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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02622.hp2 HG02886.hp1 others(3): Show HG01358.hp1 HG02622.hp2 HG02886.hp1 NA18522.hp2 NA18747.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0004t0002	a0001c0001t0001g0070 a0001c0001t0008g0179 a0001c0001t0012g0238 others(3): Show a0001c0001t0001g0070 a0001c0001t0008g0179 a0001c0001t0012g0238 a0001c0001t0013g0106 a0001c0001t0015g0103 a0001c0004t0002g0276	6	70	0.0857	28	c.410 others(47): Show c.410+50088_410+50089insATATATATATATATATATATATATAT AT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89885727	A A	AAGAGAGA others(21): Show AAGAGAGAAAGAAAGAGAGAGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG02486.hp2 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0009 a0001c0006t0006 a0001c0006t0009	a0001c0006t0006g0263 a0001c0006t0009g0262 a0001c0006t0006g0263 a0001c0006t0009g0262	2	282	0.0071	28	c.410 others(47): Show c.410+45813_410+45814insCTCTTTCTCTCTCTCTTTCTTTCTCT CT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47351304	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0338 a0002c0002t0003g0338	1	325	0.0031	28	c.661 others(45): Show c.661+3354_661+3355insTGTGTGTGTGTGTGCGCGCGCGCGCGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB2_chr1_244964682_245092837	244970641	G G	GCTCCGCC others(21): Show GCTCCGCCCCGCCCCGCCCCGCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	254	0.0039	28	c.25+ others(41): Show c.25+199_25+200insTCCGCCCCGCCCCGCCCCGCCTCTCTCC	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB5_chr17_29936634_30113452	30041210	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02451.hp2 HG01891.hp1 HG02258.hp1 HG02451.hp2	a0005 a0009 a0005 a0009	a0005c0007 a0009c0011 a0005c0007 a0009c0011	a0005c0007t0002 a0009c0011t0002 a0005c0007t0002 a0009c0011t0002	a0005c0007t0002g0138 a0009c0011t0002g0020 a0009c0011t0002g0021 a0005c0007t0002g0138 a0009c0011t0002g0020 a0009c0011t0002g0021	3	85	0.0353	28	c.120 others(47): Show c.1200+6848_1200+6849insGGAAGGAAGGAAGGAAGGAAGGAAGG AA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43618143	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00639.hp2 others(19): Show HG00140.hp2 HG00423.hp1 HG00639.hp2 HG01074.hp1 HG01099.hp2 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG02293.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02970.hp2 HG02976.hp2 NA18951.hp2 NA18979.hp1 NA19060.hp2 NA19066.hp2 NA19080.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0011 a0013	a0001c0035 a0002c0002 a0002c0038 others(4): Show a0001c0035 a0002c0002 a0002c0038 a0003c0003 a0006c0006 a0011c0016 a0013c0018	a0001c0035t0001 a0002c0002t0001 a0002c0038t0001 others(5): Show a0001c0035t0001 a0002c0002t0001 a0002c0038t0001 a0003c0003t0001 a0006c0006t0001 a0011c0016t0001 a0011c0016t0006 a0013c0018t0001	a0001c0035t0001g0235 a0002c0002t0001g0141 a0002c0002t0001g0245 others(19): Show a0001c0035t0001g0235 a0002c0002t0001g0141 a0002c0002t0001g0245 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0038t0001g0260 a0003c0003t0001g0023 a0003c0003t0001g0182 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0221 a0003c0003t0001g0226 a0006c0006t0001g0267 a0006c0006t0001g0279 a0011c0016t0001g0281 a0011c0016t0006g0266 a0013c0018t0001g0092	22	199	0.1106	28	c.246 others(47): Show c.2466-2222_2466-2221insTCCTTCCTTCCTTCCTTCCTTCCTTC CT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(21): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	140	0.0071	28	c.246 others(47): Show c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCTTTCTTTCCT TC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02300.hp2 HG02886.hp1 others(3): Show HG01070.hp2 HG02300.hp2 HG02886.hp1 NA18962.hp2 NA19009.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0046 a0001c0001 a0001c0046	a0001c0001t0001 a0001c0046t0001 a0001c0001t0001 a0001c0046t0001	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0199 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0046t0001g0067	6	145	0.0414	28	c.246 others(47): Show c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCCTTCCTTCCT TC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	140	0.0071	28	c.246 others(47): Show c.2466-2244_2466-2243insTTTCTTTCTTTCCTTCCTTCCTTCCT TC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0202 a0008c0008t0001g0202	1	140	0.0071	28	c.246 others(47): Show c.2466-2244_2466-2243insTTTCTTTCCTTCCTTCCTTCCTTCCT TC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03540.hp1 HG03516.