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
EPSTI1_chr13_42881388_42997241	42968954	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18940.hp1 NA18960.hp2 HG00423.hp2 NA18940.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0001 a0001c0002t0005 a0001c0001t0013 a0001c0002t0001 a0001c0002t0005	a0001c0001t0013g0131 a0001c0002t0001g0114 a0001c0002t0005g0127 a0001c0001t0013g0131 a0001c0002t0001g0114 a0001c0002t0005g0127	3	352	0.0085	13	c.331 others(28): Show c.331+139_331+140insGTGTGTGTGTGTG	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
EPX_chr17_58187726_58210174	58194530	A A	ATTAATTA others(6): Show ATTAATTAATTTTC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0031 a0031	a0031c0034 a0031c0034	a0031c0034t0001 a0031c0034t0001	a0031c0034t0001g0074 a0031c0034t0001g0074	1	404	0.0025	13	c.595 others(28): Show c.595-431_595-419dupAATTAATTTTCTT	EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERAP2_chr5_96871500_96924703	96874138	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	398	0.0025	13	c.-25 others(24): Show c.-2512_-2511insAAAGAAAGAAAGA	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding		2361		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96899289	T T	TCCCACCC others(6): Show TCCCACCCCCCTCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0070 a0002c0002t0017g0070	1	398	0.0025	13	c.150 others(30): Show c.1504-829_1504-828insACCCCCCTCCCCC	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERAP2_chr5_96871500_96924703	96911866	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	398	0.0025	13	c.235 others(30): Show c.2355-768_2355-756dupAAAAAAAAAAAAA	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	318	0.0031	13	c.230 others(30): Show c.2307+266_2307+278dupTTTTTTTTTTTTT	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB3_chr12_56075165_56108505	56091300	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0047 a0002c0003t0003g0047	1	392	0.0026	13	c.111 others(32): Show c.1110-1447_1110-1446insTATATATATATAT	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27			chr12	TogoVar
ERBB3_chr12_56075165_56108505	56100125	T T	TGTAAGCT others(6): Show TGTAAGCTGGTGTA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0002 a0011c0013t0002	a0011c0013t0002g0115 a0011c0013t0002g0115	1	392	0.0026	13	c.313 others(28): Show c.3130-46_3130-45insAGCTGGTGTAGTA	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBB4_chr2_211370717_212543802	211560262	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0051 a0001c0001t0025g0051	1	56	0.0179	13	c.248 others(32): Show c.2487+1628_2487+1640dupAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211597667	C C	CTTTTACA others(6): Show CTTTTACATATTTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01175.hp1 others(51): Show HG01069.hp1 HG01069.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0013 a0001c0002t0016 a0001c0002t0018 a0001c0004t0021 a0002c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 others(51): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0033 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0006g0026 a0001c0001t0006g0039 a0001c0001t0007g0018 a0001c0001t0007g0043 a0001c0001t0008g0004 a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0010g0005 a0001c0001t0010g0022 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0012g0001 a0001c0001t0014g0007 a0001c0001t0015g0034 a0001c0001t0017g0029 a0001c0001t0019g0002 a0001c0001t0020g0028 a0001c0001t0022g0006 a0001c0001t0023g0012 a0001c0001t0024g0038 a0001c0001t0026g0052 a0001c0001t0027g0055 a0001c0001t0028g0053 a0001c0001t0029g0054 a0001c0001t0030g0056 a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0013g0027 a0001c0002t0016g0019 a0001c0002t0018g0010 a0001c0004t0021g0009 a0002c0003t0001g0014	54	56	0.9643	13	c.230 others(34): Show c.2301+21509_2301+21510insTAAATATGTAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673517	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	56	0.0179	13	c.162 others(30): Show c.1623-273_1623-261dupTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211721443	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03195.hp2 NA19240.hp1 HG02895.hp2 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0025 a0001c0001t0003g0050 a0001c0001t0007g0043 a0001c0001t0002g0025 a0001c0001t0003g0050 a0001c0001t0007g0043	3	56	0.0536	13	c.883 others(28): Show c.883+937_883+949dupTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	7/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211934926	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	56	0.0179	13	c.421 others(32): Show c.421+12491_421+12503dupTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211977531	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02965.hp2 HG03225.hp2 others(1): Show HG02895.hp2 HG02965.hp2 HG03225.