Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ERC1_chr12_986223_1500931	1007540	C C	CTCTCTGT others(1): Show CTCTCTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp2 NA20805.hp2 HG01346.hp2 HG01361.hp2 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0033 a0002c0002t0072 a0006c0009t0025 a0001c0001t0033 a0002c0002t0072 a0006c0009t0025	a0001c0001t0033g0111 a0002c0002t0072g0145 a0006c0009t0025g0110 a0001c0001t0033g0111 a0002c0002t0072g0145 a0006c0009t0025g0110	3	162	0.0185	8	c.-15 others(29): Show c.-157+16219_-157+16220insCTCTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1007540	C C	CTCTGTGT others(1): Show CTCTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG02109.hp1 others(1): Show HG00639.hp2 HG01106.hp2 HG02109.hp1 HG02895.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0010 a0002c0002 a0005c0010	a0002c0002t0006 a0002c0002t0066 a0002c0002t0105 others(1): Show a0002c0002t0006 a0002c0002t0066 a0002c0002t0105 a0005c0010t0082	a0002c0002t0006g0122 a0002c0002t0066g0139 a0002c0002t0105g0148 others(1): Show a0002c0002t0006g0122 a0002c0002t0066g0139 a0002c0002t0105g0148 a0005c0010t0082g0126	4	162	0.0247	8	c.-15 others(29): Show c.-157+16219_-157+16220insCTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1065480	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp2 HG01256.hp1 others(17): Show HG00544.hp2 HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02055.hp2 HG02280.hp1 HG02717.hp1 HG02886.hp1 HG02976.hp1 HG03516.hp2 HG03669.hp2 HG03927.hp1 HG04199.hp1 NA18949.hp1 NA19030.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(2): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 others(16): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0027 a0001c0001t0061 a0001c0001t0071 a0001c0001t0094 a0001c0001t0097 a0001c0001t0110 a0001c0001t0111 a0001c0001t0119 a0001c0003t0092 a0001c0013t0063 a0002c0002t0002 a0002c0002t0042 a0002c0007t0059	a0001c0001t0001g0080 a0001c0001t0007g0044 a0001c0001t0007g0048 others(17): Show a0001c0001t0001g0080 a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0010g0009 a0001c0001t0012g0018 a0001c0001t0013g0005 a0001c0001t0015g0023 a0001c0001t0027g0119 a0001c0001t0061g0153 a0001c0001t0071g0074 a0001c0001t0094g0016 a0001c0001t0097g0031 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0119g0061 a0001c0003t0092g0004 a0001c0013t0063g0077 a0002c0002t0002g0090 a0002c0002t0042g0079 a0002c0007t0059g0071	20	162	0.1235	8	c.670 others(27): Show c.670-17650_670-17643dupGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1084247	A A	AATTAATA others(1): Show AATTAATAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02922.hp2 NA19030.hp1 HG01081.hp1 HG02922.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0089 a0002c0002t0099 a0002c0002t0036 a0002c0002t0089 a0002c0002t0099	a0002c0002t0036g0158 a0002c0002t0089g0037 a0002c0002t0099g0131 a0002c0002t0036g0158 a0002c0002t0089g0037 a0002c0002t0099g0131	3	162	0.0185	8	c.108 others(25): Show c.1086+668_1086+675dupATTAATAG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1093957	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 HG01192.hp2 others(12): Show HG00738.hp2 HG01106.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp2 HG01981.hp2 HG02129.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02976.hp2 HG03130.hp2 HG03927.hp2 NA18982.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0003c0004	a0001c0001t0023 a0001c0001t0032 a0001c0001t0108 others(12): Show a0001c0001t0023 a0001c0001t0032 a0001c0001t0108 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0002c0002t0035 a0002c0002t0072 a0002c0002t0101 a0002c0002t0102 a0002c0002t0115 a0002c0002t0128 a0002c0006t0051 a0003c0004t0009 a0003c0004t0096	a0001c0001t0023g0162 a0001c0001t0032g0159 a0001c0001t0108g0064 others(12): Show a0001c0001t0023g0162 a0001c0001t0032g0159 a0001c0001t0108g0064 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 a0002c0002t0035g0143 a0002c0002t0072g0145 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0115g0049 a0002c0002t0128g0054 a0002c0006t0051g0081 a0003c0004t0009g0059 a0003c0004t0096g0063	15	162	0.0926	8	c.108 others(29): Show c.1086+10398_1086+10405dupTATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121741	A A	ATCTGTGT others(1): Show ATCTGTGTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02896.hp2 HG02809.hp1 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0075 a0002c0002t0140 a0002c0002t0075 a0002c0002t0140	a0002c0002t0075g0073 a0002c0002t0140g0108 a0002c0002t0075g0073 a0002c0002t0140g0108	2	162	0.0124	8	c.156 others(27): Show c.1569+5711_1569+5712insGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121763	A A	ATCTGTGT others(1): Show ATCTGTGTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG01515.hp1 others(4): Show HG01106.