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
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	418	0.0024	52	c.119 others(69): Show c.119-1910_119-1909insATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(45): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	350	0.0029	52	c.219 others(71): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACACACACACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF4EBP2_chr10_70399145_70433618	70408035	A A	ACCCCCCC others(45): Show ACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0107 a0001c0002t0008g0107	1	422	0.0024	52	c.145 others(69): Show c.145+3496_145+3497insCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCC	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIPR1_chr2_3183970_3382818	3219435	G G	GGCCCTGA others(45): Show GGCCCTGATATGCTCTAGAGCTTTCACAGTGAGTCAGGTGCACACCCAAT ACA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	250	0.0040	52	c.417 others(69): Show c.417-5239_417-5188dupTGTATTGGGTGTGCACCTGACTCACTGT GAAAGCTCTAGAGCATATCAGGGC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELANE_chr19_847303_861243	851457	A A	AGGGCCCT others(45): Show AGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGCATGTGGCCGTATC ACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp1 others(107): Show HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01109.hp2 HG01123.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18985.hp2 NA18989.hp2 NA18992.hp1 NA18997.hp2 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0007c0009 a0001c0001 a0001c0004 a0007c0009	a0001c0001t0001 a0001c0004t0001 a0007c0009t0001 a0001c0001t0001 a0001c0004t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0004t0001g0002 a0001c0004t0001g0003 a0007c0009t0001g0016	110	403	0.2730	52	c.-87 others(61): Show c.-872_-871insGGGCCCTGGGTAAACTGAGGCAGGTGACACAGCTGC ATGTGGCCGTATCACG	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		845		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGG AAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	276	0.0036	52	c.60 others(63): Show c.6094_*6095insCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGG AAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	276	0.0036	52	c.60 others(63): Show c.6094_*6095insCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGG AAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	276	0.0036	52	c.60 others(63): Show c.6094_*6095insCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(45): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	352	0.0028	52	c.230 others(69): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELL2_chr5_95880098_95966851	95927389	A A	ATATATAG others(45): Show ATATATAGACATACACACACACGTGTGTATATAGACATACACACACACGT GTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	314	0.0032	52	c.196 others(69): Show c.196-7845_196-7844insCACACGTGTGTGTGTATGTCTATATACA CACGTGTGTGTGTATGTCTATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(45): Show TACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	314	0.0032	52	c.196 others(69): Show c.196-7907_196-7856dupGTATGTCTATATACACACGTGTGTGTGT ATGTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927772	C C	CATATGTG others(45): Show CATATGTGTATATATAGACATATATACACATATGTGTATATATAGACATA TAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0125 a0002c0002t0001g0125	1	314	0.0032	52	c.196 others(69): Show c.196-8228_196-8227insATATATGTCTATATATACACATATGTGT ATATATGTCTATATATACACATAT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELMO1_chr7_36847906_37453864	37086795	A A	AAAAGTTT others(45): Show AAAAGTTTTAAAAATATATTTTTATTTACATTATTTTTCTATGGCTATTC TTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02922.hp2 others(4): Show HG02109.hp1 HG02615.hp2 HG02922.hp2 HG03471.hp1 NA18906.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0002t0007 a0001c0002t0009	a0001c0001t0002g0030 a0001c0001t0003g0065 a0001c0001t0005g0075 others(4): Show a0001c0001t0002g0030 a0001c0001t0003g0065 a0001c0001t0005g0075 a0001c0001t0006g0004 a0001c0001t0016g0060 a0001c0002t0007g0064 a0001c0002t0009g0069	7	92	0.0761	52	c.130 others(71): Show c.1300+9823_1300+9824insAAAGAATAGCCATAGAAAAATAATGT AAATAAAAATATATTTTTAAAACTTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGG others(45): Show GGGCGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	312	0.0032	52	c.