.hp2 NA18947.hp1 NA19005.hp2 NA19007.hp1 NA19076.hp1 NA19077.hp1 NA19082.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0017 a0001c0001t0029 a0001c0001t0030 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0018 a0001c0002t0021 a0001c0005t0002 a0002c0003t0001 a0003c0008t0002	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 others(32): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0014g0031 a0001c0001t0017g0056 a0001c0001t0029g0269 a0001c0001t0030g0079 a0001c0002t0003g0064 a0001c0002t0003g0158 a0001c0002t0004g0071 a0001c0002t0006g0202 a0001c0002t0006g0207 a0001c0002t0006g0208 a0001c0002t0007g0023 a0001c0002t0018g0021 a0001c0002t0021g0027 a0001c0005t0002g0022 a0001c0005t0002g0024 a0002c0003t0001g0003 a0002c0003t0001g0057 a0002c0003t0001g0091 a0002c0003t0001g0267 a0003c0008t0002g0076	36	312	0.1154	21	c.85+ others(36): Show c.85+7155_85+7175dupATTATTATTATTATTATTATT		NEURL1	ENSG00000107954.11	transcript	ENST00000369780.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr10	TogoVar
NEURL3_chr2_96492646_96510357	96504877	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18945.hp2 NA18961.hp2 others(1): Show HG00438.hp1 NA18945.hp2 NA18961.hp2 NA19063.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0003 a0011c0008 a0001c0001 a0002c0003 a0011c0008	a0001c0001t0001 a0002c0003t0001 a0011c0008t0001 a0001c0001t0001 a0002c0003t0001 a0011c0008t0001	a0001c0001t0001g0093 a0002c0003t0001g0034 a0011c0008t0001g0092 a0001c0001t0001g0093 a0002c0003t0001g0034 a0011c0008t0001g0092	4	394	0.0102	21	c.28+ others(34): Show c.28+361_28+381dupTTTTTTTTTTTTTTTTTTTTT		NEURL3	ENSG00000163121.10	transcript	ENST00000451794.6	protein_coding	1/3						chr2	TogoVar
NEUROD6_chr7_31332465_31345726	31334300	T T	TTCTTTCT others(14): Show TTCTTTCTTTCTTTCTTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	21	c.39 others(32): Show c.3954_*3955insGAGAGAAGAAAGAAAGAAAGA		NEUROD6	ENSG00000164600.7	transcript	ENST00000297142.4	protein_coding					3164		chr7	TogoVar
NEXMIF_chrX_74727856_74930452	74796209	T T	TTATATAT others(14): Show TTATATATATATACATATATAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	224	0.0045	21	c.-47 others(40): Show c.-47-50533_-47-50513dupTTATATATGTATATATATATA		NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3						chrX	TogoVar
NEXMIF_chrX_74727856_74930452	74796231	T T	TATATATA others(14): Show TATATATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01106.hp1 HG02698.hp1 others(1): Show HG00408.hp1 HG01106.hp1 HG02698.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0182 others(1): Show a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0182 a0001c0001t0021g0185	4	224	0.0179	21	c.-47 others(40): Show c.-47-50535_-47-50534insTATATATGTATATATATATAT		NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3						chrX	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0240 a0001c0001t0055g0240	1	380	0.0026	21	c.177 others(40): Show c.1775-2734_1775-2714dupAAAAAAAAAAAAAAAAAAAAA		NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC2_chr20_51381963_51547719	51395745	T T	TTTATATA others(14): Show TTTATATATAAAGAGGTGTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG03516.hp1 HG02486.hp2 HG02559.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0020 a0001c0005t0020 a0001c0001t0020 a0001c0005t0020	a0001c0001t0020g0070 a0001c0001t0020g0252 a0001c0005t0020g0150 a0001c0001t0020g0070 a0001c0001t0020g0252 a0001c0005t0020g0150	3	316	0.0095	21	c.44 others(38): Show c.44+2877_*44+2897dupGAAACACCTCTTTATATATAA		NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10						chr20	TogoVar
NFATC2_chr20_51381963_51547719	51399488	T T	TAAACTAG others(14): Show TAAACTAGGATGCTTTTTCAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0064 a0001c0001t0007g0064	1	316	0.0032	21	c.272 others(38): Show c.2723-779_2723-759dupTTTGAAAAAGCATCCTAGTTT		NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	9/10						chr20	TogoVar
NFATC2_chr20_51381963_51547719	51540647	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	316	0.0032	21	c.130 others(38): Show c.130+1722_130+1723insAAAAAAAAAAAAAAAAAAAAA		NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	1/10						chr20	TogoVar
