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
EHBP1_chr2_62700713_63051487	62957641	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	54	0.0185	41	c.246 others(60): Show c.2460+2003_2460+2004insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD4_chr15_41890933_41977557	41931060	G G	GGCCGCCG others(34): Show GGCCGCCGCTCCTTTTGATTCCAAAATTCCACCTCTAGGAAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0216 a0001c0002t0036g0216	1	358	0.0028	41	c.512 others(60): Show c.512-11439_512-11438insATTCCTAGAGGTGGAATTTTGGAATC AAAAGGAGCGGCGGC	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	3/5			chr15	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	129	0.0078	41	c.119 others(58): Show c.119-1910_119-1909insATATATATATATATATATATATATTTTT TTTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF4E_chr4_98874276_98934133	98914361	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0076 a0001c0002t0007g0076	1	71	0.0141	41	c.19- others(58): Show c.19-12380_19-12379insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	1/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	21007515	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0101 a0004c0006t0001g0101	1	77	0.0130	41	c.-66 others(58): Show c.-66-4708_-66-4707insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3319799	C C	CCCTGCGG others(34): Show CCCTGCGGGCAACACCACCCCTGCAGGCAGAGCAATACCACA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	248	0.0040	41	c.259 others(60): Show c.259+18217_259+18218insTGTGGTATTGCTCTGCCTGCAGGGGT GGTGTTGCCCGCAGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3319953	C C	CCCTGCGG others(34): Show CCCTGCGGGCAACACCACCCCTGCAGGCAGAGCAATACCACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp1 others(25): Show HG00140.hp1 HG00280.hp1 HG00642.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp1 HG01978.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG03209.hp2 HG03516.hp1 HG03942.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp1 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18995.hp2 NA18999.hp2 NA19005.hp1 NA19012.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0098 others(25): Show a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0213 a0001c0001t0002g0192 a0001c0001t0002g0207 a0001c0001t0003g0015 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0003t0001g0193	28	247	0.1134	41	c.259 others(60): Show c.259+18063_259+18064insTGTGGTATTGCTCTGCCTGCAGGGGT GGTGTTGCCCGCAGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(34): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02976.hp2 NA18961.hp1 HG00738.hp2 HG02976.hp2 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0002c0002t0006 a0001c0001t0001 a0002c0002t0005 a0002c0002t0006	a0001c0001t0001g0001 a0002c0002t0005g0101 a0002c0002t0006g0086 a0001c0001t0001g0001 a0002c0002t0005g0101 a0002c0002t0006g0086	3	223	0.0135	41	c.-46 others(52): Show c.-4604_-4603insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(34): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0030 a0002c0027t0030	a0002c0027t0030g0094 a0002c0027t0030g0094	1	38	0.0263	41	c.154 others(60): Show c.154-17832_154-17831insATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF1_chr13_40926924_41024316	40955799	G G	GCCGCCCC others(34): Show GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(231): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0010 a0011 a0012	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0004c0006 a0005c0007 a0006c0008 a0010c0009 a0011c0011 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0003t0001 a0001c0003t0012 a0001c0005t0003 a0001c0013t0001 a0001c0014t0001 a0004c0006t0004 a0005c0007t0001 a0006c0008t0006 a0010c0009t0006 a0011c0011t0001 a0012c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(223): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0335 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0002g0111 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0007g0110 a0001c0001t0007g0344 a0001c0001t0010g0243 a0001c0001t0011g0326 a0001c0001t0013g0281 a0001c0001t0014g0283 a0001c0003t0001g0007 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0072 a0001c0003t0001g0078 a0001c0003t0001g0082 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0100 a0001c0003t0001g0127 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0159 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0178 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0282 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0303 a0001c0003t0001g0312 a0001c0003t0001g0318 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0350 a0001c0003t0012g0081 a0001c0005t0003g0101 a0001c0005t0003g0241 a0001c0005t0003g0336 a0001c0005t0003g0337 a0001c0005t0003g0338 a0001c0005t0003g0339 a0001c0005t0003g0340 a0001c0005t0003g0341 a0001c0005t0003g0342 a0001c0005t0003g0343 a0001c0013t0001g0136 a0001c0014t0001g0298 a0004c0006t0004g0010 a0004c0006t0004g0012 a0004c0006t0004g0177 a0004c0006t0004g0330 a0004c0006t0004g0331 a0004c0006t0004g0332 a0004c0006t0004g0333 a0004c0006t0004g0334 a0005c0007t0001g0076 a0005c0007t0001g0099 a0005c0007t0001g0148 a0006c0008t0006g0160 a0006c0008t0006g0161 a0010c0009t0006g0296 a0011c0011t0001g0274 a0012c0012t0001g0118	234	356	0.6573	41	c.253 others(58): Show c.253+2996_253+3036dupGTGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGG	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955807	G G	GTCCGGGA others(34): Show GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCGCCCCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp1 NA19240.hp1 HG02615.