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
ERBB4_chr2_211370717_212543802	212474839	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02922.hp2 others(5): Show HG02145.hp2 HG02258.hp1 HG02922.hp2 HG02965.hp1 HG03453.hp2 HG03471.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0047 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0047 a0001c0001t0026g0052 a0001c0001t0028g0053 a0001c0001t0029g0054 a0001c0002t0001g0036 a0001c0002t0001g0048	8	56	0.1429	11	c.82+ others(28): Show c.82+63609_82+63610insCAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212540894	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0053 a0001c0001t0028g0053	1	56	0.0179	11	c.-23 others(22): Show c.-2365_-2364insTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding		2093		chr2	TogoVar
ERBIN_chr5_65921575_66087546	65964945	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0163 a0001c0007t0010g0164 a0001c0007t0010g0163 a0001c0007t0010g0164	2	306	0.0065	11	c.-57 others(30): Show c.-57-23690_-57-23689insGTGTGTGTGTG	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25			chr5	TogoVar
ERBIN_chr5_65921575_66087546	65965382	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18972.hp1 HG00408.hp2 NA18972.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0175 a0002c0003t0008g0280 a0002c0003t0008g0175 a0002c0003t0008g0280	2	306	0.0065	11	c.-57 others(30): Show c.-57-23222_-57-23212dupTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65965559	C C	CATGCCTG others(4): Show CATGCCTGGCTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(185): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(11): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0014 a0015 a0018 a0019	a0001c0001 a0001c0023 a0001c0024 others(17): Show a0001c0001 a0001c0023 a0001c0024 a0001c0025 a0003c0004 a0003c0028 a0004c0005 a0004c0014 a0004c0018 a0005c0006 a0006c0008 a0007c0011 a0008c0012 a0011c0017 a0012c0026 a0013c0027 a0014c0020 a0015c0022 a0018c0013 a0019c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(34): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0023t0001 a0001c0024t0001 a0001c0025t0009 a0003c0004t0001 a0003c0004t0017 a0003c0004t0021 a0003c0004t0023 a0003c0004t0026 a0003c0004t0027 a0003c0028t0001 a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 a0004c0018t0004 a0005c0006t0002 a0005c0006t0007 a0005c0006t0015 a0005c0006t0016 a0006c0008t0003 a0007c0011t0011 a0008c0012t0011 a0011c0017t0007 a0012c0026t0001 a0013c0027t0022 a0014c0020t0001 a0015c0022t0001 a0018c0013t0001 a0019c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(185): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0003g0113 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0013g0100 a0001c0001t0013g0124 a0001c0001t0013g0125 a0001c0001t0014g0070 a0001c0001t0014g0071 a0001c0001t0020g0142 a0001c0001t0024g0158 a0001c0001t0028g0092 a0001c0023t0001g0117 a0001c0024t0001g0101 a0001c0025t0009g0035 a0003c0004t0001g0001 a0003c0004t0001g0089 a0003c0004t0001g0094 a0003c0004t0001g0105 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0122 a0003c0004t0001g0127 a0003c0004t0001g0128 a0003c0004t0001g0130 a0003c0004t0001g0131 a0003c0004t0001g0132 a0003c0004t0001g0134 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0140 a0003c0004t0001g0141 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0302 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0017g0121 a0003c0004t0021g0303 a0003c0004t0023g0304 a0003c0004t0026g0301 a0003c0004t0027g0139 a0003c0028t0001g0143 a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0013 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0019 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0027 a0004c0005t0025g0012 a0004c0014t0004g0018 a0004c0018t0004g0011 a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 a0005c0006t0007g0221 a0005c0006t0007g0222 a0005c0006t0007g0223 a0005c0006t0007g0224 a0005c0006t0007g0226 a0005c0006t0007g0227 a0005c0006t0007g0230 a0005c0006t0015g0225 a0005c0006t0016g0299 a0006c0008t0003g0084 a0007c0011t0011g0024 a0007c0011t0011g0025 a0008c0012t0011g0022 a0008c0012t0011g0023 a0011c0017t0007g0228 a0012c0026t0001g0087 a0013c0027t0022g0146 a0014c0020t0001g0049 a0015c0022t0001g0055 a0018c0013t0001g0062 a0019c0021t0001g0088	188	306	0.6144	11	c.