NFATC3_chr16_68080370_68234259	68104653	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG06807.hp1 others(1): Show HG02622.hp2 HG02896.hp1 HG06807.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0003c0003t0011 a0001c0001t0008 a0003c0003t0011	a0001c0001t0008g0012 a0001c0001t0008g0016 a0001c0001t0008g0017 others(1): Show a0001c0001t0008g0012 a0001c0001t0008g0016 a0001c0001t0008g0017 a0003c0003t0011g0181	4	188	0.0213	21	c.104 others(40): Show c.104-17318_104-17317insTTTTTTTTTTTTTTTTTTTTT		NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC3_chr16_68080370_68234259	68167810	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0181 a0003c0003t0011g0181	1	188	0.0053	21	c.177 others(38): Show c.1774+814_1774+834dupTTTTTTTTTTTTTTTTTTTTT		NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NFE2_chr12_54287111_54306015	54297356	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	346	0.0029	21	c.-56 others(38): Show c.-56-2073_-56-2053dupTTTTTTTTTTTTTTTTTTTTT		NFE2	ENSG00000123405.14	transcript	ENST00000435572.7	protein_coding	1/2						chr12	TogoVar
NFIB_chr9_14076848_14319141	14080447	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0019 a0001c0001t0057g0019	1	304	0.0033	21	c.78 others(32): Show c.7861_*7862insAAAAAAAAAAAAAAAAAAAAA		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding					1400		chr9	TogoVar
NFIB_chr9_14076848_14319141	14144033	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	304	0.0033	21	c.925 others(38): Show c.925+2655_925+2656insCACACACACACACACACACAC		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	6/10						chr9	TogoVar
NFIB_chr9_14076848_14319141	14217660	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19011.hp1 HG02004.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0226 a0001c0001t0005g0187 a0001c0001t0001g0226 a0001c0001t0005g0187	2	304	0.0066	21	c.563 others(40): Show c.563-37901_563-37881dupTTTTTTTTTTTTTTTTTTTTT		NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10						chr9	TogoVar
NFIB_chr9_14076848_14319141	14307117	C C	CTTTCCAA others(14): Show CTTTCCAAGGGGATGCCTTTGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19086.hp1 NA19086.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0076 a0004c0006t0076	a0004c0006t0076g0184 a0004c0006t0076g0184	1	304	0.0033	21	c.413 others(28): Show c.413_433dupTCAAAGGCATCCCCTTGGAAA	p.Glu others(34): Show p.Glu144_Ser145insIleLysGlyIleProLeuGlu	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/11	1063/8576	433/1485	145/494			chr9	TogoVar
NFILZ_chr19_8625633_8686151	8653044	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0121 a0002c0002t0121	a0002c0002t0121g0155 a0002c0002t0121g0155	1	366	0.0027	21	c.-16 others(42): Show c.-164+17299_-164+17300insTTCTTTCTTTCTTTCTTTCTT		NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKB1_chr4_102496359_102622302	102539236	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	328	0.0031	21	c.258 others(38): Show c.258+1281_258+1301dupAAAAAAAAAAAAAAAAAAAAA		NFKB1	ENSG00000109320.14	transcript	ENST00000226574.9	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
NFKB1_chr4_102496359_102622302	102609158	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp2 NA18940.hp1 others(5): Show HG02055.hp1 HG02922.hp2 NA18940.hp1 NA18948.hp1 NA18980.hp2 NA18981.hp2 NA18990.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0235 a0001c0001t0001g0301 a0001c0001t0002g0207 others(5): Show a0001c0001t0001g0235 a0001c0001t0001g0301 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0261 a0001c0001t0005g0297	8	328	0.0244	21	c.222 others(40): Show c.2228-1405_2228-1404insAAAAAAAAAAAAAAAAAAAAA		NFKB1	ENSG00000109320.14	transcript	ENST00000226574.9	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
NFKBIA_chr14_35396513_35409749	35396582	C C	CCCCTATC others(14): Show CCCCTATCTCCCTTCGCTGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0054 a0001c0003t0012g0054	1	462	0.0022	21	c.54 others(32): Show c.5430_*5431insAGTCAGCGAAGGGAGATAGGG		NFKBIA	ENSG00000100906.12	transcript	ENST00000216797.10	protein_coding					4930		chr14	TogoVar
NFKBIA_chr14_35396513_35409749	35402235	A A	AGTAAGCT others(14): Show AGTAAGCTATTAAAAAAAGGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	462	0.0022	21	c.906 others(36): Show c.906+158_906+159insCCCCTTTTTTTAATAGCTTAC		NFKBIA	ENSG00000100906.12	transcript	ENST00000216797.10	protein_coding	5/5						chr14	TogoVar
NFKBIZ_chr3_101844514_101866022	101847031	A A	AAGAAGAT others(14): Show AAGAAGATAGCTTCAGGCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0003 a0008c0007t0003g0003	1	410	0.0024	21	c.-25 others(32): Show c.-2598_-2597insAGAAGATAGCTTCAGGCTTTT		NFKBIZ	ENSG00000144802.11	transcript	ENST00000326172.9	protein_coding					2482		chr3	TogoVar
