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
ECD_chr10_73128668_73173008	73169951	T T	TTATTAAT others(23): Show TTATTAATTAAATATTAACTATAAATAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(102): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19077.hp1 NA19078.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0007	a0002c0002 a0002c0003 a0002c0008 others(5): Show a0002c0002 a0002c0003 a0002c0008 a0003c0004 a0003c0005 a0005c0015 a0006c0010 a0007c0009	a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0003t0004 a0002c0008t0002 a0003c0004t0003 a0003c0005t0003 a0005c0015t0002 a0006c0010t0003 a0007c0009t0002	a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 others(87): Show a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0003g0014 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0093 a0002c0003t0002g0008 a0002c0003t0002g0016 a0002c0003t0002g0018 a0002c0003t0002g0053 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0076 a0002c0003t0002g0079 a0002c0003t0002g0084 a0002c0003t0002g0087 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0004g0012 a0002c0003t0004g0034 a0002c0003t0004g0035 a0002c0003t0004g0036 a0002c0003t0004g0037 a0002c0008t0002g0070 a0003c0004t0003g0022 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0109 a0003c0005t0003g0020 a0003c0005t0003g0021 a0003c0005t0003g0094 a0003c0005t0003g0097 a0003c0005t0003g0098 a0005c0015t0002g0089 a0006c0010t0003g0092 a0007c0009t0002g0069	105	272	0.3860	30	c.-21 others(41): Show c.-2100_-2099insCATTTATTTATAGTTAATATTTAATTAATA	ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding		1944		chr10	TogoVar
ECE1_chr1_21212250_21295463	21289051	A A	AAGAGGCG others(23): Show AAGAGGCGTATCTGAGTGGAGTGGGCCTGGC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	1	304	0.0033	30	c.138 others(46): Show c.138+989_138+1018dupGCCAGGCCCACTCCACTCAGATACGCCTC T	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	2/18			chr1	TogoVar
ECHDC3_chr10_11737382_11769070	11742330	C C	CCGGGGCG others(23): Show CCGGGGCGGGGCGGGGCGGGGCGTGCCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0197 a0013c0025t0001g0197	1	420	0.0024	30	c.-24 others(39): Show c.-247_-246insCGGGGCGGGGCGGGGCGGGGCGTGCCGGGG	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		51		chr10	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0055 a0003c0004t0002g0055	1	400	0.0025	30	c.-28 others(47): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01346.hp1 others(8): Show HG00597.hp1 HG00621.hp2 HG01346.hp1 HG02056.hp1 NA18949.hp2 NA18983.hp2 NA18992.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA20805.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0003 a0003c0005 a0009c0016 a0002c0003 a0003c0005 a0009c0016	a0002c0003t0001 a0002c0003t0003 a0003c0005t0002 others(1): Show a0002c0003t0001 a0002c0003t0003 a0003c0005t0002 a0009c0016t0002	a0002c0003t0001g0269 a0002c0003t0001g0272 a0002c0003t0003g0278 others(8): Show a0002c0003t0001g0269 a0002c0003t0001g0272 a0002c0003t0003g0278 a0003c0005t0002g0255 a0003c0005t0002g0257 a0003c0005t0002g0259 a0003c0005t0002g0260 a0003c0005t0002g0262 a0003c0005t0002g0274 a0003c0005t0002g0275 a0009c0016t0002g0250	11	354	0.0311	30	c.22+ others(45): Show c.22+4207_22+4208insACACACACACACACACACACACACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446460	C C	CTTTTCTT others(23): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	369	0.0027	30	c.24 others(41): Show c.2439_*2440insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2099		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446471	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 NA19082.hp2 HG04228.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0001 a0001c0001t0001g0081	2	369	0.0054	30	c.24 others(41): Show c.2428_*2429insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2088		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446479	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 NA19079.hp1 HG00735.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	369	0.0054	30	c.24 others(41): Show c.2420_*2421insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2080		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446487	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 NA18970.hp2 HG03491.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0001 a0001c0001t0001g0085	2	369	0.0054	30	c.24 others(41): Show c.2412_*2413insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2072		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446491	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG02602.hp2 HG00280.hp1 HG00323.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0001 a0001c0001t0001g0073	3	369	0.0081	30	c.24 others(41): Show c.2408_*2409insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2068		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446495	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	369	0.0027	30	c.24 others(41): Show c.2404_*2405insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2064		chr5	TogoVar
