Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF4G3_chr1_20801479_21181897	20814776	C C	CCCCTCCC others(23): Show CCCCTCCCCCTCCCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	312	0.0032	30	c.451 others(49): Show c.4516-1538_4516-1537insAGAGGGAGAGGGAGAGGGGGAGGGGG AGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814782	C C	CCCCTCCC others(23): Show CCCCTCCCCCTCCCCCTCCCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0297 a0001c0001t0012g0297	1	312	0.0032	30	c.451 others(49): Show c.4516-1544_4516-1543insAGAGGGAGAGGGGGAGGGGGAGGGGG AGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(23): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	312	0.0032	30	c.178 others(47): Show c.178-6649_178-6648insCCTCCCCTCCCCTCCCCTCCCCTCCCCT CC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(23): Show GGGAGGGGAGGGGAGGGGAGGGGAGAGGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02300.hp1 others(1): Show HG00639.hp1 HG01243.hp2 HG02300.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0008 a0001c0001t0002g0059 a0001c0001t0002g0088 others(1): Show a0001c0001t0002g0008 a0001c0001t0002g0059 a0001c0001t0002g0088 a0001c0001t0019g0093	4	312	0.0128	30	c.178 others(47): Show c.178-6674_178-6673insTCTCCTCTCCCCTCCCCTCCCCTCCCCT CC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20989081	G G	GGGAGGGG others(23): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	312	0.0032	30	c.178 others(47): Show c.178-6674_178-6673insTCTCCCCTCCCCTCCCCTCCCCTCCCCT CC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0178 a0001c0001t0006g0178	1	312	0.0032	30	c.-27 others(51): Show c.-271-28524_-271-28523insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF5B_chr2_99332389_99406326	99338922	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0299 a0001c0005t0002g0299	1	342	0.0029	30	c.35+ others(45): Show c.35+1334_35+1335insGTATATATATATATATATATATATATATAT	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF5B_chr2_99332389_99406326	99338993	A A	AATATATA others(23): Show AATATATATATACAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03927.hp2 HG01496.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0296 a0001c0005t0002g0297 a0001c0005t0002g0296 a0001c0005t0002g0297	2	342	0.0059	30	c.35+ others(45): Show c.35+1417_35+1418insAATATATATATATATATATATATATATACA	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF6_chr20_35273918_35289772	35277779	C C	CGGGCTCG others(23): Show CGGGCTCGGGCTGGGGCTGGGGCTGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	386	0.0052	30	c.14 others(41): Show c.1417_*1418insCAGCCCCAGCCCCAGCCCCAGCCCGAGCCC	EIF6	ENSG00000242372.9	transcript	ENST00000374450.8	protein_coding		1138		chr20	TogoVar
ELAC2_chr17_12986612_13023027	13022551	T T	TTCCTTCC others(23): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0035 a0002c0002t0005g0035	1	400	0.0025	30	c.-46 others(41): Show c.-4605_-4604insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4525		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113451	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	230	0.0044	30	c.-73 others(39): Show c.-733_-732insGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		663		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109138570	C C	CCAGCAGC others(23): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03710.hp1 HG00741.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0010 a0001c0001t0001 a0002c0003t0010	a0001c0001t0001g0123 a0002c0003t0010g0122 a0001c0001t0001g0123 a0002c0003t0010g0122	2	230	0.0087	30	c.154 others(49): Show c.154-23300_154-23299insCAGCAGCAGCAGCAGCAGCAGCAGCA GCAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	230	0.0044	30	c.154 others(49): Show c.154-17832_154-17831insATATATATATATATTTTTTTTTTTTT TTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02258.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0024 a0002c0003 a0001c0024 a0002c0003	a0001c0024t0001 a0002c0003t0011 a0001c0024t0001 a0002c0003t0011	a0001c0024t0001g0096 a0002c0003t0011g0097 a0001c0024t0001g0096 a0002c0003t0011g0097	2	230	0.0087	30	c.154 others(49): Show c.154-17832_154-17831insATATATATATATTTTTTTTTTTTTTT TTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG02135.hp2 others(2): Show HG00544.hp2 HG00621.hp2 HG02135.hp2 NA18612.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0040 a0001c0001t0007 a0001c0001t0010 a0001c0001t0040	a0001c0001t0007g0195 a0001c0001t0010g0154 a0001c0001t0010g0168 others(2): Show a0001c0001t0007g0195 a0001c0001t0010g0154 a0001c0001t0010g0168 a0001c0001t0010g0193 a0001c0001t0040g0179	5	276	0.0181	30	c.61 others(41): Show c.6123_*6124insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01975.hp2 NA18522.hp2 others(2): Show HG01070.hp1 HG01975.hp2 NA18522.hp2 NA19057.