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
ERBIN_chr5_65921575_66087546	65977958	G G	GGGGAGAG others(11): Show GGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01261.hp1 HG01934.hp2 others(10): Show HG01071.hp2 HG01261.hp1 HG01934.hp2 HG02257.hp1 HG02280.hp1 HG02647.hp1 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG03209.hp1 NA19003.hp2 NA19007.hp2 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0006 a0001c0001 a0002c0003 a0005c0006	a0001c0001t0001 a0002c0003t0003 a0005c0006t0002 others(1): Show a0001c0001t0001 a0002c0003t0003 a0005c0006t0002 a0005c0006t0007	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0133 a0001c0001t0001g0231 a0001c0001t0001g0273 a0002c0003t0003g0168 a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 a0005c0006t0007g0227	13	306	0.0425	18	c.-57 others(37): Show c.-57-10665_-57-10648dupAGGGAGAGGGAGAGGGAG	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65987367	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01167.hp1 others(28): Show HG00280.hp1 HG00735.hp1 HG01167.hp1 HG01257.hp2 HG01515.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02647.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03540.hp1 HG04228.hp1 NA18747.hp1 NA18948.hp1 NA18954.hp2 NA18972.hp2 NA18989.hp2 NA19003.hp2 NA19012.hp1 NA19064.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0001c0007 a0001c0020 others(3): Show a0001c0001 a0001c0007 a0001c0020 a0001c0021 a0003c0004 a0014c0018	a0001c0001t0001 a0001c0001t0028 a0001c0007t0010 others(5): Show a0001c0001t0001 a0001c0001t0028 a0001c0007t0010 a0001c0020t0001 a0001c0021t0001 a0003c0004t0001 a0003c0004t0026 a0014c0018t0001	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0042 others(28): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0231 a0001c0001t0028g0092 a0001c0007t0010g0161 a0001c0020t0001g0117 a0001c0021t0001g0101 a0003c0004t0001g0001 a0003c0004t0001g0105 a0003c0004t0001g0115 a0003c0004t0001g0128 a0003c0004t0001g0130 a0003c0004t0001g0132 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0026g0301 a0014c0018t0001g0049	31	306	0.1013	18	c.-57 others(35): Show c.-57-1257_-57-1240dupACACACACACACACACAC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66051907	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp1 HG02896.hp2 others(1): Show HG02109.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0162 a0001c0007t0010g0163 a0001c0007t0010g0164 others(1): Show a0001c0007t0010g0162 a0001c0007t0010g0163 a0001c0007t0010g0164 a0001c0007t0010g0165	4	306	0.0131	18	c.208 others(35): Show c.2087+942_2087+943insAAAAAAAAAAAAAAAAGA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	20/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	991247	C C	CGGCGGCG others(11): Show CGGCGGCGGCGGCGGCAGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00741.hp1 others(15): Show HG00323.hp2 HG00639.hp1 HG00741.hp1 HG01109.hp2 HG01361.hp2 HG01515.hp2 HG01993.hp2 HG02129.hp1 HG02155.hp2 HG02615.hp1 HG02647.hp2 NA18966.hp2 NA18982.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0009c0009	a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 others(15): Show a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0003t0022 a0002c0002t0017 a0002c0002t0018 a0002c0002t0026 a0009c0009t0025	a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 others(15): Show a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0027g0119 a0001c0001t0028g0129 a0001c0001t0029g0160 a0001c0001t0030g0109 a0001c0001t0031g0118 a0001c0001t0032g0159 a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0003t0022g0114 a0002c0002t0017g0097 a0002c0002t0018g0117 a0002c0002t0026g0115 a0009c0009t0025g0110	18	162	0.1111	18	c.-21 others(27): Show c.-218_-217insCAGTGGCGGCGGCGGCGG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/19	36642	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	991247	C C	CGGCGGCG others(11): Show CGGCGGCGGCGGCGGTAGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01175.hp2 others(48): Show HG00140.hp1 HG00140.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG06807.