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
ELOA_chr1_23738471_23767059	23758251	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	305	0.0033	30	c.225 others(49): Show c.2257+1129_2257+1130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOVL2_chr6_10975759_11049305	10978306	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	1	223	0.0045	30	c.54 others(41): Show c.5474_*5475insTTATATATATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2452		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp1 HG01952.hp2 others(10): Show HG00323.hp1 HG01358.hp1 HG01952.hp2 HG01993.hp2 HG02148.hp2 HG02735.hp1 HG03654.hp1 HG03654.hp2 NA18612.hp1 NA18980.hp1 NA19070.hp2 NA19074.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0059 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0007g0077 a0001c0001t0007g0089 a0001c0001t0007g0108 a0001c0001t0007g0111 a0001c0001t0013g0094 a0001c0001t0014g0079	13	243	0.0535	30	c.3+7 others(41): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084419	T T	TATATCAC others(23): Show TATATCACATATATCATATATGATATATCGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	336	0.0030	30	c.221 others(49): Show c.221+21048_221+21077dupGCGATATATCATATATGATATATGTG ATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084424	C C	CGCATATA others(23): Show CGCATATATCATATATGATATATCGCATATA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0214 a0001c0001t0061g0214	1	336	0.0030	30	c.221 others(49): Show c.221+21072_221+21073insTATATGCGATATATCATATATGATAT ATGC	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(23): Show ACATATATCATATATGATATATCACATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01070.hp2 others(22): Show HG00438.hp2 HG00544.hp2 HG01070.hp2 HG01346.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp1 NA18945.hp1 NA18964.hp2 NA18970.hp1 NA18984.hp2 NA18985.hp1 NA19000.hp2 NA19002.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0047 a0001c0001t0048 a0001c0001t0068	a0001c0001t0001g0203 a0001c0001t0003g0050 a0001c0001t0003g0051 others(22): Show a0001c0001t0001g0203 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0173 a0001c0001t0003g0200 a0001c0001t0003g0221 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0310 a0001c0001t0003g0313 a0001c0001t0003g0315 a0001c0001t0009g0172 a0001c0001t0009g0174 a0001c0001t0009g0269 a0001c0001t0009g0311 a0001c0001t0009g0322 a0001c0001t0012g0083 a0001c0001t0047g0081 a0001c0001t0048g0095 a0001c0001t0068g0075	25	264	0.0947	30	c.221 others(49): Show c.221+21071_221+21072insATATATGTGATATATCATATATGATA TATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(23): Show ACATATATCATATATGATATATCGCATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(59): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02083.hp1 HG02148.hp2 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG03492.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 NA18943.hp1 NA18946.hp1 NA18955.hp1 NA18981.hp1 NA18982.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19002.hp2 NA19058.hp2 NA19085.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0031 a0001c0001t0035 a0001c0001t0046 a0001c0001t0057 a0001c0001t0060 a0001c0001t0062 a0001c0001t0064	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(59): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0327 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0002g0139 a0001c0001t0002g0332 a0001c0001t0003g0177 a0001c0001t0004g0062 a0001c0001t0004g0205 a0001c0001t0004g0215 a0001c0001t0004g0225 a0001c0001t0004g0262 a0001c0001t0004g0323 a0001c0001t0005g0204 a0001c0001t0005g0325 a0001c0001t0011g0170 a0001c0001t0011g0171 a0001c0001t0012g0133 a0001c0001t0012g0136 a0001c0001t0012g0181 a0001c0001t0012g0223 a0001c0001t0023g0185 a0001c0001t0023g0186 a0001c0001t0031g0163 a0001c0001t0031g0190 a0001c0001t0035g0001 a0001c0001t0046g0333 a0001c0001t0057g0320 a0001c0001t0060g0336 a0001c0001t0062g0253 a0001c0001t0064g0054	62	301	0.2060	30	c.221 others(49): Show c.221+21042_221+21071dupATATATGCGATATATCATATATGATA TATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084426	C C	CATATATC others(23): Show CATATATCATATATGATATATCACATATATG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp2 others(100): Show HG00558.hp2 HG00597.hp1 HG00735.