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
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGAGAG others(23): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02976.hp1 HG00642.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	43	0.0465	30	c.137 others(49): Show c.137+19208_137+19209insTGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGAG others(23): Show TGTGTGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	42	0.0238	30	c.137 others(49): Show c.137+19208_137+19209insTGTGAGAGAGAGAGAGAGAGAGAGAG AGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36183888	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03490.hp2 HG01109.hp2 HG03490.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0042 a0003c0002t0007 a0001c0001t0042 a0003c0002t0007	a0001c0001t0042g0037 a0003c0002t0007g0042 a0001c0001t0042g0037 a0003c0002t0007g0042	2	14	0.1429	30	c.878 others(49): Show c.878+28686_878+28687insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7			chr7	TogoVar
EEPD1_chr7_36148254_36306538	36271798	C C	CCTATTCT others(23): Show CCTATTCTATTCTATTCTATTCTATTCTATT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	199	0.0050	30	c.931 others(47): Show c.931-9261_931-9232dupCTATTCTATTCTATTCTATTCTATTCTA TT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	243	0.0041	30	c.107 others(45): Show c.107-670_107-669insATATATATATATATATATATATATATTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89835585	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0261 a0002c0007t0004g0261	1	51	0.0196	30	c.411 others(49): Show c.411-38291_411-38262dupACACACACACACACACACACACACAC ACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG01192.hp2 others(13): Show HG00323.hp1 HG00438.hp1 HG01192.hp2 HG01934.hp1 HG02004.hp2 HG02109.hp1 HG02280.hp2 HG02602.hp1 HG03195.hp1 HG03471.hp2 HG03831.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0039 a0001c0004t0020	a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0002g0030 others(13): Show a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0002g0030 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0003g0057 a0001c0001t0004g0170 a0001c0001t0005g0087 a0001c0001t0006g0133 a0001c0001t0007g0079 a0001c0001t0007g0123 a0001c0001t0008g0176 a0001c0001t0010g0180 a0001c0001t0039g0132 a0001c0004t0020g0283	16	80	0.2000	30	c.410 others(49): Show c.410+50088_410+50089insATATATATATATATATATATATATAT ATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89929031	A A	ATATATAT others(23): Show ATATATATATATATTTTATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01255.hp1 others(17): Show HG00673.hp1 HG01074.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02738.hp1 HG03017.hp1 HG03491.hp1 HG03654.hp1 HG03834.hp2 NA19083.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0035 a0001c0002t0040 a0001c0002t0041	a0001c0002t0001g0190 a0001c0002t0002g0116 a0001c0002t0002g0117 others(17): Show a0001c0002t0001g0190 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0220 a0001c0002t0002g0222 a0001c0002t0002g0243 a0001c0002t0003g0065 a0001c0002t0003g0183 a0001c0002t0003g0194 a0001c0002t0003g0211 a0001c0002t0004g0223 a0001c0002t0005g0206 a0001c0002t0006g0224 a0001c0002t0006g0225 a0001c0002t0010g0209 a0001c0002t0035g0186 a0001c0002t0040g0118 a0001c0002t0041g0226	20	237	0.0844	30	c.410 others(47): Show c.410+2509_410+2510insAAATATATATATATAAAATATATATATA TA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB5_chr17_29936634_30113452	29970665	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG01891.hp1 HG02451.