Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF4G3_chr1_20801479_21181897	20998212	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18955.hp2 NA19000.hp2 others(2): Show NA18948.hp1 NA18955.hp2 NA19000.hp2 NA19054.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0266 a0001c0001t0003g0268 others(2): Show a0001c0001t0003g0250 a0001c0001t0003g0266 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270	5	312	0.0160	-10	c.145 others(25): Show c.145-589_145-580delGTGTGTGTGT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	6/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21010440	AAAAGAAA others(3): Show AAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03471.hp1 HG01981.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0312 a0001c0002t0001g0117 a0001c0001t0001g0312 a0001c0002t0001g0117	2	312	0.0064	-10	c.-66 others(27): Show c.-66-7642_-66-7633delCTTTTTCTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21023239	CCCCTCCC others(3): Show CCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG01081.hp1 others(16): Show HG00323.hp2 HG00408.hp1 HG01081.hp1 HG01358.hp1 HG01516.hp1 HG01934.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02602.hp2 HG02622.hp1 HG03492.hp2 HG03669.hp1 NA18943.hp1 NA19012.hp1 NA19078.hp2 NA19084.hp1 NA19085.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0005 a0008c0007 a0001c0001 a0003c0005 a0008c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0003c0005t0001 a0008c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0005g0280 a0001c0001t0006g0018 a0003c0005t0001g0137 a0008c0007t0001g0191	19	312	0.0609	-10	c.-66 others(29): Show c.-66-20441_-66-20432delAGGGGGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0002g0002 a0001c0001t0002g0039	2	312	0.0064	-10	c.-19 others(29): Show c.-196+6091_-196+6100delTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21125771	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG03139.hp1 HG02630.hp1 HG02922.hp1 HG03139.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0007 a0006c0008t0001 a0001c0001t0001 a0001c0001t0007 a0006c0008t0001	a0001c0001t0001g0183 a0001c0001t0007g0041 a0006c0008t0001g0184 a0001c0001t0001g0183 a0001c0001t0007g0041 a0006c0008t0001g0184	3	312	0.0096	-10	c.-27 others(31): Show c.-271-36568_-271-36559delGTGTGTGTGT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21137762	GTGAGCTA others(3): Show GTGAGCTACAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp1 HG01952.hp1 others(23): Show HG00408.hp2 HG01256.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02602.hp1 HG03239.hp1 HG03710.hp1 HG03927.hp2 HG04199.hp1 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18960.hp2 NA18964.hp2 NA18979.hp1 NA18988.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19085.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0023	a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 others(23): Show a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0010g0220 a0001c0001t0010g0232 a0001c0001t0023g0029	26	312	0.0833	-10	c.-27 others(31): Show c.-272+38403_-272+38412delTTGTAGCTCA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179908	TATAATAT others(3): Show TATAATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	312	0.0032	-10	c.-36 others(21): Show c.-3652_-3643delTATATATTAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3012		chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18957.hp1 HG04184.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0262 a0001c0001t0001g0195 a0001c0001t0001g0262	2	374	0.0054	-10	c.60- others(23): Show c.60-780_60-771delTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4H_chr7_74169356_74202096	74201186	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	374	0.0027	-10	c.58 others(21): Show c.5879_*5888delTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		4091		chr7	TogoVar
