Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0302 a0001c0001t0007g0302	1	129	0.0078	45	c.119 others(62): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF3E_chr8_108196216_108253717	108197482	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	20	0.0500	45	c.44 others(56): Show c.4402_*4403insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding		3733		chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01243.hp1 HG00140.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	2	309	0.0065	45	c.40 others(54): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	195	0.0051	45	c.299 others(60): Show c.299-733_299-732insATATATATATATATATATATATATATATAT ATATTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4E_chr4_98874276_98934133	98896224	A A	AAAATAAA others(38): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01169.hp2 others(10): Show HG00735.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02970.hp2 HG02976.hp1 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 others(10): Show a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0004g0180 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185	13	285	0.0456	45	c.126 others(62): Show c.126-4893_126-4892insAATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	2/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	20989051	A A	AGGAGGGG others(38): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0119 a0003c0005t0001g0119	1	308	0.0032	45	c.178 others(62): Show c.178-6644_178-6643insCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(38): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03195.hp2 HG03453.hp1 others(6): Show HG01361.hp2 HG03195.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG04204.hp1 NA18948.hp2 NA19077.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 others(6): Show a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0153 a0001c0001t0001g0176 a0001c0001t0001g0311 a0001c0001t0002g0058 a0001c0001t0008g0304	9	112	0.0804	45	c.178 others(62): Show c.178-6649_178-6648insCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(38): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	210	0.0048	45	c.178 others(62): Show c.178-6674_178-6673insTCTCCTCTCCCCTCCCCTTCCCTCCCCT CCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(38): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	210	0.0048	45	c.178 others(62): Show c.178-6674_178-6673insTCTCCTCTCCTCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(38): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG01261.hp1 others(20): Show HG01175.hp1 HG01256.hp2 HG01261.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02258.hp1 HG02886.hp1 HG03017.hp2 HG03195.hp1 HG03491.hp1 HG03927.hp1 NA18949.hp1 NA18966.hp1 NA18975.hp2 NA18982.hp1 NA18987.hp2 NA19009.hp1 NA19084.hp2 NA19240.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0007c0012t0002	a0001c0001t0001g0206 a0001c0001t0002g0001 a0001c0001t0002g0003 others(20): Show a0001c0001t0001g0206 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0013g0004 a0001c0001t0013g0005 a0001c0001t0017g0031 a0001c0001t0018g0051 a0007c0012t0002g0044	23	232	0.0991	45	c.178 others(62): Show c.178-6674_178-6673insTCTCCTCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(38): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 NA19058.hp2 HG01175.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0109 a0002c0002t0006g0011 a0001c0001t0001g0109 a0002c0002t0006g0011	2	222	0.0090	45	c.-46 others(56): Show c.-4604_-4603insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(38): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	91	0.0110	45	c.60 others(56): Show c.6094_*6095insCTTCCTTCTCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(38): Show TCCAGTCTCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	69	0.0145	45	c.238 others(64): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0015 a0001c0003t0007g0015	1	147	0.0068	45	c.482 others(60): Show c.482-515_482-514insAAAAAAAAATATATATATATATATATATAT ATATATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	106	0.0094	45	c.870 others(62): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	37161933	T T	TATATATA others(38): Show TATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	90	0.0111	45	c.108 others(66): Show c.1087-28700_1087-28699insTATATATATATATATATATATATA TATATATATATATATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(38): Show GCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	72	0.0139	45	c.-47 others(56): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(38): Show GGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	72	0.0139	45	c.-47 others(56): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(38): Show GGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0203 a0001c0001t0004g0203	1	72	0.0139	45	c.-47 others(56): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELOVL6_chr4_110040846_110203615	110084115	T T	TATACATG others(38): Show TATACATGTTATATATCATATATATCATATATATGTTATATATGAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0074 a0001c0001t0072g0074	1	336	0.0030	45	c.221 others(64): Show c.221+21381_221+21382insGTCATATATAACATATATATGATATA TATGATATATAACATGTAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	55	0.0182	45	c.90- others(62): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