NFU1_chr2_69391126_69442435	69404615	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02027.hp1 HG02083.hp2 others(4): Show HG01167.hp1 HG02027.hp1 HG02083.hp2 HG03195.hp1 NA18954.hp1 NA19003.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0063 a0001c0001t0001g0126 a0002c0002t0001g0326 a0002c0002t0001g0340	7	368	0.0190	21	c.545 others(38): Show c.545+1386_545+1406dupAAAAAAAAAAAAAAAAAAAAA		NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	6/7						chr2	TogoVar
NFYC_chr1_40686704_40776603	40704879	G G	GGCTAAGG others(14): Show GGCTAAGGAGTCCTTTATGGCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	332	0.0030	21	c.-9+ others(38): Show c.-9+13012_-9+13013insGCTAAGGAGTCCTTTATGGCT		NFYC	ENSG00000066136.21	transcript	ENST00000447388.8	protein_coding	1/9						chr1	TogoVar
NGB_chr14_77260483_77276206	77269725	T T	TCCCTCCC others(14): Show TCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	366	0.0027	21	c.90- others(34): Show c.90-400_90-399insGAGGGAGGGAGGGAGGGAGGG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGEF_chr2_232873701_233018256	232968093	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG02071.hp1 others(5): Show HG00597.hp1 HG00639.hp1 HG02071.hp1 HG02451.hp2 HG02630.hp1 HG03139.hp2 HG03492.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0004t0004 a0001c0005t0005	a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0002g0101 others(5): Show a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0002g0101 a0001c0001t0002g0150 a0001c0001t0005g0258 a0001c0001t0006g0277 a0001c0004t0004g0099 a0001c0005t0005g0287	8	362	0.0221	21	c.383 others(38): Show c.383+2120_383+2121insAAAAAAAAAAAAAAAAAAAAA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232969472	T T	TCCTTCCT others(14): Show TCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02083.hp2 HG02109.hp2 others(17): Show HG01106.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02257.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 NA18522.hp1 NA18943.hp1 NA18950.hp1 NA18962.hp1 NA18965.hp2 NA18971.hp1 NA18973.hp2 NA19000.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0009 a0001c0001t0025 others(10): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0025 a0001c0001t0029 a0001c0002t0009 a0001c0002t0011 a0001c0002t0016 a0001c0002t0021 a0001c0003t0005 a0001c0004t0004 a0001c0004t0017 a0001c0005t0001 a0001c0005t0018	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0057 others(17): Show a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0057 a0001c0001t0009g0040 a0001c0001t0025g0008 a0001c0001t0029g0128 a0001c0002t0009g0116 a0001c0002t0011g0122 a0001c0002t0016g0023 a0001c0002t0021g0009 a0001c0003t0005g0229 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0035 a0001c0004t0004g0039 a0001c0004t0004g0045 a0001c0004t0004g0080 a0001c0004t0017g0003 a0001c0005t0001g0026 a0001c0005t0018g0007	20	362	0.0553	21	c.383 others(36): Show c.383+741_383+742insGAAGGAAGGAAGGAAGGAAGG		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14						chr2	TogoVar
NGF_chr1_115280917_115343249	115304329	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	418	0.0024	21	c.-13 others(42): Show c.-136-10580_-136-10579insAAAAAAAAAAAAAAAAAAAAA		NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2						chr1	TogoVar
NGF_chr1_115280917_115343249	115329240	A A	AGTATGTA others(14): Show AGTATGTACTTCATACATCTAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	418	0.0024	21	c.-13 others(40): Show c.-137+8943_-137+8963dupATAGATGTATGAAGTACATAC		NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2						chr1	TogoVar
NGF_chr1_115280917_115343249	115337267	G G	GTTTGTTT others(14): Show GTTTGTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0162 a0001c0003t0001g0162	1	418	0.0024	21	c.-13 others(38): Show c.-137+936_-137+937insAAAAAAAAAAAAACAAACAAA		NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2						chr1	TogoVar
NGF_chr1_115280917_115343249	115337267	G G	GTTTGTTT others(14): Show GTTTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19072.hp2 NA19090.hp1 NA18961.hp2 NA19072.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147	3	418	0.0072	21	c.-13 others(38): Show c.-137+936_-137+937insAAAAAAAAAAAAAAAAACAAA		NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2						chr1	TogoVar