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011	a0001c0001t0004g0011 a0001c0001t0006g0039 a0001c0001t0007g0043 others(1): Show a0001c0001t0004g0011 a0001c0001t0006g0039 a0001c0001t0007g0043 a0001c0001t0011g0041	4	56	0.0714	13	c.235 others(32): Show c.235-29928_235-29916dupTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212187421	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0027 a0001c0002t0013g0027	1	56	0.0179	13	c.83- others(30): Show c.83-62519_83-62518insTATTTATTTATTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212188233	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	56	0.0179	13	c.83- others(30): Show c.83-63331_83-63330insGGGAGAGAGAGAG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212240637	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	56	0.0179	13	c.83- others(32): Show c.83-115747_83-115735dupTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212240665	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19240.hp1 HG02717.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0050 a0001c0001t0003g0017 a0001c0001t0003g0050	2	56	0.0357	13	c.83- others(32): Show c.83-115763_83-115762insGTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212267597	C C	CTTTTTTT others(6): Show CTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0029 a0001c0001t0017g0029	1	56	0.0179	13	c.83- others(32): Show c.83-142695_83-142694insAAGAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212286767	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01891.hp2 HG03239.hp2 others(1): Show HG01175.hp1 HG01891.hp2 HG03239.hp2 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0001t0015 a0001c0002t0001 others(1): Show a0001c0001t0005 a0001c0001t0015 a0001c0002t0001 a0002c0003t0001	a0001c0001t0005g0035 a0001c0001t0015g0034 a0001c0002t0001g0031 others(1): Show a0001c0001t0005g0035 a0001c0001t0015g0034 a0001c0002t0001g0031 a0002c0003t0001g0014	4	56	0.0714	13	c.83- others(32): Show c.83-161877_83-161865dupAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212474822	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	56	0.0179	13	c.82+ others(30): Show c.82+63614_82+63626dupAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212474839	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0009 a0001c0004t0021g0009	1	56	0.0179	13	c.82+ others(30): Show c.82+63609_82+63610insCAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65965382	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01934.hp1 HG01081.hp1 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0185 a0002c0003t0005g0186 a0002c0003t0005g0185 a0002c0003t0005g0186	2	306	0.0065	13	c.-57 others(32): Show c.-57-23224_-57-23212dupTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1126986	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 HG02559.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0133 a0002c0002t0127 a0001c0001t0133 a0002c0002t0127	a0001c0001t0133g0094 a0002c0002t0127g0155 a0001c0001t0133g0094 a0002c0002t0127g0155	2	162	0.0124	13	c.156 others(34): Show c.1569+10968_1569+10980dupAAAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1146308	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0059 a0002c0007t0059	a0002c0007t0059g0071 a0002c0007t0059g0071	1	162	0.0062	13	c.173 others(32): Show c.1737+4534_1737+4546dupTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196806	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	162	0.0062	13	c.235 others(32): Show c.2351+6754_2351+6755insCTCTCTCTCTCTC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1208957	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0039 a0001c0001t0074g0039	1	162	0.0062	13	c.235 others(34): Show c.2351+18922_2351+18934dupTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1225449	T T	TAAAACAC others(6): Show TAAAACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02735.hp1 NA19030.hp1 HG01261.hp1 HG02735.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0068 a0001c0001t0132 a0002c0002t0089 a0001c0001t0068 a0001c0001t0132 a0002c0002t0089	a0001c0001t0068g0083 a0001c0001t0132g0103 a0002c0002t0089g0037 a0001c0001t0068g0083 a0001c0001t0132g0103 a0002c0002t0089g0037	3	162	0.0185	13	c.235 others(34): Show c.2352-11319_2352-11318insAAACACACACACA	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0039 a0001c0001t0074g0039	1	162	0.0062	13	c.248 others(32): Show c.2488-7396_2488-7384dupTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1341069	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0031 a0001c0001t0097g0031	1	162	0.0062	13	c.278 others(34): Show c.2781-30734_2781-30722dupTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1345187	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01261.hp1 others(15): Show HG00323.hp2 HG00639.hp1 HG01261.hp1 HG01884.hp1 HG01952.hp2 HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02895.hp2 HG03139.hp1 HG03927.hp2 NA18612.hp2 NA18949.hp1 NA18966.hp2 NA18982.hp2 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0020 others(15): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0034 a0001c0001t0045 a0001c0001t0057 a0001c0001t0106 a0001c0001t0108 