EIF5B_chr2_99332389_99406326	99360699	TAGGAATG others(3): Show TAGGAATGTAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(107): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01516.hp1 HG01884.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp2 NA18972.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19058.hp2 NA19064.hp1 NA19066.hp2 NA19072.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0001 a0002c0007 a0001c0012 a0002c0001 a0002c0007	a0001c0012t0002 a0002c0001t0002 a0002c0001t0005 others(4): Show a0001c0012t0002 a0002c0001t0002 a0002c0001t0005 a0002c0001t0018 a0002c0001t0019 a0002c0001t0020 a0002c0007t0005	a0001c0012t0002g0278 a0002c0001t0002g0019 a0002c0001t0002g0191 others(104): Show a0001c0012t0002g0278 a0002c0001t0002g0019 a0002c0001t0002g0191 a0002c0001t0002g0192 a0002c0001t0002g0197 a0002c0001t0002g0204 a0002c0001t0002g0205 a0002c0001t0002g0206 a0002c0001t0002g0207 a0002c0001t0002g0208 a0002c0001t0002g0209 a0002c0001t0002g0210 a0002c0001t0002g0211 a0002c0001t0002g0212 a0002c0001t0002g0213 a0002c0001t0002g0214 a0002c0001t0002g0215 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0002g0218 a0002c0001t0002g0219 a0002c0001t0002g0221 a0002c0001t0002g0225 a0002c0001t0002g0235 a0002c0001t0002g0237 a0002c0001t0002g0238 a0002c0001t0002g0239 a0002c0001t0002g0240 a0002c0001t0002g0241 a0002c0001t0002g0242 a0002c0001t0002g0243 a0002c0001t0002g0244 a0002c0001t0002g0245 a0002c0001t0002g0246 a0002c0001t0002g0247 a0002c0001t0002g0248 a0002c0001t0002g0249 a0002c0001t0002g0250 a0002c0001t0002g0251 a0002c0001t0002g0252 a0002c0001t0002g0253 a0002c0001t0002g0254 a0002c0001t0002g0255 a0002c0001t0002g0256 a0002c0001t0002g0257 a0002c0001t0002g0258 a0002c0001t0002g0259 a0002c0001t0002g0260 a0002c0001t0002g0261 a0002c0001t0002g0262 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0265 a0002c0001t0002g0266 a0002c0001t0002g0267 a0002c0001t0002g0268 a0002c0001t0002g0269 a0002c0001t0002g0270 a0002c0001t0002g0271 a0002c0001t0002g0272 a0002c0001t0002g0273 a0002c0001t0002g0277 a0002c0001t0002g0280 a0002c0001t0002g0282 a0002c0001t0002g0283 a0002c0001t0002g0285 a0002c0001t0002g0286 a0002c0001t0002g0287 a0002c0001t0002g0288 a0002c0001t0002g0289 a0002c0001t0002g0290 a0002c0001t0002g0300 a0002c0001t0002g0301 a0002c0001t0002g0303 a0002c0001t0005g0017 a0002c0001t0005g0018 a0002c0001t0005g0190 a0002c0001t0005g0194 a0002c0001t0005g0195 a0002c0001t0005g0196 a0002c0001t0005g0198 a0002c0001t0005g0199 a0002c0001t0005g0200 a0002c0001t0005g0201 a0002c0001t0005g0202 a0002c0001t0005g0203 a0002c0001t0005g0220 a0002c0001t0005g0222 a0002c0001t0005g0223 a0002c0001t0005g0224 a0002c0001t0005g0227 a0002c0001t0005g0228 a0002c0001t0005g0229 a0002c0001t0005g0231 a0002c0001t0005g0232 a0002c0001t0005g0233 a0002c0001t0005g0234 a0002c0001t0005g0275 a0002c0001t0005g0276 a0002c0001t0005g0279 a0002c0001t0005g0281 a0002c0001t0005g0284 a0002c0001t0018g0193 a0002c0001t0019g0236 a0002c0001t0020g0226 a0002c0007t0005g0230 a0002c0007t0005g0274	110	342	0.3216	-10	c.246 others(25): Show c.246+154_246+163delAATGTAAAGG	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF5B_chr2_99332389_99406326	99386468	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(169): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18972.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19072.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0003c0010 a0004c0008	a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 others(17): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0010 a0001c0002t0016 a0001c0002t0023 a0001c0003t0001 a0001c0003t0008 a0001c0003t0009 a0001c0003t0011 a0001c0003t0013 a0001c0003t0014 a0001c0003t0021 a0001c0004t0001 a0001c0004t0006 a0001c0004t0015 a0001c0009t0001 a0001c0011t0022 a0003c0010t0003 a0004c0008t0001	a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0012 others(139): Show a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0121 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0176 a0001c0002t0003g0001 a0001c0002t0003g0004 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0177 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0007g0178 a0001c0002t0007g0184 a0001c0002t0007g0185 a0001c0002t0007g0186 a0001c0002t0007g0187 a0001c0002t0010g0122 a0001c0002t0010g0123 a0001c0002t0010g0124 a0001c0002t0010g0125 a0001c0002t0016g0135 a0001c0002t0023g0147 a0001c0003t0001g0009 a0001c0003t0001g0026 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0008g0003 a0001c0003t0008g0082 a0001c0003t0009g0027 