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0013 others(6): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0006 a0002c0007 a0006c0008 a0007c0012 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(42): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0074 a0001c0003t0046 a0001c0013t0063 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0038 a0002c0002t0039 a0002c0002t0042 a0002c0002t0047 a0002c0002t0048 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0060 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0070 a0002c0002t0072 a0002c0002t0075 a0002c0002t0076 a0002c0006t0051 a0002c0007t0059 a0006c0008t0041 a0007c0012t0073 a0008c0011t0044	a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0004g0075 others(48): Show a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0005g0041 a0001c0001t0040g0150 a0001c0001t0043g0084 a0001c0001t0045g0066 a0001c0001t0049g0157 a0001c0001t0050g0144 a0001c0001t0056g0085 a0001c0001t0057g0156 a0001c0001t0058g0141 a0001c0001t0061g0153 a0001c0001t0062g0147 a0001c0001t0067g0121 a0001c0001t0068g0083 a0001c0001t0069g0092 a0001c0001t0071g0074 a0001c0001t0074g0039 a0001c0003t0046g0088 a0001c0013t0063g0077 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0005g0133 a0002c0002t0038g0082 a0002c0002t0039g0151 a0002c0002t0042g0079 a0002c0002t0047g0104 a0002c0002t0048g0070 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0060g0040 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0066g0139 a0002c0002t0070g0138 a0002c0002t0072g0145 a0002c0002t0075g0073 a0002c0002t0076g0146 a0002c0006t0051g0081 a0002c0007t0059g0071 a0006c0008t0041g0140 a0007c0012t0073g0067 a0008c0011t0044g0068	51	162	0.3148	18	c.-21 others(27): Show c.-216_-199dupAGTGGCGGCGGCGGCGGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/19	36623	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1007516	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0086	1	162	0.0062	18	c.-15 others(39): Show c.-157+16202_-157+16219dupCTCTCTCTCTCTCTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1007540	C C	CTCTCTCT others(11): Show CTCTCTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	162	0.0062	18	c.-15 others(39): Show c.-157+16219_-157+16220insCTCTCTCTGTGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1007540	C C	CTCTCTGT others(11): Show CTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0073 a0007c0012t0073	a0007c0012t0073g0067 a0007c0012t0073g0067	1	162	0.0062	18	c.-15 others(39): Show c.-157+16219_-157+16220insCTCTGTGTGTGTGTGTGT	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(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp1 HG03516.hp2 others(2): Show HG02647.hp2 HG02809.hp1 HG03516.hp2 NA18612.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0125 a0002c0002t0017 a0002c0002t0065 others(2): Show a0001c0001t0125 a0002c0002t0017 a0002c0002t0065 a0002c0002t0075 a0002c0007t0059	a0001c0001t0125g0033 a0002c0002t0017g0097 a0002c0002t0065g0072 others(2): Show a0001c0001t0125g0033 a0002c0002t0017g0097 a0002c0002t0065g0072 a0002c0002t0075g0073 a0002c0007t0059g0071	5	162	0.0309	18	c.108 others(39): Show c.1086+10388_1086+10405dupTATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121647	A A	ATCTCTAT others(11): Show ATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0046 a0001c0001t0087g0046	1	162	0.0062	18	c.156 others(37): Show c.1569+5629_1569+5630insGTGTCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121653	A A	ATCTCTAT others(11): Show ATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0089	a0002c0002t0089g0037 a0002c0002t0089g0037	1	162	0.0062	18	c.156 others(37): Show c.1569+5635_1569+5636insGTGTCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121825	G G	GTCTCTAT others(11): Show GTCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0079 a0002c0002t0079	a0002c0002t0079g0124 a0002c0002t0079g0124	1	162	0.0062	18	c.156 others(37): Show c.1569+5807_1569+5808insCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121937	A A	ATCTCTAT others(11): Show ATCTCTATCTCTATCTATC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0053 a0003c0004t0010g0053	1	162	0.0062	18	c.156 others(37): Show c.1569+5907_1569+5908insCTATCTCTATCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122095	C C	CTATCTCT others(11): Show CTATCTCTATCTCTATCTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19030.hp2 HG02280.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0111 a0001c0001t0110 a0001c0001t0111	a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0110g0013 a0001c0001t0111g0017	2	162	0.0124	18	c.156 others(37): Show c.1569+6079_1569+6080insGTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122127	G G	GTCTCTAT others(11): Show GTCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0144 a0001c0001t0050g0144	1	162	0.0062	18	c.156 others(37): Show c.1569+6116_1569+6133dupCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122145	A A	ATCTCTAT others(11): Show ATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0036 a0001c0001t0014g0036	1	162	0.0062	18	c.156 others(37): Show c.1569+6127_1569+6128insGTGTCTCTATCTCTATCT	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(11): Show GTCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0128 a0002c0002t0128	a0002c0002t0128g0054 a0002c0002t0128g0054	1	162	0.0062	18	c.156 others(37): Show c.1569+6188_1569+6205dupCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122241	G G	GTCTCTAT others(11): Show GTCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18612.hp1 HG01517.