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03942.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA18992.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0033 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075	a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(100): Show a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0176 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0289 a0001c0001t0002g0033 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0141 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0187 a0001c0001t0002g0238 a0001c0001t0002g0244 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0316 a0001c0001t0003g0193 a0001c0001t0003g0198 a0001c0001t0003g0294 a0001c0001t0004g0143 a0001c0001t0004g0321 a0001c0001t0005g0194 a0001c0001t0006g0013 a0001c0001t0006g0046 a0001c0001t0006g0053 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0006g0157 a0001c0001t0006g0159 a0001c0001t0006g0183 a0001c0001t0006g0250 a0001c0001t0006g0293 a0001c0001t0008g0158 a0001c0001t0010g0045 a0001c0001t0010g0047 a0001c0001t0010g0151 a0001c0001t0010g0152 a0001c0001t0014g0014 a0001c0001t0014g0025 a0001c0001t0014g0111 a0001c0001t0014g0150 a0001c0001t0015g0227 a0001c0001t0016g0098 a0001c0001t0016g0112 a0001c0001t0016g0114 a0001c0001t0016g0164 a0001c0001t0017g0040 a0001c0001t0017g0041 a0001c0001t0017g0042 a0001c0001t0018g0123 a0001c0001t0018g0229 a0001c0001t0018g0328 a0001c0001t0021g0018 a0001c0001t0021g0069 a0001c0001t0021g0107 a0001c0001t0022g0017 a0001c0001t0027g0254 a0001c0001t0033g0026 a0001c0001t0033g0043 a0001c0001t0036g0002 a0001c0001t0042g0038 a0001c0001t0043g0100 a0001c0001t0044g0199 a0001c0001t0049g0039 a0001c0001t0050g0142 a0001c0001t0051g0191 a0001c0001t0052g0235 a0001c0001t0053g0282 a0001c0001t0054g0064 a0001c0001t0055g0300 a0001c0001t0056g0109 a0001c0001t0058g0024 a0001c0001t0059g0116 a0001c0001t0067g0218 a0001c0001t0069g0252 a0001c0001t0070g0126 a0001c0001t0071g0015 a0001c0001t0072g0074 a0001c0001t0073g0080 a0001c0001t0075g0099	103	323	0.3189	30	c.221 others(49): Show c.221+21070_221+21071insCATATATGTGATATATCATATATGAT ATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084563	G G	GATATATA others(23): Show GATATATATTTATATTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	211	0.0047	30	c.221 others(49): Show c.221+20933_221+20934insATATATATATATATAAATATAAATAT ATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0047 a0001c0001t0010g0047	1	55	0.0182	30	c.90- others(47): Show c.90-12276_90-12275insATATATATATATATATATATATTTTTTT TT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELSPBP1_chr19_47989632_48030154	48025655	A A	ACCTCCTT others(23): Show ACCTCCTTCTCCTCCTCCCTCTCCTTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01358.hp2 HG02055.hp1 others(23): Show HG01106.hp1 HG01358.hp2 HG02055.hp1 HG02165.hp1 HG02486.hp2 HG02572.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03471.hp1 HG03490.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18952.hp1 NA18954.hp1 NA18978.hp2 NA18979.hp1 NA18988.hp2 NA19000.hp2 NA19012.hp1 NA19074.hp2 NA19084.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0004c0004t0002	a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0263 others(23): Show a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0263 a0002c0002t0001g0100 a0002c0002t0001g0119 a0002c0002t0001g0329 a0004c0004t0001g0032 a0004c0004t0001g0037 a0004c0004t0001g0040 a0004c0004t0001g0042 a0004c0004t0001g0046 a0004c0004t0001g0059 a0004c0004t0001g0078 a0004c0004t0001g0095 a0004c0004t0001g0096 a0004c0004t0001g0270 a0004c0004t0001g0305 a0004c0004t0001g0319 a0004c0004t0001g0370 a0004c0004t0001g0374 a0004c0004t0001g0375 a0004c0004t0002g0035 a0004c0004t0002g0131 a0004c0004t0002g0185 a0004c0004t0002g0223 a0004c0004t0002g0235	26	386	0.0674	30	c.71 