a0001c0003t0009g0028 a0001c0003t0009g0030 a0001c0003t0009g0031 a0001c0003t0011g0023 a0001c0003t0011g0024 a0001c0003t0011g0025 a0001c0003t0013g0072 a0001c0003t0013g0073 a0001c0003t0014g0032 a0001c0003t0014g0033 a0001c0003t0021g0302 a0001c0004t0001g0002 a0001c0004t0001g0005 a0001c0004t0001g0022 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0103 a0001c0004t0001g0104 a0001c0004t0001g0105 a0001c0004t0006g0010 a0001c0004t0006g0106 a0001c0004t0006g0107 a0001c0004t0006g0108 a0001c0004t0006g0110 a0001c0004t0015g0096 a0001c0009t0001g0156 a0001c0011t0022g0304 a0003c0010t0003g0159 a0004c0008t0001g0149	172	342	0.5029	-10	c.227 others(29): Show c.2272-3223_2272-3214delGTGTGTGTGT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIPR1_chr2_3183970_3382818	3225222	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	250	0.0040	-10	c.417 others(29): Show c.417-10984_417-10975delCACACACACA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3243400	CAGGTGGA others(3): Show CAGGTGGATCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(60): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01255.hp1 HG01346.hp1 HG01515.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03017.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18957.hp1 NA18963.hp2 NA18970.hp1 NA18979.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp2 NA19085.hp1 NA19090.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0006t0003	a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 others(60): Show a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0002g0073 a0001c0001t0002g0113 a0001c0001t0002g0208 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0091 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0006t0003g0203	63	250	0.2520	-10	c.416 others(29): Show c.416+13889_416+13898delTGATCCACCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3269411	CATCGCAC others(3): Show CATCGCACTCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00642.hp2 others(44): Show HG00280.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02280.hp2 HG02622.hp2 HG02698.hp2 HG02735.hp2 HG02895.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04228.hp2 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18983.hp2 NA19005.hp2 NA19010.hp2 NA19084.hp1 NA19090.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0004t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0024 others(44): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0235 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0077 a0001c0001t0003g0131 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0076 a0001c0004t0001g0074	47	250	0.1880	-10	c.260 others(29): Show c.260-11966_260-11957delTGAGTGCGAT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3269589	CATCGCAC others(3): Show CATCGCACTCA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	250	0.0040	-10	c.260 others(29): Show c.260-12144_260-12135delTGAGTGCGAT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3294984	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(146): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18999.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19064.hp1 NA19066.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0024 others(146): Show a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0086 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0131 a0001c0001t0003g0150 a0001c0001t0003g0198 a0001c0001t0003g0218 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0004g0107 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0076 a0001c0001t0009g0248 a0001c0002t0002g0142 a0001c0004t0001g0074 a0001c0005t0001g0104	149	250	0.5960	-10	c.260 others(29): Show c.260-37539_260-37530delGTGTGTGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3350117	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	250	0.0040	-10	c.126 others(27): Show c.126+4423_126+4432delTTTTTTTTTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	2/8			chr2	TogoVar
