Joint Open Genome and Omics Platform (JoGo)

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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	212003112	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0054 a0001c0001t0029g0054	1	56	0.0179	20	c.235 others(39): Show c.235-55516_235-55497dupCTTCCTTCCTTCCTTCCTTC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003148	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	56	0.0179	20	c.235 others(39): Show c.235-55552_235-55533dupTTTCTTTCTTTCTTTCTTTC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003212	A A	AGAAAGAA others(13): Show AGAAAGAAAGACAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0051 a0001c0001t0025g0051	1	56	0.0179	20	c.235 others(39): Show c.235-55597_235-55596insCTTCTTTCTGTCTTTCTTTC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212101345	C C	CTATACAT others(13): Show CTATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	56	0.0179	20	c.234 others(39): Show c.234+23387_234+23406dupTATATATATATATATGTATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212101350	C C	CATATATA others(13): Show CATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp2 HG01891.hp2 others(9): Show HG01175.hp2 HG01496.hp2 HG01891.hp2 HG02258.hp2 HG02895.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03834.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0019 a0001c0001t0025 a0001c0002t0013 a0001c0002t0018 a0002c0003t0001	a0001c0001t0002g0016 a0001c0001t0002g0047 a0001c0001t0003g0049 others(9): Show a0001c0001t0002g0016 a0001c0001t0002g0047 a0001c0001t0003g0049 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0009g0046 a0001c0001t0019g0002 a0001c0001t0025g0051 a0001c0002t0013g0027 a0001c0002t0018g0010 a0002c0003t0001g0014	12	56	0.2143	20	c.234 others(39): Show c.234+23401_234+23402insATGTATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212102090	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	56	0.0179	20	c.234 others(39): Show c.234+22642_234+22661dupTATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212188233	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0052 a0001c0001t0026g0052	1	56	0.0179	20	c.83- others(37): Show c.83-63331_83-63330insGGGGAGAGAGAGAGAGAGAG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212240637	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0055 a0001c0001t0027g0055	1	56	0.0179	20	c.83- others(39): Show c.83-115754_83-115735dupTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212286767	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	56	0.0179	20	c.83- others(39): Show c.83-161884_83-161865dupAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331071	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19043.hp2 HG01891.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0005g0035 a0001c0001t0005g0044	2	56	0.0357	20	c.83- others(39): Show c.83-206169_83-206168insGTATATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212374071	T T	TATATATA others(13): Show TATATATATCCATATATATCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19240.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0025 a0001c0001t0004g0008 a0001c0001t0002g0025 a0001c0001t0004g0008	2	56	0.0357	20	c.82+ others(39): Show c.82+164358_82+164377dupGGATATATATGGATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212474822	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	56	0.0179	20	c.82+ others(37): Show c.82+63626_82+63627insAAAAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212510205	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp2 HG01891.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0016 a0001c0001t0002 a0001c0002t0016	a0001c0001t0002g0025 a0001c0002t0016g0019 a0001c0001t0002g0025 a0001c0002t0016g0019	2	56	0.0357	20	c.82+ others(37): Show c.82+28224_82+28243dupTATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212513811	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0029 a0001c0001t0017g0029	1	56	0.0179	20	c.82+ others(37): Show c.82+24637_82+24638insTATTTATTTATTTATTTATT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212540894	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0009 a0001c0004t0021g0009	1	56	0.0179	20	c.-23 others(31): Show c.-2365_-2364insTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding		2093		chr2	TogoVar