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0020 a0009c0011t0002g0021 a0009c0011t0002g0020 a0009c0011t0002g0021	2	244	0.0082	30	c.767 others(47): Show c.767+1301_767+1302insCACACACACACACACACACACACACATA CA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30036257	T T	TACATATA others(23): Show TACATATATAATATATAATTATATATAATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp2 HG02486.hp1 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0129 a0003c0003t0002g0139 a0003c0003t0002g0129 a0003c0003t0002g0139	2	17	0.1176	30	c.120 others(49): Show c.1200+1989_1200+2018dupATACACATATATAATATATAATTATA TATA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43586340	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0156 a0007c0007t0001g0156	1	47	0.0213	30	c.303 others(49): Show c.3032+3733_3032+3734insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32854691	T T	TATATATA others(23): Show TATATATATGATCATATATAATATATATAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0006 a0010c0010t0006	a0010c0010t0006g0051 a0010c0010t0006g0051	1	282	0.0035	30	c.-43 others(41): Show c.-4326_-4325insATATATATGATCATATATAATATATATAAG	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding		4231		chr20	TogoVar
EFEMP1_chr2_55860967_55928782	55865188	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18999.hp1 NA18961.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0245 a0001c0001t0007g0048 a0001c0001t0005g0245 a0001c0001t0007g0048	2	266	0.0075	30	c.18 others(41): Show c.1884_*1885insATATATATATATATATATATATATATATAT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding		778		chr2	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03654.hp2 NA18975.hp1 HG01071.hp1 HG03654.hp2 NA18975.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0014 a0002c0002 a0012c0014	a0002c0002t0001 a0012c0014t0001 a0002c0002t0001 a0012c0014t0001	a0002c0002t0001g0093 a0002c0002t0001g0098 a0012c0014t0001g0007 a0002c0002t0001g0093 a0002c0002t0001g0098 a0012c0014t0001g0007	3	216	0.0139	30	c.128 others(49): Show c.1289-2843_1289-2814dupCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908598	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0097 a0007c0008t0001g0097	1	167	0.0060	30	c.128 others(49): Show c.1289-2850_1289-2849insTTCTTTCTTTCTCTCTCTCTCTCTCT CTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908598	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	167	0.0060	30	c.128 others(49): Show c.1289-2850_1289-2849insTTCTTTCTCTCTCTCTCTCTCTCTCT CTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908598	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	167	0.0060	30	c.128 others(49): Show c.1289-2850_1289-2849insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp2 HG01175.hp2 HG01258.hp2 others(8): Show HG00738.hp2 HG01175.hp2 HG01258.hp2 HG02698.hp1 HG03041.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA18971.hp2 NA19030.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0003c0002 a0004c0004 others(1): Show a0001c0001 a0003c0002 a0004c0004 a0008c0009	a0001c0001t0016 a0001c0001t0030 a0001c0001t0031 others(4): Show a0001c0001t0016 a0001c0001t0030 a0001c0001t0031 a0001c0001t0049 a0003c0002t0043 a0004c0004t0016 a0008c0009t0089	a0001c0001t0016g0138 a0001c0001t0016g0139 a0001c0001t0030g0039 others(8): Show a0001c0001t0016g0138 a0001c0001t0016g0139 a0001c0001t0030g0039 a0001c0001t0030g0048 a0001c0001t0031g0111 a0001c0001t0031g0134 a0001c0001t0049g0282 a0003c0002t0043g0144 a0003c0002t0043g0145 a0004c0004t0016g0192 a0008c0009t0089g0280	11	136	0.0809	30	c.10 others(41): Show c.1044_*1045insATATATATATATATATATATATATATATAT	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045	INFO_REALIGN_3_PRIME	chr6	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01928.hp1 HG01978.hp1 others(4): Show HG01081.hp1 HG01928.hp1 HG01978.hp1 HG02258.hp1 HG02615.hp2 HG02723.hp2 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0100 others(4): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0100 a0001c0001t0006g0075 a0002c0002t0002g0182 a0003c0003t0002g0058 a0003c0003t0002g0115	7	95	0.0737	30	c.175 others(49): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TATA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44187135	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	89	0.0112	30	c.175 others(49): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232677207	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19012.hp1 NA18981.