ELAC1_chr18_50963040_50993121	50964666	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01978.hp2 HG02071.hp2 others(5): Show HG01123.hp1 HG01978.hp2 HG02071.hp2 NA18955.hp2 NA18960.hp2 NA18990.hp2 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0071 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0071 a0001c0001t0002g0102	8	384	0.0208	-10	c.-34 others(21): Show c.-3456_-3447delAAAAAAAAAA	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding		3373		chr18	TogoVar
ELAC1_chr18_50963040_50993121	50971906	GTGTGTGT others(3): Show GTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	384	0.0026	-10	c.-8- others(25): Show c.-8-2489_-8-2480delGTGTGTATAT	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELAC1_chr18_50963040_50993121	50971908	GTGTGTAT others(3): Show GTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(92): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp2 HG02735.hp1 HG03225.hp1 HG03453.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp1 NA18906.hp1 NA18940.hp1 NA18949.hp1 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19086.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0003t0002 a0003c0005t0002	a0001c0001t0001g0193 a0001c0001t0002g0001 a0001c0001t0002g0007 others(46): Show a0001c0001t0001g0193 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0216 a0001c0001t0008g0001 a0001c0003t0002g0001 a0001c0003t0002g0182 a0003c0005t0002g0042	95	384	0.2474	-10	c.-8- others(25): Show c.-8-2487_-8-2478delGTGTATATAT	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELAC1_chr18_50963040_50993121	50971912	GTATATAT others(3): Show GTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	384	0.0026	-10	c.-8- others(25): Show c.-8-2463_-8-2454delATATATATAT	ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELAC2_chr17_12986612_13023027	13020229	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp2 NA18993.hp1 NA18993.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0001 a0009c0014t0001 a0001c0001t0001 a0009c0014t0001	a0001c0001t0001g0107 a0009c0014t0001g0108 a0001c0001t0001g0107 a0009c0014t0001g0108	2	400	0.0050	-10	c.-22 others(21): Show c.-2292_-2283delCTTTTTTTTT	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		2203		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022554	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	400	0.0025	-10	c.-46 others(21): Show c.-4617_-4608delGAAAGAAAGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4528		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022618	GTCTCTCT others(3): Show GTCTCTCTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02809.hp2 HG02735.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0190 a0001c0001t0014g0115 a0001c0001t0001g0190 a0001c0001t0014g0115	2	400	0.0050	-10	c.-46 others(21): Show c.-4681_-4672delGAGAGAGAGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4592		chr17	TogoVar
ELANE_chr19_847303_861243	847555	AAGAGAGA others(3): Show AAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0006 a0001c0001t0001g0008	2	403	0.0050	-10	c.-47 others(21): Show c.-4773_-4764delAGAGAGAGAG	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		4747		chr19	TogoVar
ELANE_chr19_847303_861243	849684	CTTTCTTT others(3): Show CTTTCTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	403	0.0025	-10	c.-26 others(21): Show c.-2644_-2635delTTTCTTTTTT	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		2618		chr19	TogoVar
ELANE_chr19_847303_861243	849688	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(102): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01175.hp1 HG01256.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02970.hp2 HG03139.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18999.hp1 NA19004.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0007c0014	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 a0007c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0006t0001g0006 a0001c0006t0001g0008 a0002c0003t0001g0011 a0002c0003t0001g0018 a0007c0014t0001g0005	105	403	0.2606	-10	c.-26 others(21): Show c.-2640_-2631delTTTTTTTTTT	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		2614		chr19	TogoVar
