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
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	67	0.0149	35	c.58- others(50): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100100957	A A	ATATATAT others(28): Show ATATATATAATATATATTATATATATAATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	217	0.0046	35	c.-21 others(46): Show c.-2152_-2118dupCATATATATTATATATATAATATATATTATATAT A	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1958		chr9	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0327 a0001c0003t0001g0327	1	243	0.0041	35	c.-47 others(46): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94668808	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19081.hp2 HG01934.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0246 a0001c0001t0001g0228 a0001c0001t0001g0246	2	369	0.0054	35	c.123 others(52): Show c.1233+558_1233+559insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTG	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	10/15			chr8	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(28): Show GGGAAGGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp2 NA18986.hp1 others(3): Show HG00738.hp1 HG01106.hp2 NA18986.hp1 NA18986.hp2 NA19004.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0235 a0001c0001t0001g0264 a0001c0001t0003g0194 others(3): Show a0001c0001t0001g0235 a0001c0001t0001g0264 a0001c0001t0003g0194 a0001c0002t0002g0156 a0001c0002t0002g0184 a0001c0002t0002g0198	6	77	0.0779	35	c.590 others(52): Show c.590-1093_590-1092insTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(28): Show GGGAAGGGAAGGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0269 a0001c0003t0004g0270 a0001c0003t0004g0269 a0001c0003t0004g0270	2	73	0.0274	35	c.590 others(52): Show c.590-1093_590-1092insTTTCCTTTCCTTTCCTTTCCTTTCCCTT CCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158803880	G G	GGAGAAGG others(28): Show GGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	140	0.0071	35	c.331 others(52): Show c.331-4809_331-4808insAACGGTTTGGGTTTGTCGCGCGCCTCAC CCTTCTC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158803880	G G	GGAGAAGG others(28): Show GGAGAAGGGTGAGGCGCGCGACAAACCCAAACTGTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(59): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG01074.hp1 HG01099.hp2 HG01243.hp1 HG01891.hp2 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG02886.hp1 HG02970.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18961.hp1 NA18967.hp1 NA18968.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA20300.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0013 others(2): Show a0001c0001 a0002c0002 a0002c0013 a0002c0021 a0007c0026	a0001c0001t0001 a0002c0002t0002 a0002c0002t0036 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0036 a0002c0002t0039 a0002c0002t0041 a0002c0013t0002 a0002c0021t0002 a0007c0026t0002	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 others(58): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0106 a0002c0002t0002g0001 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0054 a0002c0002t0002g0056 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0075 a0002c0002t0002g0078 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0233 a0002c0002t0036g0100 a0002c0002t0039g0104 a0002c0002t0041g0070 a0002c0013t0002g0044 a0002c0013t0002g0087 a0002c0021t0002g0094 a0007c0026t0002g0033	62	201	0.3085	35	c.331 others(52): Show c.331-4809_331-4808insAACAGTTTGGGTTTGTCGCGCGCCTCAC CCTTCTC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804054	T T	TCGAGAAG others(28): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG04115.hp2 HG03579.hp1 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0092 a0002c0002t0002g0075 a0002c0002t0002g0092	2	260	0.0077	35	c.331 others(52): Show c.331-4983_331-4982insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804071	C C	CGCGACAA others(28): Show CGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0093 a0002c0002t0002g0093	1	368	0.0027	35	c.331 others(52): Show c.331-5000_331-4999insTCGCCTCACCCTTCTCGACGGTTTGGGT TTGTCGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804106	C C	CGCGACAA others(28): Show CGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	1	359	0.0028	35	c.331 others(52): Show c.331-5035_331-5034insTCGCCTCACCCTTCTCGACGGTTTGGGT TTGTCGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804159	T T	TTGAGAAA others(28): Show TTGAGAAAAGTGAGGCACGTGACAAACCCAAACTGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0015 a0001c0014t0015	a0001c0014t0015g0003 a0001c0014t0015g0003	2	178	0.0112	35	c.331 others(52): Show c.331-5088_331-5087insGCAGTTTGGGTTTGTCACGTGCCTCACT TTTCTCA	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804175	G G	GAGTGACA others(28): Show GAGTGACAAACCCAAACCGTTGAGAAAAGTGAGGCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(23): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 NA18612.hp1 NA18944.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp1 NA18988.hp1 NA18989.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19056.hp1 NA19058.hp1 NA19074.hp2 NA19079.hp1 NA19087.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0020 a0002c0004 a0002c0009 a0002c0020	a0002c0004t0001 a0002c0004t0003 a0002c0004t0038 others(2): Show a0002c0004t0001 a0002c0004t0003 a0002c0004t0038 a0002c0009t0003 a0002c0020t0003	a0002c0004t0001g0157 a0002c0004t0001g0163 a0002c0004t0001g0166 others(23): Show a0002c0004t0001g0157 a0002c0004t0001g0163 a0002c0004t0001g0166 a0002c0004t0001g0169 a0002c0004t0003g0147 a0002c0004t0003g0148 a0002c0004t0003g0149 a0002c0004t0003g0150 a0002c0004t0003g0152 a0002c0004t0003g0153 a0002c0004t0003g0154 a0002c0004t0003g0155 a0002c0004t0003g0156 a0002c0004t0003g0158 a0002c0004t0003g0160 a0002c0004t0003g0164 a0002c0004t0003g0165 a0002c0004t0003g0167 a0002c0004t0003g0168 a0002c0004t0003g0172 a0002c0004t0038g0159 a0002c0009t0003g0161 a0002c0009t0003g0162 a0002c0009t0003g0170 a0002c0009t0003g0171 a0002c0020t0003g0151	26	368	0.0707	35	c.331 others(52): Show c.331-5104_331-5103insTGCCTCACTTTTCTCAACGGTTTGGGTT TGTCACT	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	226	0.0044	35	c.732 others(50): Show c.732+538_732+539insATATATATATATATATATATATATATATTT TTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	226	0.0044	35	c.732 others(50): Show c.732+538_732+539insATATATATATATATATATATATATATATAT TTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02132.hp1 HG02135.hp1 others(7): Show HG00544.hp1 HG02132.hp1 HG02135.hp1 HG03654.hp2 HG03927.hp1 HG03942.hp2 NA18952.hp1 NA18970.hp1 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0002 a0001c0001t0002g0117 a0001c0001t0002g0129 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0117 a0001c0001t0002g0129 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0223 a0001c0001t0008g0174	10	20	0.5000	35	c.-54 others(44): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(28): Show GATATATATATTTTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0270 a0002c0002t0002g0270	1	250	0.0040	35	c.701 others(50): Show c.701+321_701+322insATATATATATATATATATATATAAAATATA TATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128548112	G G	GAAGGAAA others(28): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02055.hp1 HG02071.hp2 others(22): Show HG00558.hp2 HG02055.hp1 HG02071.hp2 HG02083.hp1 HG02155.hp1 HG02647.hp1 HG03486.hp1 HG04204.hp1 NA18942.hp1 NA18950.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18972.hp1 NA18990.hp1 NA19000.hp2 NA19011.hp2 NA19075.hp2 NA19076.hp2 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0017 a0001c0001t0032 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0036 a0001c0005t0006	a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0087 others(22): Show a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0250 a0001c0001t0002g0156 a0001c0001t0002g0175 a0001c0001t0003g0013 a0001c0001t0014g0023 a0001c0001t0017g0030 a0001c0001t0032g0054 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0094 a0001c0002t0002g0090 a0001c0002t0002g0112 a0001c0002t0002g0149 a0001c0002t0003g0014 a0001c0002t0003g0114 a0001c0002t0004g0073 a0001c0002t0036g0118 a0001c0005t0006g0120	25	85	0.2941	35	c.214 others(52): Show c.214+8178_214+8179insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128548132	A A	AAAGGAAA others(28): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03710.hp1 NA18997.hp1 HG02258.hp2 HG03710.