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
EPHX4_chr1_92024985_92068538	92030457	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01175.hp2 others(1): Show HG00642.hp1 HG00741.hp2 HG01175.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0196	4	236	0.0170	22	c.231 others(37): Show c.231+155_231+176dupTGTGTGTGTGTGTGTGTGTGTG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX4_chr1_92024985_92068538	92030483	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG02040.hp1 others(6): Show HG00099.hp1 HG00642.hp2 HG02040.hp1 HG03239.hp2 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG06807.hp1 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0164 a0001c0001t0001g0166 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0002c0002t0001g0165	9	236	0.0381	22	c.231 others(37): Show c.231+176_231+177insTGTGTGTGTGTGTGTGTGAGTG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX4_chr1_92024985_92068538	92030485	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGAGTGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	236	0.0042	22	c.231 others(37): Show c.231+176_231+177insTGTGTGTGTGTGTGTGAGTGAG	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHX4_chr1_92024985_92068538	92030490	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	236	0.0042	22	c.231 others(37): Show c.231+180_231+181insTGTGTGTGTGTGTGTGTGTGTA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6			chr1	TogoVar
EPM2A_chr6_145620305_145740520	145683268	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	320	0.0031	22	c.476 others(39): Show c.476+2832_476+2853dupACACACACACACACACACACAC	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	2/3			chr6	TogoVar
EPM2A_chr6_145620305_145740520	145715139	T T	TTTCTGTT others(15): Show TTTCTGTTTGACAATAATTTATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0145	1	320	0.0031	22	c.301 others(41): Show c.301+20037_301+20058dupTATAAATTATTGTCAAACAGAA	EPM2A	ENSG00000112425.16	transcript	ENST00000367519.9	protein_coding	1/3			chr6	TogoVar
EPN2_chr17_19232366_19341715	19276773	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024	3	282	0.0106	22	c.-29 others(41): Show c.-293-5164_-293-5163insTTTTTTTTTTTTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(15): Show GTTTTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 NA18942.hp1 HG00423.hp1 HG00673.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0008g0027 a0001c0001t0008g0062 a0001c0001t0008g0064	3	282	0.0106	22	c.766 others(39): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG01257.hp2 others(9): Show HG00639.hp1 HG01256.hp1 HG01257.hp2 HG01515.hp1 HG01517.hp1 HG01993.hp1 HG02257.hp2 HG02615.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0072 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0175 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0001t0005g0045	12	282	0.0426	22	c.114 others(41): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOP_chr17_38666703_38679957	38676561	T T	TACACACA others(15): Show TACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	351	0.0029	22	c.-20 others(33): Show c.-2067_-2066insGTGTGTGTGTGTGTGTGTGTGT	EPOP	ENSG00000273604.2	transcript	ENST00000621654.2	protein_coding		1605		chr17	TogoVar
EPOR_chr19_11372207_11389314	11384667	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03209.hp1 HG03471.hp2 HG02615.hp2 HG03209.hp1 HG03471.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0001 a0008c0015t0001 a0001c0001t0001 a0008c0015t0001	a0001c0001t0001g0003 a0008c0015t0001g0071 a0001c0001t0001g0003 a0008c0015t0001g0071	3	404	0.0074	22	c.-48 others(31): Show c.-482_-461dupGAGAGAGAGAGAGAGAGAGAGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		354		chr19	TogoVar
EPOR_chr19_11372207_11389314	11384703	C C	CTCCTTTC others(15): Show CTCCTTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	22	c.-49 others(31): Show c.-497_-496insAAGGAAGGAAGGAAGGAAAGGA	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		390		chr19	TogoVar
EPO_chr7_100715468_100728700	100724793	G G	GAGTTCAT others(15): Show GAGTTCATTTGTTCCATGTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	380	0.0026	22	c.16 others(33): Show c.1660_*1661insAGTTCATTTGTTCCATGTCCCC	EPO	ENSG00000130427.3	transcript	ENST00000252723.3	protein_coding		1094		chr7	TogoVar