-57 others(30): Show c.-57-23074_-57-23073insGCCTGGCTAAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65987394	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	306	0.0033	11	c.-57 others(28): Show c.-57-1240_-57-1239insACACACACACC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1060175	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0113 a0001c0001t0020g0113	1	162	0.0062	11	c.670 others(30): Show c.670-22979_670-22978insTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1065480	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18612.hp1 NA18612.hp2 HG01106.hp2 NA18612.hp1 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0001c0001t0125 a0002c0002t0105 a0001c0001t0011 a0001c0001t0125 a0002c0002t0105	a0001c0001t0011g0034 a0001c0001t0125g0033 a0002c0002t0105g0148 a0001c0001t0011g0034 a0001c0001t0125g0033 a0002c0002t0105g0148	3	162	0.0185	11	c.670 others(30): Show c.670-17684_670-17683insGTGTGTGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1126986	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01993.hp1 HG01993.hp2 others(5): Show HG01261.hp1 HG01993.hp1 HG01993.hp2 HG02615.hp1 NA18966.hp2 NA19090.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0021 a0001c0001t0029 others(5): Show a0001c0001t0019 a0001c0001t0021 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0001t0083 a0001c0001t0090 a0001c0001t0132	a0001c0001t0019g0120 a0001c0001t0021g0116 a0001c0001t0029g0160 others(5): Show a0001c0001t0019g0120 a0001c0001t0021g0116 a0001c0001t0029g0160 a0001c0001t0031g0118 a0001c0001t0034g0161 a0001c0001t0083g0130 a0001c0001t0090g0032 a0001c0001t0132g0103	8	162	0.0494	11	c.156 others(32): Show c.1569+10970_1569+10980dupAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1146314	T T	TTTTTGTT others(4): Show TTTTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02258.hp2 HG02559.hp1 HG01358.hp2 HG02258.hp2 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0085 a0002c0002t0139 a0002c0002t0039 a0002c0002t0085 a0002c0002t0139	a0002c0002t0039g0151 a0002c0002t0085g0142 a0002c0002t0139g0096 a0002c0002t0039g0151 a0002c0002t0085g0142 a0002c0002t0139g0096	3	162	0.0185	11	c.173 others(30): Show c.1737+4531_1737+4532insGTTGTTGTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1225449	T T	TAAAACAC others(4): Show TAAAACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG03516.hp2 others(2): Show HG02559.hp2 HG02615.hp1 HG03516.hp2 HG03654.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0013 a0001c0001t0019 a0001c0001t0133 others(2): Show a0001c0001t0013 a0001c0001t0019 a0001c0001t0133 a0002c0002t0002 a0002c0007t0059	a0001c0001t0013g0015 a0001c0001t0019g0120 a0001c0001t0133g0094 others(2): Show a0001c0001t0013g0015 a0001c0001t0019g0120 a0001c0001t0133g0094 a0002c0002t0002g0091 a0002c0007t0059g0071	5	162	0.0309	11	c.235 others(32): Show c.2352-11319_2352-11318insAAACACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1255621	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0041 a0001c0001t0005g0041	1	162	0.0062	11	c.248 others(30): Show c.2488-7394_2488-7384dupTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1303955	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG04199.hp1 NA20129.hp2 others(1): Show HG02622.hp2 HG04199.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0130 a0001c0003t0022 a0001c0003t0088 others(1): Show a0001c0001t0130 a0001c0003t0022 a0001c0003t0088 a0001c0003t0092	a0001c0001t0130g0102 a0001c0003t0022g0114 a0001c0003t0088g0021 others(1): Show a0001c0001t0130g0102 a0001c0003t0022g0114 a0001c0003t0088g0021 a0001c0003t0092g0004	4	162	0.0247	11	c.278 others(32): Show c.2780+13948_2780+13958dupAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1304779	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18966.hp2 NA20905.hp1 HG02145.hp2 NA18966.