Joint Open Genome and Omics Platform (JoGo)

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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
ELAVL2_chr9_23685104_23831240	23699812	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	352	0.0028	18	c.713 others(35): Show c.713+1549_713+1566dupAAAAAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01081.hp2 others(13): Show HG00642.hp1 HG01081.hp1 HG01081.hp2 HG01934.hp1 HG02004.hp2 HG03209.hp2 NA18943.hp1 NA18951.hp1 NA18953.hp1 NA18969.hp2 NA18974.hp2 NA19056.hp2 NA19057.hp2 NA19077.hp1 NA19081.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0058 a0001c0001t0001g0112 a0001c0001t0001g0161 others(13): Show a0001c0001t0001g0058 a0001c0001t0001g0112 a0001c0001t0001g0161 a0001c0001t0001g0241 a0001c0001t0001g0259 a0001c0001t0003g0250 a0001c0001t0005g0057 a0001c0001t0005g0175 a0001c0001t0006g0166 a0001c0002t0002g0004 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0028 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0041	16	352	0.0455	18	c.230 others(35): Show c.230-3998_230-3981dupTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23759754	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG01358.hp2 others(9): Show HG00621.hp2 HG01123.hp1 HG01358.hp2 NA18747.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18962.hp1 NA19068.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0162 others(9): Show a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0003g0156 a0001c0001t0003g0163 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0040	12	352	0.0341	18	c.229 others(35): Show c.229+2234_229+2251dupTATATATATATATATATA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23786802	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG02004.hp1 others(2): Show HG00438.hp1 HG01106.hp1 HG02004.hp1 NA18966.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0316 a0001c0001t0001g0325 a0001c0001t0001g0340 others(2): Show a0001c0001t0001g0316 a0001c0001t0001g0325 a0001c0001t0001g0340 a0001c0001t0003g0152 a0001c0001t0003g0304	5	352	0.0142	18	c.-15 others(37): Show c.-15-24554_-15-24553insGTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830601	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02071.hp1 others(6): Show HG01167.hp1 HG01169.hp1 HG02071.hp1 HG02135.hp2 HG02602.hp1 HG03490.hp2 HG03492.hp2 NA18988.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0069 a0001c0001t0001g0290 a0001c0001t0001g0336 others(6): Show a0001c0001t0001g0069 a0001c0001t0001g0290 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0003g0313 a0001c0001t0004g0307 a0001c0001t0022g0072	9	352	0.0256	18	c.-48 others(29): Show c.-4812_-4811insGTGTGTGTGTGTGTGTGT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding		4362		chr9	TogoVar
ELF1_chr13_40926924_41024316	40957055	G G	GTCTAAAT others(11): Show GTCTAAATTGAGCTAAAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(109): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0008	a0002c0002 a0003c0004 a0003c0016 others(3): Show a0002c0002 a0003c0004 a0003c0016 a0003c0018 a0007c0015 a0008c0017	a0002c0002t0002 a0003c0004t0001 a0003c0016t0001 others(3): Show a0002c0002t0002 a0003c0004t0001 a0003c0016t0001 a0003c0018t0003 a0007c0015t0002 a0008c0017t0004	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(108): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0078 a0002c0002t0002g0086 a0002c0002t0002g0131 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0174 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0258 a0002c0002t0002g0279 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0288 a0002c0002t0002g0294 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0351 a0002c0002t0002g0356 a0003c0004t0001g0198 a0003c0004t0001g0199 a0003c0004t0001g0202 a0003c0004t0001g0203 a0003c0004t0001g0214 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0250 a0003c0004t0001g0252 a0003c0004t0001g0302 a0003c0004t0001g0303 a0003c0016t0001g0052 a0003c0018t0003g0023 a0007c0015t0002g0038 a0008c0017t0004g0047	112	362	0.3094	18	c.253 others(35): Show c.253+1780_253+1781insGCTTTAGCTCAATTTAGA	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF4_chrX_130058955_130115497	130102876	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp1 HG02818.hp1 others(1): Show HG02451.hp1 HG02809.hp1 HG02818.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0035 a0001c0001t0001 a0001c0001t0005 a0001c0001t0035	a0001c0001t0001g0116 a0001c0001t0005g0121 a0001c0001t0005g0127 others(1): Show a0001c0001t0001g0116 a0001c0001t0005g0121 a0001c0001t0005g0127 a0001c0001t0035g0084	4	274	0.0146	18	c.-21 others(37): Show c.-210+7448_-210+7449insTTCTTTCTTTCTTTCTTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELF4_chrX_130058955_130115497	130102884	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0251 a0001c0002t0004g0251	1	274	0.0037	18	c.