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG02622.hp1 HG03654.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0007 a0001c0001t0008 a0001c0001t0050 others(4): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0050 a0002c0002t0038 a0002c0002t0048 a0003c0004t0003 a0003c0004t0009	a0001c0001t0007g0048 a0001c0001t0008g0086 a0001c0001t0050g0144 others(4): Show a0001c0001t0007g0048 a0001c0001t0008g0086 a0001c0001t0050g0144 a0002c0002t0038g0082 a0002c0002t0048g0070 a0003c0004t0003g0058 a0003c0004t0009g0059	7	162	0.0432	8	c.156 others(27): Show c.1569+5733_1569+5734insGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121779	A A	ATCTGTGT others(1): Show ATCTGTGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01496.hp2 HG01952.hp1 others(5): Show HG00140.hp1 HG01496.hp2 HG01952.hp1 HG02280.hp1 NA19030.hp2 NA19090.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 others(4): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0001t0062 a0001c0001t0110 a0001c0001t0111 a0002c0002t0084	a0001c0001t0012g0022 a0001c0001t0014g0027 a0001c0001t0014g0036 others(5): Show a0001c0001t0012g0022 a0001c0001t0014g0027 a0001c0001t0014g0036 a0001c0001t0027g0119 a0001c0001t0062g0147 a0001c0001t0110g0013 a0001c0001t0111g0017 a0002c0002t0084g0025	8	162	0.0494	8	c.156 others(27): Show c.1569+5749_1569+5750insGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121837	A A	ATCTCTAT others(1): Show ATCTCTATC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02622.hp1 others(2): Show HG01243.hp2 HG01891.hp2 HG02622.hp1 HG03669.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0001c0001t0015 a0001c0001t0086 others(2): Show a0001c0001t0010 a0001c0001t0015 a0001c0001t0086 a0002c0002t0038 a0002c0002t0048	a0001c0001t0010g0009 a0001c0001t0015g0023 a0001c0001t0086g0060 others(2): Show a0001c0001t0010g0009 a0001c0001t0015g0023 a0001c0001t0086g0060 a0002c0002t0038g0082 a0002c0002t0048g0070	5	162	0.0309	8	c.156 others(27): Show c.1569+5807_1569+5808insCTATCTCT	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(1): Show ATCTCTATC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01257.hp2 HG01981.hp2 others(1): Show HG00738.hp2 HG01257.hp2 HG01981.hp2 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 others(1): Show a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0002c0002t0085	a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 others(1): Show a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 a0002c0002t0085g0142	4	162	0.0247	8	c.156 others(27): Show c.1569+5907_1569+5908insCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122007	A A	ATCTGTGT others(1): Show ATCTGTGTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01433.hp2 HG03139.hp1 HG00140.hp1 HG01433.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0045 a0001c0001t0062 a0001c0001t0009 a0001c0001t0045 a0001c0001t0062	a0001c0001t0009g0007 a0001c0001t0045g0066 a0001c0001t0062g0147 a0001c0001t0009g0007 a0001c0001t0045g0066 a0001c0001t0062g0147	3	162	0.0185	8	c.156 others(27): Show c.1569+5977_1569+5978insGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122009	C C	CTCTATCT others(1): Show CTCTATCTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 homoSapiens_chm13v2.hp1 HG01358.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0094 a0001c0001t0014 a0001c0001t0094	a0001c0001t0014g0036 a0001c0001t0094g0016 a0001c0001t0014g0036 a0001c0001t0094g0016	2	162	0.0124	8	c.156 others(27): Show c.1569+5977_1569+5978insCTATCTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122049	A A	ATCTCTAT others(1): Show ATCTCTATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG01256.hp1 others(8): Show HG00140.hp2 HG00323.hp1 HG01256.hp1 HG01496.hp2 HG01952.hp1 HG02129.hp1 HG02602.hp2 NA18966.hp1 NA18982.