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0009g0235 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0009g0235	3	360	0.0083	41	c.253 others(58): Show c.253+3028_253+3029insTGGGGCGGGTGGCCGGGCAGAGGCGCCC CTCACCTCCCGGA	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(34): Show TCCAGTCTCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	69	0.0145	41	c.238 others(60): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(34): Show GCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	72	0.0139	41	c.-47 others(52): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(34): Show GGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 NA19074.hp1 HG01168.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0010 a0001c0001t0001g0002 a0001c0001t0003g0010	2	73	0.0274	41	c.-47 others(52): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGCG others(34): Show GGGGGGCGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	72	0.0139	41	c.-47 others(52): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC CGCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGC others(34): Show GGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0206	1	72	0.0139	41	c.-47 others(52): Show c.-4772_-4771insACACACACACACACACACACACACACACACACCC GCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0296 a0001c0001t0019g0296	1	55	0.0182	41	c.90- others(58): Show c.90-12276_90-12275insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	55	0.0182	41	c.90- others(58): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT TTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(34): Show AACACACACACACACACACACACACACACACACACCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 NA18981.hp2 HG02056.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0138 a0001c0001t0002g0105 a0001c0001t0002g0138	2	157	0.0127	41	c.-30 others(50): Show c.-309_-308insACACACACACACACACACACACACACACACACACCA CACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EML5_chr14_88607431_88797953	88792525	T T	TCCCGCTC others(34): Show TCCCGCTCGGGCCCGCGGCGGCGACGGGAGGCGGCGGCGGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0170 a0002c0002t0034g0170	1	330	0.0030	41	c.-63 others(48): Show c.-63_-23dupGGCCGCCGCCGCCTCCCGTCGCCGCCGCGGGCCCGAGC GGG	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	1/44	23		chr14	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18945.hp1 NA18953.hp2 others(1): Show HG02135.hp1 NA18945.hp1 NA18953.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 others(1): Show a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0003g0105	4	97	0.0412	41	c.243 others(60): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENKUR_chr10_24976985_25021158	24997807	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	331	0.0030	41	c.223 others(58): Show c.223+1593_223+1594insTATATATATATATATATATATATATATA TATATATATATAT	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	2/5			chr10	TogoVar
ENOSF1_chr18_665318_717630	667017	A A	AGATGGTG others(34): Show AGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	321	0.0031	41	c.72 others(52): Show c.7287_*7288insCCATCACCATCACCATCACCATCACCATCTCCAT CACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3300		chr18	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(34): Show ACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	152	0.0066	41	c.-8+ others(58): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(34): Show ACACACACACACACACACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	152	0.0066	41	c.-8+ others(58): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(34): Show ACACACACACACACACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	152	0.0066	41	c.-8+ others(58): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(34): Show ACACACACACACACACACACACACACACACACACCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	152	0.0066	41	c.-8+ others(58): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACCCCCCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(34): Show CACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	274	0.0036	41	c.-8+ others(58): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPDR1_chr7_37915640_37956936	37956243	A A	AGGAGGTG others(34): Show AGGAGGTGGAGGAGGAGGAGGTGGAGAAGGAGGAGGTGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00621.hp1 others(26): Show HG00558.hp2 HG00609.hp2 HG00621.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01993.hp1 HG02071.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp1 HG03669.hp1 HG03688.hp1 NA18747.hp1 NA18957.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp2 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA18999.hp2 NA19003.hp1 NA19012.hp1 NA19055.hp1 NA19083.hp2 NA19088.