-21 others(37): Show c.-210+7440_-210+7441insTTCTTTCTTTCTTTCTTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELFN1_chr7_1665277_1752946	1719268	G G	GCCACCAA others(11): Show GCCACCAACAGGGCCCCGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp1 others(100): Show HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01496.hp1 HG01516.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18993.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19055.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19082.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0009 a0012 a0014	a0001c0001 a0001c0002 a0001c0026 others(7): Show a0001c0001 a0001c0002 a0001c0026 a0002c0003 a0002c0024 a0003c0006 a0005c0009 a0009c0015 a0012c0022 a0014c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0056 a0001c0001t0060 a0001c0001t0064 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0018 a0001c0002t0027 a0001c0002t0030 a0001c0002t0031 a0001c0026t0057 a0002c0003t0003 a0002c0003t0024 a0002c0003t0050 a0002c0024t0030 a0003c0006t0016 a0005c0009t0001 a0009c0015t0032 a0012c0022t0001 a0014c0020t0002	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0022 others(100): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0283 a0001c0001t0001g0299 a0001c0001t0002g0112 a0001c0001t0002g0198 a0001c0001t0002g0209 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0247 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0003g0016 a0001c0001t0003g0024 a0001c0001t0003g0300 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0301 a0001c0001t0005g0027 a0001c0001t0005g0048 a0001c0001t0005g0162 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0294 a0001c0001t0008g0010 a0001c0001t0008g0021 a0001c0001t0008g0193 a0001c0001t0011g0084 a0001c0001t0011g0105 a0001c0001t0011g0241 a0001c0001t0012g0013 a0001c0001t0012g0184 a0001c0001t0012g0211 a0001c0001t0012g0212 a0001c0001t0013g0199 a0001c0001t0015g0271 a0001c0001t0019g0154 a0001c0001t0021g0263 a0001c0001t0023g0196 a0001c0001t0023g0228 a0001c0001t0025g0046 a0001c0001t0026g0012 a0001c0001t0033g0248 a0001c0001t0033g0285 a0001c0001t0035g0047 a0001c0001t0036g0138 a0001c0001t0049g0017 a0001c0001t0051g0011 a0001c0001t0052g0026 a0001c0001t0056g0195 a0001c0001t0060g0246 a0001c0001t0064g0006 a0001c0002t0001g0243 a0001c0002t0003g0103 a0001c0002t0003g0110 a0001c0002t0003g0221 a0001c0002t0003g0244 a0001c0002t0003g0251 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0270 a0001c0002t0003g0272 a0001c0002t0004g0236 a0001c0002t0004g0238 a0001c0002t0004g0249 a0001c0002t0004g0255 a0001c0002t0004g0262 a0001c0002t0004g0277 a0001c0002t0018g0229 a0001c0002t0027g0049 a0001c0002t0027g0190 a0001c0002t0030g0269 a0001c0002t0031g0237 a0001c0026t0057g0187 a0002c0003t0003g0014 a0002c0003t0024g0183 a0002c0003t0050g0179 a0002c0024t0030g0020 a0003c0006t0016g0182 a0003c0006t0016g0201 a0005c0009t0001g0250 a0009c0015t0032g0191 a0012c0022t0001g0025 a0014c0020t0002g0054	103	302	0.3411	18	c.-29 others(39): Show c.-294+10046_-294+10063dupGCCCCGCCCACCAACAGG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN1_chr7_1665277_1752946	1719315	G G	GGCCCCGC others(11): Show GGCCCCGCCCACCAACAGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0273 a0001c0001t0007g0273	1	302	0.0033	18	c.-29 others(39): Show c.-294+10063_-294+10064insGCCCCGCCCACCAACAGA	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3			chr7	TogoVar
ELFN1_chr7_1665277_1752946	1719340	C C	CCCACCAA others(11): Show CCCACCAACAGGACCCAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG03579.hp2 HG02717.hp1 HG02922.hp2 HG03579.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0012 a0001c0001 a0013c0012	a0001c0001t0001 a0013c0012t0032 a0001c0001t0001 a0013c0012t0032	a0001c0001t0001g0158 a0001c0001t0001g0160 a0013c0012t0032g0159 a0001c0001t0001g0158 a0001c0001t0001g0160 a0013c0012t0032g0159	3	302	0.0099	18	c.-29 others(39): Show c.-294+10099_-294+10100insACCCAAGCCACCAACAGG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN2_chr22_37362960_37432479	37431867	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA18906.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0008 a0001c0003t0042 a0001c0002t0008 a0001c0003t0042	a0001c0002t0008g0228 a0001c0003t0042g0229 a0001c0002t0008g0228 a0001c0003t0042g0229	2	334	0.0060	18	c.-51 others(29): Show c.-5184_-5183insGTGTGTGTGTGTGTGTGT	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding		4389		chr22	TogoVar
ELK1_chrX_47630521_47655563	47650530	A A	AGGTGGTG others(11): Show AGGTGGTGGTGGCGGTGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01258.hp1 HG01261.hp1 HG01993.hp2 HG01258.hp1 HG01261.hp1 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0031 a0001c0001t0003g0014 a0001c0001t0003g0031	3	276	0.0109	18	c.-26 others(27): Show c.-266_-249dupGCCACCGCCACCACCACC	ELK1	ENSG00000126767.18	transcript	ENST00000376983.8	protein_coding	1/7	9090		chrX	TogoVar