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0240 a0002c0002t0001g0246 a0002c0002t0001g0240 a0002c0002t0001g0246	2	141	0.0142	28	c.246 others(47): Show c.2466-2244_2466-2243insTTTCCTTCCTTCCTTCCTTCCTTCCT TC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32875502	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	189	0.0053	28	c.209 others(43): Show c.209-406_209-405insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32940003	G G	GCCTCCCT others(21): Show GCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01496.hp1 HG03491.hp2 others(1): Show HG00642.hp1 HG01496.hp1 HG03491.hp2 NA19030.hp2	a0004 a0005 a0031 a0004 a0005 a0031	a0004c0004 a0005c0033 a0031c0064 a0004c0004 a0005c0033 a0031c0064	a0004c0004t0003 a0005c0033t0008 a0031c0064t0003 a0004c0004t0003 a0005c0033t0008 a0031c0064t0003	a0004c0004t0003g0060 a0004c0004t0003g0061 a0005c0033t0008g0115 others(1): Show a0004c0004t0003g0060 a0004c0004t0003g0061 a0005c0033t0008g0115 a0031c0064t0003g0085	4	165	0.0242	28	c.279 others(47): Show c.2791-3610_2791-3609insCCCTCCCTCCCTCCCTCCCTCCCTCC CT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32940023	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02818.hp2 HG01261.hp2 HG02818.hp2	a0035 a0041 a0035 a0041	a0035c0058 a0041c0049 a0035c0058 a0041c0049	a0035c0058t0002 a0041c0049t0001 a0035c0058t0002 a0041c0049t0001	a0035c0058t0002g0259 a0041c0049t0001g0199 a0035c0058t0002g0259 a0041c0049t0001g0199	2	183	0.0109	28	c.279 others(47): Show c.2791-3610_2791-3609insCCCTCCCTCCCTCCCTCCCTCCCTTC CT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFEMP1_chr2_55860967_55928782	55865188	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 NA18951.hp2 NA19064.hp2 others(2): Show HG03017.hp2 NA18951.hp2 NA19064.hp2 NA19066.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0007 a0001c0004t0010 a0001c0001t0005 a0001c0001t0007 a0001c0004t0010	a0001c0001t0005g0244 a0001c0001t0007g0013 a0001c0001t0007g0049 others(1): Show a0001c0001t0005g0244 a0001c0001t0007g0013 a0001c0001t0007g0049 a0001c0004t0010g0290	5	269	0.0186	28	c.18 others(39): Show c.1884_*1885insATATATATATATATATATATATATATAT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding		778		chr2	TogoVar
EFHB_chr3_19874472_19939217	19892883	A A	AAATAAAA others(21): Show AAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp2 HG03209.hp2 HG01884.hp1 HG02723.hp2 HG03209.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0275 a0002c0009t0002g0276 a0002c0009t0002g0277 a0002c0009t0002g0275 a0002c0009t0002g0276 a0002c0009t0002g0277	3	203	0.0148	28	c.172 others(47): Show c.1725+3803_1725+3804insATTTTATTTTATTTTATTTTATTTTA TT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0078 a0012c0014t0001g0078	1	214	0.0047	28	c.128 others(47): Show c.1289-2841_1289-2814dupCTCTCTCTCTCTCTCTCTCTCTCTCT CT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52493365	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG02630.hp1 HG02970.hp1 HG00438.hp1 HG02630.hp1 HG02970.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0062 a0003c0002t0063 a0003c0002t0064 a0001c0001t0062 a0003c0002t0063 a0003c0002t0064	a0001c0001t0062g0298 a0003c0002t0063g0141 a0003c0002t0064g0213 a0001c0001t0062g0298 a0003c0002t0063g0141 a0003c0002t0064g0213	3	128	0.0234	28	c.10 others(39): Show c.1044_*1045insATATATATATATATATATATATATATAT	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(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01981.hp1 HG02615.hp1 others(2): Show HG01168.hp2 HG01981.hp1 HG02615.hp1 HG02683.hp1 NA18983.