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0008 a0001c0001 a0001c0003 a0006c0008	a0001c0001t0034 a0001c0003t0088 a0006c0008t0041 a0001c0001t0034 a0001c0003t0088 a0006c0008t0041	a0001c0001t0034g0161 a0001c0003t0088g0021 a0006c0008t0041g0140 a0001c0001t0034g0161 a0001c0003t0088g0021 a0006c0008t0041g0140	3	162	0.0185	11	c.278 others(32): Show c.2780+14785_2780+14795dupTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1341069	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0027 a0001c0001t0014g0027	1	162	0.0062	11	c.278 others(32): Show c.2781-30732_2781-30722dupTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1345187	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG03654.hp1 others(2): Show HG01081.hp1 HG02257.hp1 HG03654.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0050 a0001c0003t0022 a0001c0003t0046 others(2): Show a0001c0001t0050 a0001c0003t0022 a0001c0003t0046 a0002c0002t0064 a0002c0002t0099	a0001c0001t0050g0144 a0001c0003t0022g0114 a0001c0003t0046g0088 others(2): Show a0001c0001t0050g0144 a0001c0003t0022g0114 a0001c0003t0046g0088 a0002c0002t0064g0069 a0002c0002t0099g0131	5	162	0.0309	11	c.278 others(32): Show c.2781-26645_2781-26635dupTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1346948	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00738.hp1 others(34): Show HG00408.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp2 HG02258.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp1 HG03516.hp1 HG04199.hp2 NA18612.hp2 NA18966.hp2 NA18982.hp2 NA19030.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0003c0004 a0009c0009	a0001c0001t0003 a0001c0001t0011 a0001c0001t0019 others(34): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0056 a0001c0001t0057 a0001c0001t0061 a0001c0001t0067 a0001c0001t0083 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0091 a0001c0001t0103 a0001c0001t0120 a0001c0001t0132 a0002c0002t0005 a0002c0002t0018 a0002c0002t0047 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0089 a0002c0002t0100 a0002c0006t0051 a0003c0004t0003 a0003c0004t0009 a0003c0004t0096 a0009c0009t0025	a0001c0001t0003g0029 a0001c0001t0011g0034 a0001c0001t0019g0120 others(34): Show a0001c0001t0003g0029 a0001c0001t0011g0034 a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0028g0129 a0001c0001t0030g0109 a0001c0001t0031g0118 a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0001t0056g0085 a0001c0001t0057g0156 a0001c0001t0061g0153 a0001c0001t0067g0121 a0001c0001t0083g0130 a0001c0001t0086g0060 a0001c0001t0087g0046 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0103g0132 a0001c0001t0120g0024 a0001c0001t0132g0103 a0002c0002t0005g0133 a0002c0002t0018g0117 a0002c0002t0047g0104 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0089g0037 a0002c0002t0100g0134 a0002c0006t0051g0081 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0096g0063 a0009c0009t0025g0110	37	162	0.2284	11	c.278 others(32): Show c.2781-24882_2781-24872dupAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1356212	A A	AGTGTGTG others(4): Show AGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0042 a0001c0001t0001 a0002c0002t0042	a0001c0001t0001g0076 a0002c0002t0042g0079 a0001c0001t0001g0076 a0002c0002t0042g0079	2	162	0.0124	11	c.278 others(32): Show c.2781-15621_2781-15620insGTGTGTGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1386651	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0066 a0001c0001t0045g0066	1	162	0.0062	11	c.292 others(32): Show c.2925+14678_2925+14688dupAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1485197	A A	ATTTATCT others(4): Show ATTTATCTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0099 a0002c0002t0099	a0002c0002t0099g0131 a0002c0002t0099g0131	1	162	0.0062	11	c.321 others(30): Show c.3214-4893_3214-4892insATCTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1487539	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01109.hp1 others(9): Show HG00639.hp2 HG01106.hp2 HG01109.hp1 HG01256.hp1 HG01257.hp1 HG01891.hp2 HG02735.hp2 HG02896.hp2 HG03209.hp1 HG03516.hp2 HG03669.