ELK3_chr12_96189375_96274824	96210561	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	354	0.0028	18	c.-2- others(35): Show c.-2-13003_-2-13002insGCACACACACACACACAC	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK3_chr12_96189375_96274824	96228442	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02293.hp2 HG02300.hp1 HG01952.hp2 HG02293.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019	3	354	0.0085	18	c.207 others(35): Show c.207+4671_207+4672insAAAAAAAAAAAAAAAGAA	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK3_chr12_96189375_96274824	96260016	C C	CATTTTCA others(11): Show CATTTTCATTGAGGCAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	354	0.0028	18	c.112 others(35): Show c.1125+167_1125+184dupTTCATTGAGGCAGAAATT	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK3_chr12_96189375_96274824	96271489	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG01167.hp1 others(6): Show HG00738.hp1 HG01109.hp2 HG01167.hp1 HG02055.hp1 HG02818.hp2 HG02895.hp1 NA18944.hp2 NA18964.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0344 a0001c0001t0004g0008 a0001c0001t0004g0106 others(6): Show a0001c0001t0001g0344 a0001c0001t0004g0008 a0001c0001t0004g0106 a0001c0001t0004g0212 a0001c0001t0004g0320 a0001c0001t0007g0114 a0001c0001t0007g0211 a0001c0001t0010g0301 a0001c0001t0011g0081	9	354	0.0254	18	c.43 others(29): Show c.4309_*4310insTGTGTGTGTGTGTGTGTG	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding		1666		chr12	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02922.hp2 others(2): Show HG02280.hp2 HG02647.hp2 HG02922.hp2 HG03516.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0119 a0002c0002t0001g0120 others(2): Show a0002c0002t0001g0026 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0133 a0002c0002t0001g0135	5	314	0.0159	18	c.482 others(33): Show c.482-515_482-514insAAAAAAAAAAAAAATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19002.hp2 HG02132.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0236 a0001c0001t0001g0185 a0001c0001t0001g0236	2	244	0.0082	18	c.870 others(35): Show c.870-3210_870-3193dupTTTTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18482794	T T	TTGTTGTT others(11): Show TTGTTGTTGTTGTTGCTGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03654.hp1 HG03041.hp2 HG03654.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0006 a0001c0004 a0003c0006	a0001c0004t0006 a0003c0006t0001 a0001c0004t0006 a0003c0006t0001	a0001c0004t0006g0156 a0003c0006t0001g0226 a0001c0004t0006g0156 a0003c0006t0001g0226	2	244	0.0082	18	c.136 others(35): Show c.136-9913_136-9912insGCAGCAACAACAACAACA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509582	T T	TGTGCGCA others(11): Show TGTGCGCACGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	244	0.0041	18	c.135 others(37): Show c.135+12338_135+12339insGCGCGCGCGCGTGCGCAC	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTTTTT others(11): Show CTCTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	92	0.0109	18	c.65 others(29): Show c.6525_*6526insAAAAAAAAAAAAAAAAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36897327	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0023 a0001c0002t0004g0023	1	92	0.0109	18	c.143 others(37): Show c.1438-2311_1438-2310insGCACACACACACACACAC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36897349	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp2 HG04228.hp2 HG01256.hp1 HG01361.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0008 a0001c0001t0012 a0001c0003t0008	a0001c0001t0012g0066 a0001c0003t0008g0045 a0001c0003t0008g0079 a0001c0001t0012g0066 a0001c0003t0008g0045 a0001c0003t0008g0079	3	92	0.0326	18	c.143 others(37): Show c.1438-2333_1438-2332insTCACACACACACACACAC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02559.hp2 HG02895.hp2 others(2): Show HG01978.hp1 HG02559.hp2 HG02895.hp2 HG02896.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0002t0007 a0001c0003t0002	a0001c0001t0001g0074 a0001c0001t0013g0078 a0001c0002t0001g0071 others(2): Show a0001c0001t0001g0074 a0001c0001t0013g0078 a0001c0002t0001g0071 a0001c0002t0007g0064 a0001c0003t0002g0020	5	92	0.0544	18	c.143 others(37): Show c.1438-4668_1438-4667insAAAAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37053285	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0042 a0001c0005t0002g0042	1	92	0.0109	18	c.130 others(39): Show c.1301-39868_1301-39851dupGTGTGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37126300	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	92	0.0109	18	c.119 others(37): Show c.1191+6812_1191+6829dupATATATATATATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	14/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	92	0.0109	18	c.108 others(39): Show c.1087-28689_1087-28672dupATATATATATATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37247895	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0091 a0001c0003t0002g0091	1	92	0.0109	18	c.414 others(35): Show c.414-3522_414-3505dupCACACACACACACACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	6/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37417683	C C	CACACACA others(11): Show CACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	92	0.0109	18	c.