Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
EML1_chr14_99788413_99947060	99838930	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01346.hp1 HG02040.hp2 others(15): Show HG01074.hp1 HG01346.hp1 HG02040.hp2 HG02132.hp1 HG02523.hp1 HG02896.hp1 HG02976.hp1 HG03927.hp2 NA18747.hp2 NA18947.hp2 NA18955.hp2 NA18957.hp1 NA18977.hp1 NA18998.hp1 NA19005.hp1 NA19060.hp1 NA19084.hp2 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0002c0001 others(1): Show a0001c0003 a0001c0004 a0002c0001 a0003c0002	a0001c0003t0003 a0001c0004t0003 a0002c0001t0001 others(3): Show a0001c0003t0003 a0001c0004t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0003c0002t0001	a0001c0003t0003g0034 a0001c0003t0003g0279 a0001c0004t0003g0199 others(15): Show a0001c0003t0003g0034 a0001c0003t0003g0279 a0001c0004t0003g0199 a0002c0001t0001g0216 a0002c0001t0001g0219 a0002c0001t0002g0038 a0002c0001t0002g0039 a0002c0001t0002g0082 a0002c0001t0002g0102 a0002c0001t0002g0157 a0002c0001t0002g0174 a0002c0001t0002g0196 a0002c0001t0002g0224 a0002c0001t0003g0119 a0002c0001t0003g0188 a0002c0001t0003g0189 a0003c0002t0001g0037 a0003c0002t0001g0237	18	288	0.0625	18	c.68- others(35): Show c.68-11922_68-11921insTGTGTGTGTGTGTGTGCG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99919425	G G	GACACACA others(11): Show GACACACACACAGACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp1 HG01261.hp1 others(2): Show HG00323.hp2 HG01243.hp1 HG01261.hp1 HG02717.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0001 a0001c0003t0002 a0001c0013t0001 a0001c0003t0001 a0001c0003t0002 a0001c0013t0001	a0001c0003t0001g0086 a0001c0003t0001g0193 a0001c0003t0001g0269 others(2): Show a0001c0003t0001g0086 a0001c0003t0001g0193 a0001c0003t0001g0269 a0001c0003t0002g0181 a0001c0013t0001g0126	5	288	0.0174	18	c.182 others(37): Show c.1821-1353_1821-1352insGACACACACACACACACA		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928017	G G	GTGGTGGT others(11): Show GTGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02004.hp2 HG01981.hp2 HG02004.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0002 a0003c0002t0001 a0003c0002t0002	a0003c0002t0001g0055 a0003c0002t0002g0222 a0003c0002t0001g0055 a0003c0002t0002g0222	2	288	0.0069	18	c.190 others(37): Show c.1909+7148_1909+7149insATGGTGGTGATGGTGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42169324	C C	CGCGGGCG others(11): Show CGCGGGCGCGGGCGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	358	0.0028	18	c.-28 others(27): Show c.-288_-287insGCGGGCGCGGGCGCGGGG		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding					28		chr2	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp2 others(11): Show HG00423.hp2 HG00438.hp1 HG00609.hp2 HG01884.hp2 HG02074.hp2 HG02155.hp2 HG02647.hp2 HG03041.hp1 HG03139.hp2 HG03486.hp2 HG03927.hp2 NA18947.hp1 NA18960.hp1 NA19005.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0003c0003t0002 a0003c0003t0012	a0001c0001t0002g0196 a0001c0001t0002g0238 a0001c0001t0002g0356 others(11): Show a0001c0001t0002g0196 a0001c0001t0002g0238 a0001c0001t0002g0356 a0001c0001t0003g0123 a0001c0001t0003g0190 a0001c0001t0005g0334 a0003c0003t0002g0214 a0003c0003t0002g0215 a0003c0003t0002g0285 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0297 a0003c0003t0012g0258 a0003c0003t0012g0259	14	358	0.0391	18	c.26- others(31): Show c.26-410_26-393dupTTTTTTTTTTTTTTTTTT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42306484	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03834.hp2 NA18944.hp1 others(8): Show HG02135.hp1 HG03834.hp2 NA18944.hp1 NA18960.hp2 NA18967.hp2 NA18969.hp1 NA18974.hp2 NA18994.hp1 NA19000.hp2 NA19080.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0028 a0002c0002t0001g0037 a0002c0002t0001g0039 others(8): Show a0002c0002t0001g0028 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0049 a0002c0002t0001g0062 a0002c0002t0001g0075 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0002g0344	11	358	0.0307	18	c.196 others(37): Show c.1967+1942_1967+1959dupTTTTTTTTTTTTTTTTTT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325596	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp1 HG02040.hp1 others(6): Show HG00673.hp2 HG02027.hp1 HG02040.hp1 HG02083.hp2 HG02559.hp1 NA18952.hp1 NA18966.hp1 NA19000.