ELANE_chr19_847303_861243	856724	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(162): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18956.hp1 NA18960.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0005c0009 a0006c0010	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0008t0001 a0005c0009t0001 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0024 a0001c0005t0001g0012 a0001c0005t0001g0048 a0001c0008t0001g0001 a0001c0008t0001g0007 a0005c0009t0001g0092 a0006c0010t0001g0001	165	403	0.4094	-10	c.56 others(19): Show c.561_*570delAAAAAAAAAA	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		482		chr19	TogoVar
ELAPOR1_chr1_109109115_109211781	109113406	GAGAGAGA others(3): Show GAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0025 a0002c0005t0025	a0002c0005t0025g0011 a0002c0005t0025g0011	1	230	0.0044	-10	c.-77 others(19): Show c.-777_-768delAGAGAGAGAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		708		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109113416	AAGAGAGA others(3): Show AAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG02015.hp2 others(1): Show HG00140.hp1 HG01109.hp1 HG02015.hp2 HG02723.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0009 a0003c0007 a0001c0002 a0002c0009 a0003c0007	a0001c0002t0002 a0002c0009t0003 a0003c0007t0004 a0001c0002t0002 a0002c0009t0003 a0003c0007t0004	a0001c0002t0002g0189 a0002c0009t0003g0147 a0003c0007t0004g0146 others(1): Show a0001c0002t0002g0189 a0002c0009t0003g0147 a0003c0007t0004g0146 a0003c0007t0004g0209	4	230	0.0174	-10	c.-76 others(19): Show c.-767_-758delAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		698		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109125385	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0030 a0002c0027t0030	a0002c0027t0030g0094 a0002c0027t0030g0094	1	230	0.0044	-10	c.153 others(29): Show c.153+11069_153+11078delGTTTTGTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109139343	AAAATAAA others(3): Show AAAATAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp2 HG02293.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0047 a0001c0002t0003g0167 a0001c0001t0002g0047 a0001c0002t0003g0167	2	230	0.0087	-10	c.154 others(29): Show c.154-22537_154-22528delTAAAAATAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109153616	GTGTTTTG others(3): Show GTGTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01099.hp2 HG01167.hp1 others(4): Show HG00733.hp1 HG01099.hp2 HG01167.hp1 HG01516.hp1 HG01517.hp2 HG03471.hp2 HG03540.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0010 a0002c0037 others(1): Show a0001c0001 a0002c0010 a0002c0037 a0007c0036	a0001c0001t0014 a0002c0010t0008 a0002c0037t0027 others(1): Show a0001c0001t0014 a0002c0010t0008 a0002c0037t0027 a0007c0036t0003	a0001c0001t0014g0203 a0002c0010t0008g0002 a0002c0010t0008g0003 others(4): Show a0001c0001t0014g0203 a0002c0010t0008g0002 a0002c0010t0008g0003 a0002c0010t0008g0004 a0002c0010t0008g0005 a0002c0037t0027g0191 a0007c0036t0003g0162	7	230	0.0304	-10	c.154 others(27): Show c.154-8245_154-8236delTTTTGTTTTG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109161409	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG03225.hp1 others(1): Show HG01884.hp1 HG02976.hp1 HG03225.hp1 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0030 a0003c0004 a0003c0030	a0003c0004t0004 a0003c0030t0004 a0003c0004t0004 a0003c0030t0004	a0003c0004t0004g0068 a0003c0004t0004g0071 a0003c0004t0004g0080 others(1): Show a0003c0004t0004g0068 a0003c0004t0004g0071 a0003c0004t0004g0080 a0003c0030t0004g0081	4	230	0.0174	-10	c.154 others(25): Show c.154-470_154-461delAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109174413	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp1 HG03831.hp1 others(1): Show HG03486.hp1 HG03540.hp1 HG03831.hp1 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0019 a0003c0004 a0001c0001 a0001c0019 a0003c0004	a0001c0001t0003 a0001c0019t0003 a0003c0004t0004 a0001c0001t0003 a0001c0019t0003 a0003c0004t0004	a0001c0001t0003g0120 a0001c0019t0003g0179 a0003c0004t0004g0070 others(1): Show a0001c0001t0003g0120 a0001c0019t0003g0179 a0003c0004t0004g0070 a0003c0004t0004g0075	4	230	0.0174	-10	c.952 others(25): Show c.952+602_952+611delAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109175826	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(81): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp2 