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0352 a0001c0004t0004g0146 a0001c0001t0004g0352 a0001c0004t0004g0146	2	49	0.0408	30	c.586 others(47): Show c.586-4373_586-4344dupACACACACACACACACACACACACACAC AC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01952.hp2 others(5): Show HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02074.hp2 HG02293.hp2 HG04115.hp1 NA18906.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0069 a0002c0002t0001g0083 others(5): Show a0002c0002t0001g0063 a0002c0002t0001g0069 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0093 a0002c0002t0001g0103 a0002c0002t0001g0178 a0002c0002t0001g0181	8	171	0.0468	30	c.175 others(49): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107399318	C C	CGGAAAGG others(23): Show CGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0073 a0001c0001t0003 a0001c0001t0073	a0001c0001t0003g0130 a0001c0001t0073g0012 a0001c0001t0003g0130 a0001c0001t0073g0012	2	54	0.0370	30	c.419 others(49): Show c.419-11577_419-11548dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAC others(23): Show CTATATACATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	71	0.0141	30	c.126 others(49): Show c.126-48538_126-48537insTACATATATATATATATATATATGTA TATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	71	0.0141	30	c.126 others(49): Show c.126-48538_126-48537insTACATATATATATATATATATATATA TATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569373	A A	ATATATAT others(23): Show ATATATATATATATTTTTATGTATATGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02055.hp1 HG02486.hp1 others(9): Show HG01074.hp2 HG02055.hp1 HG02486.hp1 HG02486.hp2 HG02717.hp2 HG02818.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0001t0040 a0001c0001t0045 a0001c0001t0048 a0001c0001t0053 a0001c0001t0055 a0001c0001t0059 a0001c0001t0072 a0001c0001t0080	a0001c0001t0003g0068 a0001c0001t0004g0004 a0001c0001t0012g0113 others(9): Show a0001c0001t0003g0068 a0001c0001t0004g0004 a0001c0001t0012g0113 a0001c0001t0017g0101 a0001c0001t0040g0007 a0001c0001t0045g0086 a0001c0001t0048g0111 a0001c0001t0053g0097 a0001c0001t0055g0095 a0001c0001t0059g0013 a0001c0001t0072g0168 a0001c0001t0080g0039	12	188	0.0638	30	c.125 others(51): Show c.125+101115_125+101116insCACACATATACATAAAAATATATA TATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569383	T T	TTTTATGT others(23): Show TTTTATGTATATGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02559.hp2 HG02572.hp1 others(15): Show HG01192.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0032 a0001c0001t0038 a0001c0001t0042 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0058 a0001c0001t0063 a0001c0001t0065	a0001c0001t0002g0090 a0001c0001t0003g0130 a0001c0001t0004g0040 others(15): Show a0001c0001t0002g0090 a0001c0001t0003g0130 a0001c0001t0004g0040 a0001c0001t0010g0173 a0001c0001t0015g0109 a0001c0001t0015g0145 a0001c0001t0016g0115 a0001c0001t0021g0110 a0001c0001t0032g0131 a0001c0001t0038g0186 a0001c0001t0042g0082 a0001c0001t0049g0024 a0001c0001t0050g0108 a0001c0001t0051g0036 a0001c0001t0052g0140 a0001c0001t0058g0177 a0001c0001t0063g0175 a0001c0001t0065g0015	18	175	0.1029	30	c.125 others(51): Show c.125+101076_125+101105dupTATATATATATATACACACATATA CATAAA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569559	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0059 a0001c0001t0020g0059	1	51	0.0196	30	c.125 others(51): Show c.125+100929_125+100930insTATAAATATATATATATATATATA TATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	253	0.0040	30	c.31 others(41): Show c.3116_*3117insATATATATATATATATATATATACACACAC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG03516.hp1 HG02300.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0003 a0003c0004t0008 a0001c0003t0003 a0003c0004t0008	a0001c0003t0003g0064 a0003c0004t0008g0097 a0001c0003t0003g0064 a0003c0004t0008g0097	2	29	0.0690	30	c.72 others(41): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25080283	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	67	0.0149	30	c.8-1 others(45): Show c.8-11014_8-11013insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGF_chr4_109907883_110018766	109932360	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp2 HG01358.hp2 others(23): Show HG01167.hp1 HG01167.