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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ERC1_chr12_986223_1500931	1144614	G G	GTATATAT others(35): Show GTATATATATATATATATATATACGTGTATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0078 a0001c0001t0009g0078	1	128	0.0078	42	c.173 others(61): Show c.1737+2847_1737+2848insTACGTGTATATATATACGTATATATA TATATATATATATATA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1144614	G G	GTATATAT others(35): Show GTATATATATATATATATATATATACGTGTATATATATACGTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0054 a0002c0002t0054	a0002c0002t0054g0076 a0002c0002t0054g0076	1	128	0.0078	42	c.173 others(61): Show c.1737+2847_1737+2848insTATACGTGTATATATATACGTATATA TATATATATATATATA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55714672	T T	TGTATATA others(35): Show TGTATATATATATGTGTGTATATATATATGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp2 HG02630.hp1 HG01071.hp2 HG01099.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0070 a0001c0002t0001g0042 a0001c0002t0001g0067 a0001c0001t0003g0070 a0001c0002t0001g0042 a0001c0002t0001g0067	3	72	0.0417	42	c.271 others(63): Show c.2713-15161_2713-15160insGTATATATATATACATATATATAT ACACACATATATATATAC		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERCC6_chr10_49449470_49544121	49526115	T T	TTATATAT others(35): Show TTATATATTTATATATTTATATATTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0114 a0002c0012t0001g0114	1	181	0.0055	42	c.653 others(59): Show c.653-1339_653-1338insTATATATATATATATATAAATATATAAA TATATAAATATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20						chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526115	T T	TTATATAT others(35): Show TTATATATTTATATATTTATATATTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0078 a0002c0003t0006g0078	1	190	0.0053	42	c.653 others(59): Show c.653-1339_653-1338insTATATATATATATATATAAATATATAAA TATATAAATATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5						chr10	TogoVar
ERFL_chr19_41902704_41933449	41914572	T T	TCTCCCTC others(35): Show TCTCCCTCCCCCTCCACCATCTCTGTCTCTCCCTCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	326	0.0031	42	c.-13 others(59): Show c.-13-1641_-13-1640insTGGAGGGGGAGGGAGAGACAGAGATGGT GGAGGGGGAGGGAG		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914572	T T	TCTCCCTC others(35): Show TCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0043 a0002c0003t0001g0043	1	326	0.0031	42	c.-13 others(59): Show c.-13-1641_-13-1640insTGGAGGGGGAGGGAGAGACAGAGATGGT GGAAGGGGAGGGAG		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GAGGGGGG others(35): Show GAGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	211	0.0047	42	c.156 others(59): Show c.156-1323_156-1322insAGGGGGGGGAGAGAGGGGAGGGGGGGAG GGGGGGAGGGGGGA		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9						chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908344	G G	GGGGGGGG others(35): Show GGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19005.hp2 HG02165.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0102 a0001c0001t0002g0044 a0001c0001t0002g0102	2	212	0.0094	42	c.156 others(59): Show c.156-1315_156-1314insAGAGAGGGGAGGGGGGGAGGGGGGGGAG GGGGGAGGGGGGGG		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908345	G G	GGGGGGGG others(35): Show GGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	277	0.0036	42	c.156 others(59): Show c.156-1315_156-1314insAGAGAGGGGAGGGGGGGAGGGGGGGGGA GGGGGGAGGGGGGG		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908345	G G	GGGGGGGG others(35): Show GGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	277	0.0036	42	c.156 others(59): Show c.156-1315_156-1314insGAGAGAGGGGAGGGGGGGAGGGGGGGGA GGGGGGAGGGGGGG		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	679829	C C	CAGCTGCC others(35): Show CAGCTGCCACCCCTGTGAACACAGAAAGTCCAAGAGAATCCAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	262	0.0038	42	c.305 others(59): Show c.305-5783_305-5782insATGGATTCTCTTGGACTTTCTGTGTTCA CAGGGGTGGCAGCT		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	680291	C C	CAGCTGCC others(35): Show CAGCTGCCACCCCTGTGAACACAGAAAGTCCAAGAGAATCCAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01934.hp2 HG02145.hp2 others(15): Show HG01255.hp1 HG01934.hp2 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02717.hp2 HG02809.hp1 HG03130.hp2 HG03139.hp2 HG03491.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18967.hp1 NA19240.