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
ERBB2_chr17_39695064_39733658	39724272	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0129 a0002c0002t0001g0129	1	318	0.0031	24	c.230 others(41): Show c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTT	ERBB2	ENSG00000141736.14	transcript	ENST00000269571.10	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB3_chr12_56075165_56108505	56091266	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG02559.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0326 a0001c0001t0002g0319 a0001c0001t0002g0326	2	392	0.0051	24	c.111 others(43): Show c.1110-1474_1110-1451dupTATATATATATATATATATATATA	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	9/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERBB4_chr2_211370717_212543802	211513357	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	56	0.0179	24	c.248 others(45): Show c.2487+48545_2487+48546insTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211515912	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0010 a0001c0002t0018g0010	1	56	0.0179	24	c.248 others(45): Show c.2487+45990_2487+45991insAAAATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211599513	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01175.hp1 others(11): Show HG01069.hp1 HG01069.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01496.hp1 HG01891.hp2 HG02145.hp2 HG02809.hp2 HG03239.hp1 HG03834.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0018	a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0003g0040 others(11): Show a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0003g0040 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0008g0004 a0001c0001t0029g0054 a0001c0001t0030g0056 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0018g0010	14	56	0.2500	24	c.230 others(45): Show c.2301+19663_2301+19664insCACACACACACACACACACACACA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	19/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211673517	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19030.hp2 NA19043.hp2 HG02145.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0003g0049 a0001c0001t0005g0044 a0001c0002t0001g0020 a0001c0001t0003g0049 a0001c0001t0005g0044 a0001c0002t0001g0020	3	56	0.0536	24	c.162 others(41): Show c.1623-261_1623-260insTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	13/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211709274	T T	TATATATA others(17): Show TATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	1	56	0.0179	24	c.112 others(43): Show c.1124+2775_1124+2776insGTATATATATATATGTATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	9/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211934926	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03834.hp2 HG03516.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0021 a0001c0001t0002 a0001c0004t0021	a0001c0001t0002g0016 a0001c0004t0021g0009 a0001c0001t0002g0016 a0001c0004t0021g0009	2	56	0.0357	24	c.421 others(43): Show c.421+12503_421+12504insTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211940006	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	56	0.0179	24	c.421 others(41): Show c.421+7423_421+7424insGTCTATCTATCTATCTATCTATCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003099	C C	CAGAAAGA others(17): Show CAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0052 a0001c0001t0026g0052	1	56	0.0179	24	c.235 others(43): Show c.235-55484_235-55483insTTCTTTCTTTCTTTCTTTCTTTCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003112	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0014 a0002c0003t0001g0014	1	56	0.0179	24	c.235 others(43): Show c.235-55520_235-55497dupCTTCCTTCCTTCCTTCCTTCCTTC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003164	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0010 a0001c0002t0018g0010	1	56	0.0179	24	c.235 others(43): Show c.235-55549_235-55548insCTTCCTTCCTTCCTTCCTTCCTTC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003198	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	56	0.0179	24	c.235 others(43): Show c.235-55583_235-55582insCCTTTCTTTCTTTCTTTCTTTCTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212101350	C C	CATATATA others(17): Show CATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	56	0.0179	24	c.234 others(43): Show c.234+23401_234+23402insATATATGTATATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212102088	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	56	0.0179	24	c.234 others(43): Show c.234+22663_234+22664insTATATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212331058	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0014 a0002c0003t0001g0014	1	56	0.0179	24	c.83- others(43): Show c.83-206156_83-206155insTATATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212373826	T T	TATATATA others(17): Show TATATATATATCCATGTATATATCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0029 a0001c0001t0017g0029	1	56	0.0179	24	c.82+ others(43): Show c.82+164622_82+164623insGGATATATACATGGATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212510205	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp1 HG03471.hp2 HG02145.hp1 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0026 a0001c0002t0001 a0001c0001t0001 a0001c0001t0026 a0001c0002t0001	a0001c0001t0001g0021 a0001c0001t0026g0052 a0001c0002t0001g0020 a0001c0001t0001g0021 a0001c0001t0026g0052 a0001c0002t0001g0020	3	56	0.0536	24	c.82+ others(41): Show c.82+28220_82+28243dupTATATATATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212540894	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02258.hp1 HG02258.hp2 HG01175.hp2 HG02258.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001	a0001c0001t0005g0015 a0001c0001t0009g0046 a0001c0002t0001g0048 a0001c0001t0005g0015 a0001c0001t0009g0046 a0001c0002t0001g0048	3	56	0.0536	24	c.-23 others(35): Show c.-2365_-2364insTTTTTTTTTTTTTTTTTTTTTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding		2093		chr2	TogoVar
ERBIN_chr5_65921575_66087546	65965382	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0179 a0002c0003t0008g0179	1	306	0.0033	24	c.-57 others(43): Show c.-57-23235_-57-23212dupTTTTTTTTTTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65977958	G G	GGGGAGAG others(17): Show GGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG02451.hp1 others(3): Show HG01109.hp2 HG01243.hp2 HG02451.hp1 HG03225.hp2 HG03540.hp2 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0015 a0005c0006t0007 a0005c0006t0015	a0005c0006t0007g0221 a0005c0006t0007g0222 a0005c0006t0007g0224 others(3): Show a0005c0006t0007g0221 a0005c0006t0007g0222 a0005c0006t0007g0224 a0005c0006t0007g0226 a0005c0006t0007g0230 a0005c0006t0015g0225	6	306	0.0196	24	c.-57 others(43): Show c.-57-10671_-57-10648dupAGGGAGAGGGAGAGGGAGAGGGAG	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(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03834.hp1 NA18955.hp1 others(1): Show HG03710.hp1 HG03834.hp1 NA18955.hp1 NA19010.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0009 a0003c0004t0001 a0001c0001t0001 a0001c0001t0009 a0003c0004t0001	a0001c0001t0001g0085 a0001c0001t0001g0118 a0001c0001t0009g0036 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0118 a0001c0001t0009g0036 a0003c0004t0001g0094	4	306	0.0131	24	c.-57 others(41): Show c.-57-1263_-57-1240dupACACACACACACACACACACACAC	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018480	T T	TTATATTA others(17): Show TTATATTATATATTATATAATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	306	0.0033	24	c.534 others(41): Show c.534-2837_534-2836insTATATATTATATAATATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1007540	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG01884.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0042 a0001c0001t0001 a0002c0002t0042	a0001c0001t0001g0080 a0002c0002t0042g0079 a0001c0001t0001g0080 a0002c0002t0042g0079	2	162	0.0124	24	c.-15 others(45): Show c.-157+16219_-157+16220insCTCTCTCTCTCTCTCTCTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1093942	A A	AATATATA others(17): Show AATATATATATTTTTCTATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0141 a0001c0001t0058g0141	1	162	0.0062	24	c.108 others(45): Show c.1086+10373_1086+10396dupTTTTCTATATATATATATATATAT	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(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02976.hp1 NA19090.hp1 others(1): Show HG00738.hp1 HG02976.