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0014 a0001c0001t0015 a0001c0001t0032 others(8): Show a0001c0001t0014 a0001c0001t0015 a0001c0001t0032 a0001c0001t0043 a0001c0001t0077 a0001c0001t0097 a0001c0001t0118 a0001c0001t0121 a0001c0001t0123 a0001c0003t0088 a0002c0002t0084	a0001c0001t0014g0027 a0001c0001t0015g0038 a0001c0001t0032g0159 others(8): Show a0001c0001t0014g0027 a0001c0001t0015g0038 a0001c0001t0032g0159 a0001c0001t0043g0084 a0001c0001t0077g0012 a0001c0001t0097g0031 a0001c0001t0118g0026 a0001c0001t0121g0011 a0001c0001t0123g0047 a0001c0003t0088g0021 a0002c0002t0084g0025	11	162	0.0679	8	c.156 others(27): Show c.1569+6019_1569+6020insCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122067	C C	CTATCTCT others(1): Show CTATCTCTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02976.hp1 others(1): Show HG02109.hp1 HG02258.hp2 HG02976.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0042 a0002c0002t0085 others(1): Show a0002c0002t0006 a0002c0002t0042 a0002c0002t0085 a0002c0002t0115	a0002c0002t0006g0122 a0002c0002t0042g0079 a0002c0002t0085g0142 others(1): Show a0002c0002t0006g0122 a0002c0002t0042g0079 a0002c0002t0085g0142 a0002c0002t0115g0049	4	162	0.0247	8	c.156 others(27): Show c.1569+6035_1569+6036insATCTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122411	C C	CTATCTCT others(1): Show CTATCTCTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG01433.hp1 HG01192.hp2 HG01256.hp2 HG01433.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0010 a0003c0004t0096 a0003c0004t0003 a0003c0004t0010 a0003c0004t0096	a0003c0004t0003g0058 a0003c0004t0010g0053 a0003c0004t0096g0063 a0003c0004t0003g0058 a0003c0004t0010g0053 a0003c0004t0096g0063	3	162	0.0185	8	c.156 others(27): Show c.1569+6379_1569+6380insATCTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122564	T T	TGCCTATT others(1): Show TGCCTATTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG01192.hp2 others(2): Show HG00738.hp1 HG01106.hp1 HG01192.hp2 HG01256.hp2 HG01433.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0003c0004t0003 a0003c0004t0009 others(2): Show a0001c0001t0003 a0003c0004t0003 a0003c0004t0009 a0003c0004t0010 a0003c0004t0096	a0001c0001t0003g0029 a0003c0004t0003g0058 a0003c0004t0009g0059 others(2): Show a0001c0001t0003g0029 a0003c0004t0003g0058 a0003c0004t0009g0059 a0003c0004t0010g0053 a0003c0004t0096g0063	5	162	0.0309	8	c.156 others(27): Show c.1569+6531_1569+6532insGCCTATTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1143329	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01346.hp1 HG01952.hp2 others(2): Show HG00408.hp1 HG01346.hp1 HG01952.hp2 HG03927.hp1 NA18982.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0013 a0001c0001t0040 a0001c0001t0057 others(2): Show a0001c0001t0013 a0001c0001t0040 a0001c0001t0057 a0001c0001t0077 a0004c0005t0122	a0001c0001t0013g0005 a0001c0001t0040g0150 a0001c0001t0057g0156 others(2): Show a0001c0001t0013g0005 a0001c0001t0040g0150 a0001c0001t0057g0156 a0001c0001t0077g0012 a0004c0005t0122g0057	5	162	0.0309	8	c.173 others(27): Show c.1737+1587_1737+1594dupGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1154330	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp2 HG02055.hp1 others(10): Show HG01358.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0039 others(8): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0039 a0002c0002t0075 a0002c0002t0078 a0002c0002t0079 a0002c0002t0081 a0002c0002t0085 a0002c0002t0115 a0002c0002t0139 a0002c0002t0140	a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0006g0122 others(10): Show a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0039g0151 a0002c0002t0075g0073 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0081g0123 a0002c0002t0085g0142 a0002c0002t0115g0049 a0002c0002t0139g0096 a0002c0002t0140g0108	13	162	0.0803	8	c.173 others(29): Show c.1737+12544_1737+12545insTATATACA	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(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02717.hp2 HG03209.hp1 others(1): Show HG00639.hp2 HG02717.hp2 HG03209.hp1 HG03516.