EMC10_chr19_50471507_50495871	50472270	T T	TATATACA others(38): Show TATATACATGTATGTGTGTATATGTATATATACATGTATGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(31): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01109.hp1 HG02015.hp1 HG02056.hp1 HG02165.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02738.hp1 HG02896.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03831.hp2 HG04115.hp1 NA18612.hp2 NA18973.hp2 NA18977.hp1 NA19002.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 others(16): Show a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0034 a0001c0002t0053 a0001c0002t0054 a0001c0002t0086 a0001c0002t0089 a0001c0002t0094 a0001c0002t0095 a0001c0002t0098 a0001c0002t0100 a0001c0002t0161 a0001c0002t0163 a0001c0002t0164 a0001c0002t0165 a0001c0002t0166 a0001c0002t0168 a0004c0005t0099	a0001c0002t0004g0006 a0001c0002t0018g0005 a0001c0002t0018g0020 others(18): Show a0001c0002t0004g0006 a0001c0002t0018g0005 a0001c0002t0018g0020 a0001c0002t0019g0020 a0001c0002t0019g0052 a0001c0002t0034g0005 a0001c0002t0053g0005 a0001c0002t0054g0005 a0001c0002t0086g0006 a0001c0002t0089g0043 a0001c0002t0094g0005 a0001c0002t0095g0005 a0001c0002t0098g0006 a0001c0002t0100g0005 a0001c0002t0161g0003 a0001c0002t0163g0005 a0001c0002t0164g0005 a0001c0002t0165g0005 a0001c0002t0166g0005 a0001c0002t0168g0005 a0004c0005t0099g0005	34	350	0.0971	45	c.-42 others(56): Show c.-4275_-4274insATATACATGTATGTGTGTATATGTATATATACAT GTATGTGTGTA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4236		chr19	TogoVar
EML1_chr14_99788413_99947060	99928140	G G	GTGGTGAT others(38): Show GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0014 a0001c0004t0003g0014	1	251	0.0040	45	c.190 others(64): Show c.1909+7268_1909+7269insATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928143	G G	GTGGTGAT others(38): Show GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG01071.hp1 others(10): Show HG00140.hp1 HG01069.hp1 HG01071.hp1 HG02074.hp1 HG02132.hp2 HG02155.hp2 HG03654.hp2 HG03834.hp2 HG04115.hp1 NA18983.hp1 NA19060.hp1 NA19074.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0002c0001 others(2): Show a0001c0003 a0001c0004 a0002c0001 a0002c0006 a0003c0002	a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 others(3): Show a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0002c0001t0003 a0002c0006t0003 a0003c0002t0003	a0001c0003t0003g0181 a0001c0004t0001g0031 a0001c0004t0003g0023 others(10): Show a0001c0003t0003g0181 a0001c0004t0001g0031 a0001c0004t0003g0023 a0001c0004t0003g0024 a0001c0004t0003g0075 a0001c0004t0003g0177 a0001c0004t0003g0196 a0001c0004t0003g0264 a0001c0004t0003g0265 a0002c0001t0003g0032 a0002c0001t0003g0236 a0002c0006t0003g0231 a0003c0002t0003g0274	13	258	0.0504	45	c.190 others(64): Show c.1909+7271_1909+7272insATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0317 a0001c0001t0005g0317	1	47	0.0213	45	c.26- others(58): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	94	0.0106	45	c.243 others(64): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENOSF1_chr18_665318_717630	667456	A A	ATGGTGAT others(38): Show ATGGTGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0355 a0003c0004t0003g0355	1	361	0.0028	45	c.68 others(56): Show c.6848_*6849insCCATCACCATCACCATCTCCATCTCCATCACCAT CTCCATCACCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2861		chr18	TogoVar
EOLA2_chrX_149927197_149943491	149927590	T T	TCCCCCCC others(38): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	329	0.0030	45	c.49 others(56): Show c.4953_*4954insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGG	EOLA2	ENSG00000197021.9	transcript	ENST00000370406.8	protein_coding		4606		chrX	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(38): Show ACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	152	0.0066	45	c.-8+ others(62): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(38): Show ACACACACACACACACACACACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0154 a0001c0001t0005g0154	1	152	0.0066	45	c.-8+ others(62): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(38): Show CACACACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	274	0.0036	45	c.-8+ others(62): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPB42_chr15_43192227_43226018	43217362	C C	CCCAAACC others(38): Show CCCAAACCATATCACTTCTGTTAAATGAGAATCTGACTCTCACAGA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	286	0.0035	45	c.11- others(58): Show c.11-910_11-909insTCTGTGAGAGTCAGATTCTCATTTAACAGAAG TGATATGGTTTGG	EPB42	ENSG00000166947.15	transcript	ENST00000441366.7	protein_coding	1/12			chr15	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CTATATAT others(38): Show CTATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0078 a0001c0002t0004g0078	1	33	0.0303	45	c.111 others(66): Show c.1114+97935_1114+97936insTATATATATATATATATATATATA TATATATATATATATATATAT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17			chr3	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(38): Show CCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0041 a0041	a0041c0055 a0041c0055	a0041c0055t0001 a0041c0055t0004 a0041c0055t0001 a0041c0055t0004	a0041c0055t0001g0121 a0041c0055t0004g0120 a0041c0055t0001g0121 a0041c0055t0004g0120	2	153	0.0131	45	c.-46 others(58): Show c.-46+42_-46+43insCGGGTGCGGCGGGTGCGGCGGGTGCGGCGGGT GCGGCGGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPS8L2_chr11_701231_732727	720985	G G	GGGGAGGG others(38): Show GGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	370	0.0027	45	c.558 others(58): Show c.558-56_558-55insGAGGGGAGGAGCCCGGCAGGGAGGGAGGGGAG GAGCCCGGCAGGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERBB4_chr2_211370717_212543802	212191545	G G	GTGTTATA others(38): Show GTGTTATACATGTTATACCTGTTATATATAACACATGTGTTATACA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	5	0.2000	45	c.83- others(62): Show c.83-66643_83-66642insTGTATAACACATGTGTTATATATAACAG GTATAACATGTATAACA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018480	T T	TTATATAA others(38): Show TTATATAATATATATTATATAATATAATATATATTATATTATATAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03225.hp1 HG02630.