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0125 a0001c0001t0007 a0001c0001t0125	a0001c0001t0007g0044 a0001c0001t0125g0033 a0001c0001t0007g0044 a0001c0001t0125g0033	2	162	0.0124	18	c.156 others(37): Show c.1569+6224_1569+6241dupCTATCTCTATCTCTATCT	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(11): Show GTCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03927.hp1 HG03669.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0015 a0001c0001t0013 a0001c0001t0015	a0001c0001t0013g0005 a0001c0001t0015g0023 a0001c0001t0013g0005 a0001c0001t0015g0023	2	162	0.0124	18	c.156 others(37): Show c.1569+6290_1569+6307dupCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122313	A A	ATCTCTAT others(11): Show ATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01433.hp2 homoSapiens_chm13v2.hp1 HG00544.hp2 HG01433.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014	a0001c0001t0009g0007 a0001c0001t0012g0018 a0001c0001t0014g0036 a0001c0001t0009g0007 a0001c0001t0012g0018 a0001c0001t0014g0036	3	162	0.0185	18	c.156 others(37): Show c.1569+6295_1569+6296insGTGTCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1144614	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0089	a0002c0002t0089g0037 a0002c0002t0089g0037	1	162	0.0062	18	c.173 others(37): Show c.1737+2830_1737+2847dupTATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1154213	G G	GTATGTAT others(11): Show GTATGTATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01981.hp2 others(5): Show HG00408.hp2 HG01106.hp2 HG01981.hp2 HG02922.hp2 HG03579.hp1 HG03669.hp1 HG03927.hp2 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0012 a0001c0001 a0002c0002 a0007c0012	a0001c0001t0011 a0001c0001t0108 a0001c0001t0113 others(5): Show a0001c0001t0011 a0001c0001t0108 a0001c0001t0113 a0001c0001t0120 a0002c0002t0036 a0002c0002t0070 a0002c0002t0105 a0007c0012t0073	a0001c0001t0011g0020 a0001c0001t0108g0064 a0001c0001t0113g0062 others(5): Show a0001c0001t0011g0020 a0001c0001t0108g0064 a0001c0001t0113g0062 a0001c0001t0120g0024 a0002c0002t0036g0158 a0002c0002t0070g0138 a0002c0002t0105g0148 a0007c0012t0073g0067	8	162	0.0494	18	c.173 others(39): Show c.1737+12456_1737+12473dupATATGTATATGTATATGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1154354	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	162	0.0062	18	c.173 others(39): Show c.1737+12578_1737+12595dupACACACACACACACACAC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196838	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG02145.hp2 others(3): Show HG00738.hp1 HG01433.hp1 HG02145.hp2 HG02622.hp2 HG02965.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0006c0008	a0001c0001t0003 a0001c0001t0090 a0001c0001t0130 others(3): Show a0001c0001t0003 a0001c0001t0090 a0001c0001t0130 a0002c0002t0055 a0003c0004t0003 a0006c0008t0041	a0001c0001t0003g0029 a0001c0001t0090g0032 a0001c0001t0130g0102 others(3): Show a0001c0001t0003g0029 a0001c0001t0090g0032 a0001c0001t0130g0102 a0002c0002t0055g0137 a0003c0004t0003g0058 a0006c0008t0041g0140	6	162	0.0370	18	c.235 others(37): Show c.2351+6791_2351+6792insCTCTCTCTGTCTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1386651	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0140 a0002c0002t0140	a0002c0002t0140g0108 a0002c0002t0140g0108	1	162	0.0062	18	c.292 others(39): Show c.2925+14688_2925+14689insAAAAAAAAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1402614	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 NA21309.hp1 HG02559.hp2 HG02622.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0001c0001t0133 a0002c0002t0038 a0001c0001t0021 a0001c0001t0133 a0002c0002t0038	a0001c0001t0021g0116 a0001c0001t0133g0094 a0002c0002t0038g0082 a0001c0001t0021g0116 a0001c0001t0133g0094 a0002c0002t0038g0082	3	162	0.0185	18	c.292 others(37): Show c.2926-5521_2926-5504dupCACACACACACACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1463697	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp1 HG02145.hp2 others(9): Show HG00408.hp1 HG01109.hp1 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02922.hp2 HG03516.hp2 NA18966.hp2 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007 a0004c0005 a0006c0008	a0001c0001t0034 a0001c0003t0022 a0001c0003t0046 others(9): Show a0001c0001t0034 a0001c0003t0022 a0001c0003t0046 a0002c0002t0017 a0002c0002t0036 a0002c0002t0080 a0002c0002t0131 a0002c0002t0134 a0002c0002t0136 a0002c0007t0059 a0004c0005t0122 a0006c0008t0041	a0001c0001t0034g0161 a0001c0003t0022g0114 a0001c0003t0046g0088 others(9): Show a0001c0001t0034g0161 a0001c0003t0022g0114 a0001c0003t0046g0088 a0002c0002t0017g0097 a0002c0002t0036g0158 a0002c0002t0080g0127 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0136g0100 a0002c0007t0059g0071 a0004c0005t0122g0057 a0006c0008t0041g0140	12	162	0.0741	18	c.321 others(39): Show c.3213+18965_3213+18982dupGTGTGTGTGTGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493544	A A	AATATATA others(11): Show AATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG06807.hp2 HG00408.hp1 HG06807.