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0007 a0005c0010 a0002c0002 a0002c0007 a0005c0010	a0002c0002t0104 a0002c0002t0136 a0002c0007t0059 others(1): Show a0002c0002t0104 a0002c0002t0136 a0002c0007t0059 a0005c0010t0082	a0002c0002t0104g0043 a0002c0002t0136g0100 a0002c0007t0059g0071 others(1): Show a0002c0002t0104g0043 a0002c0002t0136g0100 a0002c0007t0059g0071 a0005c0010t0082g0126	4	162	0.0247	8	c.173 others(29): Show c.1737+12588_1737+12595dupACACACAC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1180253	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03195.hp2 HG02280.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0060 a0001c0001t0005 a0002c0002t0060	a0001c0001t0005g0041 a0002c0002t0060g0040 a0001c0001t0005g0041 a0002c0002t0060g0040	2	162	0.0124	8	c.173 others(25): Show c.1738-264_1738-257dupTGTGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196806	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 HG03579.hp2 HG02572.hp1 HG03139.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0134 a0002c0002t0016 a0002c0002t0134	a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0134g0105 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0134g0105	3	162	0.0185	8	c.235 others(27): Show c.2351+6772_2351+6779dupCTCTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1219635	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01106.hp2 others(11): Show HG00639.hp2 HG01081.hp1 HG01106.hp2 HG01257.hp1 HG01891.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02717.hp2 HG02809.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03579.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0005 a0001c0001t0058 a0001c0001t0074 others(10): Show a0001c0001t0005 a0001c0001t0058 a0001c0001t0074 a0002c0002t0016 a0002c0002t0037 a0002c0002t0060 a0002c0002t0099 a0002c0002t0104 a0002c0002t0105 a0002c0002t0131 a0002c0002t0134 a0002c0002t0136 a0005c0010t0082	a0001c0001t0005g0041 a0001c0001t0058g0141 a0001c0001t0074g0039 others(11): Show a0001c0001t0005g0041 a0001c0001t0058g0141 a0001c0001t0074g0039 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0037g0042 a0002c0002t0060g0040 a0002c0002t0099g0131 a0002c0002t0104g0043 a0002c0002t0105g0148 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0136g0100 a0005c0010t0082g0126	14	162	0.0864	8	c.235 others(29): Show c.2352-17128_2352-17121dupTTTTTTTT	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(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG01257.hp1 others(4): Show HG00639.hp1 HG01192.hp2 HG01257.hp1 HG01361.hp2 HG01515.hp2 NA18966.hp2 NA18982.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 others(4): Show a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0001t0033 a0001c0001t0034 a0001c0001t0058 a0003c0004t0096	a0001c0001t0020g0113 a0001c0001t0023g0162 a0001c0001t0028g0129 others(4): Show a0001c0001t0020g0113 a0001c0001t0023g0162 a0001c0001t0028g0129 a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0001t0058g0141 a0003c0004t0096g0063	7	162	0.0432	8	c.248 others(27): Show c.2488-7391_2488-7384dupTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1284265	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02129.hp1 HG02602.hp2 others(1): Show HG00738.hp1 HG02129.hp1 HG02602.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0032 others(1): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0032 a0001c0001t0123	a0001c0001t0003g0029 a0001c0001t0013g0005 a0001c0001t0032g0159 others(1): Show a0001c0001t0003g0029 a0001c0001t0013g0005 a0001c0001t0032g0159 a0001c0001t0123g0047	4	162	0.0247	8	c.262 others(27): Show c.2620-5550_2620-5543dupGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1303955	G G	GAAAAAAA others(1): Show GAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01891.hp1 HG02622.hp1 others(3): Show HG00544.hp1 HG01891.hp1 HG02622.hp1 HG02735.hp1 HG03195.hp2 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0013 a0001c0001t0068 others(3): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0068 a0001c0001t0074 a0001c0001t0124 a0002c0002t0038	a0001c0001t0005g0041 a0001c0001t0013g0015 a0001c0001t0068g0083 others(3): Show a0001c0001t0005g0041 a0001c0001t0013g0015 a0001c0001t0068g0083 a0001c0001t0074g0039 a0001c0001t0124g0050 a0002c0002t0038g0082	6	162	0.0370	8	c.278 others(29): Show c.2780+13951_2780+13958dupAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1305016	C C	CTGATCTC others(1): Show CTGATCTCG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG04199.hp1 others(2): Show HG01081.hp1 HG02257.hp1 HG04199.