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0046 a0001c0001t0001g0115 a0001c0001t0001g0205 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0115 a0001c0001t0001g0205 a0001c0001t0001g0229 a0001c0001t0003g0182	5	352	0.0142	30	c.230 others(47): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50160582	C C	CAGATATT others(23): Show CAGATATTAGTGGTAGATCCAAGGCCAGAGA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	276	0.0036	30	c.250 others(49): Show c.250+15386_250+15415dupAGATATTAGTGGTAGATCCAAGGCCA GAGA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACAAAC others(23): Show TAACAAACATAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19079.hp2 NA19057.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0173 a0001c0001t0007g0283 a0001c0001t0002g0173 a0001c0001t0007g0283	2	342	0.0059	30	c.239 others(49): Show c.239-18848_239-18847insTATGTTATGTTATGTTATGTTATGTT TGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(23): Show TAACATAACAAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	342	0.0029	30	c.239 others(49): Show c.239-18848_239-18847insTATGTTATGTTATGTTATGTTTGTTA TGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(23): Show TAACATAACATAACAAACATAACATAACATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG03098.hp1 others(1): Show HG01257.hp2 HG01258.hp1 HG03098.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0002g0188 a0001c0001t0002g0189 others(1): Show a0001c0001t0001g0101 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0335	4	342	0.0117	30	c.239 others(49): Show c.239-18848_239-18847insTATGTTATGTTATGTTTGTTATGTTA TGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(23): Show TAACATAACATAACATAACAAACATAACATA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0002 a0001c0001t0012g0002	1	342	0.0029	30	c.239 others(49): Show c.239-18848_239-18847insTATGTTATGTTTGTTATGTTATGTTA TGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139134527	T T	TTATTGTA others(23): Show TTATTGTATTGTATTGTATTGTATTGTATTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	342	0.0029	30	c.72+ others(45): Show c.72+3102_72+3103insCAATACAATACAATACAATACAATACAATA	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	3/9			chr4	TogoVar
ELF4_chrX_130058955_130115497	130107278	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0156 a0001c0001t0026g0156	1	274	0.0037	30	c.-21 others(49): Show c.-210+3046_-210+3047insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELK3_chr12_96189375_96274824	96249715	T T	TGCCAGCC others(23): Show TGCCAGCCCTGTCTCAGAGGAAGTCAGCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(280): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19077.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0007 others(5): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0003c0003 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0004t0001 a0001c0007t0022 a0001c0008t0001 a0001c0011t0001 a0003c0003t0001 a0004c0006t0008 a0005c0009t0006	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(273): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0050 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0184 a0001c0001t0002g0328 a0001c0001t0002g0332 a0001c0001t0002g0336 a0001c0001t0002g0339 a0001c0001t0003g0020 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0152 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0337 a0001c0001t0004g0008 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0065 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0115 a0001c0001t0004g0125 a0001c0001t0004g0140 a0001c0001t0004g0145 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0179 a0001c0001t0004g0212 a0001c0001t0004g0299 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0305 a0001c0001t0004g0307 a0001c0001t0004g0320 a0001c0001t0005g0006 a0001c0001t0005g0024 a0001c0001t0005g0095 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0238 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0290 a0001c0001t0005g0304 a0001c0001t0005g0338 a0001c0001t0005g0340 a0001c0001t0005g0341 a0001c0001t0005g0342 a0001c0001t0006g0003 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0055 a0001c0001t0006g0135 a0001c0001t0006g0139 a0001c0001t0006g0190 a0001c0001t0006g0204 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0274 a0001c0001t0006g0288 a0001c0001t0006g0333 a0001c0001t0007g0001 a0001c0001t0007g0051 a0001c0001t0007g0114 a0001c0001t0007g0126 a0001c0001t0007g0165 a0001c0001t0007g0211 a0001c0001t0007g0287 a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0008g0096 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0008g0099 a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0008g0284 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0009g0016 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0009g0019 a0001c0001t0010g0119 a0001c0001t0010g0234 a0001c0001t0010g0254 a0001c0001t0010g0258 a0001c0001t0010g0301 a0001c0001t0011g0031 a0001c0001t0011g0080 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0013g0011 a0001c0001t0013g0012 a0001c0001t0014g0231 a0001c0001t0016g0214 a0001c0001t0017g0127 a0001c0001t0018g0250 a0001c0001t0019g0086 