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0026 a0002c0002t0001g0039 others(6): Show a0002c0002t0001g0017 a0002c0002t0001g0026 a0002c0002t0001g0039 a0002c0002t0001g0067 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0113	9	358	0.0251	18	c.224 others(33): Show c.2242+47_2242+48insATATATATATATATATAT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01928.hp2 HG01934.hp1 others(11): Show HG01168.hp2 HG01928.hp2 HG01934.hp1 HG03669.hp2 HG03710.hp2 HG03942.hp2 HG04204.hp2 NA18950.hp1 NA18974.hp1 NA18983.hp1 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19065.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0009t0002 a0002c0002t0013 others(2): Show a0001c0001t0002 a0001c0009t0002 a0002c0002t0013 a0003c0003t0002 a0003c0003t0004	a0001c0001t0002g0217 a0001c0001t0002g0230 a0001c0001t0002g0278 others(11): Show a0001c0001t0002g0217 a0001c0001t0002g0230 a0001c0001t0002g0278 a0001c0001t0002g0300 a0001c0001t0002g0352 a0001c0009t0002g0198 a0002c0002t0013g0066 a0003c0003t0002g0243 a0003c0003t0002g0261 a0003c0003t0002g0296 a0003c0003t0004g0212 a0003c0003t0004g0223 a0003c0003t0004g0246 a0003c0003t0004g0276	14	358	0.0391	18	c.224 others(33): Show c.2242+68_2242+85dupATATATATATATATATAT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	358	0.0028	18	c.224 others(33): Show c.2242+49_2242+50insTTATATATATATATATAT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88647687	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG03041.hp1 HG01243.hp1 HG01884.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0024 a0001c0001t0036 a0001c0001t0022 a0001c0001t0024 a0001c0001t0036	a0001c0001t0022g0204 a0001c0001t0024g0206 a0001c0001t0036g0205 a0001c0001t0022g0204 a0001c0001t0024g0206 a0001c0001t0036g0205	3	332	0.0090	18	c.402 others(35): Show c.4020-750_4020-733dupTTTTTTTTTTTTTTTTTT		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	28/43						chr14	TogoVar
EML5_chr14_88607431_88797953	88745167	T T	TTGTTTGT others(11): Show TTGTTTGTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01891.hp2 others(7): Show HG01515.hp2 HG01517.hp1 HG01891.hp2 HG02559.hp1 HG02647.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03486.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0022 a0003c0005t0015	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0002g0168 others(6): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0002g0168 a0001c0001t0006g0003 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0022g0204 a0003c0005t0015g0014	10	332	0.0301	18	c.456 others(35): Show c.456+1017_456+1018insCACACACACAAACAAACA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	3/43						chr14	TogoVar
EML5_chr14_88607431_88797953	88759685	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03130.hp1 HG03209.hp1 others(3): Show HG02717.hp2 HG03130.hp1 HG03209.hp1 HG03579.hp1 NA18939.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0001t0024 a0001c0003t0004 others(2): Show a0001c0001t0014 a0001c0001t0024 a0001c0003t0004 a0001c0003t0013 a0001c0003t0020	a0001c0001t0014g0004 a0001c0001t0014g0005 a0001c0001t0024g0207 others(3): Show a0001c0001t0014g0004 a0001c0001t0014g0005 a0001c0001t0024g0207 a0001c0003t0004g0313 a0001c0003t0013g0298 a0001c0003t0020g0174	6	332	0.0181	18	c.198 others(35): Show c.198-5032_198-5015dupTTTTTTTTTTTTTTTTTT		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	1/43						chr14	TogoVar
EML6_chr2_54718662_54977025	54797164	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03710.hp2 NA18948.hp2 others(3): Show HG02040.hp2 HG03710.hp2 NA18948.hp2 NA18966.hp1 NA18999.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0032 a0001c0001t0001 a0001c0002t0032	a0001c0001t0001g0076 a0001c0001t0001g0177 a0001c0001t0001g0183 others(3): Show a0001c0001t0001g0076 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0223 a0001c0002t0032g0141	6	264	0.0227	18	c.198 others(37): Show c.198-16060_198-16043dupAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54806612	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	264	0.0038	18	c.198 others(35): Show c.198-6605_198-6588dupAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01106.hp2 others(5): Show HG00280.hp2 HG00323.hp1 HG01106.hp2 HG01978.hp2 HG02055.hp1 HG02630.hp2 HG02809.