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0013 a0008c0010 a0001c0001 a0001c0013 a0008c0010	a0001c0001t0003 a0001c0001t0006 a0001c0013t0003 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0013t0003 a0008c0010t0003	a0001c0001t0003g0043 a0001c0001t0003g0145 a0001c0001t0006g0028 others(2): Show a0001c0001t0003g0043 a0001c0001t0003g0145 a0001c0001t0006g0028 a0001c0013t0003g0044 a0008c0010t0003g0168	5	93	0.0538	28	c.175 others(47): Show c.1752-8572_1752-8571insTATATATATATATATATATATATATA TA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44194102	A A	ATAGTCAT others(21): Show ATAGTCATTAAGGCAACTAGGTCTCTCAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0156 a0010c0012t0001g0156	1	219	0.0046	28	c.175 others(49): Show c.1752-15566_1752-15539dupATGAGAGACCTAGTTGCCTTAATG ACTA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFHD1_chr2_232628604_232687776	232677207	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	48	0.0208	28	c.586 others(45): Show c.586-4371_586-4344dupACACACACACACACACACACACACACAC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFHD2_chr1_15404888_15435339	15433800	C C	CCTGGAGA others(21): Show CCTGGAGAGGGTGCTCAGGGAGAGCCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	422	0.0024	28	c.50 others(39): Show c.5076_*5077insCTGGAGAGGGTGCTCAGGGAGAGCCATA	EFHD2	ENSG00000142634.13	transcript	ENST00000375980.9	protein_coding		3462		chr1	TogoVar
EFL1_chr15_82125233_82267734	82211595	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03041.hp1 HG03139.hp2 others(1): Show HG01106.hp2 HG03041.hp1 HG03139.hp2 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0087 a0002c0002t0001g0092 others(1): Show a0002c0002t0001g0072 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0001g0121	4	167	0.0240	28	c.175 others(47): Show c.1750+3121_1750+3122insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107476046	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	71	0.0141	28	c.126 others(47): Show c.126-48538_126-48537insTACATATATATATATATATATATATA TA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569373	A A	ATATATAT others(21): Show ATATATATATATATTTATGTATATGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0089 a0001c0001t0007g0089	1	177	0.0056	28	c.125 others(49): Show c.125+101115_125+101116insCACACATATACATAAATATATATA TATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569373	A A	ATATATAT others(21): Show ATATATATATATTTTTATGTATATGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0129 a0001c0001t0035g0129	1	177	0.0056	28	c.125 others(49): Show c.125+101115_125+101116insCACACATATACATAAAAATATATA TATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107569559	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02055.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0011 a0001c0001t0018	a0001c0001t0011g0061 a0001c0001t0018g0060 a0001c0001t0011g0061 a0001c0001t0018g0060	2	52	0.0385	28	c.125 others(49): Show c.125+100929_125+100930insTAAATATATATATATATATATATA TATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	132014011	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	253	0.0040	28	c.31 others(39): Show c.3116_*3117insATATATATATATATATATATATACACAC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		370		chr8	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 NA19030.hp2 HG03834.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0003 a0003c0004t0017 a0001c0003t0003 a0003c0004t0017	a0001c0003t0003g0035 a0003c0004t0017g0281 a0001c0003t0003g0035 a0003c0004t0017g0281	2	29	0.0690	28	c.72 others(39): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03579.hp2 HG01361.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0025 a0001c0004t0001 a0001c0004t0025	a0001c0004t0001g0166 a0001c0004t0025g0015 a0001c0004t0001g0166 a0001c0004t0025g0015	2	21	0.0952	28	c.270 others(47): Show c.2702-2524_2702-2523insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109932360	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00735.hp1 others(47): Show HG00323.hp2 HG00609.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03710.hp2 HG04184.hp2 NA18954.hp2 NA18959.hp2 NA18970.hp1 NA18988.hp1 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp2 NA19063.hp2 NA19068.hp1 NA19078.hp2 NA19081.hp1 NA19084.hp2 NA20905.