EPPK1_chr8_143852324_143883467	143876445	G G	GGTGGCTA others(15): Show GGTGGCTACGGGGCTGTCCAGAT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0236 a0236	a0236c0349 a0236c0349	a0236c0349t0005 a0236c0349t0005	a0236c0349t0005g0045 a0236c0349t0005g0045	1	424	0.0024	22	c.-46 others(39): Show c.-46+1971_-46+1992dupATCTGGACAGCCCCGTAGCCAC	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPS15L1_chr19_16350247_16476970	16369676	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	276	0.0036	22	c.238 others(41): Show c.2380+7424_2380+7445dupACACACACACACACACACACAC	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	22/23			chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16394354	T T	TAAGAGGA others(15): Show TAAGAGGACACAGGACCCTGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00735.hp2 others(17): Show HG00099.hp1 HG00323.hp2 HG00735.hp2 HG01496.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02602.hp2 HG02895.hp1 HG02922.hp1 HG03453.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18949.hp2 NA18962.hp2 NA18971.hp2 NA18998.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(17): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0147 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264	20	276	0.0725	22	c.191 others(39): Show c.1916-375_1916-354dupGCCCAGGGTCCTGTGTCCTCTT	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	17/23			chr19	TogoVar
EPS15_chr1_51349263_51524266	51381109	T T	TTCAATGT others(15): Show TTCAATGTGAATAAAACAGAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01257.hp2 others(6): Show HG00642.hp1 HG01109.hp2 HG01257.hp2 HG02559.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2 NA19043.hp1 NA20129.hp2	a0002 a0004 a0008 others(1): Show a0002 a0004 a0008 a0010	a0002c0001 a0004c0010 a0008c0012 others(1): Show a0002c0001 a0004c0010 a0008c0012 a0010c0015	a0002c0001t0007 a0002c0001t0011 a0004c0010t0026 others(2): Show a0002c0001t0007 a0002c0001t0011 a0004c0010t0026 a0008c0012t0007 a0010c0015t0011	a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 others(6): Show a0002c0001t0007g0133 a0002c0001t0007g0134 a0002c0001t0007g0135 a0002c0001t0011g0130 a0002c0001t0011g0131 a0002c0001t0011g0132 a0004c0010t0026g0129 a0008c0012t0007g0136 a0010c0015t0011g0152	9	152	0.0592	22	c.211 others(43): Show c.2119+13271_2119+13272insTCTTCTGTTTTATTCACATTGA	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	21/24			chr1	TogoVar
EPS8L2_chr11_701231_732727	720978	G G	GCCCGGCA others(15): Show GCCCGGCAGGGGAGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp2 NA18950.hp2 others(1): Show HG02155.hp1 HG02155.hp2 NA18950.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0227 a0001c0001t0003g0069 a0001c0003t0001g0157 others(1): Show a0001c0001t0001g0227 a0001c0001t0003g0069 a0001c0003t0001g0157 a0001c0003t0002g0115	4	406	0.0099	22	c.557 others(35): Show c.557+71_557+72insCGGCAGGGGAGGGGAGGAGCCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EQTN_chr9_27279654_27302150	27298537	T T	TTAGGCCC others(15): Show TTAGGCCCATCCGGATATTGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	446	0.0022	22	c.-14 others(33): Show c.-1483_-1482insTTGCAATATCCGGATGGGCCTA	EQTN	ENSG00000120160.11	transcript	ENST00000380032.8	protein_coding		1388		chr9	TogoVar
ERAP1_chr5_96769484_96812945	96808187	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG02074.hp2 NA19075.hp1 HG01981.hp2 HG02074.hp2 NA19075.hp1	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0001 a0007c0007 a0011c0011 a0001c0001 a0007c0007 a0011c0011	a0001c0001t0002 a0007c0007t0007 a0011c0011t0001 a0001c0001t0002 a0007c0007t0007 a0011c0011t0001	a0001c0001t0002g0030 a0007c0007t0007g0115 a0011c0011t0001g0333 a0001c0001t0002g0030 a0007c0007t0007g0115 a0011c0011t0001g0333	3	416	0.0072	22	c.-34 others(31): Show c.-346_-345insACACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96874180	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0135 a0001c0004t0011g0135	1	398	0.0025	22	c.-24 others(33): Show c.-2470_-2469insAGAAAGAAAGAAAGAAAGAGAG	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding		2319		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96914148	T T	TCTCACAC others(15): Show TCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG03688.hp2 others(13): Show HG00558.hp2 HG00609.hp1 HG03688.hp2 NA18962.hp1 NA18964.