ERBIN_chr5_65921575_66087546	65965382	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0199 a0002c0003t0005g0199	1	306	0.0033	20	c.-57 others(39): Show c.-57-23231_-57-23212dupTTTTTTTTTTTTTTTTTTTT	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(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp2 HG02109.hp2 others(27): Show HG00438.hp1 HG01069.hp2 HG02109.hp2 HG02602.hp2 HG02622.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03239.hp2 HG03516.hp1 HG03710.hp2 HG04115.hp2 HG06807.hp2 NA18942.hp2 NA18955.hp2 NA18961.hp1 NA18962.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp2 NA18992.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19057.hp2 NA19066.hp1 NA19068.hp2 NA19084.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0007 a0003c0004 others(1): Show a0001c0001 a0001c0007 a0003c0004 a0007c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0007t0010 a0001c0007t0012 a0003c0004t0001 a0003c0004t0017 a0003c0004t0021 a0007c0011t0011	a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0067 others(27): Show a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0234 a0001c0001t0001g0274 a0001c0001t0003g0113 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0013g0100 a0001c0007t0010g0162 a0001c0007t0010g0163 a0001c0007t0010g0164 a0001c0007t0010g0165 a0001c0007t0012g0220 a0003c0004t0001g0089 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0122 a0003c0004t0001g0137 a0003c0004t0001g0141 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0302 a0003c0004t0017g0121 a0003c0004t0021g0303 a0007c0011t0011g0024 a0007c0011t0011g0025	30	306	0.0980	20	c.-57 others(37): Show c.-57-1259_-57-1240dupACACACACACACACACACAC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1007540	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01496.hp1 HG02622.hp1 others(3): Show HG00140.hp2 HG01496.hp1 HG02622.hp1 HG02809.hp1 HG02970.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0043 a0001c0001t0071 others(3): Show a0001c0001t0004 a0001c0001t0043 a0001c0001t0071 a0002c0002t0038 a0002c0002t0065 a0002c0002t0075	a0001c0001t0004g0075 a0001c0001t0043g0084 a0001c0001t0071g0074 others(3): Show a0001c0001t0004g0075 a0001c0001t0043g0084 a0001c0001t0071g0074 a0002c0002t0038g0082 a0002c0002t0065g0072 a0002c0002t0075g0073	6	162	0.0370	20	c.-15 others(41): Show c.-157+16219_-157+16220insCTCTCTCTCTCTGTGTGTGT	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(13): Show CTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0044 a0008c0011t0044	a0008c0011t0044g0068 a0008c0011t0044g0068	1	162	0.0062	20	c.-15 others(41): Show c.-157+16219_-157+16220insCTCTGTGTGTGTGTGTGTGT	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(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp1 HG01261.hp2 others(7): Show HG01175.hp1 HG01256.hp1 HG01261.hp2 HG01517.hp1 HG02717.hp1 HG03516.hp1 HG03654.hp2 HG03927.hp1 NA18949.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0002 a0001c0001 a0001c0013 a0002c0002	a0001c0001t0008 a0001c0001t0013 a0001c0001t0027 others(6): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0027 a0001c0001t0069 a0001c0001t0097 a0001c0001t0107 a0001c0001t0141 a0001c0013t0063 a0002c0002t0047	a0001c0001t0008g0086 a0001c0001t0013g0005 a0001c0001t0013g0015 others(7): Show a0001c0001t0008g0086 a0001c0001t0013g0005 a0001c0001t0013g0015 a0001c0001t0027g0119 a0001c0001t0069g0092 a0001c0001t0097g0031 a0001c0001t0107g0006 a0001c0001t0141g0002 a0001c0013t0063g0077 a0002c0002t0047g0104	10	162	0.0617	20	c.108 others(41): Show c.1086+10386_1086+10405dupTATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121839	C C	CTCTATCT others(13): Show CTCTATCTCTATCTCTATCTG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0156 a0001c0001t0057g0156	1	162	0.0062	20	c.156 others(39): Show c.1569+5807_1569+5808insCTATCTCTATCTCTATCTGT	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(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0141 a0001c0001t0058g0141	1	162	0.0062	20	c.173 others(39): Show c.1737+2828_1737+2847dupTATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1164231	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01346.hp1 HG02155.hp2 others(1): Show HG00639.hp2 HG01346.hp1 HG02155.hp2 HG03516.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0007 a0005c0010 a0001c0001 a0002c0007 a0005c0010	a0001c0001t0030 a0001c0001t0040 a0002c0007t0059 others(1): Show a0001c0001t0030 a0001c0001t0040 a0002c0007t0059 a0005c0010t0082	a0001c0001t0030g0109 a0001c0001t0040g0150 a0002c0007t0059g0071 others(1): Show a0001c0001t0030g0109 a0001c0001t0040g0150 a0002c0007t0059g0071 a0005c0010t0082g0126	4	162	0.0247	20	c.173 others(41): Show c.1738-16292_1738-16273dupTTTATTTTATTTTATTTTAT	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(13): Show CTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 NA21309.hp1 HG00323.hp2 HG00639.