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0014 a0020	a0001c0001 a0001c0007 a0001c0013 others(5): Show a0001c0001 a0001c0007 a0001c0013 a0001c0026 a0002c0002 a0007c0008 a0014c0015 a0020c0029	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0007t0002 a0001c0013t0002 a0001c0013t0006 a0001c0026t0002 a0002c0002t0002 a0002c0002t0006 a0007c0008t0003 a0007c0008t0006 a0014c0015t0005 a0020c0029t0031	a0001c0001t0002g0004 a0001c0001t0002g0064 a0001c0001t0002g0076 others(44): Show a0001c0001t0002g0004 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0310 a0001c0001t0003g0077 a0001c0001t0004g0292 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0353 a0001c0001t0004g0355 a0001c0001t0004g0356 a0001c0001t0004g0357 a0001c0001t0006g0105 a0001c0001t0006g0107 a0001c0001t0011g0142 a0001c0001t0011g0143 a0001c0001t0011g0144 a0001c0001t0011g0145 a0001c0001t0011g0147 a0001c0001t0011g0148 a0001c0001t0015g0371 a0001c0001t0022g0236 a0001c0001t0022g0239 a0001c0001t0025g0098 a0001c0001t0027g0087 a0001c0001t0028g0237 a0001c0007t0002g0006 a0001c0007t0002g0101 a0001c0007t0002g0117 a0001c0013t0002g0072 a0001c0013t0002g0074 a0001c0013t0006g0073 a0001c0026t0002g0096 a0002c0002t0002g0110 a0002c0002t0006g0005 a0007c0008t0003g0363 a0007c0008t0006g0086 a0014c0015t0005g0365 a0020c0029t0031g0234	50	328	0.1524	28	c.128 others(45): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA	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(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 NA18948.hp1 others(6): Show HG00408.hp1 HG00438.hp2 NA18948.hp1 NA18960.hp1 NA18964.hp1 NA18975.hp1 NA19001.hp2 NA19004.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0027 a0001c0001 a0001c0027	a0001c0001t0004 a0001c0001t0013 a0001c0027t0004 a0001c0001t0004 a0001c0001t0013 a0001c0027t0004	a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 others(6): Show a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0325 a0001c0001t0004g0327 a0001c0001t0004g0347 a0001c0001t0013g0324 a0001c0027t0004g0326	9	364	0.0247	28	c.128 others(45): Show c.128-8569_128-8568insTATATATATATATATATATATATATAAA	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(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18953.hp1 NA18998.hp1 others(5): Show NA18945.hp1 NA18953.hp1 NA18998.hp1 NA18999.hp2 NA19009.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0008 a0003c0003t0005 a0003c0003t0008	a0003c0003t0005g0003 a0003c0003t0005g0023 a0003c0003t0005g0043 others(4): Show a0003c0003t0005g0003 a0003c0003t0005g0023 a0003c0003t0005g0043 a0003c0003t0005g0044 a0003c0003t0008g0042 a0003c0003t0008g0045 a0003c0003t0008g0368	8	347	0.0231	28	c.128 others(45): Show c.128-8564_128-8563insATATATATATATATATATATATATATAA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EGLN3_chr14_33919227_33956074	33936236	T T	TATAAATA others(21): Show TATAAATAAATAAATAAATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp1 HG03579.hp1 others(1): Show HG02647.hp2 HG03540.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0027 a0001c0001t0010 a0001c0001t0015 a0001c0001t0027	a0001c0001t0010g0121 a0001c0001t0010g0210 a0001c0001t0015g0187 others(1): Show a0001c0001t0010g0121 a0001c0001t0010g0210 a0001c0001t0015g0187 a0001c0001t0027g0102	4	127	0.0315	28	c.358 others(45): Show c.358-5022_358-5021insTTATTTATTTATTTATTTATTTATTTAT	EGLN3	ENSG00000129521.15	transcript	ENST00000250457.9	protein_coding	1/4			chr14	TogoVar
EHBP1_chr2_62700713_63051487	62900682	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	183	0.0055	28	c.118 others(49): Show c.1185+26151_1185+26152insATATATATATATATATATATATAT ATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62900684	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	180	0.0056	28	c.118 others(49): Show c.1185+26171_1185+26172insATATATATATATATATATATATAT ATAT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	63019830	G G	GGGAGGGA others(21): Show GGGAGGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18963.hp1 HG02735.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0108 a0001c0001t0001g0126	2	40	0.0500	28	c.310 others(49): Show c.3104-17702_3104-17701insGGGAAGGAAGGAAGGAAGGAAGGA AGGA	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD4_chr15_41890933_41977557	41949016	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	112	0.0089	28	c.413 others(45): Show c.413+4720_413+4747dupTATATATATATATATATATATATATATA	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EHD4_chr15_41890933_41977557	41949051	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG02056.hp1 others(1): Show HG01346.hp2 HG01433.hp2 HG02056.hp1 