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 others(2): Show a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0002c0002t0099	a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 others(2): Show a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0002c0002t0099g0131	5	162	0.0309	8	c.278 others(29): Show c.2780+15004_2780+15005insTGATCTCG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1386651	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp1 others(36): Show HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00544.hp2 HG00738.hp2 HG00741.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02129.hp1 HG02155.hp1 HG02280.hp1 HG02735.hp2 HG02965.hp2 HG02976.hp1 HG03654.hp1 HG03927.hp1 NA18612.hp1 NA18949.hp2 NA18966.hp1 NA18982.hp1 NA19030.hp2 NA19043.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 others(33): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0043 a0001c0001t0050 a0001c0001t0062 a0001c0001t0069 a0001c0001t0071 a0001c0001t0077 a0001c0001t0093 a0001c0001t0094 a0001c0001t0097 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0117 a0001c0001t0121 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0141 a0002c0002t0026 a0002c0002t0042 a0002c0002t0064	a0001c0001t0003g0035 a0001c0001t0007g0044 a0001c0001t0007g0048 others(36): Show a0001c0001t0003g0035 a0001c0001t0007g0044 a0001c0001t0007g0048 a0001c0001t0009g0007 a0001c0001t0010g0009 a0001c0001t0011g0020 a0001c0001t0012g0018 a0001c0001t0012g0022 a0001c0001t0013g0005 a0001c0001t0014g0027 a0001c0001t0014g0036 a0001c0001t0015g0038 a0001c0001t0027g0119 a0001c0001t0029g0160 a0001c0001t0032g0159 a0001c0001t0043g0084 a0001c0001t0050g0144 a0001c0001t0062g0147 a0001c0001t0069g0092 a0001c0001t0071g0074 a0001c0001t0077g0012 a0001c0001t0093g0008 a0001c0001t0094g0016 a0001c0001t0097g0031 a0001c0001t0109g0014 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0112g0052 a0001c0001t0113g0062 a0001c0001t0114g0051 a0001c0001t0117g0001 a0001c0001t0121g0011 a0001c0001t0124g0050 a0001c0001t0125g0033 a0001c0001t0126g0030 a0001c0001t0141g0002 a0002c0002t0026g0115 a0002c0002t0042g0079 a0002c0002t0064g0069	39	162	0.2407	8	c.292 others(29): Show c.2925+14681_2925+14688dupAAAAAAAA	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(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp1 HG03654.hp2 HG01891.hp2 HG03516.hp1 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0047 a0002c0002t0048 a0001c0001t0013 a0002c0002t0047 a0002c0002t0048	a0001c0001t0013g0015 a0002c0002t0047g0104 a0002c0002t0048g0070 a0001c0001t0013g0015 a0002c0002t0047g0104 a0002c0002t0048g0070	3	162	0.0185	8	c.292 others(27): Show c.2926-5511_2926-5504dupCACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1405146	T T	TATAAATA others(1): Show TATAAATAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00738.hp1 others(18): Show HG00323.hp2 HG00639.hp1 HG00738.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01952.hp2 HG02145.hp1 HG02145.hp2 HG02647.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03225.hp1 HG03225.hp2 NA18966.hp2 NA18982.hp2 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0009c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0034 a0001c0001t0057 a0001c0001t0132 a0001c0001t0138 a0002c0002t0036 a0002c0002t0065 a0002c0002t0066 a0002c0002t0075 a0002c0002t0081 a0002c0002t0084 a0002c0002t0116 a0003c0004t0003 a0009c0008t0041	a0001c0001t0001g0080 a0001c0001t0003g0029 a0001c0001t0004g0075 others(18): Show a0001c0001t0001g0080 a0001c0001t0003g0029 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0008g0086 a0001c0001t0020g0113 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0034g0161 a0001c0001t0057g0156 a0001c0001t0132g0103 a0001c0001t0138g0095 a0002c0002t0036g0158 a0002c0002t0065g0072 a0002c0002t0066g0139 a0002c0002t0075g0073 a0002c0002t0081g0123 a0002c0002t0084g0025 a0002c0002t0116g0107 a0003c0004t0003g0058 a0009c0008t0041g0140	21	162	0.1296	8	c.292 others(27): Show c.2926-2975_2926-2968dupAATAAATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1424864	C C	CGATAGAT others(1): Show CGATAGATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20129.hp1 HG01884.