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0001g0030 a0001c0001t0001g0055	2	230	0.0087	45	c.534 others(62): Show c.534-2836_534-2835insATATATATTATATAATATAATATATATT ATATTATATAATATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018506	T T	TTATATTA others(38): Show TTATATTATATAATATATATTATATATTATAATATATATTATATAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp2 HG00642.hp1 HG01515.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0137 a0003c0004t0001g0138 a0003c0004t0001g0137 a0003c0004t0001g0138	2	203	0.0099	45	c.534 others(62): Show c.534-2811_534-2810insTATATAATATATATTATATATTATAATA TATATTATATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC2_chr3_55503311_56473467	55583478	C C	CCCTCCTT others(38): Show CCCTCCTTCCTTCTCTCCCCTCCCCTCCCTCCCTCTCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0026 a0001c0001t0006g0027	2	69	0.0290	45	c.40 others(64): Show c.40-72203_*40-72202insAGGGAAGGAGAGAGGGAGGGAGGGGA GGGGAGAGAAGGAAGGAGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(38): Show CATATATATATATATATATGCCTTATATATATATGCATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG06807.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0056 a0001c0002t0003g0018 a0001c0001t0002g0056 a0001c0002t0003g0018	2	39	0.0513	45	c.256 others(66): Show c.2565-64533_2565-64532insATATATATATGCATATATATATAA GGCATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55831426	A A	AGGGAAGG others(38): Show AGGGAAGGGAGGGAAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp1 HG01109.hp1 others(20): Show HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG02258.hp1 HG02486.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03540.hp2 HG03834.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0063 a0001c0001t0002g0073 a0001c0001t0003g0070 a0001c0001t0004g0022 a0001c0001t0005g0062 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0012g0023 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0002g0012 a0001c0002t0004g0001 a0001c0004t0001g0028	23	63	0.3651	45	c.256 others(66): Show c.2564+56962_2564+56963insATCCCCTCCCCTTCCCTCCCCTCC CCTCCCCTTCCCTCCCTTCCC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55831426	A A	AGGGAAGG others(38): Show AGGGAAGGGAGGGAAGGGGAGGGGATGGGAGGGAAGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG03041.hp1 others(2): Show HG02630.hp1 HG02647.hp1 HG03041.hp1 HG03098.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0033 a0001c0001t0007g0002 a0001c0001t0007g0024 others(2): Show a0001c0001t0001g0033 a0001c0001t0007g0002 a0001c0001t0007g0024 a0001c0001t0009g0072 a0001c0002t0001g0042	5	45	0.1111	45	c.256 others(66): Show c.2564+56962_2564+56963insATCCCCTCCCCTTCCCTCCCATCC CCTCCCCTTCCCTCCCTTCCC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56126807	G G	GAAGGAAA others(38): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03834.hp2 HG02486.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0002g0040 a0001c0001t0001g0061 a0001c0001t0002g0040	2	12	0.1667	45	c.147 others(66): Show c.1473+12657_1473+12701dupTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERFL_chr19_41902704_41933449	41914817	C C	CATCTCCG others(38): Show CATCTCCGTCTCTGTCTCTCCCTCCCCCTCCACCATCTCCGTCTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	309	0.0032	45	c.-13 others(62): Show c.-13-1886_-13-1885insAGAGACGGAGATGGTGGAGGGGGAGGGA GAGACAGAGACGGAGAT	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGAGGGGA others(38): Show AGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGGGAGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	309	0.0032	45	c.156 others(62): Show c.156-1343_156-1342insAGGGGAGGGGGGGAGGGGGGGGAGGGGG GGGAGAGAGGGGAGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGAGGGGA others(38): Show AGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGGGGAGAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0131 a0001c0001t0029g0131	1	309	0.0032	45	c.156 others(62): Show c.156-1343_156-1342insAGGGGAGGGGGGGAGGGGGGGGAGGGGG GGGGAGAGAGGGGAGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGAGGGGA others(38): Show AGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	309	0.0032	45	c.156 others(62): Show c.156-1343_156-1342insAGGGGAGGGGGGGAGGGGGGGGGAGGGG GGGGAGAGAGGGGAGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGGGGAGG others(38): Show AGGGGAGGGGGGGAGGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18966.hp1 HG01243.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0290 a0001c0001t0004g0246 a0001c0001t0001g0290 a0001c0001t0004g0246	2	310	0.0065	45	c.156 others(62): Show c.156-1325_156-1324insGGGAGGGGGGGGGAGAGAGGGGAGGGGG GGAGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGAGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	254	0.0039	45	c.156 others(62): Show c.156-1325_156-1324insGAGGGGGGGGAGAGAGGGGAGGGGGGGG AGGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(38): Show AGGGGGGGAGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	254	0.0039	45	c.156 others(62): Show c.156-1325_156-1324insGAGGGGGGGGGGAGAGAGGGGAGGGGGG GAGGGGGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

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