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0014 a0002c0002t0042	a0001c0001t0003g0029 a0001c0001t0012g0022 a0001c0001t0014g0036 others(1): Show a0001c0001t0003g0029 a0001c0001t0012g0022 a0001c0001t0014g0036 a0002c0002t0042g0079	4	162	0.0247	24	c.108 others(45): Show c.1086+10382_1086+10405dupTATATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121825	G G	GTCTCTAT others(17): Show GTCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02451.hp2 others(2): Show HG01109.hp1 HG02109.hp1 HG02451.hp2 HG02559.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0039 others(1): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0039 a0002c0002t0080	a0002c0002t0001g0152 a0002c0002t0006g0122 a0002c0002t0006g0125 others(2): Show a0002c0002t0001g0152 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0039g0151 a0002c0002t0080g0127	5	162	0.0309	24	c.156 others(43): Show c.1569+5807_1569+5808insCTATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122133	A A	ATCTCTAT others(17): Show ATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG01891.hp2 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0048 a0002c0002t0038 a0002c0002t0048	a0002c0002t0038g0082 a0002c0002t0048g0070 a0002c0002t0038g0082 a0002c0002t0048g0070	2	162	0.0124	24	c.156 others(43): Show c.1569+6121_1569+6122insGTGTCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122175	A A	ATCTCTAT others(17): Show ATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG01109.hp1 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0080 a0002c0002t0001 a0002c0002t0080	a0002c0002t0001g0149 a0002c0002t0080g0127 a0002c0002t0001g0149 a0002c0002t0080g0127	2	162	0.0124	24	c.156 others(43): Show c.1569+6163_1569+6164insGTGTCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122205	G G	GTCTCTAT others(17): Show GTCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0147 a0001c0001t0062g0147	1	162	0.0062	24	c.156 others(43): Show c.1569+6182_1569+6205dupCTATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122241	G G	GTCTCTAT others(17): Show GTCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0019 a0001c0001t0095g0019	1	162	0.0062	24	c.156 others(43): Show c.1569+6218_1569+6241dupCTATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122289	A A	ATCTCTAT others(17): Show ATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(10): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG01261.hp2 HG01515.hp1 HG01952.hp1 HG02129.hp1 HG02280.hp1 HG02602.hp2 NA18966.hp1 NA19030.hp2 NA19090.hp1 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 others(10): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0032 a0001c0001t0043 a0001c0001t0069 a0001c0001t0110 a0001c0001t0111 a0001c0001t0118 a0001c0001t0121 a0001c0001t0123 a0001c0003t0088 a0004c0005t0122	a0001c0001t0007g0048 a0001c0001t0012g0022 a0001c0001t0014g0027 others(10): Show a0001c0001t0007g0048 a0001c0001t0012g0022 a0001c0001t0014g0027 a0001c0001t0032g0159 a0001c0001t0043g0084 a0001c0001t0069g0092 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0118g0026 a0001c0001t0121g0011 a0001c0001t0123g0047 a0001c0003t0088g0021 a0004c0005t0122g0057	13	162	0.0803	24	c.156 others(43): Show c.1569+6271_1569+6272insCTATCTGTGTCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122307	G G	GTCTCTAT others(17): Show GTCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0009 a0001c0001t0010g0009	1	162	0.0062	24	c.156 others(43): Show c.1569+6284_1569+6307dupCTATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122337	A A	ATCTCTAT others(17): Show ATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0079 a0002c0002t0042g0079	1	162	0.0062	24	c.156 others(43): Show c.1569+6307_1569+6308insCTATCTCTATCTCTATCTGTGTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122343	G G	GTCTCTAT others(17): Show GTCTCTATCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG06807.hp1 HG02922.hp2 HG06807.