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0002t0007 a0001c0002t0015 others(1): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0015 a0001c0004t0002	a0001c0002t0002g0026 a0001c0002t0002g0063 a0001c0002t0002g0069 others(23): Show a0001c0002t0002g0026 a0001c0002t0002g0063 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0080 a0001c0002t0002g0084 a0001c0002t0002g0179 a0001c0002t0002g0214 a0001c0002t0002g0216 a0001c0002t0002g0305 a0001c0002t0002g0318 a0001c0002t0002g0391 a0001c0002t0007g0251 a0001c0002t0007g0278 a0001c0002t0007g0280 a0001c0002t0007g0281 a0001c0002t0007g0286 a0001c0002t0015g0148 a0001c0002t0015g0159 a0001c0002t0015g0164 a0001c0004t0002g0008 a0001c0004t0002g0381 a0001c0004t0002g0384 a0001c0004t0002g0386 a0001c0004t0002g0389 a0001c0004t0002g0390	29	113	0.2566	41	c.58 others(52): Show c.5847_*5848insGGAGGTGGAGGAGGAGGAGGTGGAGAAGGAGGAG GTGGCGG	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding		4308		chr7	TogoVar
EPS8L2_chr11_701231_732727	720943	C C	CGGGGAGG others(34): Show CGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02015.hp1 HG02074.hp2 others(10): Show HG00639.hp2 HG02015.hp1 HG02074.hp2 HG03486.hp2 NA18943.hp2 NA18966.hp2 NA18967.hp2 NA18984.hp2 NA18985.hp2 NA18998.hp1 NA19067.hp2 NA19086.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0003t0001 a0001c0003t0024 a0001c0004t0005 a0001c0006t0011	a0001c0001t0001g0197 a0001c0001t0002g0268 a0001c0001t0006g0244 others(8): Show a0001c0001t0001g0197 a0001c0001t0002g0268 a0001c0001t0006g0244 a0001c0002t0001g0012 a0001c0002t0001g0279 a0001c0003t0001g0012 a0001c0003t0024g0329 a0001c0004t0005g0021 a0001c0004t0005g0064 a0001c0004t0005g0073 a0001c0006t0011g0134	13	384	0.0339	41	c.557 others(54): Show c.557+59_558-56dupGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGC CCGGCAGGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERBB3_chr12_56075165_56108505	56075860	T T	TGGGGTGG others(34): Show TGGGGTGGCTGCCGGGCGGAGACTCTCCTCACTTCCCAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	387	0.0026	41	c.-44 others(52): Show c.-4441_-4440insGGGGTGGCTGCCGGGCGGAGACTCTCCTCACTTC CCAGATG	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4304		chr12	TogoVar
ERBB4_chr2_211370717_212543802	211515912	A A	ATATATAT others(34): Show ATATATATATATATATATATACATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	26	0.0385	41	c.248 others(62): Show c.2487+45990_2487+45991insAAAAAAAAAAAAATATATATGTAT ATATATATATATATATA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERC2_chr3_55503311_56473467	55583478	C C	CCCTCCTT others(34): Show CCCTCCTTCCTTCTCTCCCCTCCCCTCCCTCCCTCTCTCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	68	0.0147	41	c.40 others(60): Show c.40-72203_*40-72202insAAGGAGAGAGGGAGGGAGGGGAGGGG AGAGAAGGAAGGAGG	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55799437	T T	TTATATAT others(34): Show TTATATATATATGCATATATATATGCCTTATATGTATGCATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01346.hp1 others(4): Show HG01069.hp1 HG01071.hp1 HG01346.hp1 HG02647.hp2 HG03195.hp2 HG03710.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0013 a0002c0003t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0052 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0002g0049 a0001c0001t0011g0047 a0001c0002t0013g0074 a0002c0003t0003g0025	7	71	0.0986	41	c.256 others(62): Show c.2565-64520_2565-64519insTATGCATACATATAAGGCATATAT ATATGCATATATATATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
EREG_chr4_74360145_74393749	74390806	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0044 a0001c0001t0007g0044	1	353	0.0028	41	c.59 others(52): Show c.5998_*5999insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding		2058		chr4	TogoVar
ERGIC1_chr5_172829251_172957683	172908345	G G	GGGGGGGG others(34): Show GGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18983.hp1 NA18971.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0153 a0001c0001t0026g0215 a0001c0001t0002g0153 a0001c0001t0026g0215	2	278	0.0072	41	c.156 others(58): Show c.156-1315_156-1314insGAGAGAGGGGAGGGGGGGAGGGGGGGAG GGGGGAGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERH_chr14_69375128_69403299	69401542	T T	TAACTTTA others(34): Show TAACTTTACCAATTCCAGTATTTTTTCAAACTACCTTGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA19091.hp1 HG00597.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	396	0.0051	41	c.-33 others(52): Show c.-3350_-3310dupCATTCAAGGTAGTTTGAAAAAATACTGGAATTGG TAAAGTT	ERH	ENSG00000100632.11	transcript	ENST00000557016.6	protein_coding		3244		chr14	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(34): Show TATATATAAATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19087.hp2 NA18981.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0140 a0001c0001t0001g0122 a0001c0001t0001g0140	2	304	0.0066	41	c.212 others(58): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATATTTATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342858	T T	TATATATA others(34): Show TATATATATAAATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	303	0.0033	41	c.212 others(58): Show c.212-3537_212-3536insTATATATATATATATATATATATATATA TATTTATATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH5_chr8_98059568_98098609	98094764	T T	TAGTAAGG others(34): Show TAGTAAGGACTAAATCTTTGTATAACCTATACAAATGAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0075 a0004c0004t0001g0075	1	440	0.0023	41	c.14 others(52): Show c.1431_*1432insAGTAAGGACTAAATCTTTGTATAACCTATACAAA TGAAACA	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding		1156		chr8	TogoVar