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0007 others(1): Show a0001c0001 a0002c0002 a0002c0007 a0005c0010	a0001c0001t0015 a0001c0001t0058 a0001c0001t0097 others(8): Show a0001c0001t0015 a0001c0001t0058 a0001c0001t0097 a0001c0001t0126 a0002c0002t0048 a0002c0002t0080 a0002c0002t0104 a0002c0002t0105 a0002c0002t0140 a0002c0007t0059 a0005c0010t0082	a0001c0001t0015g0023 a0001c0001t0015g0038 a0001c0001t0058g0141 others(9): Show a0001c0001t0015g0023 a0001c0001t0015g0038 a0001c0001t0058g0141 a0001c0001t0097g0031 a0001c0001t0126g0030 a0002c0002t0048g0070 a0002c0002t0080g0127 a0002c0002t0104g0043 a0002c0002t0105g0148 a0002c0002t0140g0108 a0002c0007t0059g0071 a0005c0010t0082g0126	12	162	0.0741	11	c.321 others(30): Show c.3214-2548_3214-2547insAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493540	A A	ATATATAT others(4): Show ATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0008 a0001c0001t0093g0008	1	162	0.0062	11	c.33 others(22): Show c.3310_*3311insTATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3311		chr12	TogoVar
ERC1_chr12_986223_1500931	1493546	A A	ATATATAT others(4): Show ATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0092 a0001c0003t0092	a0001c0003t0092g0004 a0001c0003t0092g0004	1	162	0.0062	11	c.33 others(22): Show c.3316_*3317insTATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3317		chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAAATAT others(4): Show AAAAATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0016 a0001c0001t0094g0016	1	162	0.0062	11	c.33 others(22): Show c.3319_*3320insAAATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	ATATATAT others(4): Show ATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0096 a0003c0004t0096	a0003c0004t0096g0063 a0003c0004t0096g0063	1	162	0.0062	11	c.33 others(22): Show c.3318_*3319insTATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3319		chr12	TogoVar
ERC2_chr3_55503311_56473467	55539415	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18962.hp1 HG02040.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0032 a0001c0001t0005g0071 a0001c0001t0002g0032 a0001c0001t0005g0071	2	74	0.0270	11	c.40 others(30): Show c.40-28150_*40-28140dupAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55729837	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01934.hp1 HG02040.hp1 others(4): Show HG01109.hp1 HG01934.hp1 HG02040.hp1 HG02738.hp1 HG02970.hp2 NA18962.hp1 NA19030.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0006 a0001c0001 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0003c0005t0003 a0004c0006t0004	a0001c0001t0001g0041 a0001c0001t0004g0022 a0001c0001t0005g0071 others(4): Show a0001c0001t0001g0041 a0001c0001t0004g0022 a0001c0001t0005g0071 a0001c0001t0008g0030 a0001c0001t0012g0023 a0003c0005t0003g0065 a0004c0006t0004g0060	7	74	0.0946	11	c.271 others(30): Show c.2712+4923_2712+4933dupTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55810465	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02258.hp2 HG02486.hp2 others(2): Show HG01167.hp2 HG02258.hp2 HG02486.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0002t0004	a0001c0001t0001g0035 a0001c0001t0002g0021 a0001c0001t0006g0026 others(2): Show a0001c0001t0001g0035 a0001c0001t0002g0021 a0001c0001t0006g0026 a0001c0001t0012g0023 a0001c0002t0004g0001	5	74	0.0676	11	c.256 others(32): Show c.2565-75558_2565-75548dupAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55834804	A A	AAATTAAT others(4): Show AAATTAATGAAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01069.hp2 others(48): Show HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01346.hp1 HG01934.hp2 HG02040.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG06807.hp1 NA18962.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0013 a0001c0004t0001 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(48): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0069 a0001c0001t0004g0022 a0001c0001t0005g0053 a0001c0001t0005g0063 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0007g0002 a0001c0001t0007g0024 a0001c0001t0009g0073 a0001c0001t0010g0045 a0001c0001t0011g0047 a0001c0001t0012g0023 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0042 a0001c0002t0002g0016 a0001c0002t0004g0001 a0001c0002t0013g0074 a0001c0004t0001g0028 a0002c0003t0001g0039 a0002c0003t0003g0025 a0002c0003t0003g0056	51	74	0.6892	11	c.256 others(32): Show c.2564+53584_2564+53585insATTCATTAATT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55920446	A A	ACACACAC others(4): Show ACACACACCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG06807.hp1 HG02486.hp2 HG03098.