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0011 a0002c0002 a0008c0011	a0002c0002t0036 a0008c0011t0044 a0002c0002t0036 a0008c0011t0044	a0002c0002t0036g0158 a0008c0011t0044g0068 a0002c0002t0036g0158 a0008c0011t0044g0068	2	162	0.0124	24	c.156 others(43): Show c.1569+6314_1569+6337dupCTATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122523	A A	ATCTCTAT others(17): Show ATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp2 HG01952.hp2 others(2): Show HG00323.hp1 HG00741.hp2 HG01952.hp2 HG02818.hp1 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0057 a0001c0001t0109 a0001c0001t0118 others(2): Show a0001c0001t0057 a0001c0001t0109 a0001c0001t0118 a0001c0001t0121 a0002c0002t0128	a0001c0001t0057g0156 a0001c0001t0109g0014 a0001c0001t0118g0026 others(2): Show a0001c0001t0057g0156 a0001c0001t0109g0014 a0001c0001t0118g0026 a0001c0001t0121g0011 a0002c0002t0128g0054	5	162	0.0309	24	c.156 others(43): Show c.1569+6536_1569+6559dupGTGTCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1144613	G G	GGTATATA others(17): Show GGTATATATATATATATATATACGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	162	0.0062	24	c.173 others(43): Show c.1737+2838_1737+2861dupTATATATATACGTGTATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1154213	G G	GTATGTAT others(17): Show GTATGTATATGTATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02145.hp1 HG02257.hp1 others(4): Show HG01257.hp2 HG02145.hp1 HG02257.hp1 HG03139.hp1 HG03654.hp1 HG04199.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0045 a0001c0001t0050 a0001c0001t0114 others(4): Show a0001c0001t0045 a0001c0001t0050 a0001c0001t0114 a0001c0001t0138 a0001c0003t0022 a0001c0003t0046 a0001c0003t0092	a0001c0001t0045g0066 a0001c0001t0050g0144 a0001c0001t0114g0051 others(4): Show a0001c0001t0045g0066 a0001c0001t0050g0144 a0001c0001t0114g0051 a0001c0001t0138g0095 a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0092g0004	7	162	0.0432	24	c.173 others(45): Show c.1737+12450_1737+12473dupATATGTATATGTATATGTATATGT	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(17): Show CTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp2 HG01106.hp1 HG01192.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0009 a0003c0004t0096 a0003c0004t0009 a0003c0004t0096	a0003c0004t0009g0059 a0003c0004t0096g0063 a0003c0004t0009g0059 a0003c0004t0096g0063	2	162	0.0124	24	c.235 others(43): Show c.2351+6791_2351+6792insCTCTCTCTCTCTCTGTCTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1333017	T T	TTCGTCCT others(17): Show TTCGTCCTGATCCTCGTCCTGATCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02717.hp2 HG01109.hp1 HG01891.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0080 a0002c0002t0136 a0002c0002t0048 a0002c0002t0080 a0002c0002t0136	a0002c0002t0048g0070 a0002c0002t0080g0127 a0002c0002t0136g0100 a0002c0002t0048g0070 a0002c0002t0080g0127 a0002c0002t0136g0100	3	162	0.0185	24	c.278 others(45): Show c.2781-38760_2781-38737dupGATCCTCGTCCTGATCCTCGTCCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1387068	T T	TTTTGGAA others(17): Show TTTTGGAATGAGAATGTCTATCATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01106.hp2 others(63): Show HG00639.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0013 others(6): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0007 a0005c0010 a0006c0008 a0007c0012 a0008c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(57): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0040 a0001c0001t0049 a0001c0001t0058 a0001c0001t0068 a0001c0001t0074 a0001c0001t0130 a0001c0001t0133 a0001c0003t0022 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0001c0013t0063 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0016 a0002c0002t0036 a0002c0002t0038 a0002c0002t0039 a0002c0002t0042 a0002c0002t0048 a0002c0002t0060 a0002c0002t0065 a0002c0002t0066 a0002c0002t0070 a0002c0002t0072 a0002c0002t0075 a0002c0002t0076 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0084 a0002c0002t0098 a0002c0002t0099 a0002c0002t0101 a0002c0002t0102 a0002c0002t0104 a0002c0002t0105 a0002c0002t0115 a0002c0002t0116 a0002c0002t0127 a0002c0002t0128 a0002c0002t0129 a0002c0002t0131 a0002c0002t0134 a0002c0002t0135 a0002c0002t0136 a0002c0002t0139 a0002c0002t0140 a0002c0007t0059 a0005c0010t0082 a0006c0008t0041 a0007c0012t0073 a0008c0011t0044	a0001c0001t0001g0076 a0001c0001t0004g0078 a0001c0001t0005g0041 others(63): Show a0001c0001t0001g0076 a0001c0001t0004g0078 a0001c0001t0005g0041 a0001c0001t0008g0086 a0001c0001t0013g0015 a0001c0001t0040g0150 a0001c0001t0049g0157 a0001c0001t0058g0141 a0001c0001t0068g0083 a0001c0001t0074g0039 a0001c0001t0130g0102 