HG02129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0008t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0003 a0002c0005t0001	a0001c0001t0001g0062 a0001c0002t0001g0063 a0001c0008t0003g0050 others(1): Show a0001c0001t0001g0062 a0001c0002t0001g0063 a0001c0008t0003g0050 a0002c0005t0001g0257	4	291	0.0137	28	c.413 others(45): Show c.413+4712_413+4713insGTATATATATATATATATATATATATAT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EHMT1_chr9_137614005_137841127	137836573	G G	GCCCCCCC others(21): Show GCCCCCCCGGGTACCCCCCCCCTACCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0117 a0001c0005t0001g0117	1	168	0.0060	28	c.16 others(39): Show c.1620_*1621insCCCCCCCGGGTACCCCCCCCCTACCCTC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding		447		chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(21): Show TTATATATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02165.hp1 NA18962.hp1 others(1): Show HG02083.hp1 HG02165.hp1 NA18962.hp1 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0277 a0002c0003t0001g0284 a0002c0003t0001g0012 a0002c0003t0001g0277 a0002c0003t0001g0284	4	306	0.0131	28	c.630 others(43): Show c.630+337_630+338insTATATATATATATATATATGTATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6045733	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02602.hp2 HG04184.hp1 others(3): Show HG02056.hp2 HG02602.hp2 HG04184.hp1 NA18963.hp1 NA18999.hp2 NA19090.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0010c0011 a0002c0003 a0010c0011	a0002c0003t0001 a0002c0003t0012 a0010c0011t0023 a0002c0003t0001 a0002c0003t0012 a0010c0011t0023	a0002c0003t0001g0106 a0002c0003t0001g0236 a0002c0003t0001g0241 others(3): Show a0002c0003t0001g0106 a0002c0003t0001g0236 a0002c0003t0001g0241 a0002c0003t0001g0263 a0002c0003t0012g0261 a0010c0011t0023g0283	6	308	0.0195	28	c.630 others(43): Show c.630+337_630+338insTATATATATATATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 HG02027.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0117 a0001c0001t0002g0034 a0001c0001t0002g0117	2	130	0.0154	28	c.119 others(45): Show c.119-1910_119-1909insATATATATATATATATTTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40017551	A A	ATATATAT others(21): Show ATATATATATATATATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18971.hp2 HG02145.hp1 NA18971.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0017 a0003c0003 a0011c0017	a0003c0003t0002 a0011c0017t0002 a0003c0003t0002 a0011c0017t0002	a0003c0003t0002g0082 a0011c0017t0002g0239 a0003c0003t0002g0082 a0011c0017t0002g0239	2	68	0.0294	28	c.406 others(45): Show c.4065+312_4065+313insATATATATATATATATATGTATATGTAT	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(21): Show ATATATATATATATATATATGTATGTATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0005 a0008c0015t0005	a0008c0015t0005g0026 a0008c0015t0005g0026	1	67	0.0149	28	c.406 others(45): Show c.4065+312_4065+313insATATATATATATATATGTATGTATGTAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18747.hp1 HG03704.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0002g0054 a0001c0001t0002g0062	2	101	0.0198	28	c.295 others(47): Show c.295-10290_295-10289insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp1 HG01175.hp1 others(3): Show HG00621.hp1 HG01069.hp1 HG01175.hp1 HG02523.hp1 HG03704.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0062 a0001c0001t0002g0063 others(3): Show a0001c0001t0002g0004 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066	6	30	0.2000	28	c.-10 others(45): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206593508	A A	AGAGAGAG others(21): Show AGAGAGAGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	142	0.0070	28	c.168 others(45): Show c.1684+110_1684+111insACACACACACACACACACACACTCTCTC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF3A_chr10_119028670_119085817	119052366	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0051 a0001c0005t0002g0051	1	335	0.0030	28	c.219 others(47): Show c.2197-1046_2197-1045insCACACACACACACACACACACACACA CA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	9	0.1111	28	c.219 others(47): Show c.2197-1075_2197-1048dupCACACACACACACACACACACACACA CA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar

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