a0001c0001t0020g0181 a0001c0001t0021g0325 a0001c0001t0023g0239 a0001c0001t0025g0309 a0001c0004t0001g0189 a0001c0007t0022g0103 a0001c0008t0001g0281 a0001c0011t0001g0222 a0003c0003t0001g0246 a0003c0003t0001g0247 a0004c0006t0008g0100 a0005c0009t0006g0069	283	354	0.7994	30	c.100 others(49): Show c.1002+1993_1002+2022dupCTCAGAGGAAGTCAGCTCAGCCAGCC CTGT	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(23): Show TACACACACACGTGTGTATATAGACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0155 a0004c0009t0003g0155	1	314	0.0032	30	c.196 others(47): Show c.196-7856_196-7855insGTGTGTGTCTATATACACACGTGTGTGT GT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(23): Show TACACACACACGTGTGTATATAGACACATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19072.hp2 HG00609.hp2 NA19072.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0003 a0004c0009t0003 a0001c0001t0003 a0004c0009t0003	a0001c0001t0003g0176 a0004c0009t0003g0194 a0001c0001t0003g0176 a0004c0009t0003g0194	2	314	0.0064	30	c.196 others(47): Show c.196-7856_196-7855insGTATGTGTCTATATACACACGTGTGTGT GT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(23): Show TACACACACACGTGTGTATATATAGACATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	314	0.0032	30	c.196 others(47): Show c.196-7856_196-7855insGTATGTCTATATATACACACGTGTGTGT GT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927688	C C	CGTGTGTA others(23): Show CGTGTGTATATAGACATACACACACACATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03225.hp1 NA18964.hp2 others(2): Show HG01123.hp1 HG03225.hp1 NA18964.hp2 NA18982.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0273 others(2): Show a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0279	5	314	0.0159	30	c.196 others(47): Show c.196-8173_196-8144dupATATGTGTGTGTGTATGTCTATATACAC AC	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELMO1_chr7_36847906_37453864	36897336	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 NA19240.hp1 HG02886.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0006 a0001c0001t0008g0059 a0001c0001t0008g0092 a0001c0001t0005g0006 a0001c0001t0008g0059 a0001c0001t0008g0092	3	92	0.0326	30	c.143 others(49): Show c.1438-2320_1438-2319insTACACACACACACACACACACACACA CACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01978.hp1 HG02896.hp2 others(3): Show HG01261.hp2 HG01978.hp1 HG02896.hp2 HG03195.hp1 HG03195.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0002t0003 a0001c0003t0002	a0001c0001t0001g0085 a0001c0001t0003g0072 a0001c0001t0017g0012 others(3): Show a0001c0001t0001g0085 a0001c0001t0003g0072 a0001c0001t0017g0012 a0001c0002t0003g0077 a0001c0003t0002g0020 a0001c0003t0002g0035	6	92	0.0652	30	c.108 others(51): Show c.1087-28701_1087-28672dupATATATATATATATATATATATAT ATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(23): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18977.hp1 NA19086.hp1 NA18944.hp1 NA18977.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0056 a0001c0001t0004g0211 a0001c0001t0004g0236 a0001c0001t0003g0056 a0001c0001t0004g0211 a0001c0001t0004g0236	3	312	0.0096	30	c.-47 others(41): Show c.-4772_-4771insACACACACACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGCG others(23): Show GGGGGGCGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	312	0.0032	30	c.-47 others(41): Show c.-4772_-4771insACACACACACACACACACACACCCGCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(23): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 NA18945.hp2 HG01081.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0109 a0001c0001t0003g0070 a0001c0001t0001g0109 a0001c0001t0003g0070	2	312	0.0064	30	c.-47 others(41): Show c.-4774_-4773insACACACACACACACACACACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOA_chr1_23738471_23767059	23758251	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0167 a0002c0003t0001g0167	1	400	0.0025	30	c.225 others(49): Show c.2257+1129_2257+1130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOVL2_chr6_10975759_11049305	10978306	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	1	380	0.0026	30	c.54 others(41): Show c.5474_*5475insTTATATATATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2452		chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp1 HG01952.hp2 others(10): Show HG00323.hp1 HG01358.hp1 HG01952.hp2 HG01993.hp2 HG02148.hp2 HG02735.hp1 HG03654.hp1 HG03654.hp2 NA18612.hp1 NA18980.hp1 NA19070.hp2 NA19074.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(10): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0007g0061 a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0013g0068 a0001c0001t0014g0063	13	380	0.0342	30	c.3+7 others(41): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084419	T T	TATATCAC others(23): Show TATATCACATATATCATATATGATATATCGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	338	0.0030	30	c.221 others(49): Show c.221+21048_221+21077dupGCGATATATCATATATGATATATGTG ATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084424	C C	CGCATATA others(23): Show CGCATATATCATATATGATATATCGCATATA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0214 a0001c0001t0064g0214	1	338	0.0030	30	c.221 others(49): Show c.221+21072_221+21073insTATATGCGATATATCATATATGATAT ATGC	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(23): Show ACATATATCATATATGATATATCACATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01070.hp2 others(22): Show HG00438.hp2 HG00544.hp2 HG01070.hp2 HG01346.