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0080 a0002c0002t0006g0125 a0001c0001t0001g0080 a0002c0002t0006g0125	2	162	0.0124	8	c.302 others(29): Show c.3024+16658_3024+16665dupGATAGATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1436155	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG00741.hp1 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0026 a0002c0002t0018 a0002c0002t0026	a0002c0002t0018g0117 a0002c0002t0026g0115 a0002c0002t0018g0117 a0002c0002t0026g0115	2	162	0.0124	8	c.302 others(27): Show c.3025-8388_3025-8381dupACACACAC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1463697	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 NA21309.hp2 HG02258.hp1 HG02647.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0115 a0002c0002t0116 a0002c0002t0052 a0002c0002t0115 a0002c0002t0116	a0002c0002t0052g0154 a0002c0002t0115g0049 a0002c0002t0116g0107 a0002c0002t0052g0154 a0002c0002t0115g0049 a0002c0002t0116g0107	3	162	0.0185	8	c.321 others(29): Show c.3213+18975_3213+18982dupGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493546	A A	AATATATA others(1): Show AATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02155.hp1 HG02559.hp1 others(6): Show HG02109.hp1 HG02155.hp1 HG02559.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG03130.hp2 HG03516.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0002c0007	a0001c0001t0117 a0002c0002t0006 a0002c0002t0017 others(5): Show a0001c0001t0117 a0002c0002t0006 a0002c0002t0017 a0002c0002t0039 a0002c0002t0075 a0002c0002t0101 a0002c0006t0051 a0002c0007t0059	a0001c0001t0117g0001 a0002c0002t0006g0122 a0002c0002t0006g0125 others(6): Show a0001c0001t0117g0001 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0017g0097 a0002c0002t0039g0151 a0002c0002t0075g0073 a0002c0002t0101g0056 a0002c0006t0051g0081 a0002c0007t0059g0071	9	162	0.0556	8	c.33 others(19): Show c.3317_*3318insTATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3318	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55549950	G G	GAGAGATA others(1): Show GAGAGATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(12): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01346.hp2 HG01934.hp2 HG02040.hp1 HG02145.hp1 HG02486.hp1 HG02965.hp1 HG03098.hp2 HG03831.hp1 NA18962.hp1 NA18962.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0002c0003t0001 a0002c0003t0003 a0004c0005t0003	a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0062 others(12): Show a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0002g0058 a0001c0001t0002g0072 a0001c0001t0003g0046 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0005g0053 a0001c0001t0005g0071 a0001c0002t0002g0016 a0002c0003t0001g0039 a0002c0003t0003g0056 a0004c0005t0003g0065	15	74	0.2027	8	c.40 others(27): Show c.40-38675_*40-38674insGTATCTCT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55566407	C C	CTATTTAT others(1): Show CTATTTATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG02970.hp2 others(2): Show HG02809.hp1 HG02965.hp1 HG02970.hp2 HG06807.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0003c0006t0004	a0001c0001t0002g0019 a0001c0001t0002g0072 a0001c0001t0003g0044 others(2): Show a0001c0001t0002g0019 a0001c0001t0002g0072 a0001c0001t0003g0044 a0001c0001t0009g0073 a0003c0006t0004g0060	5	74	0.0676	8	c.40 others(27): Show c.40-55139_*40-55132dupAATAAATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55583387	T T	TTTCCCTC others(1): Show TTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02809.hp1 others(2): Show HG02145.