-47 others(63): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACACACCCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(45): Show GGGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	312	0.0032	52	c.-47 others(63): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACACACCCCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(45): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	312	0.0032	52	c.-47 others(63): Show c.-4774_-4773insACACACACACACACACACACACACACACACACAC ACACACACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOVL6_chr4_110040846_110203615	110084169	A A	ATATATGA others(45): Show ATATATGATATATATAACATATATGTGATATATATGATATATATAACATA ACT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp1 NA18985.hp1 others(3): Show HG00438.hp2 HG02074.hp1 NA18985.hp1 NA19000.hp2 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0061 a0001c0001t0003 a0001c0001t0010 a0001c0001t0061	a0001c0001t0003g0313 a0001c0001t0010g0181 a0001c0001t0010g0187 others(3): Show a0001c0001t0003g0313 a0001c0001t0010g0181 a0001c0001t0010g0187 a0001c0001t0010g0317 a0001c0001t0010g0322 a0001c0001t0061g0083	6	338	0.0178	52	c.221 others(71): Show c.221+21327_221+21328insAGTTATGTTATATATATCATATATAT CACATATATGTTATATATATCATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084185	A A	ACATATAT others(45): Show ACATATATGTGATATATATGATATATATAACATATAACTTATATGATATA TAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp2 HG02258.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0171 a0001c0001t0007g0052 a0001c0001t0007g0171	2	338	0.0059	52	c.221 others(71): Show c.221+21311_221+21312insATATATATCATATAAGTTATATGTTA TATATATCATATATATCACATATATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(45): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19074.hp1 HG04184.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0040 a0001c0001t0016 a0001c0001t0040	a0001c0001t0016g0098 a0001c0001t0040g0230 a0001c0001t0016g0098 a0001c0001t0040g0230	2	338	0.0059	52	c.90- others(69): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117924	A A	ATATATAT others(45): Show ATATATATATATCTATATCTATATCTATATATATATCTATATCTATATCT ATC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG02559.hp1 others(3): Show HG00735.hp1 HG00738.hp1 HG02559.hp1 HG02723.hp2 HG03453.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0015 a0001c0001t0033 others(2): Show a0001c0001t0011 a0001c0001t0015 a0001c0001t0033 a0001c0001t0035 a0001c0001t0077	a0001c0001t0011g0045 a0001c0001t0015g0148 a0001c0001t0015g0149 others(3): Show a0001c0001t0011g0045 a0001c0001t0015g0148 a0001c0001t0015g0149 a0001c0001t0033g0060 a0001c0001t0035g0329 a0001c0001t0077g0056	6	338	0.0178	52	c.90- others(69): Show c.90-12297_90-12296insGATAGATATAGATATAGATATATATATA GATATAGATATAGATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117924	A A	ATATCTAT others(45): Show ATATCTATATATCTATATCTATATCTATATATATATCTATATCTATATCT ATC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0169 a0001c0001t0033g0169	1	338	0.0030	52	c.90- others(69): Show c.90-12297_90-12296insGATAGATATAGATATAGATATATATATA GATATAGATATAGATATATAGATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158559	A A	ATATATAT others(45): Show ATATATATATACATCTATATATATATGTATATATATACATCTATATATAT ATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp1 HG04199.hp1 HG01106.hp2 HG01361.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027	3	338	0.0089	52	c.89+ others(69): Show c.89+39687_89+39688insCATATATATATAGATGTATATATATACA TATATATATAGATGTATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELP4_chr11_31504767_31795324	31560684	A A	ATTGTTTT others(45): Show ATTGTTTTATATATATATAAAACAACGTTGTTTTATATATATATAAAACA ACG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp2 HG02280.hp1 others(5): Show HG01261.hp2 HG01361.hp2 HG02280.hp1 HG03209.hp1 NA18522.hp2 NA18971.hp2 NA18987.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0038	a0001c0001t0002g0221 a0001c0001t0003g0190 a0001c0001t0003g0213 others(5): Show a0001c0001t0002g0221 a0001c0001t0003g0190 a0001c0001t0003g0213 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0007g0054 a0001c0001t0017g0007 a0001c0001t0038g0053	8	270	0.0296	52	c.381 others(71): Show c.381+20952_381+20953insGTTGTTTTATATATATATAAAACAAC GTTGTTTTATATATATATAAAACAAC	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