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG02027.hp2 HG02080.hp1 HG02148.hp1 HG02293.hp1 HG02717.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03669.hp1 NA18522.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18949.hp2 NA18959.hp1 NA18963.hp1 NA18963.hp2 NA19076.hp1 NA19080.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0027 a0001c0001t0029 a0001c0007t0002 a0002c0002t0006 a0002c0002t0021	a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0075 others(23): Show a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0004g0336 a0001c0001t0004g0359 a0001c0001t0004g0362 a0001c0001t0004g0364 a0001c0001t0006g0091 a0001c0001t0006g0099 a0001c0001t0006g0311 a0001c0001t0012g0372 a0001c0001t0013g0358 a0001c0001t0014g0235 a0001c0001t0027g0068 a0001c0001t0029g0238 a0001c0007t0002g0102 a0001c0007t0002g0103 a0002c0002t0006g0335 a0002c0002t0006g0349 a0002c0002t0006g0367 a0002c0002t0021g0341	26	304	0.0855	30	c.128 others(47): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA TA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932376	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18947.hp2 NA18957.hp2 others(4): Show NA18939.hp2 NA18947.hp2 NA18957.hp2 NA18974.hp2 NA19064.hp2 NA19078.hp1 NA19090.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0033 a0002c0002 others(1): Show a0001c0001 a0001c0033 a0002c0002 a0007c0008	a0001c0001t0004 a0001c0001t0013 a0001c0033t0004 others(2): Show a0001c0001t0004 a0001c0001t0013 a0001c0033t0004 a0002c0002t0021 a0007c0008t0003	a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0013g0348 others(4): Show a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0013g0348 a0001c0033t0004g0315 a0002c0002t0021g0314 a0007c0008t0003g0317 a0007c0008t0003g0318	7	362	0.0193	30	c.128 others(47): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA AA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932382	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02080.hp2 HG02735.hp1 others(1): Show HG00609.hp2 HG02080.hp2 HG02735.hp1 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0008 a0003c0003t0005 a0003c0003t0008	a0003c0003t0005g0025 a0003c0003t0005g0048 a0003c0003t0008g0046 others(1): Show a0003c0003t0005g0025 a0003c0003t0005g0048 a0003c0003t0008g0046 a0003c0003t0008g0047	4	343	0.0117	30	c.128 others(47): Show c.128-8564_128-8563insATATATATATATATATATATATATATAT AA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EHBP1_chr2_62700713_63051487	62894927	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0197 a0004c0009t0001g0197	1	85	0.0118	30	c.118 others(51): Show c.1185+20424_1185+20425insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62900682	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0078 a0001c0008t0001g0076 a0001c0001t0001g0078 a0001c0008t0001g0076	2	184	0.0109	30	c.118 others(51): Show c.1185+26151_1185+26152insATATATATATATATATATATATAT ATATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0319 a0001c0002t0002g0319	1	282	0.0035	30	c.915 others(47): Show c.915+5056_915+5057insAAAAAAAAAAAAAAATTATATATATATA TA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD4_chr15_41890933_41977557	41949051	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA19009.hp2 HG01517.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0010 a0001c0001t0001 a0001c0002t0010	a0001c0001t0001g0077 a0001c0002t0010g0071 a0001c0001t0001g0077 a0001c0002t0010g0071	2	289	0.0069	30	c.413 others(47): Show c.413+4712_413+4713insGTATATATATATATATATATATATATAT AT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG02040.hp2 others(11): Show HG00423.hp1 HG00741.hp1 HG02040.hp2 HG02074.hp2 HG02155.hp1 HG03688.hp2 HG03710.hp2 NA18947.hp1 NA18999.hp1 NA19002.hp2 NA19056.hp1 NA19062.hp2 NA19081.hp2 NA19087.