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0004t0001	a0001c0001t0002g0037 a0001c0001t0002g0066 a0001c0001t0003g0044 others(2): Show a0001c0001t0002g0037 a0001c0001t0002g0066 a0001c0001t0003g0044 a0001c0001t0005g0063 a0001c0004t0001g0031	5	74	0.0676	8	c.40 others(27): Show c.40-72112_*40-72111insGGAGGGAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55583399	T T	TTTCCTTC others(1): Show TTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03710.hp1 NA18962.hp2 others(1): Show HG02738.hp2 HG03710.hp1 NA18962.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0002g0055 a0001c0001t0003g0046 others(1): Show a0001c0001t0001g0059 a0001c0001t0002g0055 a0001c0001t0003g0046 a0001c0001t0003g0051	4	74	0.0541	8	c.40 others(27): Show c.40-72131_*40-72124dupGGAAGGAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55610506	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01346.hp1 others(6): Show HG01109.hp1 HG01167.hp1 HG01346.hp1 HG02040.hp1 HG02486.hp1 HG02738.hp2 HG02965.hp1 HG03834.hp1 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0003t0003 a0004c0005t0003	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0062 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0062 a0001c0001t0002g0034 a0001c0001t0002g0072 a0001c0001t0003g0051 a0001c0001t0004g0022 a0002c0003t0003g0025 a0004c0005t0003g0065	9	74	0.1216	8	c.39 others(27): Show c.39+73280_*39+73287dupGTGTGTGT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55656098	C C	CTTTATTT others(1): Show CTTTATTTA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02486.hp2 HG02922.hp1 others(5): Show HG01934.hp2 HG02486.hp2 HG02922.hp1 HG02970.hp1 HG03710.hp2 HG03831.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0004 a0001c0004t0001 a0002c0003t0003	a0001c0001t0001g0061 a0001c0001t0002g0011 a0001c0001t0002g0049 others(5): Show a0001c0001t0001g0061 a0001c0001t0002g0011 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0011g0047 a0001c0002t0004g0001 a0001c0004t0001g0031 a0002c0003t0003g0056	8	74	0.1081	8	c.39 others(27): Show c.39+27688_*39+27695dupTAAATAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55720239	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02922.hp1 HG01099.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0008 a0001c0004t0001g0031 a0001c0001t0002g0008 a0001c0004t0001g0031	2	74	0.0270	8	c.271 others(29): Show c.2712+14524_2712+14531dupGAGAGAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55733542	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp1 HG02809.hp1 others(3): Show HG01109.hp2 HG02723.hp1 HG02809.hp1 HG03540.hp1 HG03710.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001	a0001c0001t0002g0012 a0001c0001t0002g0058 a0001c0001t0003g0044 others(3): Show a0001c0001t0002g0012 a0001c0001t0002g0058 a0001c0001t0003g0044 a0001c0001t0011g0047 a0001c0002t0001g0006 a0001c0002t0001g0017	6	74	0.0811	8	c.271 others(27): Show c.2712+1221_2712+1228dupTGTGTGTG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55771710	C C	CCCATTGC others(1): Show CCCATTGCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01071.hp1 others(12): Show HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01346.hp1 HG01934.hp2 HG02040.hp2 HG02647.hp2 HG02965.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03710.hp2 HG03831.hp2 NA18962.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0013 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0052 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0002g0032 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0003g0046 a0001c0001t0004g0020 a0001c0001t0010g0045 a0001c0001t0011g0047 a0001c0002t0001g0003 a0001c0002t0013g0074 a0002c0003t0001g0039 a0002c0003t0003g0025 a0002c0003t0003g0056	15	74	0.2027	8	c.256 others(29): Show c.2565-36800_2565-36793dupTGCAATGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55775537	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01167.hp2 others(13): Show HG00741.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01346.hp2 HG02040.hp1 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03831.hp1 NA18962.hp1 NA18962.