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0025 a0001c0001t0001g0234 a0001c0001t0025g0228 a0001c0001t0001g0025 a0001c0001t0001g0234 a0001c0001t0025g0228	3	77	0.0390	35	c.214 others(52): Show c.214+8158_214+8159insCCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128548132	A A	AAAGGGAA others(28): Show AAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG01123.hp1 others(11): Show HG00408.hp1 HG00673.hp1 HG01123.hp1 HG01256.hp1 HG01261.hp2 HG01943.hp2 HG01993.hp1 HG03453.hp1 HG03710.hp2 NA18942.hp2 NA18947.hp1 NA19012.hp2 NA19083.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0011	a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0263 others(11): Show a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0003g0283 a0001c0001t0005g0031 a0001c0001t0005g0109 a0001c0001t0005g0243 a0001c0001t0006g0081 a0001c0001t0016g0153 a0001c0002t0001g0074 a0001c0002t0002g0255 a0001c0002t0004g0026 a0001c0002t0004g0229 a0001c0002t0011g0062	14	88	0.1591	35	c.214 others(52): Show c.214+8158_214+8159insCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	3/9			chr11	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTGTT others(28): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	106	0.0094	35	c.-64 others(44): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EXD3_chr9_137301896_137428162	137322447	C C	CCCACGAG others(28): Show CCCACGAGGGATGCTCTGCCGACACCTCACCCCGGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0058 a0004c0004t0001g0058	1	80	0.0125	35	c.218 others(54): Show c.2184+1243_2184+1277dupTCCGGGGTGAGGTGTCGGCAGAGCAT CCCTCGTGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137323573	C C	CTGCCGAC others(28): Show CTGCCGACACCTCACCCCGGACCACGAGGGATGCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(47): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00741.hp1 HG00741.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18951.hp1 NA18951.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19066.hp1 NA19066.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0024 a0025 a0027 a0030	a0001c0001 a0002c0002 a0003c0003 others(18): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0005c0009 a0006c0005 a0006c0018 a0009c0013 a0012c0011 a0014c0025 a0015c0022 a0016c0019 a0017c0015 a0018c0016 a0019c0033 a0021c0027 a0024c0036 a0025c0014 a0027c0017 a0030c0026	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(19): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0007t0001 a0005c0009t0001 a0006c0005t0001 a0006c0018t0001 a0009c0013t0001 a0012c0011t0001 a0014c0025t0001 a0015c0022t0001 a0016c0019t0001 a0017c0015t0001 a0018c0016t0001 a0019c0033t0001 a0021c0027t0001 a0024c0036t0001 a0025c0014t0001 a0027c0017t0001 a0030c0026t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0042 others(47): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0002g0001 a0002c0002t0001g0011 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0056 a0002c0002t0001g0062 a0002c0002t0001g0077 a0002c0002t0001g0078 a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0041 a0003c0003t0001g0068 a0003c0003t0001g0074 a0004c0004t0001g0027 a0005c0007t0001g0002 a0005c0007t0001g0023 a0005c0009t0001g0014 a0005c0009t0001g0065 a0006c0005t0001g0053 a0006c0018t0001g0029 a0009c0013t0001g0039 a0012c0011t0001g0020 a0012c0011t0001g0055 a0014c0025t0001g0072 a0015c0022t0001g0038 a0016c0019t0001g0022 a0017c0015t0001g0073 a0018c0016t0001g0019 a0019c0033t0001g0017 a0021c0027t0001g0064 a0024c0036t0001g0003 a0025c0014t0001g0075 a0027c0017t0001g0007 a0030c0026t0001g0033	50	73	0.6849	35	c.218 others(52): Show c.2184+151_2184+152insAAGCATCCCTCGTGGTCCGGGGTGAGGT GTCGGCA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137348483	C C	CAGAGAGG others(28): Show CAGAGAGGGGTGGGGATCACGGGGAGGGGGCTAGAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03017.hp1 HG01069.hp2 HG03017.hp1	a0008 a0025 a0008 a0025	