others(39): Show c.711_*712insCCTCCTTCTCCTCCTCCCTCTCCTTCTCCT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		502		chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	222	0.0045	30	c.35 others(41): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(23): Show CACACACACACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	162	0.0062	30	c.356 others(47): Show c.356+2088_356+2089insATATATATGTGTGTGTGTGTGTGTGTGT GT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMILIN2_chr18_2842006_2921003	2858549	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0134 a0001c0002t0006g0134	1	449	0.0022	30	c.257 others(49): Show c.257+10639_257+10640insATATATGTGTATATATATATATATAT ATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGGTGGT others(23): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0092 a0001c0004t0001g0092	1	230	0.0043	30	c.190 others(49): Show c.1909+7151_1909+7152insATGGTGGTGATGGTGGTGGTGGTGGT GGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928029	G G	GTGGTGGT others(23): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0192 a0003c0002t0001g0192	1	205	0.0049	30	c.190 others(49): Show c.1909+7160_1909+7161insATGGTGGTGGTGGTGGTGGTGATGGT GGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02723.hp1 HG03209.hp2 others(2): Show HG00323.hp1 HG02723.hp1 HG03209.hp2 NA19082.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0005t0014 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0005t0014 a0003c0003t0004	a0001c0001t0002g0215 a0001c0001t0002g0273 a0001c0001t0005g0308 others(2): Show a0001c0001t0002g0215 a0001c0001t0002g0273 a0001c0001t0005g0308 a0001c0005t0014g0347 a0003c0003t0004g0286	5	51	0.0980	30	c.26- others(43): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18994.hp2 NA18995.hp1 others(1): Show NA18987.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0003c0003t0004 a0001c0001t0002 a0003c0003t0002 a0003c0003t0004	a0001c0001t0002g0302 a0003c0003t0002g0224 a0003c0003t0004g0247 others(1): Show a0001c0001t0002g0302 a0003c0003t0002g0224 a0003c0003t0004g0247 a0003c0003t0004g0270	4	28	0.1429	30	c.224 others(45): Show c.2242+56_2242+85dupATATATATATATATATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCATTCT others(23): Show TTCATTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0153 a0001c0003t0002g0153	1	151	0.0066	30	c.525 others(47): Show c.525+3390_525+3391insATTCTCTCTCTCTCTCTCTCTCTCTCTC TC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01952.hp2 HG01975.hp1 others(2): Show HG00642.hp1 HG01952.hp2 HG01975.hp1 HG02723.hp1 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0008 a0001c0002 a0001c0003 a0002c0008	a0001c0002t0004 a0001c0003t0002 a0002c0008t0012 a0001c0002t0004 a0001c0003t0002 a0002c0008t0012	a0001c0002t0004g0067 a0001c0003t0002g0154 a0001c0003t0002g0155 others(2): Show a0001c0002t0004g0067 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0002c0008t0012g0058	5	155	0.0323	30	c.525 others(47): Show c.525+3415_525+3416insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02300.hp1 HG02698.hp2 others(1): Show HG01978.hp1 HG02300.hp1 HG02698.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0009 a0001c0004t0003 a0001c0001t0001 a0001c0003t0009 a0001c0004t0003	a0001c0001t0001g0147 a0001c0003t0009g0097 a0001c0003t0009g0132 others(1): Show a0001c0001t0001g0147 a0001c0003t0009g0097 a0001c0003t0009g0132 a0001c0004t0003g0130	4	97	0.0412	30	c.243 others(49): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0084 a0001c0005t0017g0084	1	222	0.0045	30	c.243 others(49): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(23): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01516.hp2 HG02572.hp1 others(1): Show HG01433.hp2 HG01516.hp2 HG02572.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 others(1): Show a0001c0002 a0001c0005 a0001c0006 a0001c0036	a0001c0002t0020 a0001c0005t0006 a0001c0006t0025 others(1): Show a0001c0002t0020 a0001c0005t0006 a0001c0006t0025 a0001c0036t0006	a0001c0002t0020g0164 a0001c0005t0006g0086 a0001c0006t0025g0212 others(1): Show a0001c0002t0020g0164 a0001c0005t0006g0086 a0001c0006t0025g0212 a0001c0036t0006g0007	4	25	0.1600	30	c.496 others(47): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0057 a0001c0001t0013g0057	1	3	0.3333	30	c.-61 others(47): Show c.-61+5282_-61+5311dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
