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
EIF4ENIF1_chr22_31434367_31494842	31446285	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	366	0.0027	11	c.198 others(30): Show c.1988+1130_1988+1140dupTTTTTTTTTTT		EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	14/18						chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464675	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03579.hp1 HG02572.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0335 a0001c0003t0004g0323 a0001c0003t0001g0335 a0001c0003t0004g0323	2	366	0.0055	11	c.299 others(26): Show c.299-719_299-709dupTTTTTTTTTTT		EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18						chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(4): Show AAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0327 a0001c0003t0001g0327	1	366	0.0027	11	c.299 others(26): Show c.299-733_299-732insATATTTTTTTT		EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18						chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	366	0.0027	11	c.299 others(26): Show c.299-733_299-732insATATATTTTTT		EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18						chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	366	0.0027	11	c.299 others(26): Show c.299-733_299-732insATATATATATA		EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18						chr22	TogoVar
EIF4E_chr4_98874276_98934133	98907431	T T	TCAAAAAA others(4): Show TCAAAAAAGGCA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03139.hp2 HG01123.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0075 a0001c0001t0001g0011 a0001c0001t0001g0075	2	300	0.0067	11	c.19- others(26): Show c.19-5460_19-5450dupTGCCTTTTTTG		EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	1/6						chr4	TogoVar
EIF4E_chr4_98874276_98934133	98915545	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02559.hp1 others(5): Show HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG03225.hp2 NA19030.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0185 a0001c0001t0004g0186 others(5): Show a0001c0001t0004g0173 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191	8	300	0.0267	11	c.18+ others(28): Show c.18+13539_18+13549dupAAAAAAAAAAA		EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	1/6						chr4	TogoVar
EIF4G3_chr1_20801479_21181897	20857162	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03225.hp2 HG03453.hp2 others(1): Show HG01168.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0001c0001t0001 a0001c0001t0002 a0004c0006t0001	a0001c0001t0001g0208 a0001c0001t0002g0070 a0004c0006t0001g0119 others(1): Show a0001c0001t0001g0208 a0001c0001t0002g0070 a0004c0006t0001g0119 a0004c0006t0001g0120	4	312	0.0128	11	c.333 others(28): Show c.3339+230_3339+240dupTTTTTTTTTTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	25/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20868090	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp2 HG02451.hp2 others(14): Show HG01106.hp1 HG02145.hp2 HG02451.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18950.hp1 NA18952.hp2 NA18979.hp1 NA19000.hp2 NA19030.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 others(14): Show a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0251 a0001c0001t0003g0262 a0001c0001t0003g0270 a0001c0001t0004g0231 a0001c0001t0005g0282 a0001c0001t0005g0285 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0010g0232	17	312	0.0545	11	c.262 others(30): Show c.2623-2839_2623-2829dupAAAAAAAAAAA		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	20/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21007515	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01106.hp2 HG01168.hp1 others(26): Show HG00408.hp1 HG01106.hp2 HG01168.hp1 HG01261.hp2 HG01358.hp1 HG01928.hp2 HG01981.hp1 HG02027.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03492.hp2 NA18906.hp2 NA18943.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18962.hp2 NA18980.hp1 NA18982.hp2 NA19009.hp2 NA19054.hp1 NA19060.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0003 a0001c0001 a0001c0012 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0012t0002 a0002c0003t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(26): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0197 a0001c0001t0001g0312 a0001c0001t0006g0149 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0020g0023 a0001c0012t0002g0092 a0002c0003t0001g0212 a0002c0003t0001g0213	29	312	0.0930	11	c.-66 others(28): Show c.-66-4718_-66-4708dupTTTTTTTTTTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21007526	A A	AAACAAAC others(4): Show AAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01884.hp2 HG02258.hp2 others(9): Show HG01069.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG06807.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0024	a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0007g0001 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0014g0118 a0001c0001t0024g0300	12	312	0.0385	11	c.-66 others(28): Show c.-66-4719_-66-4718insGTTTGTTTGTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21007530	A A	AAACAAAC others(4): Show AAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	312	0.0032	11	c.-66 others(28): Show c.-66-4723_-66-4722insGTTTGTTTGTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21026539	C C	CAACTTGG others(4): Show CAACTTGGGCAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0267	1	312	0.0032	11	c.