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0008 a0001c0001 a0001c0003 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0006c0008t0001	a0001c0001t0001g0078 a0001c0001t0001g0130 a0001c0001t0001g0150 others(15): Show a0001c0001t0001g0078 a0001c0001t0001g0130 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0002g0257 a0001c0001t0002g0294 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0003t0002g0314 a0001c0003t0002g0315 a0006c0008t0001g0175	18	112	0.1607	42	c.305 others(59): Show c.305-6245_305-6244insATGGATTCTCTTGGACTTTCTGTGTTCA CAGGGGTGGCAGCT		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	714797	G G	GGGATGTG others(35): Show GGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	376	0.0027	42	c.169 others(59): Show c.169+1063_169+1064insACCGAGAGATGCCGGAAGAGGCCGCCTG GGTGCAGCACATCC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH6_chr3_150654885_150708920	150703740	C C	CTCCTCCT others(35): Show CTCCTCCTCCTCCTCCACCTCTTCCTCCTCCTCCTCCACCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp1 HG01169.hp2 HG01175.hp1 others(3): Show HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01496.hp2 HG02055.hp2 NA20752.hp1	a0007 a0007	a0007c0010 a0007c0021 a0007c0010 a0007c0021	a0007c0010t0001 a0007c0021t0001 a0007c0010t0001 a0007c0021t0001	a0007c0010t0001g0016 a0007c0010t0001g0017 a0007c0010t0001g0018 others(3): Show a0007c0010t0001g0016 a0007c0010t0001g0017 a0007c0010t0001g0018 a0007c0010t0001g0019 a0007c0010t0001g0020 a0007c0021t0001g0021	6	216	0.0278	42	c.117 others(49): Show c.117_158dupAGAGGTGGAGGAGGAGGAGGAAGAGGTGGAGGAGGAGG AGGA	p.Glu others(53): Show p.Glu53_Glu54insGluValGluGluGluGluGluGluValGluGluG luGluGlu	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	1/14	180/2021	158/1992	53/663			chr3	TogoVar
ESPNL_chr2_238095340_238138287	238098559	G G	GCATAGGA others(35): Show GCATAGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0010 a0008c0023t0010	a0008c0023t0010g0124 a0008c0023t0010g0124	1	374	0.0027	42	c.-18 others(53): Show c.-1861_-1860insCATAGGACCGCCCACATGGGAACGCCCACATGGG AACGCCCA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1780		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098563	A A	AGGACCGC others(35): Show AGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG03490.hp2 HG00741.hp2 HG03490.hp2	a0001 a0004 a0001 a0004	a0001c0048 a0004c0003 a0001c0048 a0004c0003	a0001c0048t0004 a0004c0003t0005 a0001c0048t0004 a0004c0003t0005	a0001c0048t0004g0265 a0004c0003t0005g0279 a0001c0048t0004g0265 a0004c0003t0005g0279	2	364	0.0055	42	c.-18 others(53): Show c.-1857_-1856insGGACCGCCCACATGGGACCGCCCACATGGGACCG CCCACATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1776		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098579	G G	GACCGCCC others(35): Show GACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0216 a0002c0011t0002g0216	1	364	0.0027	42	c.-18 others(53): Show c.-1841_-1840insACCGCCCACATAGGACCGCCCACATGGGAACGCC CACATAGA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1760		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098581	C C	CCGCCCAC others(35): Show CCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0063 a0005c0007t0001g0063	1	274	0.0036	42	c.-18 others(53): Show c.-1839_-1838insCGCCCACATGGGACCGCCCACATGGGACCGCCCA CATGGGAA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1758		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098591	A A	AGGACCGC others(35): Show AGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 NA18977.hp2 NA19064.hp1 others(1): Show HG01884.hp2 NA18977.hp2 NA19064.hp1 NA19083.hp2	a0002 a0003 a0039 others(1): Show a0002 a0003 a0039 a0043	a0002c0004 a0003c0097 a0039c0106 others(1): Show a0002c0004 a0003c0097 a0039c0106 a0043c0105	a0002c0004t0007 a0003c0097t0017 a0039c0106t0001 others(1): Show a0002c0004t0007 a0003c0097t0017 a0039c0106t0001 a0043c0105t0026	a0002c0004t0007g0052 a0003c0097t0017g0266 a0039c0106t0001g0228 others(1): Show a0002c0004t0007g0052 a0003c0097t0017g0266 a0039c0106t0001g0228 a0043c0105t0026g0008	4	307	0.0130	42	c.-18 others(53): Show c.-1829_-1828insGGACCGCCCACATGGGACCGCCCACATGGGACCG CCCACATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1748		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098595	C C	CCGCCCAC others(35): Show CCGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0016 a0005c0019t0001g0016	2	377	0.0053	42	c.-18 others(53): Show c.