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0019 a0001c0001t0021 others(4): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0021 a0001c0002t0004 a0001c0002t0010 a0001c0002t0046 a0001c0005t0010	a0001c0001t0003g0096 a0001c0001t0019g0167 a0001c0001t0021g0044 others(5): Show a0001c0001t0003g0096 a0001c0001t0019g0167 a0001c0001t0021g0044 a0001c0001t0021g0045 a0001c0002t0004g0075 a0001c0002t0010g0071 a0001c0002t0046g0051 a0001c0005t0010g0060	8	264	0.0303	18	c.525 others(35): Show c.525+3398_525+3415dupCTCTCTCTCTCTCTCTCT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54846923	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00738.hp1 others(15): Show HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01175.hp2 HG01257.hp2 HG01361.hp1 HG01952.hp2 HG02257.hp1 HG03017.hp1 HG03491.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18952.hp1 NA18955.hp2 NA18966.hp2 NA18995.hp1 NA19087.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0033 a0001c0001 a0001c0003 a0006c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0015 a0006c0033t0001	a0001c0001t0001g0190 a0001c0001t0002g0189 a0001c0001t0004g0029 others(15): Show a0001c0001t0001g0190 a0001c0001t0002g0189 a0001c0001t0004g0029 a0001c0001t0007g0026 a0001c0003t0002g0148 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0176 a0001c0003t0002g0255 a0001c0003t0004g0195 a0001c0003t0009g0107 a0001c0003t0009g0111 a0001c0003t0009g0122 a0001c0003t0015g0109 a0006c0033t0001g0208	18	264	0.0682	18	c.105 others(35): Show c.1050-550_1050-549insTTTTTTTTTTTTTTTTTT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	8/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54848524	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00639.hp2 others(28): Show HG00099.hp1 HG00280.hp1 HG00639.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01255.hp1 HG01975.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp2 NA18945.hp2 NA18957.hp2 NA18994.hp1 NA19043.hp2 NA19081.hp2 NA20905.hp2 NA21309.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0014 a0001c0029 a0001c0037 a0006c0033 a0009c0032	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(21): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0020 a0001c0002t0023 a0001c0002t0044 a0001c0003t0002 a0001c0004t0007 a0001c0004t0016 a0001c0005t0001 a0001c0005t0003 a0001c0005t0024 a0001c0014t0003 a0001c0029t0001 a0001c0037t0015 a0006c0033t0001 a0009c0032t0006	a0001c0001t0004g0029 a0001c0001t0005g0215 a0001c0001t0008g0123 others(28): Show a0001c0001t0004g0029 a0001c0001t0005g0215 a0001c0001t0008g0123 a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0016g0031 a0001c0001t0018g0037 a0001c0001t0019g0169 a0001c0002t0001g0072 a0001c0002t0003g0125 a0001c0002t0006g0263 a0001c0002t0020g0162 a0001c0002t0020g0163 a0001c0002t0023g0142 a0001c0002t0044g0210 a0001c0003t0002g0253 a0001c0003t0002g0256 a0001c0004t0007g0046 a0001c0004t0007g0047 a0001c0004t0007g0049 a0001c0004t0016g0085 a0001c0005t0001g0079 a0001c0005t0003g0118 a0001c0005t0003g0119 a0001c0005t0003g0121 a0001c0005t0024g0050 a0001c0014t0003g0128 a0001c0029t0001g0057 a0001c0037t0015g0113 a0006c0033t0001g0208 a0009c0032t0006g0005	31	264	0.1174	18	c.118 others(35): Show c.1187+911_1187+928dupCACACACACACACACACA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	9/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02809.hp1 NA19030.hp1 others(1): Show HG02723.hp2 HG02809.