-66 others(30): Show c.-66-23742_-66-23732dupATGCCCAAGTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21068382	A A	ACAAAACA others(4): Show ACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG02895.hp1 others(4): Show HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0024 a0001c0001t0002 a0001c0001t0007 a0001c0001t0024	a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0007g0041 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0024g0300	7	312	0.0224	11	c.-19 others(32): Show c.-195-17389_-195-17388insGTTTTGTTTTG		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21068387	A A	ACAAAACA others(4): Show ACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01884.hp2 HG02258.hp2 others(3): Show HG01069.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp1 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 others(3): Show a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0014g0118	6	312	0.0192	11	c.-19 others(32): Show c.-195-17394_-195-17393insGTTTTGTTTTG		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG04199.hp1 NA20300.hp1 HG02451.hp1 HG04199.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0001 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0227 a0001c0001t0007g0043 a0001c0001t0014g0118 a0001c0001t0001g0227 a0001c0001t0007g0043 a0001c0001t0014g0118	3	312	0.0096	11	c.-19 others(30): Show c.-196+6090_-196+6100dupTTTTTTTTTTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	312	0.0032	11	c.-27 others(32): Show c.-271-28534_-271-28524dupTTTTTTTTTTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179942	T T	TATCAAGC others(4): Show TATCAAGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	312	0.0032	11	c.-36 others(22): Show c.-3677_-3676insTGCTGCTTGAT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding					3046		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180056	T T	TTACATAT others(4): Show TTACATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03486.hp1 NA19043.hp1 HG02622.hp2 HG03486.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0214 a0001c0001t0005g0295 a0001c0002t0001g0098 a0001c0001t0001g0214 a0001c0001t0005g0295 a0001c0002t0001g0098	3	312	0.0096	11	c.-37 others(22): Show c.-3791_-3790insTAATATATGTA		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding					3160		chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	A A	AATTTTTT others(4): Show AATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	374	0.0027	11	c.60- others(24): Show c.60-823_60-822insATTTTTTTTTT		EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6						chr7	TogoVar
EIF4H_chr7_74169356_74202096	74201333	G G	GAGTAGCT others(4): Show GAGTAGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	374	0.0027	11	c.60 others(22): Show c.6025_*6026insAGTAGCTGGGA		EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding					4238		chr7	TogoVar
EIF4H_chr7_74169356_74202096	74201908	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01106.hp2 others(35): Show HG00741.hp2 HG01071.hp1 HG01106.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03540.hp1 HG03540.hp2 NA18975.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19084.hp2 NA19091.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0001 a0001c0001t0002 a0001c0001t0014	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0002g0043 a0001c0001t0014g0025	38	374	0.1016	11	c.66 others(22): Show c.6600_*6601insTTTTTTTTTTT		EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding					4813		chr7	TogoVar
EIF5A2_chr3_170883418_170913637	170889048	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0071 a0001c0001t0047g0071	1	394	0.0025	11	c.43 others(22): Show c.4301_*4311dupAAAAAAAAAAA		EIF5A2	ENSG00000163577.8	transcript	ENST00000295822.7	protein_coding	5/5				4311		chr3	TogoVar
EIF5B_chr2_99332389_99406326	99353005	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01981.hp2 others(2): Show HG01256.hp2 HG01258.hp2 HG01981.hp2 HG02717.hp2 NA18949.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0002 a0002c0001t0005	a0002c0001t0002g0207 a0002c0001t0002g0225 a0002c0001t0005g0232 others(2): Show a0002c0001t0002g0207 a0002c0001t0002g0225 a0002c0001t0005g0232 a0002c0001t0005g0275 a0002c0001t0005g0276	5	342	0.0146	11	c.36- others(26): Show c.36-7214_36-7204dupTTTTTTTTTTT		EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF5B_chr2_99332389_99406326	99381516	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0297 a0001c0005t0002g0297	1	342	0.0029	11	c.206 others(28): Show c.2062-643_2062-642insTGTGTGTGTGT		EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	12/23						chr2	TogoVar