EMCN_chr4_100390341_100523022	100448822	T T	TCCTTCCT others(45): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCC CTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	262	0.0038	52	c.377 others(69): Show c.377-1252_377-1251insGAGGGAGGGAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EML1_chr14_99788413_99947060	99811139	A A	ACAGTGAT others(45): Show ACAGTGATCCACCCACGTCGGCCTCCCAAAGTTCTGGGATTACAGGTTCG AGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp2 HG01074.hp1 HG00140.hp2 HG01071.hp2 HG01074.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0003 a0002c0001t0002 a0001c0003t0003 a0002c0001t0002	a0001c0003t0003g0277 a0001c0003t0003g0279 a0002c0001t0002g0278 a0001c0003t0003g0277 a0001c0003t0003g0279 a0002c0001t0002g0278	3	288	0.0104	52	c.67+ others(69): Show c.67+17600_67+17601insGATCCACCCACGTCGGCCTCCCAAAGTT CTGGGATTACAGGTTCGAGCCAGT	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(45): Show CATATATATATACATATATATATATATACATATATACACATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02083.hp1 HG03831.hp2 others(1): Show HG01261.hp1 HG02083.hp1 HG03831.hp2 HG04228.hp1	a0002 a0002	a0002c0001 a0002c0012 a0002c0001 a0002c0012	a0002c0001t0002 a0002c0012t0002 a0002c0001t0002 a0002c0012t0002	a0002c0001t0002g0108 a0002c0001t0002g0109 a0002c0001t0002g0110 others(1): Show a0002c0001t0002g0108 a0002c0001t0002g0109 a0002c0001t0002g0110 a0002c0012t0002g0107	4	430	0.0093	52	c.253 others(67): Show c.253+739_253+740insACATATATATATATATACATATATACACAT ATATATATATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(45): Show CATATATATATATATACATATATACACATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0184 a0002c0001t0001g0184	1	430	0.0023	52	c.253 others(67): Show c.253+739_253+740insATATACATATATACACATATATATATATAT ATATATATATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTPD8_chr9_137429364_137446357	137436339	G G	GGCCGGAT others(45): Show GGCCGGATGACCCACGCCAGCCCCGCGCCCATACCCTGTGCGCCCTCCCC GGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19240.hp2 HG03453.hp2 NA19240.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0006 a0006c0009t0006	a0006c0009t0006g0026 a0006c0009t0006g0026	2	392	0.0051	52	c.787 others(66): Show c.787-115_787-64dupACCGGGGAGGGCGCACAGGGTATGGGCGCGG GGCTGGCGTGGGTCATCCGGC	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	6/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137436380	G G	GCCCTCCC others(45): Show GCCCTCCCCGGGGCCGGATGACCCACGCCAGCCCCGCACCCATACCCTGT GCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp1 HG02723.hp2 HG01123.hp1 HG02109.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	3	392	0.0077	52	c.787 others(67): Show c.787-105_787-104insGGCACAGGGTATGGGTGCGGGGCTGGCGTG GGTCATCCGGCCCCGGGGAGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	6/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137436391	T T	TGCCGGAT others(45): Show TGCCGGATGACCCACGCCAGCCCCGCGCCCATACCCTGTGCCCCCTCCCC GGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02970.hp2 HG03471.hp2 HG02559.hp1 HG02970.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0044 a0001c0001t0007g0141 a0001c0001t0001g0044 a0001c0001t0007g0141	3	392	0.0077	52	c.786 others(66): Show c.786+78_787-116dupCCCGGGGAGGGGGCACAGGGTATGGGCGCGG GGCTGGCGTGGGTCATCCGGC	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	6/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137436417	G G	GCCCATAC others(45): Show GCCCATACCCTGTGCCCCCTCCCCGGTGCCGGATGACCCACGCCAGCCCC GCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02897.hp2 others(5): Show HG02630.hp2 HG02647.hp1 HG02897.hp2 HG03195.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0022 a0001c0001 a0001c0007 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0003 a0001c0022t0001	a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0002g0155 others(4): Show a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0002g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0007t0003g0043 a0001c0022t0001g0159	8	392	0.0204	52	c.786 others(67): Show c.786+103_786+104insTGCGGGGCTGGCGTGGGTCATCCGGCACCG GGGAGGGGGCACAGGGTATGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	6/9			chr9	TogoVar