ENAH_chr1_225481829_225658123	225561619	T T	TTAAAATA others(23): Show TTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01496.hp2 HG01517.hp1 others(7): Show HG01258.hp2 HG01496.hp2 HG01517.hp1 HG02083.hp2 HG02135.hp1 HG02280.hp1 HG03579.hp2 HG03927.hp1 NA18983.hp2 NA19003.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0071 a0003c0004t0008 a0004c0005t0031	a0001c0001t0001g0207 a0001c0001t0001g0231 a0001c0001t0002g0095 others(7): Show a0001c0001t0001g0207 a0001c0001t0001g0231 a0001c0001t0002g0095 a0001c0001t0002g0105 a0001c0001t0002g0203 a0001c0001t0005g0230 a0001c0001t0005g0299 a0001c0001t0071g0226 a0003c0004t0008g0298 a0004c0005t0031g0215	10	41	0.2439	30	c.171 others(47): Show c.171+5600_171+5629dupTTTTATTTTATTTTATTTTATTTTATTT TA	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	2/13			chr1	TogoVar
ENG_chr9_127810016_127859658	127837810	C C	CCATCCAT others(23): Show CCATCCATCCATCCATCCACATCCATCCATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp1 others(17): Show HG00099.hp2 HG00323.hp2 HG00639.hp1 HG01081.hp1 HG01099.hp1 HG01192.hp2 HG01346.hp1 HG01952.hp2 HG01975.hp2 HG02647.hp1 HG02735.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp2 HG03669.hp1 NA18522.hp2 NA19043.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0004c0009 a0004c0015 a0005c0011	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0004c0009t0005 a0004c0015t0005 a0005c0011t0001	a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0154 others(16): Show a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0207 a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0295 a0001c0008t0001g0017 a0004c0009t0005g0054 a0004c0015t0005g0032 a0005c0011t0001g0023	20	285	0.0702	30	c.219 others(47): Show c.219+5283_219+5284insAATGGATGGATGTGGATGGATGGATGGA TG	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	2/14			chr9	TogoVar
ENKUR_chr10_24976985_25021158	24997807	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0245 a0001c0001t0005g0245	1	331	0.0030	30	c.223 others(47): Show c.223+1593_223+1594insTATATATATATATATATATATATATATA TA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	2/5			chr10	TogoVar
ENOX1_chr13_43208130_43791972	43417242	C C	CGGGAGAG others(23): Show CGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0103 a0001c0001t0018g0103	1	68	0.0147	30	c.-74 others(47): Show c.-74-4255_-74-4254insTCTCCCTCTCCCTCTCCCTCTCCCTCTC CC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43541173	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	9	0.1111	30	c.-21 others(51): Show c.-218-57022_-218-57021insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENPP1_chr6_131803020_131900155	131811376	A A	ATATATCT others(23): Show ATATATCTATATCTATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0095 a0001c0001t0020g0095	1	129	0.0078	30	c.240 others(47): Show c.240+3131_240+3160dupCTATATCTATATCTATATCTATATCTAT AT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131641799	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	102	0.0098	30	c.154 others(45): Show c.154+293_154+294insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(23): Show CATATATATATATACACATATATACACATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0122 a0002c0010t0001g0122	1	242	0.0041	30	c.253 others(45): Show c.253+739_253+740insATACACATATATACACATATATATATATAT	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(23): Show CATATATATATATATACATATATACACATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02523.hp1 HG01167.hp1 HG01169.hp1 HG02523.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0002c0001 a0003c0005	a0002c0001t0001 a0003c0005t0001 a0002c0001t0001 a0003c0005t0001	a0002c0001t0001g0138 a0003c0005t0001g0047 a0002c0001t0001g0138 a0003c0005t0001g0047	3	244	0.0123	30	c.253 others(45): Show c.253+739_253+740insATATACATATATACACATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39768987	C C	CACACACT others(23): Show CACACACTAACTTGTGTATATGTACATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	215	0.0047	30	c.833 others(47): Show c.833-3408_833-3379dupATATATGTACATATACACAAGTTAGTGT GT	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	42	0.0238	30	c.58 others(41): Show c.5801_*5802insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding		2037		chr8	TogoVar