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0072 a0001c0002t0010g0025 a0001c0002t0010g0056 others(1): Show a0001c0002t0001g0072 a0001c0002t0010g0025 a0001c0002t0010g0056 a0001c0002t0010g0071	4	264	0.0152	18	c.243 others(37): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAGA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54923367	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0017 a0005c0022t0017	a0005c0022t0017g0160 a0005c0022t0017g0160	1	264	0.0038	18	c.367 others(37): Show c.3676-4925_3676-4908dupCACACACACACACACACA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	26/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(11): Show GTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01167.hp1 others(5): Show HG00642.hp1 HG01074.hp1 HG01167.hp1 HG01433.hp1 HG01516.hp1 HG01975.hp1 HG02257.hp1 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0009 a0001c0003t0035 others(1): Show a0001c0003t0002 a0001c0003t0009 a0001c0003t0035 a0001c0003t0054	a0001c0003t0002g0151 a0001c0003t0002g0154 a0001c0003t0002g0156 others(5): Show a0001c0003t0002g0151 a0001c0003t0002g0154 a0001c0003t0002g0156 a0001c0003t0002g0158 a0001c0003t0002g0257 a0001c0003t0009g0100 a0001c0003t0035g0173 a0001c0003t0054g0166	8	264	0.0303	18	c.496 others(35): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP1_chr12_13191726_13224941	13195108	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp1 others(133): Show HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18952.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0032 a0001c0001t0035 a0001c0001t0038 a0001c0001t0050 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0003t0001 a0004c0005t0039	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(80): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0073 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0222 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0024 a0001c0001t0002g0035 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0203 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0003g0034 a0001c0001t0003g0041 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0003g0234 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0045 a0001c0001t0004g0075 a0001c0001t0004g0100 a0001c0001t0004g0112 a0001c0001t0004g0137 a0001c0001t0004g0224 a0001c0001t0005g0002 a0001c0001t0005g0085 a0001c0001t0005g0104 a0001c0001t0005g0236 a0001c0001t0005g0244 a0001c0001t0006g0003 a0001c0001t0006g0005 a0001c0001t0006g0239 a0001c0001t0007g0009 a0001c0001t0007g0022 a0001c0001t0007g0036 a0001c0001t0007g0080 a0001c0001t0007g0136 a0001c0001t0007g0245 a0001c0001t0008g0021 a0001c0001t0008g0070 a0001c0001t0009g0105 a0001c0001t0012g0124 a0001c0001t0013g0003 a0001c0001t0013g0084 a0001c0001t0014g0237 a0001c0001t0015g0095 a0001c0001t0016g0089 a0001c0001t0016g0228 a0001c0001t0018g0076 a0001c0001t0018g0101 a0001c0001t0020g0002 a0001c0001t0024g0081 a0001c0001t0032g0020 a0001c0001t0035g0083 a0001c0001t0038g0008 a0001c0001t0050g0074 a0001c0001t0054g0110 a0001c0001t0055g0002 a0001c0001t0057g0074 a0001c0003t0001g0010 a0004c0005t0039g0072	136	444	0.3063	18	c.-18 others(29): Show c.-1807_-1806insTGTGTGTGTGTGTGTGTG		EMP1	ENSG00000134531.10	transcript	ENST00000256951.10	protein_coding					1617		chr12	TogoVar
EMP2_chr16_10523422_10585598	10581967	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0187 a0001c0001t0009g0187	1	402	0.0025	18	c.-14 others(29): Show c.-1480_-1479insCACACACACACACACACA		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding					1370		chr16	TogoVar
EMP3_chr19_48320552_48335553	48331222	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	376	0.0027	18	c.75 others(27): Show c.752_*753insTTTTTTTTTTTTTTTTTG		EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding					670		chr19	TogoVar
EMX2_chr10_117537746_117554546	117542345	A A	AGAGGAGG others(11): Show AGAGGAGGAGGAAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0017 a0001c0003t0023g0017	1	402	0.0025	18	c.-92 others(27): Show c.-923_-922insGAGGAGGAGGAAGAAGAG		EMX2	ENSG00000170370.12	transcript	ENST00000553456.5	protein_coding					400		chr10	TogoVar
ENAH_chr1_225481829_225658123	225519331	A A	ATCCAGGC others(11): Show ATCCAGGCGTTCCTGCCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01074.hp1 HG01258.hp2 HG02074.hp2 others(5): Show HG01074.hp1 HG01258.hp2 HG02074.hp2 HG02080.hp1 HG02602.hp2 HG02622.hp1 NA18957.hp1 NA19082.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0008 a0003c0004t0011 others(5): Show a0003c0004t0004 a0003c0004t0008 a0003c0004t0011 a0003c0004t0019 a0003c0004t0037 a0003c0004t0051 a0003c0004t0062 a0003c0004t0092	a0003c0004t0004g0258 a0003c0004t0008g0298 a0003c0004t0011g0197 others(5): Show a0003c0004t0004g0258 a0003c0004t0008g0298 a0003c0004t0011g0197 a0003c0004t0019g0235 a0003c0004t0037g0192 a0003c0004t0051g0236 a0003c0004t0062g0016 a0003c0004t0092g0061	8	308	0.0260	18	c.651 others(25): Show c.651_668dupGCGGCAGGAACGCCTGGA	p.Glu others(13): Show p.Glu217_Leu222dup	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	5/14	1101/13092	668/1713	223/570			chr1	TogoVar