-1825_-1824insCGCCCACATAGAACCGCCCACATAGGACCGCCCA CATGGGAA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1744		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098595	C C	CCGCCCAC others(35): Show CCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG03942.hp1 HG04115.hp2 others(2): Show HG02056.hp2 HG03942.hp1 HG04115.hp2 NA18997.hp2 NA19056.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0008 a0002c0004 a0003c0010 others(2): Show a0001c0008 a0002c0004 a0003c0010 a0004c0017 a0005c0007	a0001c0008t0004 a0002c0004t0002 a0003c0010t0001 others(2): Show a0001c0008t0004 a0002c0004t0002 a0003c0010t0001 a0004c0017t0005 a0005c0007t0001	a0001c0008t0004g0066 a0002c0004t0002g0064 a0003c0010t0001g0005 others(2): Show a0001c0008t0004g0066 a0002c0004t0002g0064 a0003c0010t0001g0005 a0004c0017t0005g0068 a0005c0007t0001g0005	5	380	0.0132	42	c.-18 others(53): Show c.-1825_-1824insCGCCCACATGGGACCGCCCACATGGGACCGCCCA CATGGGAA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1744		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098598	C C	CCCACATA others(35): Show CCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03516.hp1 HG02258.hp1 HG03516.hp1	a0001 a0008 a0001 a0008	a0001c0005 a0008c0023 a0001c0005 a0008c0023	a0001c0005t0003 a0008c0023t0010 a0001c0005t0003 a0008c0023t0010	a0001c0005t0003g0012 a0008c0023t0010g0106 a0001c0005t0003g0012 a0008c0023t0010g0106	2	394	0.0051	42	c.-18 others(53): Show c.-1822_-1821insCCACATAGGACCGCCCACATGGGACCGCCCACAT AGAACCGT		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1741		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098605	A A	AGAACCGC others(35): Show AGAACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	211	0.0047	42	c.-18 others(53): Show c.-1815_-1814insGAACCGCCCACATAGGACCGCCCACATGGGAACG CCCACATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1734		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098605	A A	AGAACCGC others(35): Show AGAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0147 a0002c0001t0002g0147	1	211	0.0047	42	c.-18 others(53): Show c.-1815_-1814insGAACCGCCCACATAGGACCGCCCACATGGGACCG CCCACATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1734		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098605	A A	AGGACCGC others(35): Show AGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 NA18951.hp2 others(2): Show HG00558.hp2 HG00673.hp2 NA18951.hp2 NA18960.hp1 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0018 a0001c0048 a0003c0036 a0001c0018 a0001c0048 a0003c0036	a0001c0018t0001 a0001c0018t0003 a0001c0048t0004 others(1): Show a0001c0018t0001 a0001c0018t0003 a0001c0048t0004 a0003c0036t0006	a0001c0018t0001g0038 a0001c0018t0001g0213 a0001c0018t0003g0230 others(2): Show a0001c0018t0001g0038 a0001c0018t0001g0213 a0001c0018t0003g0230 a0001c0048t0004g0269 a0003c0036t0006g0035	5	215	0.0233	42	c.-18 others(53): Show c.-1815_-1814insGGACCGCCCACATGGGACCGCCCACATGGGACCG CCCACATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1734		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098609	C C	CCGCCCAC others(35): Show CCGCCCACATGGGAACGCCCACATAGAACCGCCCACATAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0323 a0005c0014t0001g0323	1	296	0.0034	42	c.-18 others(53): Show c.-1811_-1810insCGCCCACATGGGAACGCCCACATAGAACCGCCCA CATAGGAA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1730		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098609	C C	CCGCCCAC others(35): Show CCGCCCACATGGGAACGCCCACATAGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0309 a0004c0003t0005g0309	1	296	0.0034	42	c.-18 others(53): Show c.-1811_-1810insCGCCCACATGGGAACGCCCACATAGGACCGCCCA CATGGGAA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1730		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098621	G G	GACCGCCC others(35): Show GACCGCCCACATAGAACCGCCCACATGGGACCGCCCACATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02965.hp2 HG02486.hp1 HG02965.hp2	a0003 a0008 a0003 a0008	a0003c0089 a0008c0023 a0003c0089 a0008c0023	a0003c0089t0012 a0008c0023t0010 a0003c0089t0012 a0008c0023t0010	a0003c0089t0012g0115 a0008c0023t0010g0088 a0003c0089t0012g0115 a0008c0023t0010g0088	2	386	0.0052	42	c.-17 others(53): Show c.-1799_-1798insACCGCCCACATAGAACCGCCCACATGGGACCGCC CACATAGA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1718		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098623	C C	CCGCCCAC others(35): Show CCGCCCACATGGGAACGCCCACATGGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 NA18948.hp2 HG00558.hp1 NA18948.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0003 a0001c0008t0003 a0001c0005t0003 a0001c0008t0003	a0001c0005t0003g0194 a0001c0008t0003g0062 a0001c0005t0003g0194 a0001c0008t0003g0062	2	352	0.0057	42	c.