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19064.hp1 NA19074.hp1 NA19090.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0009 a0003c0003t0018 a0003c0003t0004 a0003c0003t0009 a0003c0003t0018	a0003c0003t0004g0250 a0003c0003t0004g0276 a0003c0003t0004g0278 others(13): Show a0003c0003t0004g0250 a0003c0003t0004g0276 a0003c0003t0004g0278 a0003c0003t0004g0280 a0003c0003t0004g0281 a0003c0003t0004g0282 a0003c0003t0004g0284 a0003c0003t0004g0285 a0003c0003t0004g0286 a0003c0003t0004g0288 a0003c0003t0004g0292 a0003c0003t0004g0293 a0003c0003t0004g0294 a0003c0003t0009g0279 a0003c0003t0018g0275 a0003c0003t0018g0290	16	398	0.0402	22	c.265 others(39): Show c.2657+692_2657+693insTCACACACACACACACACACAC	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERAP2_chr5_96871500_96924703	96914148	T T	TCTCTCAC others(15): Show TCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0117 a0002c0002t0029g0117	1	398	0.0025	22	c.265 others(39): Show c.2657+692_2657+693insTCTCACACACACACACACACAC	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBB2_chr17_39695064_39733658	39695704	T T	TACACACA others(15): Show TACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02056.hp1 NA18980.hp1 others(1): Show HG00673.hp2 HG02056.hp1 NA18980.hp1 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0071 a0002c0002t0001g0136	4	318	0.0126	22	c.-45 others(33): Show c.-4535_-4534insACACACACACACACACACACAC	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding		4359		chr17	TogoVar
ERBB2_chr17_39695064_39733658	39695704	T T	TGCATACA others(15): Show TGCATACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0048 a0001c0024t0004g0048	1	318	0.0031	22	c.-45 others(33): Show c.-4535_-4534insGCATACACACACACACACACAC	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding		4359		chr17	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00738.hp2 others(57): Show HG00280.hp1 HG00280.hp2 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02132.hp1 HG02145.hp1 HG02559.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp1 NA18612.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18959.hp1 NA18966.hp2 NA18970.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18994.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19086.hp1 NA19089.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0001c0008 others(5): Show a0001c0001 a0001c0004 a0001c0008 a0002c0002 a0002c0006 a0002c0027 a0003c0003 a0006c0007	a0001c0001t0001 a0001c0004t0001 a0001c0008t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0008t0001 a0002c0002t0001 a0002c0006t0001 a0002c0027t0001 a0003c0003t0001 a0006c0007t0001	a0001c0001t0001g0041 a0001c0004t0001g0029 a0001c0004t0001g0101 others(25): Show a0001c0001t0001g0041 a0001c0004t0001g0029 a0001c0004t0001g0101 a0001c0008t0001g0109 a0001c0008t0001g0112 a0002c0002t0001g0002 a0002c0002t0001g0015 a0002c0002t0001g0031 a0002c0002t0001g0044 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0102 a0002c0002t0001g0107 a0002c0002t0001g0113 a0002c0002t0001g0123 a0002c0002t0001g0133 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0146 a0002c0006t0001g0016 a0002c0027t0001g0015 a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0053 a0003c0003t0001g0122 a0003c0003t0001g0125 a0003c0003t0001g0141 a0006c0007t0001g0002	60	318	0.1887	22	c.230 others(39): Show c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTT	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB3_chr12_56075165_56108505	56091266	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19240.hp1 HG02572.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0003 a0001c0001t0002 a0001c0015t0003	a0001c0001t0002g0318 a0001c0015t0003g0322 a0001c0001t0002g0318 a0001c0015t0003g0322	2	392	0.0051	22	c.111 others(41): Show c.1110-1472_1110-1451dupTATATATATATATATATATATA	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBB4_chr2_211370717_212543802	211513357	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	1	56	0.0179	22	c.248 others(43): Show c.2487+48545_2487+48546insTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211515912	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02922.hp2 HG03579.hp2 HG01192.hp1 HG02922.