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004	a0001c0001t0009g0073 a0001c0002t0002g0016 a0001c0002t0004g0001 a0001c0001t0009g0073 a0001c0002t0002g0016 a0001c0002t0004g0001	3	74	0.0405	11	c.240 others(32): Show c.2403+29978_2403+29979insGGGGGTGTGTG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	13/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55952176	C C	CTATATAT others(4): Show CTATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	74	0.0135	11	c.226 others(30): Show c.2268-1617_2268-1616insATATATATATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56276459	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0018	1	74	0.0135	11	c.107 others(32): Show c.1074+19549_1074+19559dupTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45409895	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0199 a0001c0001t0026g0199	1	420	0.0024	11	c.844 others(26): Show c.844-181_844-171dupAAAAAAAAAAA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC1_chr19_45402334_45428917	45428083	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0034 a0001c0003t0005g0034	1	420	0.0024	11	c.-43 others(22): Show c.-4321_-4311dupAAAAAAAAAAA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding		4167		chr19	TogoVar
ERCC5_chr13_102841032_102880995	102846666	G G	GCCGAATG others(4): Show GCCGAATGCAAT	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0022 a0022	a0022c0030 a0022c0030	a0022c0030t0002 a0022c0030t0002	a0022c0030t0002g0061 a0022c0030t0002g0061	1	394	0.0025	11	c.88+ others(24): Show c.88+313_88+323dupCCGAATGCAAT	ERCC5	ENSG00000134899.24	transcript	ENST00000652225.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
ERCC5_chr13_102841032_102880995	102871297	T T	TCTTGAGC others(4): Show TCTTGAGCAGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0143 a0002c0002t0002g0143	1	394	0.0025	11	c.267 others(28): Show c.2679-901_2679-900insCTTGAGCAGGG	ERCC5	ENSG00000134899.24	transcript	ENST00000652225.2	protein_coding	12/14			chr13	TogoVar
ERCC6L2_chr9_95870691_96023447	95952166	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(167): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18978.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0007 a0008 a0013 a0019 a0020 a0022 a0023 a0025 a0026 a0027	a0001c0001 a0001c0005 a0002c0002 others(13): Show a0001c0001 a0001c0005 a0002c0002 a0002c0020 a0004c0004 a0005c0006 a0007c0008 a0008c0010 a0013c0016 a0019c0022 a0020c0013 a0022c0028 a0023c0024 a0025c0026 a0026c0021 a0027c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0036 a0001c0001t0047 a0001c0001t0057 a0001c0001t0061 a0001c0001t0071 a0001c0001t0074 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0092 a0001c0005t0009 a0001c0005t0072 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0035 a0002c0002t0048 a0002c0002t0051 a0002c0020t0035 a0004c0004t0005 a0004c0004t0013 a0004c0004t0076 a0005c0006t0017 a0007c0008t0023 a0007c0008t0066 a0008c0010t0001 a0013c0016t0001 a0019c0022t0003 a0020c0013t0079 a0022c0028t0084 a0023c0024t0046 a0025c0026t0001 a0026c0021t0044 a0027c0025t0049	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(158): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0002g0004 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0004g0109 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0130 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0010g0106 a0001c0001t0010g0113 a0001c0001t0010g0115 a0001c0001t0010g0116 a0001c0001t0010g0117 a0001c0001t0010g0118 a0001c0001t0010g0203 a0001c0001t0014g0001 a0001c0001t0014g0039 a0001c0001t0014g0042 a0001c0001t0015g0006 a0001c0001t0019g0210 a0001c0001t0019g0212 a0001c0001t0019g0213 a0001c0001t0019g0215 a0001c0001t0024g0369 a0001c0001t0025g0058 a0001c0001t0025g0096 a0001c0001t0025g0097 a0001c0001t0026g0002 a0001c0001t0027g0142 