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
ERCC6L2_chr9_95870691_96023447	95907832	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01358.hp2 others(5): Show HG01256.hp1 HG01258.hp2 HG01358.hp2 HG02040.hp2 HG02717.hp2 HG02896.hp2 HG03540.hp1 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0087 a0004c0004t0037 others(1): Show a0001c0001t0001 a0001c0001t0087 a0004c0004t0037 a0004c0004t0095	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0087g0070 a0004c0004t0037g0259 a0004c0004t0037g0260 a0004c0004t0095g0261	8	387	0.0207	32	c.788 others(47): Show c.788+585_788+586insACACACAAACACACACACACACACACACAC AC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907834	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00673.hp2 others(53): Show HG00423.hp1 HG00609.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp2 HG01361.hp1 HG01891.hp1 HG01952.hp2 HG02027.hp2 HG02055.hp1 HG02145.hp2 HG02165.hp1 HG02523.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03654.hp2 HG03834.hp2 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0012 a0014 a0015 a0018 a0025	a0001c0001 a0002c0002 a0002c0020 others(6): Show a0001c0001 a0002c0002 a0002c0020 a0003c0003 a0012c0026 a0014c0022 a0015c0017 a0018c0021 a0025c0027	a0001c0001t0001 a0001c0001t0019 a0001c0001t0024 others(18): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0024 a0001c0001t0073 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0035 a0002c0002t0048 a0002c0002t0049 a0002c0002t0051 a0002c0020t0035 a0003c0003t0016 a0012c0026t0001 a0014c0022t0006 a0015c0017t0033 a0018c0021t0003 a0025c0027t0069	a0001c0001t0001g0073 a0001c0001t0019g0211 a0001c0001t0019g0212 others(51): Show a0001c0001t0001g0073 a0001c0001t0019g0211 a0001c0001t0019g0212 a0001c0001t0024g0367 a0001c0001t0073g0210 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0015 a0002c0002t0003g0016 a0002c0002t0003g0303 a0002c0002t0003g0308 a0002c0002t0003g0310 a0002c0002t0003g0313 a0002c0002t0003g0315 a0002c0002t0003g0320 a0002c0002t0003g0330 a0002c0002t0003g0331 a0002c0002t0003g0333 a0002c0002t0003g0335 a0002c0002t0003g0337 a0002c0002t0003g0342 a0002c0002t0003g0343 a0002c0002t0003g0346 a0002c0002t0003g0349 a0002c0002t0003g0353 a0002c0002t0003g0363 a0002c0002t0003g0364 a0002c0002t0006g0012 a0002c0002t0006g0319 a0002c0002t0006g0321 a0002c0002t0006g0324 a0002c0002t0006g0357 a0002c0002t0006g0365 a0002c0002t0007g0013 a0002c0002t0007g0014 a0002c0002t0007g0015 a0002c0002t0007g0307 a0002c0002t0007g0327 a0002c0002t0007g0328 a0002c0002t0007g0332 a0002c0002t0028g0366 a0002c0002t0029g0362 a0002c0002t0030g0361 a0002c0002t0035g0087 a0002c0002t0048g0325 a0002c0002t0049g0344 a0002c0002t0051g0314 a0002c0020t0035g0088 a0003c0003t0016g0272 a0012c0026t0001g0052 a0014c0022t0006g0309 a0015c0017t0033g0102 a0018c0021t0003g0196 a0025c0027t0069g0255	56	338	0.1657	32	c.788 others(47): Show c.788+585_788+586insACACACACAAACACACACACACACACACAC AC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907836	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0080 a0001c0001t0014g0080	1	290	0.0034	32	c.788 others(47): Show c.788+585_788+586insACACACACACAAACACACACACACACACAC AC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907838	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0061 a0001c0005t0061	a0001c0005t0061g0221 a0001c0005t0061g0221	1	343	0.0029	32	c.788 others(47): Show c.788+585_788+586insACACACACACACAAACACACACACACACAC AC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907863	A A	ACACAAAC others(25): Show ACACAAACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0068 a0001c0001t0014g0068	1	387	0.0026	32	c.788 others(47): Show c.788+593_788+594insACAAACACACACACACACACACACACACAC CC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