ENDOD1_chr11_95084846_95137645	95108494	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18967.hp2 NA18977.hp2 others(3): Show HG02486.hp2 NA18967.hp2 NA18977.hp2 NA19057.hp2 NA19086.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0002 a0001c0001t0006 a0002c0002t0002	a0001c0001t0006g0180 a0001c0001t0006g0208 a0002c0002t0002g0026 others(2): Show a0001c0001t0006g0180 a0001c0001t0006g0208 a0002c0002t0002g0026 a0002c0002t0002g0319 a0002c0002t0002g0322	6	368	0.0163	18	c.300 others(37): Show c.300+18283_300+18300dupCACACACACACACACACA		ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr11	TogoVar
ENDOD1_chr11_95084846_95137645	95133737	A A	AGGATCAA others(11): Show AGGATCAAAGTGTGGTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0271 a0002c0002t0002g0271	1	368	0.0027	18	c.41 others(29): Show c.4158_*4159insGGATCAAAGTGTGGTCTG		ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding					1093		chr11	TogoVar
ENDOU_chr12_47704734_47730490	47728284	C C	CACACACA others(11): Show CACACACACACACAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	18	c.-28 others(29): Show c.-2872_-2871insCTCTCTGTGTGTGTGTGT		ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding					2795		chr12	TogoVar
ENDOU_chr12_47704734_47730490	47728284	C C	CACACACA others(11): Show CACACACAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	18	c.-28 others(29): Show c.-2872_-2871insCTCTCTCTCTCTGTGTGT		ENDOU	ENSG00000111405.9	transcript	ENST00000422538.8	protein_coding					2795		chr12	TogoVar
ENKUR_chr10_24976985_25021158	24988664	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0229 a0001c0001t0010g0229	1	384	0.0026	18	c.594 others(35): Show c.594+1798_594+1799insTATATATATATATATACA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5						chr10	TogoVar
ENKUR_chr10_24976985_25021158	25020238	A A	ATATATCT others(11): Show ATATATCTATATCTATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG02717.hp1 others(2): Show HG00280.hp2 HG00738.hp2 HG02717.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0140 a0001c0001t0003g0065 a0001c0001t0005g0254 others(2): Show a0001c0001t0001g0140 a0001c0001t0003g0065 a0001c0001t0005g0254 a0001c0001t0007g0129 a0001c0001t0010g0229	5	384	0.0130	18	c.-43 others(29): Show c.-4320_-4303dupGATATAGATATAGATATA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding					4081		chr10	TogoVar
ENO2_chr12_6909580_6928697	6925117	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG03540.hp1 others(2): Show HG02976.hp2 HG03453.hp2 HG03540.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0055 a0001c0001t0006g0062 a0001c0001t0006g0016 a0001c0001t0006g0055 a0001c0001t0006g0062	5	376	0.0133	18	c.23 others(29): Show c.2317_*2318insGTGTGTGTGTGTGTGTGT		ENO2	ENSG00000111674.9	transcript	ENST00000229277.6	protein_coding					1421		chr12	TogoVar
ENO4_chr10_116844499_116887601	116875561	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01928.hp1 others(33): Show HG00609.hp2 HG00621.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG03239.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18974.hp2 NA18980.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19003.hp1 NA19054.hp2 NA19062.hp1 NA19066.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0020 a0001c0002t0021 a0001c0008t0002	a0001c0001t0001g0283 a0001c0001t0001g0316 a0001c0001t0002g0042 others(27): Show a0001c0001t0001g0283 a0001c0001t0001g0316 a0001c0001t0002g0042 a0001c0002t0001g0004 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0002g0007 a0001c0002t0002g0025 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0163 a0001c0002t0004g0079 a0001c0002t0004g0146 a0001c0002t0004g0153 a0001c0002t0020g0041 a0001c0002t0021g0148 a0001c0008t0002g0241	36	400	0.0900	18	c.134 others(35): Show c.1342-495_1342-478dupCACACACACACACACACA		ENO4	ENSG00000188316.16	transcript	ENST00000341276.11	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