-17 others(53): Show c.-1797_-1796insCGCCCACATGGGAACGCCCACATGGGACCGCCCA CATGGGAA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1716		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098640	C C	CCCACATA others(35): Show CCCACATAGGACCGCCCACATGGGAACGCCCACATAGAACCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0005 a0004c0026t0005	a0004c0026t0005g0178 a0004c0026t0005g0178	1	345	0.0029	42	c.-17 others(53): Show c.-1780_-1779insCCACATAGGACCGCCCACATGGGAACGCCCACAT AGAACCGT		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1699		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098651	C C	CCGCCCAC others(35): Show CCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0262 a0001c0018t0003g0262	1	350	0.0029	42	c.-17 others(53): Show c.-1769_-1768insCGCCCACATGGGACCGCCCACATGGGACCGCCCA CATGGGAA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1688		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238118400	G G	GAGGGTGG others(35): Show GAGGGTGGATGGAGGAGGAATGGATGGAAGAGGTGGATGGAGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0140 a0003c0013t0001g0140	1	403	0.0025	42	c.987 others(59): Show c.987+1374_987+1375insTGGAGGAGGAATGGATGGAAGAGGTGGA TGGAGAAGGGTGGA		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESRP1_chr8_94636174_94712466	94668789	A A	ATGTGTGT others(35): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02004.hp2 HG02080.hp2 others(5): Show HG01891.hp1 HG02004.hp2 HG02080.hp2 NA18944.hp2 NA18946.hp1 NA19084.hp1 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0190 others(5): Show a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0001g0248	8	133	0.0602	42	c.123 others(59): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT		ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr8	TogoVar
ESYT2_chr7_158725997_158834509	158757584	T T	TCGCGGGA others(35): Show TCGCGGGACGCCCCTTAATCCAGAGCCAAAGGATCCTAGAGCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(82): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG01074.hp1 HG01099.hp2 HG01243.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02886.hp1 HG02970.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp2 NA18953.hp2 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18972.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0013 others(1): Show a0001c0001 a0002c0002 a0002c0013 a0002c0021	a0001c0001t0001 a0002c0002t0002 a0002c0002t0036 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0036 a0002c0002t0039 a0002c0002t0041 a0002c0013t0002 a0002c0021t0002	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 others(81): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0106 a0002c0002t0002g0001 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0233 a0002c0002t0002g0256 a0002c0002t0036g0100 a0002c0002t0039g0104 a0002c0002t0041g0070 a0002c0013t0002g0044 a0002c0013t0002g0087 a0002c0021t0002g0094	85	368	0.2310	42	c.141 others(61): Show c.1419+1860_1419+1901dupGGCTCTAGGATCCTTTGGCTCTGGAT TAAGGGGCGTCCCGCG		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	13/22						chr7	TogoVar
ETDB_chrX_135113955_135125526	135115112	G G	GTTACTAT others(35): Show GTTACTATATAATGTATTCATATATAATATAATATACAACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	314	0.0032	42	c.39 others(53): Show c.3969_*3970insTAGGTTGTATATTATATTATATATGAATACATTA TATAGTAA		ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding					3842		chrX	TogoVar
ETV1_chr7_13886229_13994666	13896725	A A	AAGAAAGG others(35): Show AAGAAAGGAGAGAGAAAGAAAAAGAAAAAGAAAGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18983.hp1 NA18956.hp2 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0104 a0002c0002t0001g0228 a0001c0001t0002g0104 a0002c0002t0001g0228	2	270	0.0074	42	c.121 others(59): Show c.1213-639_1213-638insCTTTCCTTTCTTTCTTTTTCTTTTTCTT TCTCTCTCCTTTCT		ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	13/13						chr7	TogoVar
ETV7_chr6_36361194_36392669	36361214	G G	GTGGCTTA others(35): Show GTGGCTTAGTTCCCACCGAGGTCCTTTGAGGGCCGAGGTGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	460	0.0022	42	c.53 others(53): Show c.5389_*5430dupTGACACCTCGGCCCTCAAAGGACCTCGGTGGGAA CTAAGCCA		ETV7	ENSG00000010030.14	transcript	ENST00000340181.9	protein_coding					4979		chr6	TogoVar