EREG_chr4_74360145_74393749	74363493	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 NA19240.hp2 HG02622.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0109 a0001c0001t0007g0222 a0001c0001t0003g0109 a0001c0001t0007g0222	2	102	0.0196	32	c.-18 others(43): Show c.-1816_-1815insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		1651		chr4	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(25): Show ATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	130	0.0077	32	c.83- others(47): Show c.83-3096_83-3095insATATATATATATATGTGTGTGTGTGTGTGT GT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(25): Show ATATATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	130	0.0077	32	c.83- others(47): Show c.83-3096_83-3095insATATATATGTGTGTGTGTGTGTGTGTGTGT GT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(25): Show ATATATATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	130	0.0077	32	c.83- others(47): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGTGTGTGTGTGT GT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893939	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18995.hp1 HG02074.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0252 a0001c0001t0001g0224 a0001c0001t0001g0252	2	280	0.0071	32	c.83- others(47): Show c.83-3048_83-3047insATATATATATATATATGTATATATATATAT AT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(25): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	132	0.0076	32	c.169 others(49): Show c.169+7179_169+7180insAAAAAAAAAAAAAAAAAAAAAAAAACAA AAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	185	0.0054	32	c.101 others(51): Show c.1013-1302_1013-1301insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCCTT others(25): Show CTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	185	0.0054	32	c.101 others(51): Show c.1013-1321_1013-1320insTTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp2 HG01256.hp2 others(30): Show HG00099.hp2 HG01192.hp2 HG01256.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03139.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03927.hp1 HG03927.hp2 HG06807.hp2 NA18747.hp1 NA18960.hp2 NA18992.hp1 NA19030.hp1 NA20752.hp1 NA20805.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0003 a0012c0007 a0001c0001 a0003c0003 a0012c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0003t0001 a0012c0007t0002	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0068 others(30): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0130 a0001c0001t0001g0152 a0001c0001t0001g0228 a0001c0001t0001g0332 a0001c0001t0001g0378 a0001c0001t0001g0418 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0123 a0001c0001t0002g0139 a0001c0001t0002g0155 a0001c0001t0002g0166 a0001c0001t0002g0183 a0001c0001t0002g0312 a0001c0001t0002g0325 a0001c0001t0002g0342 a0001c0001t0002g0356 a0001c0001t0002g0399 a0001c0001t0002g0426 a0001c0001t0002g0427 a0001c0001t0003g0036 a0003c0003t0001g0011 a0003c0003t0001g0080 a0003c0003t0001g0086 a0003c0003t0001g0359 a0012c0007t0002g0137	33	94	0.3511	32	c.101 others(51): Show c.1013-1227_1013-1196dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0142 a0003c0004t0001g0142	1	171	0.0058	32	c.134 others(51): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT ATGTAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp2 others(41): Show HG00423.hp2 HG00438.hp1 HG00609.hp2 HG00621.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp2 HG01433.hp2 HG01884.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02280.hp2 HG02523.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03688.hp2 HG03710.hp2 HG04199.hp2 HG06807.hp2 NA18947.hp2 NA18948.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18969.hp1 NA18973.hp1 NA18978.hp1 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19058.hp2 NA19072.hp2 NA19075.