ENOSF1_chr18_665318_717630	666933	T T	TGATGGTG others(11): Show TGATGGTGATGGAGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0102 a0002c0002t0025g0102	1	418	0.0024	18	c.73 others(29): Show c.7371_*7372insTCCATCTCCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3384		chr18	TogoVar
ENOSF1_chr18_665318_717630	666933	T T	TGATGGTG others(11): Show TGATGGTGATGGTGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0380 a0003c0007t0002g0380	1	418	0.0024	18	c.73 others(29): Show c.7371_*7372insTCCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3384		chr18	TogoVar
ENOSF1_chr18_665318_717630	667155	T T	TGATGGAG others(11): Show TGATGGAGATGGAGATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0383 a0003c0004t0003g0383	1	418	0.0024	18	c.71 others(29): Show c.7149_*7150insTCCATCTCCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3162		chr18	TogoVar
ENOSF1_chr18_665318_717630	699478	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp1 HG02055.hp2 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0015 a0002c0002 a0002c0015	a0002c0002t0009 a0002c0015t0002 a0002c0002t0009 a0002c0015t0002	a0002c0002t0009g0026 a0002c0015t0002g0260 a0002c0002t0009g0026 a0002c0015t0002g0260	2	418	0.0048	18	c.194 others(35): Show c.194-2141_194-2124dupATTATTATTATTATTATT		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	2/15						chr18	TogoVar
ENOSF1_chr18_665318_717630	712349	G G	GCCGCGCG others(11): Show GCCGCGCGTACCATGGCGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0259 a0001c0003t0001g0259	1	418	0.0024	18	c.84+ others(31): Show c.84+137_84+154dupACGCCATGGTACGCGCGG		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15						chr18	TogoVar
ENOSF1_chr18_665318_717630	712349	G G	GCCGCGCT others(11): Show GCCGCGCTTACCATGGCGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01891.hp1 HG01978.hp1 others(8): Show HG00609.hp2 HG01891.hp1 HG01978.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG04184.hp2 NA18522.hp2 NA18988.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0005	a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0003t0001 a0001c0006t0004 a0002c0002t0002 a0002c0002t0004 a0002c0005t0001	a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 others(8): Show a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0003t0001g0234 a0001c0006t0004g0235 a0002c0002t0002g0231 a0002c0002t0004g0233 a0002c0005t0001g0232	11	418	0.0263	18	c.84+ others(31): Show c.84+154_84+155insACGCCATGGTAAGCGCGG		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15						chr18	TogoVar
ENOSF1_chr18_665318_717630	712356	G G	GTACCATG others(11): Show GTACCATGGCGTCCGCGCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp2 HG01074.hp1 others(25): Show HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG02015.hp1 HG02040.hp1 HG02148.hp2 HG02622.hp1 HG02683.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 NA18947.hp2 NA18948.hp1 NA18955.hp1 NA18984.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19068.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0003c0011 a0005c0010	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0003t0001 a0001c0003t0007 a0001c0003t0023 a0001c0006t0004 a0002c0002t0005 a0002c0002t0011 a0003c0011t0001 a0005c0010t0002 a0005c0010t0029	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 others(24): Show a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0008g0242 a0001c0001t0008g0243 a0001c0001t0008g0244 a0001c0001t0010g0257 a0001c0001t0020g0236 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0001g0241 a0001c0003t0001g0249 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0007g0247 a0001c0003t0023g0248 a0001c0006t0004g0006 a0001c0006t0004g0237 a0002c0002t0005g0256 a0002c0002t0011g0240 a0003c0011t0001g0401 a0005c0010t0002g0346 a0005c0010t0029g0345	28	418	0.0670	18	c.84+ others(31): Show c.84+130_84+147dupAGCGCGGACGCCATGGTA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15						chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp2 HG00621.