ESPNL_chr2_238095340_238138287	238118348	A A	ATGGATGG others(34): Show ATGGATGGAGGAGGGTAGATGGAGGAGGGTGGGTGGAGAAGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0046 a0046	a0046c0056 a0046c0056	a0046c0056t0001 a0046c0056t0001	a0046c0056t0001g0039 a0046c0056t0001g0039	1	403	0.0025	41	c.987 others(58): Show c.987+1327_987+1328insGTAGATGGAGGAGGGTGGGTGGAGAAGG TGGATGGAGGAGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESRP1_chr8_94636174_94712466	94637329	A A	ACCAGAAA others(34): Show ACCAGAAAACCACCCCCGCCTTCACATACGTTCGACGGGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	372	0.0027	41	c.-39 others(52): Show c.-3990_-3989insCCAGAAAACCACCCCCGCCTTCACATACGTTCGA CGGGCCG	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		3844		chr8	TogoVar
ESYT2_chr7_158725997_158834509	158757588	G G	GGGACGCC others(34): Show GGGACGCCCCTTAATCCAGAGCCAAAGGATCCTAGAGCCCGC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0002 a0007c0026t0002	a0007c0026t0002g0033 a0007c0026t0002g0033	1	368	0.0027	41	c.141 others(60): Show c.1419+1857_1419+1897dupGCGGGCTCTAGGATCCTTTGGCTCTG GATTAAGGGGCGTCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	13/22			chr7	TogoVar
ETFA_chr15_76210353_76316469	76311932	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA18967.hp1 NA18980.hp1 HG04199.hp2 NA18967.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0167 a0001c0001t0002g0189 a0001c0001t0002g0135 a0001c0001t0002g0167 a0001c0001t0002g0189	3	13	0.2308	41	c.-54 others(50): Show c.-545_-544insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		464		chr15	TogoVar
ETFA_chr15_76210353_76316469	76311946	T T	TTTTTTTT others(34): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	334	0.0030	41	c.-55 others(50): Show c.-559_-558insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding		478		chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(34): Show GATATATATATTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19011.hp1 NA18968.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0081 a0002c0002t0002g0082	2	251	0.0080	41	c.701 others(56): Show c.701+321_701+322insATATATATATATATATATATATATATATAT AATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(34): Show GATATATATATTTTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02083.hp1 HG02129.hp2 others(7): Show HG00544.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp2 NA18941.hp1 NA18942.hp1 NA18977.hp2 NA18982.hp1 NA19064.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0070 a0002c0002t0002g0071 others(6): Show a0002c0002t0002g0017 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0100 a0002c0002t0002g0107 a0002c0002t0002g0109	10	259	0.0386	41	c.701 others(56): Show c.701+321_701+322insATATATATATATATATATATATATATATAA AATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108750614	G G	GATATATA others(34): Show GATATATATTTTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG06807.hp1 HG03654.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0291 a0002c0002t0002g0041 a0002c0002t0001g0291 a0002c0002t0002g0041	2	251	0.0080	41	c.701 others(56): Show c.701+321_701+322insATATATATATATATATATATATATATATAT AAAATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	7/12			chr4	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19009.hp2 NA19000.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	5	0.4000	41	c.-32 others(52): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
EVI5L_chr19_7825218_7869976	7842355	A A	ATGTGTAT others(34): Show ATGTGTATCAAGTGTGTGCATGTGTGTGGGGACGTGTGAATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(259): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0002t0002 a0001c0003t0001 a0001c0005t0003 a0001c0005t0005 a0001c0005t0013 a0001c0006t0001 a0001c0006t0014 a0001c0007t0004 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(187): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0062 a0001c0001t0003g0159 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0004g0011 a0001c0001t0004g0022 a0001c0001t0004g0040 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0218 a0001c0001t0006g0064 a0001c0001t0006g0162 a0001c0001t0008g0140 a0001c0001t0009g0157 a0001c0001t0010g0021 a0001c0001t0011g0115 a0001c0001t0012g0003 a0001c0001t0015g0003 a0001c0001t0016g0017 a0001c0002t0002g0036 a0001c0002t0002g0177 a0001c0003t0001g0014 a0001c0003t0001g0026 a0001c0003t0001g0058 a0001c0005t0003g0158 a0001c0005t0005g0037 a0001c0005t0005g0063 a0001c0005t0013g0160 a0001c0006t0001g0083 a0001c0006t0001g0084 a0001c0006t0014g0085 a0001c0007t0004g0217 a0001c0009t0001g0127 a0002c0008t0001g0032	262	394	0.6650	41	c.-47 others(58): Show c.-47-4128_-47-4127insTGTGCATGTGTGTGGGGACGTGTGAATG TGTGTATCAAGTG	EVI5L	ENSG00000142459.9	transcript	ENST00000538904.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr19	TogoVar

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