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0045 a0001c0001t0004g0033 a0001c0001t0008g0013 a0001c0001t0001g0045 a0001c0001t0004g0033 a0001c0001t0008g0013	3	56	0.0536	22	c.248 others(43): Show c.2487+45990_2487+45991insAATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211515912	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02895.hp1 HG03834.hp2 HG01069.hp1 HG02895.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0030 a0001c0001t0002 a0001c0001t0019 a0001c0001t0030	a0001c0001t0002g0016 a0001c0001t0019g0002 a0001c0001t0030g0056 a0001c0001t0002g0016 a0001c0001t0019g0002 a0001c0001t0030g0056	3	56	0.0536	22	c.248 others(43): Show c.2487+45990_2487+45991insAAAATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211550574	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0025 a0001c0001t0004g0011 a0001c0001t0002g0025 a0001c0001t0004g0011	2	56	0.0357	22	c.248 others(43): Show c.2487+11328_2487+11329insATATATATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211599513	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp2 HG02809.hp1 others(5): Show HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG03239.hp2 NA18522.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0023 a0001c0001t0027 a0002c0003t0001	a0001c0001t0002g0024 a0001c0001t0003g0017 a0001c0001t0003g0049 others(5): Show a0001c0001t0002g0024 a0001c0001t0003g0017 a0001c0001t0003g0049 a0001c0001t0004g0011 a0001c0001t0014g0007 a0001c0001t0023g0012 a0001c0001t0027g0055 a0002c0003t0001g0014	8	56	0.1429	22	c.230 others(43): Show c.2301+19642_2301+19663dupCACACACACACACACACACACA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673517	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03516.hp1 NA19240.hp1 HG03195.hp2 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0025 a0001c0001t0003g0050 a0001c0001t0009g0023 a0001c0001t0002g0025 a0001c0001t0003g0050 a0001c0001t0009g0023	3	56	0.0536	22	c.162 others(39): Show c.1623-261_1623-260insTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211709272	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	56	0.0179	22	c.112 others(41): Show c.1124+2777_1124+2778insGTATATATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	9/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211721620	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	56	0.0179	22	c.883 others(37): Show c.883+751_883+772dupATATATATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	7/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211772924	C C	CACACACA others(15): Show CACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG02717.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0017 a0001c0001t0023g0012 a0001c0001t0003g0017 a0001c0001t0023g0012	2	56	0.0357	22	c.556 others(41): Show c.556+15100_556+15101insATATATATGTGTGTGTGTGTGT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211934926	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp2 NA18906.hp1 HG02895.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0025 a0001c0001t0001 a0001c0001t0019 a0001c0001t0025	a0001c0001t0001g0045 a0001c0001t0019g0002 a0001c0001t0025g0051 a0001c0001t0001g0045 a0001c0001t0019g0002 a0001c0001t0025g0051	3	56	0.0536	22	c.421 others(41): Show c.421+12503_421+12504insTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212102088	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0056 a0001c0001t0030g0056	1	56	0.0179	22	c.234 others(41): Show c.234+22663_234+22664insTATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212102090	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	56	0.0179	22	c.234 others(41): Show c.234+22640_234+22661dupTATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212188184	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0006 a0001c0001t0022g0006	1	56	0.0179	22	c.83- others(39): Show c.83-63303_83-63282dupGAGAGAGAGAGAGAGAGAGAGA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18522.hp2 HG02922.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0024 a0001c0001t0014 a0001c0001t0024	a0001c0001t0014g0007 a0001c0001t0024g0038 a0001c0001t0014g0007 a0001c0001t0024g0038	2	56	0.0357	22	c.82+ others(41): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212540894	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02922.hp1 HG02922.hp2 others(3): Show HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03195.hp1 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019	a0001c0001t0001g0045 a0001c0001t0004g0003 a0001c0001t0004g0008 others(3): Show a0001c0001t0001g0045 a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0010g0005 a0001c0001t0014g0007 a0001c0001t0019g0002	6	56	0.1071	22	c.-23 others(33): Show c.-2365_-2364insTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding		2093		chr2	TogoVar