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0003 a0014c0014 a0001c0001 a0002c0003 a0014c0014	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0002c0003t0012 a0002c0003t0024 a0002c0003t0028 a0014c0014t0001	a0001c0001t0001g0293 a0001c0001t0003g0250 a0002c0003t0001g0010 others(10): Show a0001c0001t0001g0293 a0001c0001t0003g0250 a0002c0003t0001g0010 a0002c0003t0001g0229 a0002c0003t0001g0246 a0002c0003t0001g0248 a0002c0003t0001g0262 a0002c0003t0001g0272 a0002c0003t0001g0291 a0002c0003t0012g0274 a0002c0003t0024g0275 a0002c0003t0028g0259 a0014c0014t0001g0231	14	316	0.0443	30	c.630 others(45): Show c.630+337_630+338insTATATATATATATATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6045750	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18970.hp1 NA18994.hp2 others(1): Show NA18966.hp1 NA18970.hp1 NA18994.hp2 NA19000.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0232 a0002c0003t0001g0265 a0002c0003t0001g0271 others(1): Show a0002c0003t0001g0232 a0002c0003t0001g0265 a0002c0003t0001g0271 a0002c0003t0001g0286	4	414	0.0097	30	c.630 others(45): Show c.630+320_630+321insTTATATATATATATATATATATATATATAT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18979.hp1 NA19001.hp1 others(1): Show HG01258.hp1 NA18979.hp1 NA19001.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(1): Show a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124	4	132	0.0303	30	c.119 others(47): Show c.119-1910_119-1909insATATATATATATATATTTTTTTTTTTTT TT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01978.hp1 HG02056.hp2 others(4): Show HG01192.hp1 HG01978.hp1 HG02056.hp2 HG03831.hp2 HG04228.hp1 NA18944.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0031 a0001c0001t0002g0103 a0001c0001t0002g0104 others(4): Show a0001c0001t0002g0031 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0002c0003t0001g0106	7	135	0.0519	30	c.119 others(47): Show c.119-1910_119-1909insATATATATATATATATATTTTTTTTTTT TT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18969.hp1 NA18972.hp1 others(1): Show NA18956.hp2 NA18969.hp1 NA18972.hp1 NA18994.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0002 a0011c0010t0002 a0001c0001t0002 a0011c0010t0002	a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0139 others(1): Show a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0139 a0011c0010t0002g0081	4	132	0.0303	30	c.119 others(47): Show c.119-1910_119-1909insATATATATATATATATATATTTTTTTTT TT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0067 a0001c0001t0017g0067	1	129	0.0078	30	c.119 others(47): Show c.119-1910_119-1909insATATATATATATATATATATATTTTTTT TT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0319 a0001c0001t0004g0319	1	129	0.0078	30	c.119 others(47): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT AT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0276 a0002c0002t0003g0276	1	150	0.0067	30	c.406 others(47): Show c.4065+283_4065+312dupATATATATATATATATATATATATATAT AT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	67	0.0149	30	c.406 others(47): Show c.4065+312_4065+313insATATATATATATATATATATATGTATGT AT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(23): Show ATATATATATATATATATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0101 a0003c0003t0002g0101	1	67	0.0149	30	c.406 others(47): Show c.4065+312_4065+313insATATATATATATATATATATGTATATGT AT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	25	0.0400	30	c.434 others(43): Show c.434-47_434-46insATATATATATATATATTTTTTTTTTTTTTT	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B2_chr14_74997921_75017366	75010079	C C	CGAGTGCT others(23): Show CGAGTGCTTCAGAGCTAATTGACATTGCTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0020 a0001c0001t0028g0020	1	324	0.0031	30	c.89 others(39): Show c.891_*892insGAGTGCTTCAGAGCTAATTGACATTGCTGG	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	8/8	892		chr14	TogoVar

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