ECT2L_chr6_138791087_138909070	138873872	C C	CTCTGTGT others(23): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0020 a0001c0018t0020	a0001c0018t0020g0007 a0001c0018t0020g0007	1	326	0.0031	30	c.157 others(49): Show c.1579-2599_1579-2598insCTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2_chr3_172745726_172826474	172797018	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	318	0.0031	30	c.190 others(49): Show c.1908-5592_1908-5563dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01169.hp2 others(14): Show HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01516.hp2 HG01517.hp2 HG02004.hp2 HG02040.hp1 HG02135.hp1 HG02148.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03927.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0072 a0001c0001t0001g0189 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0095 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0147 a0001c0001t0004g0142 a0001c0001t0009g0007 a0001c0001t0010g0126 a0001c0001t0010g0127 a0001c0001t0016g0003 a0001c0004t0001g0005	17	226	0.0752	30	c.396 others(49): Show c.396+39083_396+39084insATATATATATATATATATATATATAT ATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	226	0.0044	30	c.397 others(49): Show c.397-68050_397-68049insATATATATATATATATATATATATAT ATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDIL3_chr5_83935554_84389880	83987865	G G	GTGTGTGT others(23): Show GTGTGTGTGTATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp1 HG03540.hp1 HG01109.hp1 HG03130.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020	a0001c0001t0003g0103 a0001c0001t0005g0148 a0001c0001t0020g0158 a0001c0001t0003g0103 a0001c0001t0005g0148 a0001c0001t0020g0158	3	158	0.0190	30	c.113 others(51): Show c.1138-24506_1138-24505insTATATATATATATATATACATACA CACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	158	0.0063	30	c.196 others(47): Show c.196+1590_196+1591insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84291653	T T	TATATATC others(23): Show TATATATCTATATATATATCTATCTATATAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	158	0.0063	30	c.68- others(47): Show c.68-37471_68-37442dupCTATATAGATAGATATATATATAGATAT AT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEA1_chr12_92765637_92934295	92831587	A A	AAATATAT others(23): Show AAATATATATTTCATAAATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp2 HG03225.hp2 others(1): Show HG02257.hp1 HG03209.hp2 HG03225.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0045 a0001c0002t0003 a0001c0002t0045	a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0041 others(1): Show a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0045g0036	4	244	0.0164	30	c.125 others(47): Show c.1254+895_1254+924dupATATATTTATATATTTATGAAATATATA TT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	11/28			chr12	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0308 a0001c0001t0004g0308	1	358	0.0028	30	c.400 others(47): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT TT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02071.hp1 HG01943.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0211 a0001c0001t0003g0019 a0001c0001t0001g0211 a0001c0001t0003g0019	2	358	0.0056	30	c.400 others(47): Show c.400-3626_400-3625insATATATATATATATTTTTTTTTTTTTTT TT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0351 a0001c0009t0002g0351	1	358	0.0028	30	c.400 others(47): Show c.400-3626_400-3625insATATATATATATATATTTTTTTTTTTTT TT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01361.hp2 others(16): Show HG00558.hp2 HG01106.hp1 HG01361.hp2 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp2 NA18944.hp2 NA18957.hp1 NA18973.hp1 NA18982.hp1 NA18991.hp2 NA19001.hp2 NA19003.hp1 NA19074.hp1 NA19076.hp1 NA19079.hp2 NA19087.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0002c0002t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(16): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0350 a0001c0001t0003g0142 a0001c0001t0009g0141 a0001c0001t0016g0117 a0002c0002t0001g0011	19	358	0.0531	30	c.291 others(45): Show c.291+332_291+333insTATATATATATATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02055.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0317 a0001c0001t0004g0318	2	358	0.0056	30	c.291 others(45): Show c.291+332_291+333insTATATATATATATATATATATATATATAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128152894	A A	ACGCCCCC others(23): Show ACGCCCCCCCCCGCCCCCCATCCTACCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01070.hp1 others(38): Show HG00642.hp1 HG00673.hp1 HG01070.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG03834.hp1 NA18944.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19068.hp1 NA19074.hp2 NA19082.hp1 NA19240.hp1 NA20129.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0009 a0003c0004 others(1): Show a0001c0001 a0001c0009 a0003c0004 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0003c0004t0001 a0005c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0009t0001g0040 a0003c0004t0001g0210 a0005c0013t0001g0089	41	272	0.1507	30	c.-61 others(39): Show c.-614_-613insCGCCCCCCCCCGCCCCCCATCCTACCCCCC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		586		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152894	A A	ACGCCCCC others(23): Show ACGCCCCCCCCGCCCCCCATCCTACCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00642.hp2 others(9): Show HG00438.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG02040.hp1 HG02809.hp1 HG03831.hp1 NA18944.hp1 NA18952.hp1 NA18967.hp2 NA18998.hp1 NA19010.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0101 a0001c0001t0001g0106 others(9): Show a0001c0001t0001g0026 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0199 a0003c0004t0001g0212	12	272	0.0441	30	c.-61 others(39): Show c.