a0008c0008 a0025c0014 a0008c0008 a0025c0014	a0008c0008t0001 a0025c0014t0001 a0008c0008t0001 a0025c0014t0001	a0008c0008t0001g0013 a0025c0014t0001g0075 a0008c0008t0001g0013 a0025c0014t0001g0075	2	80	0.0250	35	c.183 others(52): Show c.1831-280_1831-246dupATCTAGCCCCCTCCCCGTGATCCCCACC CCTCTCT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	16/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137348511	G G	GGCTAGAT others(28): Show GGCTAGATAGAGAGGGGTGGGGATCACAAGGAAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(56): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00741.hp2 HG01069.hp1 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18951.hp1 NA18951.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19066.hp2	a0001 a0002 a0005 others(16): Show a0001 a0002 a0005 a0006 a0009 a0010 a0011 a0014 a0015 a0016 a0017 a0021 a0022 a0023 a0024 a0026 a0027 a0029 a0030	a0001c0001 a0001c0031 a0002c0002 others(21): Show a0001c0001 a0001c0031 a0002c0002 a0005c0007 a0005c0009 a0005c0021 a0006c0005 a0006c0018 a0009c0013 a0009c0020 a0010c0006 a0011c0012 a0014c0025 a0015c0022 a0016c0019 a0017c0015 a0021c0027 a0022c0030 a0023c0024 a0024c0036 a0026c0035 a0027c0017 a0029c0029 a0030c0026	a0001c0001t0001 a0001c0001t0002 a0001c0031t0001 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0031t0001 a0002c0002t0001 a0005c0007t0001 a0005c0009t0001 a0005c0021t0001 a0006c0005t0001 a0006c0018t0001 a0009c0013t0001 a0009c0020t0001 a0010c0006t0001 a0011c0012t0001 a0014c0025t0001 a0015c0022t0001 a0016c0019t0001 a0017c0015t0001 a0021c0027t0001 a0022c0030t0001 a0023c0024t0001 a0024c0036t0001 a0026c0035t0001 a0027c0017t0001 a0029c0029t0001 a0030c0026t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 others(56): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0002g0001 a0001c0031t0001g0076 a0002c0002t0001g0011 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0056 a0002c0002t0001g0062 a0002c0002t0001g0077 a0002c0002t0001g0078 a0005c0007t0001g0002 a0005c0007t0001g0023 a0005c0009t0001g0014 a0005c0009t0001g0065 a0005c0021t0001g0070 a0006c0005t0001g0018 a0006c0005t0001g0053 a0006c0005t0001g0066 a0006c0018t0001g0029 a0009c0013t0001g0039 a0009c0020t0001g0005 a0010c0006t0001g0008 a0010c0006t0001g0047 a0011c0012t0001g0006 a0011c0012t0001g0046 a0014c0025t0001g0072 a0015c0022t0001g0038 a0016c0019t0001g0022 a0017c0015t0001g0073 a0021c0027t0001g0064 a0022c0030t0001g0015 a0023c0024t0001g0049 a0024c0036t0001g0003 a0026c0035t0001g0040 a0027c0017t0001g0007 a0029c0029t0001g0024 a0030c0026t0001g0033	59	70	0.8429	35	c.183 others(52): Show c.1831-274_1831-273insACCTTCCTTGTGATCCCCACCCCTCTCT ATCTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	16/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137350192	T T	TGCTAGAT others(28): Show TGCTAGATAGAGAGGGGTGGGGATTACGAGGAGAGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03139.hp2 HG03688.hp1 HG02165.hp2 HG03139.hp2 HG03688.hp1	a0005 a0006 a0021 a0005 a0006 a0021	a0005c0021 a0006c0018 a0021c0027 a0005c0021 a0006c0018 a0021c0027	a0005c0021t0001 a0006c0018t0001 a0021c0027t0001 a0005c0021t0001 a0006c0018t0001 a0021c0027t0001	a0005c0021t0001g0070 a0006c0018t0001g0029 a0021c0027t0001g0064 a0005c0021t0001g0070 a0006c0018t0001g0029 a0021c0027t0001g0064	3	75	0.0400	35	c.149 others(52): Show c.1495-662_1495-661insTCTCTCCTCGTAATCCCCACCCCTCTCT ATCTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137350192	T T	TGCTAGAT others(28): Show TGCTAGATAGAGAGGGGTGGGGATTACGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02004.hp2 HG00099.hp2 HG02004.hp2	a0003 a0020 a0003 a0020	a0003c0003 a0020c0032 a0003c0003 a0020c0032	a0003c0003t0001 a0020c0032t0001 a0003c0003t0001 a0020c0032t0001	a0003c0003t0001g0025 a0020c0032t0001g0054 a0003c0003t0001g0025 a0020c0032t0001g0054	2	74	0.0270	35	c.149 others(52): Show c.1495-662_1495-661insTCTCTCCCCGTAATCCCCACCCCTCTCT ATCTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137350437	T T	TCTAGATA others(28): Show TCTAGATAGAGAGGGGTGGGGATCACAAGGAGGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0029 a0006c0018t0001g0029	1	76	0.0132	35	c.149 others(52): Show c.1494+600_1494+601insCCCCCTCCTTGTGATCCCCACCCCTCTC TATCTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501492	T T	TATCTATA others(28): Show TATCTATATATATTATATATATATTATATATATCTA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18946.hp2 HG01261.