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0013 others(8): Show a0001c0001 a0001c0002 a0001c0013 a0001c0024 a0001c0025 a0001c0038 a0002c0003 a0004c0008 a0004c0011 a0007c0036 a0008c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0035 a0001c0002t0038 a0001c0013t0001 a0001c0013t0031 a0001c0024t0001 a0001c0025t0037 a0001c0038t0015 a0002c0003t0003 a0002c0003t0023 a0004c0008t0009 a0004c0008t0041 a0004c0011t0009 a0004c0011t0040 a0007c0036t0003 a0008c0023t0034	a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0023 others(81): Show a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0229 a0001c0001t0002g0040 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0118 a0001c0001t0005g0013 a0001c0001t0005g0057 a0001c0001t0013g0103 a0001c0001t0014g0203 a0001c0001t0020g0117 a0001c0001t0020g0128 a0001c0001t0021g0099 a0001c0001t0021g0107 a0001c0001t0036g0063 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0152 a0001c0002t0001g0158 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0001g0195 a0001c0002t0001g0199 a0001c0002t0001g0215 a0001c0002t0001g0220 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0003g0139 a0001c0002t0003g0153 a0001c0002t0003g0167 a0001c0002t0003g0182 a0001c0002t0003g0196 a0001c0002t0003g0201 a0001c0002t0010g0211 a0001c0002t0013g0219 a0001c0002t0014g0159 a0001c0002t0015g0218 a0001c0002t0035g0161 a0001c0002t0038g0144 a0001c0013t0001g0105 a0001c0013t0001g0106 a0001c0013t0031g0069 a0001c0024t0001g0096 a0001c0025t0037g0102 a0001c0038t0015g0214 a0002c0003t0003g0079 a0002c0003t0003g0086 a0002c0003t0023g0213 a0004c0008t0009g0065 a0004c0008t0009g0125 a0004c0008t0009g0126 a0004c0008t0009g0129 a0004c0008t0041g0059 a0004c0011t0009g0163 a0004c0011t0040g0173 a0007c0036t0003g0162 a0008c0023t0034g0054	84	230	0.3652	-10	c.952 others(27): Show c.952+2005_952+2014delAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109176606	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02622.hp2 HG02895.hp1 others(2): Show HG00639.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0002c0003 a0001c0013 a0002c0003	a0001c0013t0001 a0001c0013t0031 a0002c0003t0003 a0001c0013t0001 a0001c0013t0031 a0002c0003t0003	a0001c0013t0001g0105 a0001c0013t0001g0106 a0001c0013t0031g0069 others(2): Show a0001c0013t0001g0105 a0001c0013t0001g0106 a0001c0013t0031g0069 a0002c0003t0003g0079 a0002c0003t0003g0086	5	230	0.0217	-10	c.952 others(27): Show c.952+2777_952+2786delTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86905182	AAGAGAGA others(3): Show AAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	196	0.0051	-10	c.255 others(29): Show c.2558+2478_2558+2487delCTCTCTCTCT	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	18/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86908150	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02559.hp2 others(4): Show HG02109.hp1 HG02258.hp1 HG02559.hp2 HG02717.hp2 HG02970.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0025 a0001c0004t0003g0026 a0001c0004t0003g0028 others(4): Show a0001c0004t0003g0025 a0001c0004t0003g0026 a0001c0004t0003g0028 a0001c0004t0003g0029 a0001c0004t0003g0030 a0001c0004t0003g0074 a0001c0004t0003g0185	7	196	0.0357	-10	c.245 others(27): Show c.2456+287_2456+296delGTGTGTGTGT	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	17/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86964254	AAATTAAC others(3): Show AAATTAACGAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	196	0.0051	-10	c.310 others(25): Show c.310+640_310+649delATCGTTAATT	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	2/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	87052776	CTTTTGTT others(3): Show CTTTTGTTTTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 NA20129.hp1 HG02451.hp2 HG02717.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0007 a0002c0002t0001g0183 a0002c0002t0001g0184 a0001c0001t0001g0007 a0002c0002t0001g0183 a0002c0002t0001g0184	3	196	0.0153	-10	c.189 others(27): Show c.189+6539_189+6548delCAAAACAAAA	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21			chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7972800	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18968.hp2 HG03098.