NHEJ1_chr2_219064357_219165815	219099741	C C	CGGCAGAA others(14): Show CGGCAGAAAAGACATGGGAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp2 NA19043.hp1 HG03130.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0131 a0001c0001t0013g0341 a0001c0001t0013g0342 a0001c0001t0013g0131 a0001c0001t0013g0341 a0001c0001t0013g0342	3	350	0.0086	21	c.589 others(40): Show c.589-21556_589-21536dupTTTTCCCATGTCTTTTCTGCC		NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	5/7						chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219117168	G G	GCAACTTT others(14): Show GCAACTTTACTGACTGCCTGCT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0169 a0001c0001t0021g0169	1	350	0.0029	21	c.588 others(40): Show c.588+29511_588+29512insAGCAGGCAGTCAGTAAAGTTG		NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	5/7						chr2	TogoVar
NHLRC4_chr16_562005_574495	571095	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTCTGCCTAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	21	c.26 others(32): Show c.2676_*2677insTGTGTGTGTGTCTGCCTAGCC		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1601		chr16	TogoVar
NHP2_chr5_178144463_178158885	178144720	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02257.hp2 HG02602.hp1 HG00408.hp2 HG02257.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0003 a0001c0001t0001g0017	3	418	0.0072	21	c.49 others(32): Show c.4992_*4993insTTTTTTTTTTTTTTTTTTTTT		NHP2	ENSG00000145912.10	transcript	ENST00000274606.8	protein_coding					4742		chr5	TogoVar
NHSL2_chrX_71905845_72158286	71951040	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	187	0.0054	21	c.280 others(40): Show c.280+39673_280+39674insCACACACACACACACACACAC		NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7						chrX	TogoVar
NHSL2_chrX_71905845_72158286	72048987	G G	GAGAAGAA others(14): Show GAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG01109.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0096 a0001c0001t0005g0091 a0001c0001t0005g0096	2	187	0.0107	21	c.281 others(40): Show c.281-83085_281-83065dupAGAAGAAGAAGAAGAAGAAGA		NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN1_chr1_184786032_184979508	184913137	G G	GTATATAT others(14): Show GTATATATATATATATATGATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0193 a0001c0002t0001g0194	2	256	0.0078	21	c.56- others(38): Show c.56-13829_56-13828insTATCATATATATATATATATA		NIBAN1	ENSG00000135842.17	transcript	ENST00000367511.4	protein_coding	1/13						chr1	TogoVar
NIBAN2_chr9_127500343_127574073	127509772	C C	CCCCTCCT others(14): Show CCCCTCCTCTCCTTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG04184.hp1 others(1): Show HG02257.hp2 HG02258.hp1 HG04184.hp1 HG04228.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0010 a0001c0001 a0001c0005 a0006c0010	a0001c0001t0001 a0001c0001t0008 a0001c0005t0005 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0005t0005 a0006c0010t0005	a0001c0001t0001g0221 a0001c0001t0008g0313 a0001c0005t0005g0078 others(1): Show a0001c0001t0001g0221 a0001c0001t0008g0313 a0001c0005t0005g0078 a0006c0010t0005g0097	4	332	0.0121	21	c.116 others(38): Show c.1161+353_1161+373dupAAGGAGGGAAGGAGAGGAGGG		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	9/13						chr9	TogoVar
NID1_chr1_235970830_236070090	236046550	G G	GGGTCAGG others(14): Show GGGTCAGGGAGAGGACGTCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0117 a0003c0004t0001g0117	1	334	0.0030	21	c.526 others(36): Show c.526-868_526-867insAGGGACGTCCTCTCCCTGACC		NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	2/19						chr1	TogoVar
NIM1K_chr5_43187225_43285850	43277693	C C	CATATGAC others(14): Show CATATGACATCTCACATTCTAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0161 a0003c0013t0001g0161	1	292	0.0034	21	c.561 others(36): Show c.561+371_561+391dupATGACATCTCACATTCTAAAT		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02040.hp2 HG03490.hp1 HG01496.hp2 HG02040.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0114	3	404	0.0074	21	c.33+ others(38): Show c.33+33431_33+33432insATATATTTTTTTTTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01516.hp2 NA19087.hp1 others(1): Show HG01433.hp2 HG01516.hp2 NA19087.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0063 a0001c0001t0001g0090 a0001c0001t0001g0180 a0001c0001t0001g0237	4	404	0.0099	21	c.33+ others(38): Show c.33+33431_33+33432insATATATATTTTTTTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01167.hp1 HG01169.hp1 HG00558.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0029 a0001c0001t0001g0222 a0001c0001t0001g0223	3	404	0.0074	21	c.33+ others(38): Show c.33+33431_33+33432insATATATATATTTTTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	404	0.0025	21	c.33+ others(38): Show c.33+33431_33+33432insATATATATATATTTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar

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