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0098 a0004c0005t0122 a0002c0002t0098 a0004c0005t0122	a0002c0002t0098g0045 a0004c0005t0122g0057 a0002c0002t0098g0045 a0004c0005t0122g0057	2	162	0.0124	18	c.33 others(29): Show c.3315_*3316insTATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3316	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493546	A A	AATATATA others(11): Show AATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG02717.hp2 NA20805.hp2 HG01257.hp1 HG02717.hp2 NA20805.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0009 a0001c0001 a0002c0002 a0009c0009	a0001c0001t0058 a0002c0002t0136 a0009c0009t0025 a0001c0001t0058 a0002c0002t0136 a0009c0009t0025	a0001c0001t0058g0141 a0002c0002t0136g0100 a0009c0009t0025g0110 a0001c0001t0058g0141 a0002c0002t0136g0100 a0009c0009t0025g0110	3	162	0.0185	18	c.33 others(29): Show c.3317_*3318insTATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3318	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0084 a0001c0001t0043g0084	1	162	0.0062	18	c.33 others(29): Show c.3319_*3320insAAAAAATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAATATA others(11): Show AAAATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0103 a0001c0001t0132g0103	1	162	0.0062	18	c.33 others(29): Show c.3319_*3320insAATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AATATATA others(11): Show AATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0150 a0001c0001t0040g0150	1	162	0.0062	18	c.33 others(29): Show c.3331_*3348dupATATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3349	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55553011	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	74	0.0135	18	c.40 others(37): Show c.40-41753_*40-41736dupAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55675903	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	74	0.0135	18	c.39 others(35): Show c.39+7873_*39+7890dupAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55713131	T T	TCTCTCTC others(11): Show TCTCTCTCTCTGTCTCACA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	74	0.0135	18	c.271 others(39): Show c.2713-13620_2713-13619insTGTGAGACAGAGAGAGAG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55828457	T T	TGGCAGCA others(11): Show TGGCAGCAGGGGCAGCAGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp2 HG03540.hp2 HG01109.hp1 HG02922.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001	a0001c0001t0002g0037 a0001c0001t0004g0022 a0001c0004t0001g0028 a0001c0001t0002g0037 a0001c0001t0004g0022 a0001c0004t0001g0028	3	74	0.0405	18	c.256 others(39): Show c.2564+59914_2564+59931dupCCTGCTGCCCCTGCTGCC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55828458	G G	GGCAGCAG others(11): Show GGCAGCAGGGGCAGCAGGC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	74	0.0135	18	c.256 others(39): Show c.2564+59930_2564+59931insGCCTGCTGCCCCTGCTGC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55828476	G G	GGCAGCAG others(11): Show GGCAGCAGGGGCAGCAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01071.hp1 others(15): Show HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01934.hp2 HG02040.hp2 HG02258.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03710.hp2 HG03831.hp2 NA18962.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0013 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0038 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0010g0045 a0001c0001t0011g0047 a0001c0002t0001g0003 a0001c0002t0013g0074 a0002c0003t0001g0039 a0002c0003t0003g0056	18	74	0.2432	18	c.256 others(39): Show c.2564+59912_2564+59913insGCCTGCTGCCCCTGCTGC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56186114	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02630.hp1 HG01346.hp1 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0042 a0002c0003t0003g0025 a0001c0002t0001g0042 a0002c0003t0003g0025	2	74	0.0270	18	c.107 others(39): Show c.1075-12612_1075-12595dupTTTTTTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56276459	