-74 others(37): Show c.-74+30991_-74+30992insTTGTGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37437979	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	92	0.0109	18	c.-74 others(37): Show c.-74+10678_-74+10695dupTTTTTTTTTTTTTTTTTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46369961	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18969.hp2 HG02717.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0193 a0001c0001t0005g0148 a0001c0001t0002g0193 a0001c0001t0005g0148	2	312	0.0064	18	c.188 others(35): Show c.1884+464_1884+481dupACACACACACACACACAC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	20/21			chr20	TogoVar
ELMOD1_chr11_107586147_107671779	107590413	T T	TCCCCCTC others(11): Show TCCCCCTCCCTCCCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	342	0.0029	18	c.-10 others(29): Show c.-1082_-1081insCCCCCTCCCTCCCTCCCC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		733		chr11	TogoVar
ELMOD3_chr2_85349769_85396748	85355962	C C	CTGATCAT others(11): Show CTGATCATTATTACCACAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18947.hp1 NA18949.hp2 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19066.hp1 NA19072.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0009 a0012	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0008c0015 a0009c0010 a0012c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0002c0002t0002 a0003c0003t0001 a0003c0003t0014 a0005c0005t0001 a0005c0005t0002 a0005c0005t0015 a0008c0015t0003 a0009c0010t0001 a0012c0013t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 others(112): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0007g0072 a0001c0001t0007g0129 a0001c0001t0008g0133 a0001c0001t0009g0093 a0001c0001t0010g0058 a0001c0001t0013g0105 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0003c0003t0001g0012 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0014g0084 a0005c0005t0001g0056 a0005c0005t0001g0110 a0005c0005t0001g0112 a0005c0005t0002g0061 a0005c0005t0015g0060 a0008c0015t0003g0079 a0009c0010t0001g0135 a0012c0013t0002g0041	125	386	0.3238	18	c.-23 others(35): Show c.-233+366_-233+367insATCATTATTACCACAGTG	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELOA_chr1_23738471_23767059	23758251	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18964.hp2 HG03927.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0216 a0001c0001t0001g0164 a0001c0001t0001g0216	2	400	0.0050	18	c.225 others(37): Show c.2257+1129_2257+1130insTTTTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23758266	T T	TTTTTTAT others(11): Show TTTTTTATTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp1 HG03579.hp2 HG01884.hp1 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0097 a0001c0001t0001g0032 a0001c0001t0001g0097	3	400	0.0075	18	c.225 others(37): Show c.2257+1146_2257+1147insATTTTTTTTTTTATTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23758266	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	400	0.0025	18	c.225 others(37): Show c.2257+1158_2257+1159insATTTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOVL2_chr6_10975759_11049305	10978306	T T	TATATATA others(11): Show TATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA19240.hp1 HG04204.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0010 a0001c0001t0014	a0001c0001t0010g0013 a0001c0001t0014g0193 a0001c0001t0010g0013 a0001c0001t0014g0193	2	380	0.0053	18	c.54 others(29): Show c.5474_*5475insTTATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2452		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	10978310	T T	TATATATA others(11): Show TATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18974.hp1 NA18992.hp1 others(1): Show HG02074.hp1 NA18974.hp1 NA18992.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0315 a0001c0001t0003g0324 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0315 a0001c0001t0003g0324 a0001c0001t0003g0331	4	380	0.0105	18	c.54 others(29): Show c.5470_*5471insTTATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2448		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11029223	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0204 a0002c0004t0016g0204	1	380	0.0026	18	c.3+1 others(33): Show c.3+14987_3+15004dupTTTTTTTTTTTTTTTTTT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043404	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp1 HG01256.hp1 others(27): Show HG00408.hp2 HG01106.hp1 HG01256.hp1 HG01496.hp1 HG02027.hp2 HG02056.hp1 HG02155.hp2 HG02698.hp2 HG02965.hp2 HG03017.hp1 HG03491.hp1 HG03927.hp1 HG04115.