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024	a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0024g0112 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0024g0112	3	162	0.0185	20	c.235 others(39): Show c.2351+6791_2351+6792insCTCTCTCTCTGTCTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1216601	T T	TCGGGGAG others(13): Show TCGGGGAGGAGGGATGGGGGG	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	20	c.235 others(41): Show c.2352-20167_2352-20148dupCGGGGAGGAGGGATGGGGGG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1216601	T T	TGGGGGAG others(13): Show TGGGGGAGGAGGGATGGGGGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0141 a0001c0001t0058g0141	1	162	0.0062	20	c.235 others(41): Show c.2352-20168_2352-20167insGGGGGAGGAGGGATGGGGGG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1216607	A A	AGGAGGGA others(13): Show AGGAGGGATGGGGGGCGGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp2 HG01346.hp2 others(7): Show HG00408.hp2 HG01109.hp2 HG01346.hp2 HG02602.hp1 HG02615.hp1 HG02723.hp1 HG03927.hp2 HG04199.hp2 NA18612.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0011 a0001c0001t0019 a0001c0001t0086 others(7): Show a0001c0001t0011 a0001c0001t0019 a0001c0001t0086 a0001c0001t0103 a0001c0001t0108 a0001c0001t0120 a0001c0003t0022 a0002c0002t0026 a0002c0002t0072 a0002c0002t0102	a0001c0001t0011g0034 a0001c0001t0019g0120 a0001c0001t0086g0060 others(7): Show a0001c0001t0011g0034 a0001c0001t0019g0120 a0001c0001t0086g0060 a0001c0001t0103g0132 a0001c0001t0108g0064 a0001c0001t0120g0024 a0001c0003t0022g0114 a0002c0002t0026g0115 a0002c0002t0072g0145 a0002c0002t0102g0055	10	162	0.0617	20	c.235 others(41): Show c.2352-20148_2352-20147insCGGGGGGGAGGGATGGGGGG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1216613	G G	GATGGGGG others(13): Show GATGGGGGGCGGGGGGGAGGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0025 a0009c0009t0025	a0009c0009t0025g0110 a0009c0009t0025g0110	1	162	0.0062	20	c.235 others(41): Show c.2352-20148_2352-20147insCGGGGGGGAGGAATGGGGGG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1274480	T T	TTTATTTT others(13): Show TTTATTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19030.hp1 HG01081.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0099 a0002c0002t0089 a0002c0002t0099	a0002c0002t0089g0037 a0002c0002t0099g0131 a0002c0002t0089g0037 a0002c0002t0099g0131	2	162	0.0124	20	c.261 others(41): Show c.2619+11317_2619+11318insATTTTATTTATTTATTTATT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1310214	A A	ATTTTGTT others(13): Show ATTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01952.hp2 others(12): Show HG00323.hp2 HG00639.hp1 HG01952.hp2 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG03654.hp2 NA18612.hp2 NA18949.hp1 NA18966.hp2 NA18982.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 others(12): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0034 a0001c0001t0057 a0001c0001t0068 a0001c0001t0106 a0001c0001t0119 a0002c0002t0005 a0002c0002t0052 a0002c0002t0085 a0002c0006t0051	a0001c0001t0011g0034 a0001c0001t0013g0015 a0001c0001t0020g0113 others(12): Show a0001c0001t0011g0034 a0001c0001t0013g0015 a0001c0001t0020g0113 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0031g0118 a0001c0001t0034g0161 a0001c0001t0057g0156 a0001c0001t0068g0083 a0001c0001t0106g0003 a0001c0001t0119g0061 a0002c0002t0005g0133 a0002c0002t0052g0154 a0002c0002t0085g0142 a0002c0006t0051g0081	15	162	0.0926	20	c.278 others(41): Show c.2780+20206_2780+20207insGTTTTGTTTTGTTTTGTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1402614	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0070 a0002c0002t0070	a0002c0002t0070g0138 a0002c0002t0070g0138	1	162	0.0062	20	c.292 others(39): Show c.2926-5523_2926-5504dupCACACACACACACACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418666	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0003 a0001c0001t0106g0003	1	162	0.0062	20	c.302 others(41): Show c.3024+10459_3024+10478dupCTTTCTTTCTTTCTTTCTTT	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(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02602.hp1 HG02735.hp1 others(4): Show HG01346.hp1 HG02602.hp1 HG02735.hp1 HG02896.hp2 HG03139.hp1 HG03139.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0040 a0001c0001t0045 a0001c0001t0068 others(3): Show a0001c0001t0040 a0001c0001t0045 a0001c0001t0068 a0001c0001t0103 a0002c0002t0016 a0002c0002t0140	a0001c0001t0040g0150 a0001c0001t0045g0066 a0001c0001t0068g0083 others(4): Show a0001c0001t0040g0150 a0001c0001t0045g0066 a0001c0001t0068g0083 a0001c0001t0103g0132 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0140g0108	7	162	0.0432	20	c.321 others(41): Show c.3213+18963_3213+18982dupGTGTGTGTGTGTGTGTGTGT	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(13): Show AATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0084 a0002c0002t0084	a0002c0002t0084g0025 a0002c0002t0084g0025	1	162	0.0062	20	c.33 others(31): Show c.3317_*3318insTATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3318	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG03225.hp2 HG02970.