EVC2_chr4_5557439_5713559	5683881	A A	AACACACA others(35): Show AACACACACAGCTACACGGGAACACACACAGCTGCCCGGGAAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0136 a0002c0007t0006g0136	1	290	0.0034	42	c.816 others(59): Show c.816+1447_816+1488dupGTTCCCGGGCAGCTGTGTGTGTTCCCGT GTAGCTGTGTGTGT		EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	6/21						chr4	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTGTT others(35): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02630.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	107	0.0187	42	c.-64 others(51): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ACAAAA		EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding					460		chr2	TogoVar
EXOC1_chr4_55848648_55910086	55907672	G G	GTAGTGAA others(35): Show GTAGTGAAAATGAAAGTAAATTTCTGCTATACAAACAATGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	374	0.0027	42	c.31 others(53): Show c.3177_*3178insTAGTGAAAATGAAAGTAAATTTCTGCTATACAAA CAATGTAC		EXOC1	ENSG00000090989.18	transcript	ENST00000381295.7	protein_coding					2587		chr4	TogoVar
EXOC2_chr6_480154_698139	501202	T T	TATCTATA others(35): Show TATCTATATATTATATTATATATATCTATATATATTATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	222	0.0045	42	c.238 others(61): Show c.2381-1503_2381-1502insTATATATAATATATATAGATATATAT AATATAATATATAGAT		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	501204	A A	ATATATAT others(35): Show ATATATATCTATATATATTATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	192	0.0052	42	c.238 others(61): Show c.2381-1505_2381-1504insGATATATATAATATATAGATATATAA TATATATAGATATATA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	501204	A A	ATATATCT others(35): Show ATATATCTATATATTATATATATCTATATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	192	0.0052	42	c.238 others(61): Show c.2381-1505_2381-1504insGATATATATAATATATATAGATATAT ATAATATATAGATATA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	501206	A A	ATATATCT others(35): Show ATATATCTATATATATTATATATATCTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	164	0.0061	42	c.238 others(61): Show c.2381-1507_2381-1506insGATATATATAATATATAGATATATAT AATATATATAGATATA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	658667	T T	TTTATATA others(35): Show TTTATATATATATATATATTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	235	0.0043	42	c.-43 others(61): Show c.-43-20807_-43-20806insTATATATATATATATATATATAAAAT ATATATATATATATAA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27						chr6	TogoVar
EXOC4_chr7_133248078_134070761	133855094	T T	TATATATA others(35): Show TATATATAAATATATATAAATATATATATAAATATATATATAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01099.hp2 HG03041.hp1 others(1): Show HG00423.hp2 HG01099.hp2 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0061 a0001c0001t0002g0100 a0001c0001t0003g0057 others(1): Show a0001c0001t0001g0061 a0001c0001t0002g0100 a0001c0001t0003g0057 a0001c0001t0006g0059	4	54	0.0741	42	c.173 others(63): Show c.1734+37557_1734+37558insAATATATATAAATATATATATAAA TATATATATAAATATATA		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133855094	T T	TATATATA others(35): Show TATATATAAATATATATAAATATATATATAAATATGTATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01261.hp2 others(9): Show HG00140.hp1 HG00738.hp1 HG01261.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp2 HG02080.hp2 HG02622.hp2 HG02647.hp1 HG02976.hp2 HG03540.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0001c0004t0004 a0001c0004t0008 a0001c0005t0013 a0001c0006t0010	a0001c0001t0001g0033 a0001c0001t0001g0083 a0001c0001t0002g0003 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0083 a0001c0001t0002g0003 a0001c0001t0003g0032 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0004t0001g0087 a0001c0004t0004g0044 a0001c0004t0008g0028 a0001c0005t0013g0046 a0001c0006t0010g0035	12	62	0.1935	42	c.173 others(63): Show c.1734+37557_1734+37558insAATATATATAAATATATATATAAA TATGTATATAAATATATA		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857325	G G	GTATATAT others(35): Show GTATATATATATATATATATACACGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	58	0.0172	42	c.173 others(63): Show c.1735-38254_1735-38253insCACGTATATATATATATATATATA TATATATATATATATATA		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72251098	T T	TTTTTATT others(35): Show TTTTTATTTAATATTGTATTTAATAATGTAATTTATTTAATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0016 a0001c0002t0009g0016	1	102	0.0098	42	c.219 others(63): Show c.2197-66912_2197-66911insTTATTAAATAAATTACATTATTAA ATACAATATTAAATAAAA		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21						chr2	TogoVar

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