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0110 a0001c0001t0003g0042 a0001c0001t0001g0110 a0001c0001t0003g0042	2	154	0.0130	35	c.238 others(54): Show c.2381-1793_2381-1792insTAGATATATATAATATATATATAATA TATATAGAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133558189	C C	CTCTTTTC others(28): Show CTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0065 a0001c0002t0006g0065	1	40	0.0250	35	c.141 others(56): Show c.1418-71825_1418-71824insTTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72397625	A A	AAAAAAAA others(28): Show AAAAAAAAAAATAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03579.hp2 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0038 a0001c0001t0011g0037 a0001c0001t0003g0038 a0001c0001t0011g0037	2	70	0.0286	35	c.198 others(56): Show c.1981-17756_1981-17755insATTTTATTTTATTTTATTTTATTT ATTTTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOSC5_chr19_41381374_41402359	41389212	C C	CTGGCATT others(28): Show CTGGCATTACAGGTGTGAGCCACCACACCTGGCCAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	394	0.0025	35	c.525 others(50): Show c.525+518_525+552dupATGGCCAGGTGTGGTGGCTCACACCTGTAA TGCCA	EXOSC5	ENSG00000077348.10	transcript	ENST00000221233.9	protein_coding	4/5			chr19	TogoVar
EXT1_chr8_117789490_118116826	117973886	G G	GAAAGGAA others(28): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp1 NA18941.hp2 HG02622.hp2 HG03195.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0016 a0001c0004t0012 a0001c0001t0004 a0001c0001t0016 a0001c0004t0012	a0001c0001t0004g0025 a0001c0001t0016g0044 a0001c0004t0012g0171 a0001c0001t0004g0025 a0001c0001t0016g0044 a0001c0004t0012g0171	3	55	0.0545	35	c.962 others(56): Show c.962+136198_962+136199insTCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118073632	A A	AAGAAGAG others(28): Show AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	77	0.0130	35	c.962 others(54): Show c.962+36418_962+36452dupCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19081.hp1 NA19082.hp1 NA18981.hp2 NA19081.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0300 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0300	3	100	0.0300	35	c.-68 others(54): Show c.-68-15034_-68-15033insAAAAATATATATATATATATATATAT ATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYA3_chr1_27965344_28093610	28073127	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18968.hp1 NA19011.hp2 others(1): Show HG03239.hp2 NA18968.hp1 NA19011.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0219 a0001c0001t0003g0040 a0001c0001t0003g0066 others(1): Show a0001c0001t0001g0219 a0001c0001t0003g0040 a0001c0001t0003g0066 a0001c0001t0003g0083	4	101	0.0396	35	c.-68 others(54): Show c.-68-15034_-68-15033insAAAAAAATATATATATATATATATAT ATATATATA	EYA3	ENSG00000158161.16	transcript	ENST00000373871.8	protein_coding	1/17			chr1	TogoVar
EYS_chr6_63714980_65712226	65278031	C C	CCTTTTCT others(28): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG03195.hp1 HG02630.hp2 HG02886.hp1 HG03195.hp1	a0003 a0010 a0018 a0003 a0010 a0018	a0003c0021 a0010c0015 a0018c0018 a0003c0021 a0010c0015 a0018c0018	a0003c0021t0001 a0010c0015t0002 a0018c0018t0001 a0003c0021t0001 a0010c0015t0002 a0018c0018t0001	a0003c0021t0001g0008 a0010c0015t0002g0023 a0018c0018t0001g0007 a0003c0021t0001g0008 a0010c0015t0002g0023 a0018c0018t0001g0007	3	5	0.6000	35	c.202 others(56): Show c.2023+17831_2023+17832insAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65519708	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0008 a0003c0021t0001g0008	1	8	0.1250	35	c.-33 others(56): Show c.-332-23716_-332-23715insAAAAAAAAATATATATATATATAT ATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65519708	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0020 a0003c0008t0002g0020	1	8	0.1250	35	c.-33 others(56): Show c.