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18994.hp1 NA19057.hp1 NA19058.hp1 NA19067.hp2 NA19074.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0002t0002	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 others(27): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0006g0020 a0001c0001t0007g0052 a0001c0001t0011g0074 a0001c0001t0011g0099 a0001c0002t0002g0030	30	380	0.0790	18	c.3+8 others(29): Show c.3+806_3+823dupGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18952.hp1 NA18988.hp1 HG02056.hp1 NA18952.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123	3	380	0.0079	18	c.3+7 others(29): Show c.3+743_3+760dupGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110042850	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02148.hp2 HG02257.hp1 others(2): Show HG01175.hp1 HG02148.hp2 HG02257.hp1 HG02630.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0059 a0001c0001t0005 a0001c0001t0009 a0001c0001t0059	a0001c0001t0005g0062 a0001c0001t0005g0202 a0001c0001t0009g0023 others(2): Show a0001c0001t0005g0062 a0001c0001t0005g0202 a0001c0001t0009g0023 a0001c0001t0009g0157 a0001c0001t0059g0024	5	338	0.0148	18	c.84 others(29): Show c.8487_*8488insTTTTTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		2995		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110044270	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	338	0.0030	18	c.70 others(29): Show c.7067_*7068insTTTTTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		1575		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110061549	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	338	0.0030	18	c.222 others(35): Show c.222-1813_222-1796dupAAAAAAAAAAAAAAAAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084344	G G	GATATATG others(11): Show GATATATGATATATATCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp2 others(40): Show HG00140.hp1 HG00323.hp2 HG00609.hp2 HG01109.hp1 HG01361.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG02129.hp1 HG02523.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03491.hp1 HG03579.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18949.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19064.hp2 NA19074.hp1 NA19082.hp2 NA19084.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0001t0080 a0001c0001t0081 a0001c0002t0030	a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0002g0236 others(40): Show a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0002g0236 a0001c0001t0002g0288 a0001c0001t0004g0122 a0001c0001t0004g0145 a0001c0001t0004g0271 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0006g0088 a0001c0001t0006g0093 a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0130 a0001c0001t0006g0193 a0001c0001t0006g0222 a0001c0001t0006g0231 a0001c0001t0006g0278 a0001c0001t0006g0280 a0001c0001t0006g0296 a0001c0001t0006g0326 a0001c0001t0009g0073 a0001c0001t0011g0004 a0001c0001t0012g0085 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0013g0266 a0001c0001t0013g0283 a0001c0001t0022g0105 a0001c0001t0022g0106 a0001c0001t0024g0154 a0001c0001t0024g0245 a0001c0001t0025g0256 a0001c0001t0031g0294 a0001c0001t0031g0320 a0001c0001t0039g0090 a0001c0001t0040g0230 a0001c0001t0042g0058 a0001c0001t0046g0006 a0001c0001t0080g0104 a0001c0001t0081g0068 a0001c0002t0030g0248	43	338	0.1272	18	c.221 others(37): Show c.221+21152_221+21153insGCGATATATATCATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084563	G G	GATATATA others(11): Show GATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp2 NA18968.hp2 others(4): Show HG01884.hp2 HG03195.hp2 NA18968.hp2 NA18992.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0070	a0001c0001t0001g0241 a0001c0001t0001g0263 a0001c0001t0001g0279 others(4): Show a0001c0001t0001g0241 a0001c0001t0001g0263 a0001c0001t0001g0279 a0001c0001t0002g0061 a0001c0001t0002g0286 a0001c0001t0016g0114 a0001c0001t0070g0218	7	338	0.0207	18	c.221 others(37): Show c.221+20933_221+20934insATATATATAAATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084563	G G	GATATATA others(11): Show GATATATATTTTTATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0126 a0001c0001t0073g0126	1	338	0.0030	18	c.221 others(37): Show c.221+20933_221+20934insATATATAAAAATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084566	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0254 a0001c0001t0027g0254	1	338	0.0030	18	c.221 others(37): Show c.221+20930_221+20931insAAAATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084588	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0069 a0001c0001t0021g0069	1	338	0.0030	18	c.221 others(37): Show c.221+20908_221+20909insAAAATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar

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