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0063 a0001c0001t0002g0006 a0001c0001t0002g0063	2	188	0.0106	18	c.161 others(39): Show c.1612-11146_1612-11145insAAAAAAAAAATATATATA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA20129.hp1 NA18954.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0006 a0001c0001t0004 a0001c0002t0006	a0001c0001t0004g0071 a0001c0002t0006g0176 a0001c0001t0004g0071 a0001c0002t0006g0176	2	188	0.0106	18	c.161 others(39): Show c.1612-11146_1612-11145insAAAAAAAAAAAAAATATA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA18977.hp1 HG01516.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0134 a0001c0001t0008g0084 a0001c0001t0007g0134 a0001c0001t0008g0084	2	188	0.0106	18	c.161 others(39): Show c.1612-11146_1612-11145insAAAAAAAAAAAAAAAATA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43417242	C C	CGGGAGAG others(11): Show CGGGAGAGGGAGAGGGAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0177 a0001c0001t0038g0177	1	188	0.0053	18	c.-74 others(35): Show c.-74-4255_-74-4254insTTTCCCTCTCCCTCTCCC		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43417242	C C	CGGGAGAG others(11): Show CGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01109.hp1 others(34): Show HG00639.hp2 HG01074.hp1 HG01109.hp1 HG01258.hp2 HG01261.hp2 HG01943.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02922.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03516.hp1 HG03831.hp1 NA18944.hp1 NA18960.hp2 NA18962.hp2 NA18973.hp2 NA18978.hp2 NA18984.hp1 NA18985.hp2 NA19004.hp2 NA19043.hp1 NA19062.hp2 NA19081.hp1 NA19085.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0001t0026 a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0027 a0001c0003t0011 a0001c0003t0013 a0001c0008t0002	a0001c0001t0001g0098 a0001c0001t0002g0036 a0001c0001t0002g0050 others(34): Show a0001c0001t0001g0098 a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0082 a0001c0001t0003g0013 a0001c0001t0003g0097 a0001c0001t0004g0003 a0001c0001t0005g0140 a0001c0001t0005g0149 a0001c0001t0007g0183 a0001c0001t0008g0001 a0001c0001t0008g0105 a0001c0001t0009g0032 a0001c0001t0009g0101 a0001c0001t0011g0165 a0001c0001t0014g0110 a0001c0001t0014g0117 a0001c0001t0021g0106 a0001c0001t0026g0092 a0001c0002t0001g0038 a0001c0002t0001g0053 a0001c0002t0001g0060 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0006g0174 a0001c0002t0012g0026 a0001c0002t0012g0034 a0001c0002t0027g0121 a0001c0003t0011g0163 a0001c0003t0011g0171 a0001c0003t0013g0093 a0001c0003t0013g0095 a0001c0008t0002g0077	37	188	0.1968	18	c.-74 others(35): Show c.-74-4272_-74-4255dupTCTCCCTCTCCCTCTCCC		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43470365	C C	CGTATATA others(11): Show CGTATATATGTATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	188	0.0053	18	c.-75 others(37): Show c.-75+13643_-75+13644insATATATATACATATATAC		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43541173	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03710.hp1 HG02809.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0003 a0001c0002t0001 a0001c0005t0003	a0001c0002t0001g0068 a0001c0005t0003g0052 a0001c0002t0001g0068 a0001c0005t0003g0052	2	188	0.0106	18	c.-21 others(39): Show c.-218-57039_-218-57022dupAAAAAAAAAAAAAAAAAA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616112	C C	CTATATAT others(11): Show CTATATATATAGATATCTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp1 HG02886.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0013 a0001c0002t0001g0016 a0001c0001t0003g0013 a0001c0002t0001g0016	2	188	0.0106	18	c.-21 others(39): Show c.-219+51366_-219+51367insTAGATATCTATATATATA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616170	C C	CTAGATAG others(11): Show CTAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	188	0.0053	18	c.-21 others(39): Show c.-219+51308_-219+51309insTATCTATCTATCTATCTA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616170	C C	CTAGATAG others(11): Show CTAGATAGATAGATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	188	0.0053	18	c.-21 others(39): Show c.-219+51308_-219+51309insTATATATCTATCTATCTA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16						chr13	TogoVar

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