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0074 a0001c0002t0013g0074	1	74	0.0135	18	c.107 others(39): Show c.1074+19542_1074+19559dupTTTTTTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56343190	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	74	0.0135	18	c.658 others(37): Show c.658-46756_658-46755insTGTGTGTGTGTGTGTGTG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56343192	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	74	0.0135	18	c.658 others(37): Show c.658-46775_658-46758dupTGTGTGTGTGTGTGTGTG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01099.hp1 HG01175.hp1 others(33): Show HG00544.hp1 HG01099.hp1 HG01175.hp1 HG01433.hp1 HG01891.hp1 HG01975.hp2 HG02004.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02809.hp1 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03516.hp1 HG04184.hp1 HG04199.hp2 NA18947.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18992.hp1 NA18999.hp1 NA19002.hp2 NA19063.hp1 NA19064.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0002t0022	a0001c0001t0001g0046 a0001c0001t0001g0215 a0001c0001t0001g0218 others(26): Show a0001c0001t0001g0046 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0003g0005 a0001c0001t0003g0135 a0001c0001t0003g0139 a0001c0001t0003g0146 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0006g0166 a0001c0001t0013g0217 a0001c0001t0014g0245 a0001c0001t0020g0050 a0001c0002t0022g0100	36	420	0.0857	18	c.844 others(33): Show c.844-858_844-841dupCACACACACACACACACA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC1_chr19_45402334_45428917	45410596	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0206 a0001c0001t0006g0206	1	420	0.0024	18	c.844 others(33): Show c.844-872_844-871insCCACACACACACACACAC	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC2_chr19_45344837_45375573	45372147	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02559.hp1 HG02615.hp1 others(2): Show HG01981.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0031 a0001c0001t0001 a0001c0001t0004 a0001c0001t0031	a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0284 others(2): Show a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0284 a0001c0001t0004g0121 a0001c0001t0031g0058	5	412	0.0121	18	c.-16 others(29): Show c.-1608_-1607insGCGCGCACACACACACAC	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		1575		chr19	TogoVar
ERCC2_chr19_45344837_45375573	45372147	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00733.hp1 HG02129.hp1 others(31): Show HG00621.hp2 HG00733.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02723.hp2 HG02896.hp2 HG03239.hp2 HG03471.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18966.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp2 NA19084.hp1 NA19089.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0026 a0001c0001 a0003c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0025 a0001c0001t0039 a0003c0026t0009	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0127 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0293 a0001c0001t0004g0062 a0001c0001t0011g0126 a0001c0001t0025g0133 a0001c0001t0039g0296 a0003c0026t0009g0200	34	412	0.0825	18	c.-16 others(29): Show c.-1608_-1607insGCGCACACACACACACAC	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		1575		chr19	TogoVar
ERCC5_chr13_102841032_102880995	102864126	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19091.hp2 NA19066.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	2	394	0.0051	18	c.195 others(37): Show c.1954+1046_1954+1063dupCACACACACACACACACA	ERCC5	ENSG00000134899.24	transcript	ENST00000652225.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
ERCC6L2_chr9_95870691_96023447	95907826	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0347 a0002c0002t0003g0347	1	392	0.0026	18	c.788 others(33): Show c.788+568_788+585dupACACACACACACACACAC	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(11): Show CACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	392	0.0026	18	c.788 others(33): Show c.788+582_788+583insAACACACACACACACACA	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERGIC1_chr5_172829251_172957683	172867001	A A	AGATGATG others(11): Show AGATGATGCAGATGGAGAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG03130.hp2 HG02109.hp2 HG02615.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0318 a0001c0001t0001g0325 a0001c0001t0004g0326 a0001c0001t0001g0318 a0001c0001t0001g0325 a0001c0001t0004g0326	3	334	0.0090	18	c.21- others(35): Show c.21-21675_21-21658dupATGCAGATGGAGATGATG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

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