ENTPD8_chr9_137429364_137446357	137440340	C C	CCCCCCAG others(45): Show CCCCCCAGACCAGGACACCCCCTCACACAGAACAGATTCCCAGACCAGGA CAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	392	0.0051	52	c.-21 others(67): Show c.-21+894_-21+945dupCTGTCCTGGTCTGGGAATCTGTTCTGTGTG AGGGGGTGTCCTGGTCTGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
EP300_chr22_41087592_41185077	41174953	C C	CAAGCAGA others(45): Show CAAGCAGACATAAACCAACACATACACACGCAGCCAAAGTCATACAACCA CCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0171 a0002c0003t0001g0171	1	300	0.0033	52	c.477 others(71): Show c.4779+1169_4779+1170insAAGCAGACATAAACCAACACATACAC ACGCAGCCAAAGTCATACAACCACCT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	29/30			chr22	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAAAAAA others(45): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	228	0.0044	52	c.100 others(69): Show c.100-7016_100-7015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109311747	A A	AGGCTGGG others(45): Show AGGCTGGGTGTGCACAGCATGGGCTGAGGGGAAGAGCACTGGAAAATGAG TCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0135 a0001c0002t0012g0135	1	318	0.0031	52	c.306 others(69): Show c.306+8342_306+8393dupGGACTCATTTTCCAGTGCTCTTCCCCTC AGCCCATGCTGTGCACACCCAGCC	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(45): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03516.hp1 HG01975.hp2 HG03516.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0066 a0002c0006t0002g0156 a0002c0006t0002g0066 a0002c0006t0002g0156	2	200	0.0100	52	c.154 others(69): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(45): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAA AGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0065 a0002c0006t0002g0065	1	200	0.0050	52	c.154 others(69): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGGAAG AAAGAAAGAAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPPK1_chr8_143852324_143883467	143855406	G G	GTATATCT others(45): Show GTATATCTATATATCTATATCTATATATCTATATCTATATATCTATATAT ATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01175.hp1 others(2): Show HG00099.hp1 HG00741.hp1 HG01175.hp1 HG01515.hp1 HG03490.hp1	a0008 a0077 a0087 others(2): Show a0008 a0077 a0087 a0102 a0159	a0008c0092 a0077c0181 a0087c0133 others(2): Show a0008c0092 a0077c0181 a0087c0133 a0102c0134 a0159c0080	a0008c0092t0002 a0077c0181t0007 a0087c0133t0007 others(2): Show a0008c0092t0002 a0077c0181t0007 a0087c0133t0007 a0102c0134t0006 a0159c0080t0002	a0008c0092t0002g0383 a0077c0181t0007g0384 a0087c0133t0007g0368 others(2): Show a0008c0092t0002g0383 a0077c0181t0007g0384 a0087c0133t0007g0368 a0102c0134t0006g0039 a0159c0080t0002g0084	5	424	0.0118	52	c.25 others(63): Show c.2580_*2581insGATATATATAGATATATAGATATAGATATATAGA TATAGATATATAGATATA	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding		1917		chr8	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATACA CAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0047 a0010c0015t0002g0047	1	358	0.0028	52	c.432 others(69): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATATATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
ERBIN_chr5_65921575_66087546	66018473	T T	TTATATAT others(45): Show TTATATATTATATAATATATATTATATAATATAATATATATTATATTATA TTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 NA18522.hp1 HG02572.hp2 HG02717.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046	3	306	0.0098	52	c.534 others(69): Show c.534-2836_534-2835insATATATATTATATAATATAATATATATT ATATTATATTATATATATTATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018473	T T	TTATATTA others(45): Show TTATATTATATAATATATATTATATATTATAATATATAATATATAATATA TAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01069.hp2 others(6): Show HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01081.hp2 HG01257.hp2 HG01981.hp2 HG02148.hp2 HG02257.