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0075 a0001c0001t0004g0078	2	162	0.0124	20	c.33 others(31): Show c.3319_*3320insAAAATATATATATATATATA	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(13): Show AAAATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0041 a0006c0008t0041	a0006c0008t0041g0140 a0006c0008t0041g0140	1	162	0.0062	20	c.33 others(31): Show c.3319_*3320insAATATATATATATATATATA	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(13): Show AATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0102 a0001c0001t0130g0102	1	162	0.0062	20	c.33 others(31): Show c.3329_*3348dupATATATATATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3349	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55539415	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0039 a0002c0003t0001g0039	1	74	0.0135	20	c.40 others(39): Show c.40-28159_*40-28140dupAAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55553011	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02258.hp1 HG01169.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0015 a0001c0001t0001g0048	2	74	0.0270	20	c.40 others(39): Show c.40-41755_*40-41736dupAAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55583403	C C	CTTCCTTC others(13): Show CTTCCTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	74	0.0135	20	c.40 others(39): Show c.40-72128_*40-72127insAGAAGGAAGGAAGGAAGGAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55583523	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	74	0.0135	20	c.40 others(39): Show c.40-72248_*40-72247insAAGGGAGGGAGGGAGGGAGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55583523	C C	CCCTCCCT others(13): Show CCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	74	0.0135	20	c.40 others(39): Show c.40-72248_*40-72247insAAGGAAGGAAGGAAGGGAGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56023767	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02647.hp2 HG02965.hp1 HG00741.hp1 HG02647.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0013 a0002c0003t0001 a0001c0001t0002 a0001c0002t0013 a0002c0003t0001	a0001c0001t0002g0072 a0001c0002t0013g0074 a0002c0003t0001g0039 a0001c0001t0002g0072 a0001c0002t0013g0074 a0002c0003t0001g0039	3	74	0.0405	20	c.164 others(39): Show c.1642-4737_1642-4736insCCTTCCTTCCTTCCTTCCTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56023774	T T	TGAAGGAA others(13): Show TGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02145.hp1 HG03098.hp1 others(4): Show HG02040.hp1 HG02145.hp1 HG03098.hp1 HG03831.hp1 NA19030.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0003c0005t0003	a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0002g0055 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0002g0055 a0001c0001t0003g0068 a0001c0001t0007g0024 a0001c0001t0012g0023 a0003c0005t0003g0065	7	74	0.0946	20	c.164 others(39): Show c.1642-4763_1642-4744dupCTTCCTTCCTTCCTTCCTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56033030	C C	CAGAAAGA others(13): Show CAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	74	0.0135	20	c.164 others(41): Show c.1642-14019_1642-14000dupTTCTTTCTTTCTTTCTTTCT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56126807	G G	GAAGGAAA others(13): Show GAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG03098.hp2 others(4): Show HG00741.hp2 HG01167.hp1 HG03098.hp2 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0004 a0001c0001t0002g0005 a0001c0001t0003g0068 others(4): Show a0001c0001t0001g0004 a0001c0001t0002g0005 a0001c0001t0003g0068 a0001c0001t0009g0073 a0001c0002t0001g0017 a0001c0002t0002g0016 a0001c0002t0003g0018	7	74	0.0946	20	c.147 others(41): Show c.1473+12682_1473+12701dupTCCTTTCCTTTCCTTTCCTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56126860	G G	GGAAAGGA others(13): Show GGAAAGGAAAGGAAAGGAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	74	0.0135	20	c.147 others(41): Show c.1473+12648_1473+12649insTTTTCCTTTCCTTTCCTTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56204476	C C	CTTTTATT others(13): Show CTTTTATTTTATTGTATTTTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0060 a0004c0006t0004g0060	1	74	0.0135	20	c.107 others(41): Show c.1075-30957_1075-30956insTAAAATACAATAAAATAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56204476	C C	CTTTTATT others(13): Show CTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03130.hp2 NA19030.hp2 HG01069.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0002g0054 a0001c0001t0005g0053 a0001c0002t0001g0017 a0001c0001t0002g0054 a0001c0001t0005g0053 a0001c0002t0001g0017	3	74	0.0405	20	c.107 others(41): Show c.1075-30976_1075-30957dupTAAAATAAAATAAAATAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56313001	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	74	0.0135	20	c.658 others(39): Show c.658-16586_658-16567dupATATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar

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