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0011 a0013 a0017 a0019	a0001c0001 a0001c0005 a0002c0002 others(11): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0003c0004 a0003c0006 a0004c0013 a0005c0008 a0006c0007 a0009c0035 a0011c0032 a0013c0022 a0017c0038 a0019c0033	a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 others(12): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0002 a0002c0002t0001 a0002c0003t0001 a0003c0004t0001 a0003c0006t0002 a0004c0013t0002 a0005c0008t0001 a0006c0007t0001 a0009c0035t0001 a0011c0032t0001 a0013c0022t0001 a0017c0038t0002 a0019c0033t0001	a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0037 others(39): Show a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0005t0001g0027 a0001c0005t0002g0002 a0002c0002t0001g0215 a0002c0002t0001g0224 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0245 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0260 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0299 a0002c0003t0001g0186 a0002c0003t0001g0190 a0002c0003t0001g0195 a0003c0004t0001g0162 a0003c0006t0002g0289 a0004c0013t0002g0313 a0005c0008t0001g0328 a0006c0007t0001g0253 a0009c0035t0001g0307 a0011c0032t0001g0305 a0013c0022t0001g0022 a0017c0038t0002g0309 a0019c0033t0001g0203	44	214	0.2056	32	c.134 others(51): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT ATATAT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERO1B_chr1_236210101_236286958	236239809	G G	GTATATAT others(25): Show GTATATATATATGTGTATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp2 HG02723.hp1 others(4): Show HG01884.hp1 HG02280.hp2 HG02723.hp1 HG02818.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0029 a0003c0004t0042 a0003c0004t0013 a0003c0004t0029 a0003c0004t0042	a0003c0004t0013g0116 a0003c0004t0013g0124 a0003c0004t0013g0125 others(3): Show a0003c0004t0013g0116 a0003c0004t0013g0124 a0003c0004t0013g0125 a0003c0004t0013g0194 a0003c0004t0029g0006 a0003c0004t0042g0123	7	287	0.0244	32	c.506 others(49): Show c.506-3412_506-3411insTATATATACATATATATACACATATATA TATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp2 HG01943.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0152 a0001c0001t0005g0195 a0001c0001t0005g0152 a0001c0001t0005g0195	2	68	0.0294	32	c.58- others(47): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESCO2_chr8_27769554_27810316	27802630	A A	AAATATAT others(25): Show AAATATATATATATATATATATATATATATTAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	283	0.0035	32	c.167 others(49): Show c.1674-675_1674-674insATATATATATATATATATATATATATAT TATA	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESR1_chr6_151802682_152108274	151849988	A A	ATATATAT others(25): Show ATATATATATAATTTTATATATATATACAAAAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0207 a0001c0002t0004g0207	1	222	0.0045	32	c.643 others(49): Show c.643+7211_643+7212insATTTTATATATATATACAAAATTATATA TATA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	151849988	A A	ATATATAT others(25): Show ATATATATATAATTTTGTATATATATACAAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02027.hp1 HG02109.hp2 others(23): Show HG00438.hp1 HG02027.hp1 HG02109.hp2 HG02145.hp1 HG02559.hp1 HG02647.hp1 HG02886.hp1 HG03927.hp2 HG04228.hp1 NA18522.hp1 NA18941.hp1 NA18942.hp2 NA18950.hp2 NA18954.hp1 NA18965.hp2 NA18968.hp1 NA18974.hp1 NA18981.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19064.hp2 NA19065.hp1 NA19081.hp2 NA19082.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0003c0015	a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0003 a0001c0003t0006 a0001c0005t0002 a0001c0005t0003 a0001c0005t0006 a0001c0006t0001 a0001c0007t0005 a0003c0015t0007	a0001c0001t0001g0123 a0001c0001t0026g0115 a0001c0002t0001g0134 others(23): Show a0001c0001t0001g0123 a0001c0001t0026g0115 a0001c0002t0001g0134 a0001c0002t0001g0214 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0208 a0001c0002t0002g0215 a0001c0002t0004g0210 a0001c0002t0005g0183 a0001c0002t0005g0219 a0001c0002t0006g0209 a0001c0002t0028g0211 a0001c0003t0003g0114 a0001c0003t0006g0040 a0001c0003t0006g0056 a0001c0005t0002g0202 a0001c0005t0003g0212 a0001c0005t0006g0184 a0001c0006t0001g0187 a0001c0006t0001g0204 a0001c0006t0001g0218 a0001c0006t0001g0220 a0001c0007t0005g0206 a0003c0015t0007g0185	26	247	0.1053	32	c.643 others(49): Show c.643+7211_643+7212insATTTTGTATATATATACAAAATTATATA TATA	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01257.hp2 HG01258.hp1 HG01074.hp2 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0325 a0001c0003t0001g0001 a0001c0003t0001g0325	3	245	0.0122	32	c.-47 others(43): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GGGGTGTG others(25): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03139.hp2 HG01081.