EIF5B_chr2_99332389_99406326	99384196	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG01123.hp1 others(21): Show HG00609.hp2 HG00642.hp2 HG01123.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 NA18906.hp2 NA18948.hp2 NA19072.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0013 a0001c0003t0014 a0001c0004t0001	a0001c0002t0001g0121 a0001c0002t0001g0146 a0001c0002t0001g0158 others(20): Show a0001c0002t0001g0121 a0001c0002t0001g0146 a0001c0002t0001g0158 a0001c0002t0003g0171 a0001c0003t0001g0009 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0034 a0001c0003t0002g0305 a0001c0003t0004g0041 a0001c0003t0004g0056 a0001c0003t0009g0027 a0001c0003t0009g0028 a0001c0003t0009g0029 a0001c0003t0009g0030 a0001c0003t0009g0031 a0001c0003t0013g0072 a0001c0003t0013g0073 a0001c0003t0014g0032 a0001c0003t0014g0033 a0001c0004t0001g0077	24	342	0.0702	11	c.227 others(30): Show c.2271+1276_2271+1286dupAAAAAAAAAAA		EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	14/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF6_chr20_35273918_35289772	35277784	T T	TCGGGCTG others(4): Show TCGGGCTGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	386	0.0026	11	c.14 others(22): Show c.1412_*1413insGCCCCAGCCCG		EIF6	ENSG00000242372.9	transcript	ENST00000374450.8	protein_coding					1133		chr20	TogoVar
EIPR1_chr2_3183970_3382818	3199059	G G	GGCCCCCC others(4): Show GGCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19005.hp1 NA19091.hp1 NA18995.hp1 NA19005.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0088 a0001c0001t0001g0219 a0001c0003t0001g0193 a0001c0001t0001g0088 a0001c0001t0001g0219 a0001c0003t0001g0193	3	250	0.0120	11	c.517 others(28): Show c.517-2043_517-2042insGGGGGGGGGGC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	5/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3199060	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03225.hp2 HG03688.hp1 HG01255.hp1 HG03225.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0003g0042 a0001c0001t0003g0222 a0001c0001t0001g0017 a0001c0001t0003g0042 a0001c0001t0003g0222	3	250	0.0120	11	c.517 others(28): Show c.517-2044_517-2043insGGGGGGGGGGG		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	5/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3341095	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	250	0.0040	11	c.127 others(28): Show c.127-2957_127-2947dupTTTTTTTTTTT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	2/8						chr2	TogoVar
ELAC2_chr17_12986612_13023027	12986673	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG02615.hp1 HG02647.hp2 HG01258.hp2 HG02615.hp1 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0025 a0002c0002t0006 a0002c0002t0025	a0002c0002t0006g0018 a0002c0002t0006g0086 a0002c0002t0025g0060 a0002c0002t0006g0018 a0002c0002t0006g0086 a0002c0002t0025g0060	3	400	0.0075	11	c.61 others(22): Show c.6134_*6144dupTTTTTTTTTTT		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding					4938		chr17	TogoVar
ELAC2_chr17_12986612_13023027	12989101	C C	CCCCAAAA others(4): Show CCCCAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01257.hp1 others(9): Show HG00738.hp2 HG01070.hp2 HG01257.hp1 HG01258.hp2 HG01943.hp2 HG02056.hp2 HG02257.hp1 HG02273.hp2 HG03490.hp2 HG03704.hp2 HG03831.hp2 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0025 a0002c0002t0028 a0002c0002t0005 a0002c0002t0025 a0002c0002t0028	a0002c0002t0005g0005 a0002c0002t0005g0090 a0002c0002t0005g0091 others(5): Show a0002c0002t0005g0005 a0002c0002t0005g0090 a0002c0002t0005g0091 a0002c0002t0005g0101 a0002c0002t0005g0102 a0002c0002t0005g0105 a0002c0002t0025g0060 a0002c0002t0028g0092	12	400	0.0300	11	c.37 others(22): Show c.3716_*3717insTTTTTTTTGGG		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding					2510		chr17	TogoVar
ELAC2_chr17_12986612_13023027	12989101	C C	CCCCCAAA others(4): Show CCCCCAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0096 a0002c0002t0005g0096	1	400	0.0025	11	c.37 others(22): Show c.3716_*3717insTTTTTTTGGGG		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding					2510		chr17	TogoVar
ELAC2_chr17_12986612_13023027	12989101	C C	CCGAAAAA others(4): Show CCGAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG03195.hp2 HG02559.hp2 HG02647.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0086 a0002c0002t0006g0018 a0002c0002t0006g0086	3	400	0.0075	11	c.37 others(22): Show c.3716_*3717insTTTTTTTTTCG		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding					2510		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13009990	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp1 HG02886.hp2 others(1): Show HG02145.hp1 HG02818.hp1 HG02886.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0021 a0002c0008t0012 a0002c0002t0021 a0002c0008t0012	a0002c0002t0021g0112 a0002c0008t0012g0034 a0002c0008t0012g0093 a0002c0002t0021g0112 a0002c0008t0012g0034 a0002c0008t0012g0093	4	400	0.0100	11	c.738 others(26): Show c.738+612_738+622dupTTTTTTTTTTT		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding	8/23						chr17	TogoVar
ELANE_chr19_847303_861243	852914	G G	GGTGGGGG others(4): Show GGTGGGGGGGGT	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG00735.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0005 a0004c0016t0001g0005	1	403	0.0025	11	c.106 others(18): Show c.106_107insGTGGGGGGGGT	p.Ala others(4): Show p.Ala36fs	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding	2/5	133/909	107/804	36/267			chr19	TogoVar