a0001c0001t0027g0143 a0001c0001t0027g0372 a0001c0001t0031g0110 a0001c0001t0031g0111 a0001c0001t0036g0037 a0001c0001t0036g0054 a0001c0001t0047g0121 a0001c0001t0057g0114 a0001c0001t0061g0119 a0001c0001t0071g0214 a0001c0001t0074g0208 a0001c0001t0081g0038 a0001c0001t0082g0098 a0001c0001t0083g0067 a0001c0001t0085g0064 a0001c0001t0087g0068 a0001c0001t0088g0120 a0001c0001t0090g0144 a0001c0001t0092g0373 a0001c0005t0009g0225 a0001c0005t0009g0242 a0001c0005t0072g0231 a0002c0002t0003g0012 a0002c0002t0003g0014 a0002c0002t0003g0303 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0318 a0002c0002t0003g0320 a0002c0002t0003g0323 a0002c0002t0003g0330 a0002c0002t0003g0335 a0002c0002t0003g0342 a0002c0002t0003g0344 a0002c0002t0003g0345 a0002c0002t0003g0347 a0002c0002t0003g0348 a0002c0002t0003g0349 a0002c0002t0003g0350 a0002c0002t0003g0351 a0002c0002t0003g0353 a0002c0002t0003g0354 a0002c0002t0003g0355 a0002c0002t0003g0356 a0002c0002t0003g0357 a0002c0002t0003g0358 a0002c0002t0003g0360 a0002c0002t0006g0306 a0002c0002t0006g0321 a0002c0002t0006g0324 a0002c0002t0006g0334 a0002c0002t0006g0343 a0002c0002t0006g0367 a0002c0002t0007g0012 a0002c0002t0007g0013 a0002c0002t0007g0307 a0002c0002t0007g0327 a0002c0002t0007g0328 a0002c0002t0007g0332 a0002c0002t0028g0329 a0002c0002t0028g0368 a0002c0002t0029g0362 a0002c0002t0030g0361 a0002c0002t0035g0085 a0002c0002t0048g0325 a0002c0002t0051g0314 a0002c0020t0035g0086 a0004c0004t0005g0248 a0004c0004t0013g0234 a0004c0004t0076g0206 a0005c0006t0017g0018 a0005c0006t0017g0020 a0005c0006t0017g0021 a0007c0008t0023g0293 a0007c0008t0023g0294 a0007c0008t0023g0295 a0007c0008t0066g0296 a0008c0010t0001g0046 a0008c0010t0001g0069 a0013c0016t0001g0084 a0019c0022t0003g0196 a0020c0013t0079g0099 a0022c0028t0084g0035 a0023c0024t0046g0274 a0025c0026t0001g0070 a0026c0021t0044g0322 a0027c0025t0049g0346	170	392	0.4337	11	c.184 others(30): Show c.1848-3739_1848-3729dupAAAAAAAAAAA	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6_chr10_49449470_49544121	49526117	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0255 a0007c0011t0001g0255	1	388	0.0026	11	c.653 others(28): Show c.653-1341_653-1340insTATATATATAT	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526117	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0176 a0001c0007t0001g0176	1	402	0.0025	11	c.653 others(28): Show c.653-1341_653-1340insTATATATATAT	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC8_chr5_60861454_60950070	60870482	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01258.hp2 HG01517.hp1 HG01258.hp2 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0010 a0001c0003t0026g0011 a0001c0003t0026g0010 a0001c0003t0026g0011	2	302	0.0066	11	c.41 others(22): Show c.4122_*4132dupTTTTTTTTTTT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	12/12	4132		chr5	TogoVar
ERCC8_chr5_60861454_60950070	60885039	A A	ACAGGTGA others(4): Show ACAGGTGACTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG02970.hp2 others(1): Show HG01109.hp1 HG01167.hp1 HG02970.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0018 a0001c0001t0015 a0001c0001t0018	a0001c0001t0015g0259 a0001c0001t0015g0260 a0001c0001t0015g0261 others(1): Show a0001c0001t0015g0259 a0001c0001t0015g0260 a0001c0001t0015g0261 a0001c0001t0018g0270	4	302	0.0133	11	c.112 others(30): Show c.1122+2400_1122+2401insATAGTCACCTG	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	11/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60909243	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02258.hp2 others(10): Show HG01884.hp2 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02622.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG03195.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0027 others(2): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0027 a0001c0001t0082 a0001c0001t0083	a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0031 others(9): Show a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0031 a0001c0001t0007g0035 a0001c0001t0010g0002 a0001c0001t0010g0017 a0001c0001t0010g0026 a0001c0001t0010g0030 a0001c0001t0010g0033 a0001c0001t0027g0256 a0001c0001t0082g0014 a0001c0001t0083g0027	13	302	0.0431	11	c.400 others(28): Show c.400-4381_400-4371dupTTTTTTTTTTT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	4/11			chr5	TogoVar