ENTPD8_chr9_137429364_137446357	137444829	A A	AGGCACGT others(23): Show AGGCACGTGGATCACCTGAAGTCAGGAGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	390	0.0026	30	c.-35 others(41): Show c.-3565_-3564insGAACTCCTGACTTCAGGTGATCCACGTGCC	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding		3473		chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29402265	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0068 a0001c0001t0001g0047 a0001c0001t0001g0068	2	111	0.0180	30	c.220 others(49): Show c.220-20435_220-20434insGTATATATATATATATATATATATAT ATAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENY2_chr8_109329347_109350954	109349396	G G	GATATATA others(23): Show GATATATATATATAGATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	356	0.0028	30	c.59 others(41): Show c.5915_*5916insATATATATATATAGATATATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3443		chr8	TogoVar
ENY2_chr8_109329347_109350954	109349396	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0043 a0001c0001t0001g0059	2	357	0.0056	30	c.59 others(41): Show c.5915_*5916insATATATATATATATATATATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3443		chr8	TogoVar
ENY2_chr8_109329347_109350954	109349397	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	163	0.0061	30	c.59 others(41): Show c.5916_*5917insTATATATATATATATATATATATATATATA	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3444		chr8	TogoVar
ENY2_chr8_109329347_109350954	109349397	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0025 a0001c0001t0007g0025	1	163	0.0061	30	c.59 others(41): Show c.5916_*5917insTTTATATATATATATATATATATATATATA	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3444		chr8	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	240	0.0042	30	c.57 others(41): Show c.5753_*5754insAAAAAAAAAAAAAAAAAATATATATATATA	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding		4636		chr3	TogoVar
EPAS1_chr2_46292407_46391697	46362980	G G	GGTGGTGG others(23): Show GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0317 a0003c0003t0009g0317	1	324	0.0031	30	c.779 others(47): Show c.779+1919_779+1920insAGTGGTGGTGGTGGTGGTGGTGGTGGTG GT	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(23): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	46	0.0217	30	c.705 others(47): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAAAAAAAAGA AA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	46	0.0217	30	c.705 others(47): Show c.705+1035_705+1064dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	20	0.0500	30	c.-14 others(49): Show c.-14-16439_-14-16438insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	156	0.0064	30	c.-11 others(49): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA CACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	15	0.0667	30	c.100 others(47): Show c.100-7045_100-7016dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109290710	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0303 a0001c0001t0020g0303	1	277	0.0036	30	c.307 others(49): Show c.307-10790_307-10789insATATATATATATATATATATATATAT ATAT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109310738	C C	CCACAAGT others(23): Show CCACAAGTGAATGGGTAGGACCGAGTTAAGA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	316	0.0032	30	c.306 others(47): Show c.306+9373_306+9402dupTCTTAACTCGGTCCTACCCATTCACTTG TG	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar

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