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0347 a0001c0003t0001g0348 a0001c0003t0001g0347 a0001c0003t0001g0348	2	24	0.0833	32	c.932 others(47): Show c.932-880_932-879insGGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94668789	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02559.hp1 others(4): Show HG01243.hp1 HG02109.hp1 HG02559.hp1 HG02647.hp1 HG03225.hp1 NA18522.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0185 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0004g0195	7	132	0.0530	32	c.123 others(49): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76454970	T T	TGGTGAGG others(25): Show TGGTGAGGAGTTTGAGACCAGCCTGGCCAACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(61): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp2 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03688.hp2 HG03704.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18942.hp2 NA18953.hp1 NA18954.hp1 NA18961.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA19012.hp1 NA19030.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0001c0014 others(2): Show a0001c0001 a0001c0008 a0001c0014 a0002c0003 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0035 a0001c0008t0005 a0001c0014t0009 a0002c0003t0003 a0002c0003t0004 a0005c0013t0002	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0017 others(60): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0248 a0001c0001t0001g0261 a0001c0001t0001g0313 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0238 a0001c0001t0002g0310 a0001c0001t0003g0018 a0001c0001t0003g0057 a0001c0001t0003g0288 a0001c0001t0005g0217 a0001c0001t0006g0035 a0001c0001t0006g0139 a0001c0001t0006g0203 a0001c0001t0006g0305 a0001c0001t0007g0043 a0001c0001t0007g0126 a0001c0001t0007g0136 a0001c0001t0007g0185 a0001c0001t0007g0314 a0001c0001t0010g0158 a0001c0001t0011g0001 a0001c0001t0013g0142 a0001c0001t0016g0011 a0001c0001t0016g0192 a0001c0001t0017g0024 a0001c0001t0017g0181 a0001c0001t0018g0193 a0001c0001t0020g0124 a0001c0001t0020g0307 a0001c0001t0024g0036 a0001c0001t0025g0198 a0001c0001t0026g0216 a0001c0001t0032g0274 a0001c0001t0035g0093 a0001c0008t0005g0173 a0001c0014t0009g0143 a0002c0003t0003g0116 a0002c0003t0003g0309 a0002c0003t0004g0062 a0005c0013t0002g0161	64	316	0.2025	32	c.461 others(49): Show c.461-7543_461-7512dupCGGTGAGGAGTTTGAGACCAGCCTGGCC AACA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76489445	C C	CCACACAC others(25): Show CCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02148.hp2 HG01099.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0275 a0001c0001t0002g0277	2	30	0.0667	32	c.851 others(49): Show c.851-1998_851-1967dupACACACACACACACACACACACACACAC ACAC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRG_chr1_216498251_216728429	216511547	T T	TCACACAC others(25): Show TCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03491.hp1 HG02735.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0160 a0001c0002t0002g0104 a0001c0002t0002g0160	2	38	0.0526	32	c.113 others(51): Show c.1133-4365_1133-4364insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	226	0.0044	32	c.732 others(47): Show c.732+538_732+539insATATATATATATATATATATATATATTTTT TT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	17	0.0588	32	c.40- others(45): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310369	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20129.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0006g0279 a0001c0001t0006g0280	2	12	0.1667	32	c.39+ others(45): Show c.39+980_39+981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG02300.hp2 HG02486.hp2 others(1): Show HG01256.hp2 HG02300.hp2 HG02486.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0211 others(1): Show a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0211 a0001c0001t0002g0218	4	14	0.2857	32	c.-54 others(41): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETFA_chr15_76210353_76316469	76311947	T T	TTTTTTTT others(25): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	334	0.0030	32	c.-56 others(41): Show c.-560_-559insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		479		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108753749	T T	TAAGAAAG others(25): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	167	0.0060	32	c.502 others(47): Show c.502-770_502-739dupTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	5/12			chr4	TogoVar