EREG_chr4_74360145_74393749	74363493	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01168.hp2 others(24): Show HG00642.hp2 HG01109.hp1 HG01168.hp2 HG01243.hp1 HG02559.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03139.hp2 HG03239.hp2 HG03490.hp1 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18947.hp1 NA18962.hp2 NA18980.hp1 NA19043.hp1 NA19043.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0025 a0001c0002t0026 a0001c0002t0032 a0004c0006t0030	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 others(23): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0131 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0004g0018 a0001c0001t0004g0116 a0001c0001t0004g0132 a0001c0001t0004g0151 a0001c0001t0004g0157 a0001c0001t0004g0175 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0207 a0001c0001t0006g0155 a0001c0001t0006g0163 a0001c0001t0012g0018 a0001c0001t0012g0197 a0001c0001t0014g0032 a0001c0001t0025g0036 a0001c0002t0026g0114 a0001c0002t0032g0185 a0004c0006t0030g0001	27	358	0.0754	11	c.-18 others(22): Show c.-1816_-1815insTTTTTTTTTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		1651		chr4	TogoVar
EREG_chr4_74360145_74393749	74381984	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0105 a0003c0003t0011g0105	1	358	0.0028	11	c.279 others(26): Show c.279-645_279-635dupAAAAAAAAAAA	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
ERF_chr19_42242569_42260128	42253778	A A	ATGGGAAT others(4): Show ATGGGAATGGGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0027 a0001c0004t0001g0027	1	268	0.0037	11	c.22+ others(26): Show c.22+1189_22+1199dupCCCCATTCCCA	ERF	ENSG00000105722.10	transcript	ENST00000222329.9	protein_coding	1/3			chr19	TogoVar
ERF_chr19_42242569_42260128	42259962	T T	TGGGGGGG others(4): Show TGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0021 a0001c0008t0001g0021	1	268	0.0037	11	c.-49 others(22): Show c.-4964_-4963insCCCCCCCCCCC	ERF	ENSG00000105722.10	transcript	ENST00000222329.9	protein_coding		4835		chr19	TogoVar
ERG28_chr14_75644791_75665876	75655882	C C	CCTTACTT others(4): Show CCTTACTTTGCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	420	0.0024	11	c.134 others(26): Show c.134-907_134-906insAGCAAAGTAAG	ERG28	ENSG00000133935.7	transcript	ENST00000256319.7	protein_coding	2/4			chr14	TogoVar
ERGIC1_chr5_172829251_172957683	172829941	C C	CTTTCTAT others(4): Show CTTTCTATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02027.hp2 HG02055.hp1 others(7): Show HG00280.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02559.hp1 HG02886.hp1 HG03098.hp2 NA18953.hp2 NA18977.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034	a0001c0001t0001g0103 a0001c0001t0001g0143 a0001c0001t0001g0166 others(7): Show a0001c0001t0001g0103 a0001c0001t0001g0143 a0001c0001t0001g0166 a0001c0001t0002g0093 a0001c0001t0003g0310 a0001c0001t0004g0175 a0001c0001t0031g0083 a0001c0001t0032g0084 a0001c0001t0033g0085 a0001c0001t0034g0086	10	334	0.0299	11	c.-44 others(22): Show c.-4473_-4472insTTTCTATTTTT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding		4309		chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908318	G G	GGGGGGGG others(4): Show GGGGGGGGCGGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02559.hp1 others(1): Show HG01952.hp2 HG02055.hp2 HG02559.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 a0001c0001t0001 a0001c0001t0002 a0001c0001t0032	a0001c0001t0001g0143 a0001c0001t0001g0266 a0001c0001t0002g0200 others(1): Show a0001c0001t0001g0143 a0001c0001t0001g0266 a0001c0001t0002g0200 a0001c0001t0032g0084	4	334	0.0120	11	c.156 others(28): Show c.156-1349_156-1348insGGGGGGGCGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(4): Show AGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	334	0.0030	11	c.156 others(28): Show c.156-1332_156-1331insGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

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