ELAPOR1_chr1_109109115_109211781	109118900	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02258.hp1 HG02258.hp2 others(7): Show HG01934.hp2 HG02258.hp1 HG02258.hp2 HG02622.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0001c0024 others(4): Show a0001c0001 a0001c0013 a0001c0024 a0002c0003 a0002c0006 a0002c0029 a0003c0004	a0001c0001t0001 a0001c0013t0001 a0001c0024t0001 others(5): Show a0001c0001t0001 a0001c0013t0001 a0001c0024t0001 a0002c0003t0011 a0002c0006t0001 a0002c0006t0011 a0002c0029t0013 a0003c0004t0028	a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0001g0110 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0013t0001g0105 a0001c0024t0001g0096 a0002c0003t0011g0097 a0002c0006t0001g0111 a0002c0006t0011g0100 a0002c0029t0013g0095 a0003c0004t0028g0098	10	230	0.0435	11	c.153 others(28): Show c.153+4569_153+4579dupTTTTTTTTTTT		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0023 a0002c0003t0023	a0002c0003t0023g0213 a0002c0003t0023g0213	1	230	0.0044	11	c.154 others(30): Show c.154-17832_154-17831insATATATATTTT		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86986428	C C	CACAAAAA others(4): Show CACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp2 HG03195.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0140 a0002c0002t0002g0141	2	196	0.0102	11	c.190 others(30): Show c.190-21405_190-21404insTTTTTTTTTGT		ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21						chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAGGAAG others(4): Show AGAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0165 a0001c0001t0022g0165	1	276	0.0036	11	c.60 others(22): Show c.6094_*6095insCTTCCTTCCTC		ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding					1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957877	C C	CGTAAATG others(4): Show CGTAAATGCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	276	0.0036	11	c.56 others(22): Show c.5605_*5606insAAAGCATTTAC		ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding					695		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	352	0.0028	11	c.713 others(28): Show c.713+1556_713+1566dupAAAAAAAAAAA		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6						chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23702951	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp2 HG04228.hp1 others(3): Show HG01106.hp2 HG01361.hp2 HG04228.hp1 HG06807.hp2 NA18990.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0127 a0001c0001t0001g0206 a0001c0001t0001g0210 others(3): Show a0001c0001t0001g0127 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0247 a0001c0002t0002g0032	6	352	0.0171	11	c.488 others(28): Show c.488-1358_488-1348dupTTTTTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	4/6						chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02071.hp2 HG04199.hp1 others(5): Show HG00738.hp2 HG02071.hp2 HG04199.hp1 NA18522.hp1 NA18979.hp2 NA18988.hp1 NA19005.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0022	a0001c0001t0001g0070 a0001c0001t0001g0137 a0001c0001t0001g0155 others(5): Show a0001c0001t0001g0070 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0180 a0001c0001t0001g0209 a0001c0001t0004g0049 a0001c0001t0005g0228 a0001c0001t0022g0072	8	352	0.0227	11	c.230 others(28): Show c.230-3991_230-3981dupTTTTTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6						chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23759754	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0099 a0001c0005t0001g0099	1	352	0.0028	11	c.229 others(28): Show c.229+2251_229+2252insTATATATATAT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6						chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830625	C C	CACACACA others(4): Show CACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	352	0.0028	11	c.-48 others(22): Show c.-4836_-4835insTGTGTGTGTGT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding					4386		chr9	TogoVar
ELAVL3_chr19_11446326_11486046	11449915	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	318	0.0031	11	c.46 others(22): Show c.4610_*4611insGGGGGGGGGGG		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding					1410		chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11452700	G G	GCCCATAG others(4): Show GCCCATAGCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0176 a0001c0001t0055g0176	1	318	0.0031	11	c.18 others(22): Show c.1825_*1826insTGGGCTATGGG		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	7/7				1825		chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11465020	T T	TACACACA others(4): Show TACACACACCAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp1 HG02257.hp2 others(18): Show HG01123.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03491.hp2 HG03492.hp1 HG03831.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0044	a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0305 others(18): Show a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0002g0277 a0001c0001t0005g0069 a0001c0001t0005g0278 a0001c0001t0005g0295 a0001c0001t0006g0276 a0001c0001t0015g0296 a0001c0001t0015g0301 a0001c0001t0020g0063 a0001c0001t0020g0064 a0001c0001t0021g0298 a0001c0001t0021g0300 a0001c0001t0022g0139 a0001c0001t0022g0294 a0001c0001t0028g0283 a0001c0001t0028g0284 a0001c0001t0031g0017 a0001c0001t0032g0016 a0001c0001t0044g0304	21	318	0.0660	11	c.333 others(28): Show c.333+1141_333+1151dupGTGGTGTGTGT		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6						chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11465035	C C	CACACCAC others(4): Show CACACCACACAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0025 a0001c0014t0025	a0001c0014t0025g0081 a0001c0014t0025g0081	1	318	0.0031	11	c.333 others(28): Show c.333+1136_333+1137insTTGTGTGGTGT		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6						chr19	TogoVar

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