a0001c0001t0119 a0001c0001t0132 a0001c0001t0138 a0002c0002t0005 a0002c0002t0017 a0002c0002t0085	a0001c0001t0001g0080 a0001c0001t0011g0034 a0001c0001t0020g0113 others(15): Show a0001c0001t0001g0080 a0001c0001t0011g0034 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0031g0118 a0001c0001t0034g0161 a0001c0001t0045g0066 a0001c0001t0057g0156 a0001c0001t0106g0003 a0001c0001t0108g0064 a0001c0001t0119g0061 a0001c0001t0132g0103 a0001c0001t0138g0095 a0002c0002t0005g0133 a0002c0002t0017g0097 a0002c0002t0085g0142	18	162	0.1111	13	c.278 others(34): Show c.2781-26635_2781-26634insTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1346948	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01891.hp1 others(13): Show HG00140.hp1 HG01081.hp1 HG01891.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03579.hp1 HG06807.hp1 NA19043.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0005 a0001c0001t0014 a0001c0001t0049 others(13): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0049 a0001c0001t0062 a0001c0001t0074 a0001c0001t0133 a0001c0003t0022 a0001c0003t0046 a0002c0002t0035 a0002c0002t0038 a0002c0002t0042 a0002c0002t0060 a0002c0002t0064 a0002c0002t0099 a0007c0012t0073 a0008c0011t0044	a0001c0001t0005g0041 a0001c0001t0014g0036 a0001c0001t0049g0157 others(13): Show a0001c0001t0005g0041 a0001c0001t0014g0036 a0001c0001t0049g0157 a0001c0001t0062g0147 a0001c0001t0074g0039 a0001c0001t0133g0094 a0001c0003t0022g0114 a0001c0003t0046g0088 a0002c0002t0035g0143 a0002c0002t0038g0082 a0002c0002t0042g0079 a0002c0002t0060g0040 a0002c0002t0064g0069 a0002c0002t0099g0131 a0007c0012t0073g0067 a0008c0011t0044g0068	16	162	0.0988	13	c.278 others(34): Show c.2781-24884_2781-24872dupAAAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1356212	A A	AGTGTGTG others(6): Show AGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02970.hp2 HG01346.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0040 a0002c0002t0135 a0001c0001t0040 a0002c0002t0135	a0001c0001t0040g0150 a0002c0002t0135g0093 a0001c0001t0040g0150 a0002c0002t0135g0093	2	162	0.0124	13	c.278 others(34): Show c.2781-15621_2781-15620insGTGTGTGTGTGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1386651	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02615.hp2 others(8): Show HG01496.hp2 HG02257.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG03579.hp1 HG03654.hp2 HG06807.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0007c0012 a0008c0011	a0001c0001t0013 a0001c0001t0049 a0001c0001t0068 others(8): Show a0001c0001t0013 a0001c0001t0049 a0001c0001t0068 a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 a0002c0002t0038 a0002c0002t0076 a0002c0002t0084 a0007c0012t0073 a0008c0011t0044	a0001c0001t0013g0015 a0001c0001t0049g0157 a0001c0001t0068g0083 others(8): Show a0001c0001t0013g0015 a0001c0001t0049g0157 a0001c0001t0068g0083 a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 a0002c0002t0038g0082 a0002c0002t0076g0146 a0002c0002t0084g0025 a0007c0012t0073g0067 a0008c0011t0044g0068	11	162	0.0679	13	c.292 others(34): Show c.2925+14676_2925+14688dupAAAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1402614	A A	AACACCAC others(6): Show AACACCACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0060 a0002c0002t0060	a0002c0002t0060g0040 a0002c0002t0060g0040	1	162	0.0062	13	c.292 others(32): Show c.2926-5531_2926-5530insCACACACACACAC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1487539	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02809.hp2 HG02818.hp1 others(1): Show HG01433.hp2 HG02809.hp2 HG02818.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0023 a0002c0002t0037 others(1): Show a0001c0001t0009 a0001c0001t0023 a0002c0002t0037 a0002c0002t0128	a0001c0001t0009g0007 a0001c0001t0023g0162 a0002c0002t0037g0042 others(1): Show a0001c0001t0009g0007 a0001c0001t0023g0162 a0002c0002t0037g0042 a0002c0002t0128g0054	4	162	0.0247	13	c.321 others(32): Show c.3214-2548_3214-2547insAAAAAAAAAAAAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1493546	A A	ATATATAT others(6): Show ATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02970.hp2 HG01109.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0135 a0002c0002t0026 a0002c0002t0135	a0002c0002t0026g0115 a0002c0002t0135g0093 a0002c0002t0026g0115 a0002c0002t0135g0093	2	162	0.0124	13	c.33 others(24): Show c.3316_*3317insTATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3317		chr12	TogoVar
ERC1_chr12_986223_1500931	1493548	A A	ATATATAT others(6): Show ATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01515.hp1 HG01517.hp2 HG01106.hp2 HG01515.hp1 HG01517.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0105 a0001c0001t0007 a0002c0002t0105	a0001c0001t0007g0044 a0001c0001t0007g0048 a0002c0002t0105g0148 a0001c0001t0007g0044 a0001c0001t0007g0048 a0002c0002t0105g0148	3	162	0.0185	13	c.33 others(24): Show c.3318_*3319insTATATATATATAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3319		chr12	TogoVar