a0001c0001t0133g0094 a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0001c0013t0063g0077 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0036g0158 a0002c0002t0038g0082 a0002c0002t0039g0151 a0002c0002t0042g0079 a0002c0002t0048g0070 a0002c0002t0060g0040 a0002c0002t0065g0072 a0002c0002t0066g0139 a0002c0002t0070g0138 a0002c0002t0072g0145 a0002c0002t0075g0073 a0002c0002t0076g0146 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0080g0127 a0002c0002t0081g0123 a0002c0002t0084g0025 a0002c0002t0098g0045 a0002c0002t0099g0131 a0002c0002t0101g0056 a0002c0002t0102g0055 a0002c0002t0104g0043 a0002c0002t0105g0148 a0002c0002t0115g0049 a0002c0002t0116g0107 a0002c0002t0127g0155 a0002c0002t0128g0054 a0002c0002t0129g0106 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0135g0093 a0002c0002t0136g0100 a0002c0002t0139g0096 a0002c0002t0140g0108 a0002c0007t0059g0071 a0005c0010t0082g0126 a0006c0008t0041g0140 a0007c0012t0073g0067 a0008c0011t0044g0068	66	162	0.4074	24	c.292 others(45): Show c.2925+15093_2925+15116dupTTGGAATGAGAATGTCTATCATAT	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(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0086 a0001c0001t0008g0086	1	162	0.0062	24	c.292 others(43): Show c.2926-5527_2926-5504dupCACACACACACACACACACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1463697	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG04199.hp1 NA18949.hp1 others(1): Show HG02965.hp1 HG04199.hp1 NA18949.hp1 NA18982.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0023 a0001c0001t0119 a0001c0003t0092 others(1): Show a0001c0001t0023 a0001c0001t0119 a0001c0003t0092 a0002c0002t0055	a0001c0001t0023g0162 a0001c0001t0119g0061 a0001c0003t0092g0004 others(1): Show a0001c0001t0023g0162 a0001c0001t0119g0061 a0001c0003t0092g0004 a0002c0002t0055g0137	4	162	0.0247	24	c.321 others(45): Show c.3213+18959_3213+18982dupGTGTGTGTGTGTGTGTGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1463707	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02572.hp2 HG03579.hp1 HG01081.hp1 HG02572.hp2 HG03579.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0012 a0002c0002 a0007c0012	a0002c0002t0005 a0002c0002t0099 a0007c0012t0073 a0002c0002t0005 a0002c0002t0099 a0007c0012t0073	a0002c0002t0005g0133 a0002c0002t0099g0131 a0007c0012t0073g0067 a0002c0002t0005g0133 a0002c0002t0099g0131 a0007c0012t0073g0067	3	162	0.0185	24	c.321 others(45): Show c.3213+18980_3213+18981insTTGTGTGTGTGTGTGTGTGTGTGT	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(17): Show AATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0072 a0002c0002t0065g0072	1	162	0.0062	24	c.33 others(35): Show c.3317_*3318insTATATATATATATATATATATATA	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(17): Show AAAAAATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0162 a0001c0001t0023g0162	1	162	0.0062	24	c.33 others(35): Show c.3319_*3320insAAAATATATATATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	19/19	3320	INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55553011	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03710.hp2 HG02040.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0032 a0001c0001t0011g0047 a0001c0001t0002g0032 a0001c0001t0011g0047	2	74	0.0270	24	c.40 others(43): Show c.40-41759_*40-41736dupAAAAAAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55583441	T T	TCCTTCCT others(17): Show TCCTTCCTTCCTTCCTTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	74	0.0135	24	c.40 others(43): Show c.40-72166_*40-72165insGAGGAAGGAAGGAAGGAAGGAAGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55583523	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	74	0.0135	24	c.40 others(43): Show c.40-72248_*40-72247insAAGGGAGGGAGGGAGGGAGGGAGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55864174	T T	TATATATA others(17): Show TATATATACACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG03540.hp1 HG02486.hp1 HG03041.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0002t0001g0006 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0002t0001g0006	3	74	0.0405	24	c.256 others(45): Show c.2564+24191_2564+24214dupGTGTATATATATATGTGTATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar

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