ERBIN_chr5_65921575_66087546	65987367	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02055.hp2 HG02273.hp1 others(2): Show HG00621.hp2 HG02055.hp2 HG02273.hp1 NA18970.hp2 NA18991.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0004 a0001c0001 a0001c0007 a0003c0004	a0001c0001t0001 a0001c0007t0010 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0007t0010 a0003c0004t0001 a0003c0004t0023	a0001c0001t0001g0090 a0001c0007t0010g0275 a0003c0004t0001g0114 others(2): Show a0001c0001t0001g0090 a0001c0007t0010g0275 a0003c0004t0001g0114 a0003c0004t0001g0134 a0003c0004t0023g0304	5	306	0.0163	22	c.-57 others(39): Show c.-57-1261_-57-1240dupACACACACACACACACACACAC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018480	T T	TTATATAA others(15): Show TTATATAATATAATATTATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	306	0.0033	22	c.534 others(39): Show c.534-2836_534-2835insATATAATATTATATAATATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1007540	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0059 a0002c0007t0059	a0002c0007t0059g0071 a0002c0007t0059g0071	1	162	0.0062	22	c.-15 others(43): Show c.-157+16219_-157+16220insCTCTCTCTCTGTGTGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1093957	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01192.hp1 HG01496.hp1 others(3): Show HG00408.hp2 HG01192.hp1 HG01496.hp1 HG01981.hp1 HG02155.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0071 a0001c0001t0091 a0001c0001t0095 others(3): Show a0001c0001t0071 a0001c0001t0091 a0001c0001t0095 a0001c0001t0117 a0001c0001t0120 a0001c0003t0088	a0001c0001t0071g0074 a0001c0001t0091g0028 a0001c0001t0095g0019 others(3): Show a0001c0001t0071g0074 a0001c0001t0091g0028 a0001c0001t0095g0019 a0001c0001t0117g0001 a0001c0001t0120g0024 a0001c0003t0088g0021	6	162	0.0370	22	c.108 others(43): Show c.1086+10384_1086+10405dupTATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122127	G G	GTCTCTAT others(15): Show GTCTCTATCTCTATCTCTATCTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp1 NA19030.hp2 HG00741.hp2 HG02280.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111	a0001c0001t0109g0014 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0109g0014 a0001c0001t0110g0013 a0001c0001t0111g0017	3	162	0.0185	22	c.156 others(41): Show c.1569+6115_1569+6116insATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122205	G G	GTCTCTAT others(15): Show GTCTCTATCTCTATCTCTATCTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18612.hp2 HG01257.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0114 a0001c0001t0011 a0001c0001t0114	a0001c0001t0011g0034 a0001c0001t0114g0051 a0001c0001t0011g0034 a0001c0001t0114g0051	2	162	0.0124	22	c.156 others(41): Show c.1569+6193_1569+6194insATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122307	G G	GTCTCTAT others(15): Show GTCTCTATCTCTATCTATCTCTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG06807.hp1 HG02922.hp2 HG06807.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0011 a0002c0002 a0008c0011	a0002c0002t0036 a0008c0011t0044 a0002c0002t0036 a0008c0011t0044	a0002c0002t0036g0158 a0008c0011t0044g0068 a0002c0002t0036g0158 a0008c0011t0044g0068	2	162	0.0124	22	c.156 others(41): Show c.1569+6289_1569+6290insATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122307	G G	GTCTCTAT others(15): Show GTCTCTATCTCTATCTCTATCTA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0019 a0001c0001t0095g0019	1	162	0.0062	22	c.156 others(41): Show c.1569+6295_1569+6296insATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar

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