ERC2_chr3_55503311_56473467	55539415	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0069 a0001c0001t0005g0053 a0001c0001t0003g0069 a0001c0001t0005g0053	2	74	0.0270	13	c.40 others(32): Show c.40-28152_*40-28140dupAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55553011	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02738.hp2 HG03195.hp2 others(1): Show HG01346.hp1 HG02738.hp2 HG03195.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0003t0003	a0001c0001t0001g0052 a0001c0001t0003g0051 a0001c0002t0001g0006 others(1): Show a0001c0001t0001g0052 a0001c0001t0003g0051 a0001c0002t0001g0006 a0002c0003t0003g0025	4	74	0.0541	13	c.40 others(32): Show c.40-41748_*40-41736dupAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55729837	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp1 HG03831.hp2 others(1): Show HG02809.hp2 HG03225.hp1 HG03831.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0013 a0001c0001t0002g0049 a0001c0001t0002g0057 others(1): Show a0001c0001t0001g0013 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0002t0003g0018	4	74	0.0541	13	c.271 others(32): Show c.2712+4921_2712+4933dupTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56276459	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG03540.hp1 HG02630.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0042 a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0042	3	74	0.0405	13	c.107 others(34): Show c.1074+19547_1074+19559dupTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56340579	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0047 a0001c0001t0011g0047	1	74	0.0135	13	c.658 others(32): Show c.658-44145_658-44144insCACACACACACAC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02897.hp1 NA18994.hp1 others(1): Show HG00642.hp1 HG02897.hp1 NA18994.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0224 others(1): Show a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0224 a0001c0001t0001g0238	4	420	0.0095	13	c.844 others(28): Show c.844-841_844-840insCACACACACACAC	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC3_chr2_127252290_127299144	127296002	A A	AAAAAAAA others(6): Show AAAAAAAAAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	350	0.0029	13	c.-19 others(24): Show c.-1922_-1921insCTCTTTTTTTTTT	ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding		1859		chr2	TogoVar
ERCC6L2_chr9_95870691_96023447	95952166	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02145.hp1 others(9): Show HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp1 NA18956.hp2 NA18991.hp2 NA18995.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0028	a0001c0001 a0002c0002 a0009c0011 others(1): Show a0001c0001 a0002c0002 a0009c0011 a0028c0033	a0001c0001t0001 a0001c0001t0022 a0001c0001t0045 others(5): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0045 a0001c0001t0069 a0001c0001t0091 a0002c0002t0003 a0009c0011t0020 a0028c0033t0094	a0001c0001t0001g0025 a0001c0001t0001g0071 a0001c0001t0022g0005 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0071 a0001c0001t0022g0005 a0001c0001t0022g0136 a0001c0001t0045g0105 a0001c0001t0069g0216 a0001c0001t0091g0139 a0002c0002t0003g0341 a0009c0011t0020g0015 a0028c0033t0094g0207	12	392	0.0306	13	c.184 others(32): Show c.1848-3741_1848-3729dupAAAAAAAAAAAAA	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L_chrX_72199665_72244027	72233721	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	286	0.0035	13	c.68+ others(28): Show c.68+5122_68+5123insTTTTTTTTTTTTT	ERCC6L	ENSG00000186871.7	transcript	ENST00000334463.4	protein_coding	1/1			chrX	TogoVar
ERCC8_chr5_60861454_60950070	60909243	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0028 a0001c0001t0010g0028	1	302	0.0033	13	c.400 others(30): Show c.400-4383_400-4371dupTTTTTTTTTTTTT	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	4/11			chr5	TogoVar
EREG_chr4_74360145_74393749	74363493	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG00738.hp1 others(17): Show HG00140.hp1 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02451.hp2 HG02723.hp2 HG03654.hp1 HG03831.hp1 HG06807.hp1 NA18945.hp1 NA18945.hp2 NA18975.hp1 NA18978.hp2 NA18995.hp1 NA19078.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0024 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0016g0201 a0001c0001t0024g0117 a0001c0002t0002g0010 a0001c0002t0002g0027 a0001c0002t0004g0111	20	358	0.0559	13	c.-18 others(24): Show c.-1816_-1815insTTTTTTTTTTTTT	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		1651		chr4	TogoVar
ERGIC1_chr5_172829251_172957683	172908318	G G	GGGGGGGG others(6): Show GGGGGGGGGGCGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01358.hp1 others(4): Show HG00323.hp2 HG00544.hp2 HG01358.hp1 HG03491.hp2 NA18961.hp1 NA18969.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0242	7	334	0.0210	13	c.156 others(30): Show c.156-1349_156-1348insGGGGGGGGGCGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar

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