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0025 a0001c0001t0012 a0001c0001t0025	a0001c0001t0012g0234 a0001c0001t0025g0038 a0001c0001t0012g0234 a0001c0001t0025g0038	2	276	0.0073	-10	c.430 others(25): Show c.430+915_430+924delAAAAAAAAAA	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding	4/5			chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23741081	TCAGGCTT others(3): Show TCAGGCTTAAC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0352 a0001c0001t0023g0352	1	352	0.0028	-10	c.230 others(27): Show c.230-9966_230-9957delGTTAAGCCTG	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23747382	AACTAAAC others(3): Show AACTAAACTGC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG03540.hp1 others(1): Show HG02451.hp1 HG03516.hp1 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0258 a0001c0001t0006g0260 a0001c0001t0008g0256 others(1): Show a0001c0001t0001g0258 a0001c0001t0006g0260 a0001c0001t0008g0256 a0001c0001t0008g0257	4	352	0.0114	-10	c.229 others(29): Show c.229+14614_229+14623delGCAGTTTAGT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23759754	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00673.hp2 others(31): Show HG00408.hp1 HG00544.hp2 HG00673.hp2 HG01167.hp2 HG01261.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02622.hp2 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp2 HG06807.hp1 NA18954.hp1 NA18968.hp2 NA18969.hp1 NA18980.hp1 NA18994.hp1 NA19007.hp2 NA19058.hp1 NA20300.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0008 a0005c0006 a0001c0001 a0004c0008 a0005c0006	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0004c0008t0014 a0005c0006t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0090 others(31): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0090 a0001c0001t0001g0109 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0187 a0001c0001t0001g0220 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0012g0293 a0001c0001t0012g0297 a0004c0008t0014g0042 a0005c0006t0001g0279	34	352	0.0966	-10	c.229 others(27): Show c.229+2242_229+2251delTATATATATA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23772534	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02622.hp2 others(2): Show HG01884.hp1 HG02258.hp2 HG02622.hp2 HG02965.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0010 a0001c0001t0011 a0003c0007t0004 a0001c0001t0010 a0001c0001t0011 a0003c0007t0004	a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0011g0005 others(2): Show a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0011g0005 a0001c0001t0011g0007 a0003c0007t0004g0300	5	352	0.0142	-10	c.-15 others(29): Show c.-15-10295_-15-10286delTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23821756	CCCGCGCC others(3): Show CCCGCGCCGCG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02074.hp1 HG02683.hp2 others(4): Show HG00673.hp1 HG02074.hp1 HG02683.hp2 HG03927.hp2 NA18952.hp1 NA18966.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(4): Show a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0340 a0001c0001t0003g0264 a0001c0001t0007g0268 a0001c0001t0007g0269	7	352	0.0199	-10	c.-16 others(27): Show c.-16+4040_-16+4049delCGCGGCGCGG	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50119084	GAAAGAAA others(3): Show GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03579.hp2 NA18942.hp1 others(2): Show HG02896.hp1 HG03579.hp2 NA18942.hp1 NA19065.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0002t0001g0102 a0001c0002t0001g0103	5	276	0.0181	-10	c.9+9 others(23): Show c.9+9894_9+9903delGAAAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50133635	GAAAGAAA others(3): Show GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19043.hp2 NA19240.hp2 HG02280.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194	3	276	0.0109	-10	c.10- others(27): Show c.10-11320_10-11311delAAGAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50149694	CCACCACG others(3): Show CCACCACGCCT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0130 a0001c0002t0008g0130	1	276	0.0036	-10	c.250 others(27): Show c.250+4498_250+4507delCACCACGCCT	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	2/6			chr1	TogoVar