-332-23716_-332-23715insAAAAAAAAAAATATATATATATAT ATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 NA21309.hp1 HG02486.hp1 HG02647.hp1 NA21309.hp1	a0009 a0017 a0009 a0017	a0009c0016 a0009c0030 a0017c0037 a0009c0016 a0009c0030 a0017c0037	a0009c0016t0003 a0009c0030t0001 a0017c0037t0004 a0009c0016t0003 a0009c0030t0001 a0017c0037t0004	a0009c0016t0003g0048 a0009c0030t0001g0069 a0017c0037t0004g0051 a0009c0016t0003g0048 a0009c0030t0001g0069 a0017c0037t0004g0051	3	13	0.2308	35	c.952 others(50): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105038	A A	AATTATAT others(28): Show AATTATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0062 a0001c0001t0012g0062	1	367	0.0027	35	c.-80 others(44): Show c.-804_-803insATTATATATATATATATATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
F7_chr13_113100791_113125685	113107513	G G	GCGAGGGT others(28): Show GCGAGGGTGTCCCGGGGGTGTGGGTGTCCCAGGGGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03195.hp1 NA19063.hp1 HG00544.hp2 HG03195.hp1 NA19063.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0001c0001t0004 a0006c0011t0001 a0001c0001t0001 a0001c0001t0004 a0006c0011t0001	a0001c0001t0001g0107 a0001c0001t0004g0108 a0006c0011t0001g0092 a0001c0001t0001g0107 a0001c0001t0004g0108 a0006c0011t0001g0092	3	386	0.0078	35	c.64+ others(50): Show c.64+1608_64+1609insCGAGGGTGTCCCGGGGGTGTGGGTGTCCCA GGGGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7			chr13	TogoVar
F7_chr13_113100791_113125685	113107513	G G	GCGAGGGT others(28): Show GCGAGGGTTGTCCCGGGGGTGTGGGTGTCCAGGGGT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	384	0.0026	35	c.64+ others(50): Show c.64+1608_64+1609insCGAGGGTTGTCCCGGGGGTGTGGGTGTCCA GGGGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7			chr13	TogoVar
F7_chr13_113100791_113125685	113107522	T T	TCCCGGGG others(28): Show TCCCGGGGTGTGGGTGTCCCAGGGGTCGTGGGTGTC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	398	0.0025	35	c.64+ others(50): Show c.64+1623_64+1624insGTGTGGGTGTCCCAGGGGTCGTGGGTGTCC CCGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113107655	G G	GTGTCCGG others(28): Show GTGTCCGGGGAGTGTGGGTGTTCCGGAGGCGAGGGT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	398	0.0025	35	c.64+ others(50): Show c.64+1755_64+1756insGGGGAGTGTGGGTGTTCCGGAGGCGAGGGT TGTCC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
FAAP100_chr17_81534891_81557353	81535835	C C	CCCCATCC others(28): Show CCCCATCCCCATCTCCATCACCATCCCCCTCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	434	0.0023	35	c.49 others(46): Show c.4949_*4983dupATGGAGAGGGGGATGGTGATGGAGATGGGGATGG G	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding		4055		chr17	TogoVar
FABP1_chr2_88117982_88133062	88122389	A A	AACATATA others(28): Show AACATATAAATTTTGGGGGAATGCAACTCAACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	466	0.0021	35	c.66 others(44): Show c.664_*665insAGGGGTTGAGTTGCATTCCCCCAAAATTTATATGT	FABP1	ENSG00000163586.10	transcript	ENST00000295834.8	protein_coding		592		chr2	TogoVar
FADS2_chr11_61823300_61872354	61861353	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	109	0.0092	35	c.883 others(52): Show c.883-1601_883-1600insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	FADS2	ENSG00000134824.14	transcript	ENST00000278840.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAF2_chr5_176443385_176515074	176455853	C C	CTTTATGT others(28): Show CTTTATGTTAAAATGAAATATTTACATAAATATTCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp1 NA18522.hp2 HG02965.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025	3	370	0.0081	35	c.63+ others(50): Show c.63+7391_63+7425dupTAAAATGAAATATTTACATAAATATTCATT TATGT	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM104A_chr17_73202365_73237394	73224945	C C	CACAGGAT others(28): Show CACAGGATAGGACAGGACAGCACAGCACAGGACAGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	398	0.0025	35	c.321 others(52): Show c.321+2219_321+2220insCCTGTCCTGTGCTGTGCTGTCCTGTCCT ATCCTGT	FAM104A	ENSG00000133193.13	transcript	ENST00000405159.8	protein_coding	2/3			chr17	TogoVar

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