ETV3L_chr1_157087043_157104808	157087906	T T	TAGCTTTT others(25): Show TAGCTTTTAACAAAAAAGTTTAAAAAGTAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	462	0.0022	32	c.47 others(43): Show c.4742_*4743insTTATTACTTTTTAAACTTTTTTGTTAAAAGCT	ETV3L	ENSG00000253831.3	transcript	ENST00000454449.3	protein_coding		4136		chr1	TogoVar
ETV6_chr12_11644674_11900377	11669373	T T	TCCTCCCT others(25): Show TCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01255.hp2 others(3): Show HG01081.hp1 HG01099.hp1 HG01255.hp2 HG01256.hp2 HG02257.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0040 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0040 a0001c0002t0005	a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0002g0033 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0002g0033 a0001c0001t0002g0041 a0001c0001t0040g0056 a0001c0002t0005g0042	6	189	0.0317	32	c.33+ others(49): Show c.33+19226_33+19227insATCCCTCCCTCCCTCCCTCCCTCCCTCC CTCC	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETV6_chr12_11644674_11900377	11669373	T T	TCCTCCCT others(25): Show TCCTCCCTTCCTCCCTCCCTCCATCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp1 HG01934.hp1 others(7): Show HG00738.hp1 HG01261.hp1 HG01934.hp1 HG02451.hp2 HG02622.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0019 others(5): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0053 a0001c0001t0058 a0001c0002t0001	a0001c0001t0003g0008 a0001c0001t0008g0089 a0001c0001t0019g0088 others(7): Show a0001c0001t0003g0008 a0001c0001t0008g0089 a0001c0001t0019g0088 a0001c0001t0020g0087 a0001c0001t0025g0256 a0001c0001t0053g0085 a0001c0001t0058g0084 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0237	10	193	0.0518	32	c.33+ others(49): Show c.33+19220_33+19221insTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1A_chr2_75487318_75565939	75555301	A A	ATCTCTCT others(25): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	202	0.0050	32	c.-19 others(51): Show c.-192+5347_-192+5378dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0343 a0001c0001t0004g0343	1	287	0.0035	32	c.-19 others(51): Show c.-192+5343_-192+5344insGGGGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0309 a0001c0001t0004g0309	1	287	0.0035	32	c.-19 others(51): Show c.-192+5343_-192+5344insGGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1B_chr1_36317030_36328645	36325108	T T	TTCCAAAC others(25): Show TTCCAAACACCCTACCCAGCTTACAATCTCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	32	c.-16 others(43): Show c.-1681_-1680insTGAGAGATTGTAAGCTGGGTAGGGTGTTTGGA	EVA1B	ENSG00000142694.7	transcript	ENST00000490466.2	protein_coding		1464		chr1	TogoVar
EVA1C_chr21_32407706_32520387	32503549	A A	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp1 HG01952.hp1 others(12): Show HG00140.hp2 HG01261.hp1 HG01952.hp1 HG01993.hp1 HG02109.hp1 HG02273.hp2 HG02976.hp1 HG03486.hp1 NA18950.hp1 NA18957.hp2 NA18973.hp2 NA18977.hp1 NA18994.hp2 NA19004.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0021	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0021t0001	a0001c0001t0001g0341 a0001c0002t0001g0249 a0001c0004t0001g0140 others(12): Show a0001c0001t0001g0341 a0001c0002t0001g0249 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0233 a0001c0004t0001g0243 a0001c0004t0001g0280 a0001c0005t0001g0066 a0001c0005t0001g0068 a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0072 a0001c0005t0001g0079 a0001c0007t0001g0265 a0001c0021t0001g0342	15	287	0.0523	32	c.860 others(47): Show c.860-358_860-357insTAAATAAATAAATAAATAAATAAATAAATA AA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32503565	T T	TAAATAAA others(25): Show TAAATAAATAAATAAATAAATAAATAAATAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0253 a0001c0002t0001g0253	1	344	0.0029	32	c.860 others(47): Show c.860-358_860-357insTAAATAAATAAATAAATAAATAAATAAAAA AA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0071 a0006c0071	a0006c0071t0001 a0006c0071t0001	a0006c0071t0001g0236 a0006c0071t0001g0236	1	108	0.0093	32	c.114 others(51): Show c.1146-9801_1146-9800insCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5808137	C C	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCTCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02280.hp2 others(2): Show HG01891.