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 others(6): Show a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0024t0001g0101	9	306	0.0294	52	c.534 others(69): Show c.534-2844_534-2843insTATATAATATATATTATATATTATAATA TATAATATATAATATATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018473	T T	TTATATTA others(45): Show TTATATTATATAATATATATTATATATTATAATATATAATATATATTATA TAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp1 NA19064.hp1 HG01261.hp2 HG02145.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0001t0013 a0001c0023t0001 a0001c0001t0001 a0001c0001t0013 a0001c0023t0001	a0001c0001t0001g0060 a0001c0001t0013g0124 a0001c0023t0001g0117 a0001c0001t0001g0060 a0001c0001t0013g0124 a0001c0023t0001g0117	3	306	0.0098	52	c.534 others(69): Show c.534-2844_534-2843insTATATAATATATATTATATATTATAATA TATAATATATATTATATAATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1121677	A A	ATCTCTAT others(45): Show ATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATATCTCT ATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG01891.hp2 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0048 a0002c0002t0038 a0002c0002t0048	a0002c0002t0038g0082 a0002c0002t0048g0070 a0002c0002t0038g0082 a0002c0002t0048g0070	2	162	0.0124	52	c.156 others(71): Show c.1569+5647_1569+5648insCTATCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCTATATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122133	A A	ATCTCTAT others(45): Show ATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCT GTG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0012 a0001c0001t0077g0012	1	162	0.0062	52	c.156 others(71): Show c.1569+6115_1569+6116insATCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERCC2_chr19_45344837_45375573	45346887	T T	TTCCCCAG others(45): Show TTCCCCAGATTCTCCTTCAGTCCACAGCTCCACTTGACAGTGCAAGTCAC TCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0252 a0001c0002t0002g0252	1	412	0.0024	52	c.47 others(63): Show c.4741_*4742insGGAGTGACTTGCACTGTCAAGTGGAGCTGTGGAC TGAAGGAGAATCTGGGGA	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		2949		chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172908342	G G	GGGGAGGG others(45): Show GGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGGAGGCGGGAGGGGGGAGGG GGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	334	0.0030	52	c.156 others(69): Show c.156-1325_156-1324insGGGAGGGGGGGGGAGAGAGGGGAGGGGG GGGAGGCGGGAGGGGGGAGGGGGA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9			chr5	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(45): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18949.hp1 NA18988.hp1 others(1): Show HG02080.hp2 NA18949.hp1 NA18988.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0237 a0001c0001t0002g0260 others(1): Show a0001c0001t0002g0108 a0001c0001t0002g0237 a0001c0001t0002g0260 a0001c0001t0002g0266	4	442	0.0091	52	c.101 others(71): Show c.1013-1196_1013-1195insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERLIN2_chr8_37731634_37763422	37734478	A A	AGGAAGGA others(45): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAGG GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03486.hp1 HG01884.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	2	224	0.0089	52	c.-22 others(63): Show c.-2216_-2215insGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGG AGGGAGGGAGGGAGGGAG	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding		2155		chr8	TogoVar
ERLIN2_chr8_37731634_37763422	37734478	A A	AGGAAGGA others(45): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	224	0.0045	52	c.-22 others(63): Show c.-2216_-2215insGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAG	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding		2155		chr8	TogoVar
ERO1B_chr1_236210101_236286958	236239801	A A	ATATATAT others(45): Show ATATATATATGTGTGTATATATATATGTGTATATATATGTATATATATAT GTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA21309.hp1 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0081 a0001c0001t0007g0082	2	396	0.0051	52	c.506 others(69): Show c.506-3404_506-3403insCACATATATATATACATATATATACACA TATATATATACACACATATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar

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