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0004c0005t0003	a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0002g0005 others(13): Show a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0072 a0001c0001t0003g0046 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0004g0022 a0001c0001t0005g0071 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0007g0024 a0001c0002t0001g0003 a0004c0005t0003g0065	16	74	0.2162	8	c.256 others(29): Show c.2565-40627_2565-40620dupATTTATTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55808701	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG03041.hp1 HG02809.hp1 HG02809.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0003g0044 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0003g0044	3	74	0.0405	8	c.256 others(29): Show c.2565-73791_2565-73784dupTATATATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55811139	C C	CTTTTAAT others(1): Show CTTTTAATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01071.hp1 others(11): Show HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01346.hp1 HG01934.hp2 HG02040.hp2 HG02647.hp2 HG02965.hp2 HG03130.hp1 HG03195.hp2 HG03710.hp2 HG03831.hp2 NA18962.hp2 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 a0001c0001t0001g0052 others(11): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0002g0032 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0003g0046 a0001c0001t0010g0045 a0001c0001t0011g0047 a0001c0002t0001g0003 a0001c0002t0013g0074 a0002c0003t0001g0039 a0002c0003t0003g0025 a0002c0003t0003g0056	14	74	0.1892	8	c.256 others(29): Show c.2565-76229_2565-76222dupAATTAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55846689	C C	CTCTCTCT others(1): Show CTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG01109.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0066 a0001c0001t0002g0058 a0001c0001t0002g0066	2	74	0.0270	8	c.256 others(29): Show c.2564+41699_2564+41700insAAGAGAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55846693	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0021 a0001c0001t0010g0045 a0001c0001t0002g0021 a0001c0001t0010g0045	2	74	0.0270	8	c.256 others(29): Show c.2564+41688_2564+41695dupGAGAGAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55850845	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp2 HG02970.hp1 others(3): Show HG01109.hp2 HG02630.hp2 HG02970.hp1 HG03098.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0007 a0001c0001t0002g0011 a0001c0001t0002g0019 others(3): Show a0001c0001t0001g0007 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0002t0002g0016	6	74	0.0811	8	c.256 others(29): Show c.2564+37536_2564+37543dupGTGTGTGT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55879099	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp1 HG01109.hp1 others(28): Show HG00741.hp1 HG01071.hp1 HG01109.hp1 HG01167.hp1 HG01346.hp2 HG01934.hp2 HG02040.hp2 HG02486.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp2 NA18962.hp2 NA19030.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0004t0001 a0002c0003t0001 a0002c0003t0003 a0003c0006t0004	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 others(28): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0002g0019 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0051 a0001c0001t0003g0070 a0001c0001t0004g0022 a0001c0001t0007g0002 a0001c0001t0007g0024 a0001c0001t0010g0045 a0001c0002t0001g0006 a0001c0002t0001g0017 a0001c0002t0003g0018 a0001c0002t0013g0074 a0001c0004t0001g0028 a0001c0004t0001g0031 a0002c0003t0001g0039 a0002c0003t0003g0056 a0003c0006t0004g0060	31	74	0.4189	8	c.256 others(27): Show c.2564+9282_2564+9289dupAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55920415	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp2 others(9): Show HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01346.hp2 HG02145.hp1 HG02630.hp2 HG02738.hp2 HG03710.hp2 HG03831.hp2 NA19043.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0050 others(9): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0002g0019 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0003g0051 a0001c0001t0003g0070 a0001c0001t0011g0047 a0001c0002t0001g0067	12	74	0.1622	8	c.240 others(29): Show c.2403+30002_2403+30009dupGTGTGTGT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	13/17			chr3	TogoVar

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