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp2 NA20300.hp1	a0006 a0015 a0021 a0006 a0015 a0021	a0006c0012 a0006c0033 a0015c0038 others(1): Show a0006c0012 a0006c0033 a0015c0038 a0021c0061	a0006c0012t0025 a0006c0033t0005 a0015c0038t0005 others(1): Show a0006c0012t0025 a0006c0033t0005 a0015c0038t0005 a0021c0061t0005	a0006c0012t0025g0327 a0006c0033t0005g0199 a0015c0038t0005g0080 others(2): Show a0006c0012t0025g0327 a0006c0033t0005g0199 a0015c0038t0005g0080 a0015c0038t0005g0207 a0021c0061t0005g0197	5	314	0.0159	32	c.256 others(47): Show c.2562-48_2562-47insTCTCCCTTCCTTCCTTCCTCCCTCCCTCCC TC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0008 a0001c0002t0005g0008	1	106	0.0094	32	c.-64 others(41): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084733	A A	AAGAGAGA others(25): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG02970.hp2 HG02809.hp2 HG02895.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0024 a0001c0002t0006g0012 a0001c0002t0006g0028 a0001c0001t0001g0024 a0001c0002t0006g0012 a0001c0002t0006g0028	3	210	0.0143	32	c.-95 others(41): Show c.-958_-957insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		772		chr2	TogoVar
EXD1_chr15_41177728_41235757	41179536	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0201	1	172	0.0058	32	c.43 others(43): Show c.4394_*4395insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3191		chr15	TogoVar
EXD3_chr9_137301896_137428162	137328085	T T	TATGATGA others(25): Show TATGATGAGTAAAAACAACAAGTACACACCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG00741.hp2 others(15): Show HG00099.hp1 HG00741.hp1 HG00741.hp2 HG01975.hp2 HG02004.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03669.hp2 HG04184.hp2 NA19007.hp1 NA19007.hp2 NA19066.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0010 a0012 a0014 a0018 a0019 a0021 a0022 a0026	a0001c0001 a0002c0002 a0003c0003 others(9): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0010c0006 a0012c0011 a0014c0025 a0018c0016 a0019c0033 a0021c0027 a0022c0030 a0026c0035	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(9): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0010c0006t0001 a0012c0011t0001 a0014c0025t0001 a0018c0016t0001 a0019c0033t0001 a0021c0027t0001 a0022c0030t0001 a0026c0035t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0059 others(15): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0071 a0002c0002t0001g0028 a0002c0002t0001g0030 a0003c0003t0001g0037 a0004c0004t0001g0027 a0010c0006t0001g0008 a0010c0006t0001g0047 a0012c0011t0001g0020 a0014c0025t0001g0072 a0018c0016t0001g0019 a0019c0033t0001g0017 a0021c0027t0001g0064 a0022c0030t0001g0015 a0026c0035t0001g0040	18	80	0.2250	32	c.199 others(51): Show c.1999-3943_1999-3942insGTGGGTGTGTACTTGTTGTTTTTACT CATCAT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137328149	C C	CACGATGA others(25): Show CACGATGAGTAAAAACAACTAATATACTCCCAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0030 a0030	a0030c0026 a0030c0026	a0030c0026t0001 a0030c0026t0001	a0030c0026t0001g0033 a0030c0026t0001g0033	1	80	0.0125	32	c.199 others(51): Show c.1999-4007_1999-4006insATGGGAGTATATTAGTTGTTTTTACT CATCGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501373	A A	ATATATTA others(25): Show ATATATTATATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0118 a0001c0002t0002g0118	1	240	0.0042	32	c.238 others(51): Show c.2381-1674_2381-1673insGATATATATAATATATAGATATATAT AATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar

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