-614_-613insCGCCCCCCCCGCCCCCCATCCTACCCCCCC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		586		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152896	G G	GCCCCCCC others(23): Show GCCCCCCCCGCCCCCCATCCTACCCCCCCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	272	0.0037	30	c.-61 others(39): Show c.-612_-611insCCCCCCCCGCCCCCCATCCTACCCCCCCGT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		584		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCCGCCCC others(23): Show CCCGCCCCCCCCCGCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19240.hp1 NA19060.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0197 a0001c0001t0001g0179 a0001c0001t0001g0197	2	272	0.0074	30	c.-51 others(39): Show c.-517_-516insCCGCCCCCCCCCGCCCCCCCCGCCCCCCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCCGCCCC others(23): Show CCCGCCCCCCCCGCCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA19082.hp2 HG02080.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0185 a0001c0001t0001g0192	2	272	0.0074	30	c.-51 others(39): Show c.-517_-516insCCGCCCCCCCCGCCCCCCCCCGCCCCCCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00639.hp1 others(26): Show HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG01175.hp1 HG01361.hp2 HG01516.hp2 HG01891.hp2 HG02027.hp1 HG02056.hp2 HG02293.hp1 HG02683.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03540.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp2 NA18747.hp1 NA18947.hp2 NA18977.hp2 NA18982.hp1 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0026 a0001c0001t0030	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0015 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0010g0201 a0001c0001t0026g0154 a0001c0001t0030g0171	29	342	0.0848	30	c.-55 others(41): Show c.-5527_-5526insTATATATATATATATATATATATATATATA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG1_chr9_127935582_127985989	127985667	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	342	0.0029	30	c.-55 others(41): Show c.-5531_-5530insCATATATATATATATATATATATATATATA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4679		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579770	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	272	0.0037	30	c.137 others(49): Show c.137+19206_137+19207insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02965.hp2 HG03540.hp1 others(3): Show HG01934.hp1 HG02965.hp2 HG03540.hp1 HG03942.hp1 HG04204.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0081 a0001c0001t0001g0082	6	272	0.0221	30	c.137 others(49): Show c.137+19231_137+19232insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
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	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0100 a0001c0001t0001g0101	2	272	0.0074	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	a0001c0001t0001g0039 a0001c0001t0001g0039	1	272	0.0037	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	346	0.0058	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	346	0.0029	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	a0001c0001t0001g0284 a0001c0001t0001g0284	1	428	0.0023	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	284	0.0035	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 a0001c0001t0004g0173 a0001c0001t0005g0087 a0001c0001t0006g0133 a0001c0001t0007g0079 a0001c0001t0007g0123 a0001c0001t0008g0176 a0001c0001t0010g0180 a0001c0001t0039g0132 a0001c0004t0020g0283	16	284	0.0563	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(18): 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 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0035 a0001c0002t0040 a0001c0002t0041	a0001c0002t0001g0188 a0001c0002t0002g0116 a0001c0002t0002g0117 others(18): Show a0001c0002t0001g0188 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0220 a0001c0002t0002g0226 a0001c0002t0002g0243 a0001c0002t0003g0065 a0001c0002t0003g0183 a0001c0002t0003g0192 a0001c0002t0003g0210 a0001c0002t0004g0222 a0001c0002t0005g0204 a0001c0002t0006g0223 a0001c0002t0006g0224 a0001c0002t0010g0208 a0001c0002t0035g0184 a0001c0002t0040g0118 a0001c0002t0041g0225	21	284	0.0739	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	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0020 a0008c0011t0002g0021 a0008c0011t0002g0020 a0008c0011t0002g0021	2	248	0.0081	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	a0003c0003t0002g0132 a0003c0003t0002g0139 a0003c0003t0002g0132 a0003c0003t0002g0139	2	248	0.0081	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	290	0.0035	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	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0006 a0011c0010t0006	a0011c0010t0006g0049 a0011c0010t0006g0049	1	284	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	a0001c0001t0005g0253 a0001c0001t0007g0044 a0001c0001t0005g0253 a0001c0001t0007g0044	2	350	0.0057	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	a0002c0002t0001g0087 a0002c0002t0001g0093 a0012c0014t0001g0070 a0002c0002t0001g0087 a0002c0002t0001g0093 a0012c0014t0001g0070	3	344	0.0087	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	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0092 a0006c0008t0001g0092	1	344	0.0029	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	a0002c0002t0001g0108 a0002c0002t0001g0108	1	344	0.0029	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	a0001c0001t0002g0247 a0001c0001t0002g0247	1	344	0.0029	30	c.128 others(49): Show c.1289-2850_1289-2849insTTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar

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