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp1 NA18945.hp1 NA18964.hp2 NA18970.hp1 NA18984.hp2 NA18985.hp1 NA19000.hp2 NA19002.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0048 a0001c0001t0049 a0001c0001t0061 a0001c0001t0071	a0001c0001t0001g0199 a0001c0001t0003g0050 a0001c0001t0003g0051 others(22): Show a0001c0001t0001g0199 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0188 a0001c0001t0003g0198 a0001c0001t0003g0221 a0001c0001t0003g0255 a0001c0001t0003g0259 a0001c0001t0003g0310 a0001c0001t0003g0313 a0001c0001t0003g0318 a0001c0001t0010g0181 a0001c0001t0010g0187 a0001c0001t0010g0269 a0001c0001t0010g0317 a0001c0001t0010g0322 a0001c0001t0048g0081 a0001c0001t0049g0097 a0001c0001t0061g0083 a0001c0001t0071g0075	25	338	0.0740	30	c.221 others(49): Show c.221+21071_221+21072insATATATGTGATATATCATATATGATA TATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084425	A A	ACATATAT others(23): Show ACATATATCATATATGATATATCGCATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(60): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02083.hp1 HG02148.hp2 HG02630.hp2 HG02738.hp1 HG02738.hp2 HG03492.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 NA18943.hp1 NA18946.hp1 NA18955.hp1 NA18981.hp1 NA18982.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19002.hp2 NA19058.hp2 NA19085.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0001t0032 a0001c0001t0036 a0001c0001t0047 a0001c0001t0060 a0001c0001t0063 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(60): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0128 a0001c0001t0001g0146 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0293 a0001c0001t0001g0300 a0001c0001t0001g0307 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0002g0140 a0001c0001t0002g0332 a0001c0001t0003g0175 a0001c0001t0005g0062 a0001c0001t0005g0202 a0001c0001t0005g0215 a0001c0001t0005g0225 a0001c0001t0005g0262 a0001c0001t0005g0323 a0001c0001t0006g0200 a0001c0001t0006g0324 a0001c0001t0012g0184 a0001c0001t0012g0185 a0001c0001t0017g0133 a0001c0001t0017g0137 a0001c0001t0017g0170 a0001c0001t0017g0223 a0001c0001t0023g0166 a0001c0001t0023g0167 a0001c0001t0032g0163 a0001c0001t0032g0173 a0001c0001t0036g0001 a0001c0001t0047g0333 a0001c0001t0060g0311 a0001c0001t0063g0335 a0001c0001t0065g0253 a0001c0001t0067g0055 a0001c0001t0068g0282	63	338	0.1864	30	c.221 others(49): Show c.221+21042_221+21071dupATATATGCGATATATCATATATGATA TATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084426	C C	CATATATC others(23): Show CATATATCATATATGATATATCACATATATG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00735.hp2 others(100): Show HG00558.hp2 HG00597.hp1 HG00735.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03942.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA18992.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0034 a0001c0001t0037 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078	a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(100): Show a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0182 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0303 a0001c0001t0002g0032 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0142 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0314 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0292 a0001c0001t0004g0122 a0001c0001t0005g0134 a0001c0001t0005g0312 a0001c0001t0006g0194 a0001c0001t0007g0013 a0001c0001t0007g0048 a0001c0001t0007g0052 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0158 a0001c0001t0007g0160 a0001c0001t0007g0171 a0001c0001t0007g0250 a0001c0001t0007g0291 a0001c0001t0009g0157 a0001c0001t0011g0045 a0001c0001t0011g0047 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0014g0014 a0001c0001t0014g0025 a0001c0001t0014g0111 a0001c0001t0014g0150 a0001c0001t0015g0227 a0001c0001t0016g0098 a0001c0001t0016g0112 a0001c0001t0016g0114 a0001c0001t0016g0177 a0001c0001t0018g0040 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0019g0124 a0001c0001t0019g0229 a0001c0001t0019g0328 a0001c0001t0021g0018 a0001c0001t0021g0069 a0001c0001t0021g0107 a0001c0001t0022g0017 a0001c0001t0027g0254 a0001c0001t0034g0026 a0001c0001t0034g0043 a0001c0001t0037g0002 a0001c0001t0043g0038 a0001c0001t0044g0100 a0001c0001t0045g0204 a0001c0001t0050g0039 a0001c0001t0051g0143 a0001c0001t0052g0191 a0001c0001t0053g0237 a0001c0001t0054g0284 a0001c0001t0055g0063 a0001c0001t0056g0297 a0001c0001t0057g0109 a0001c0001t0059g0024 a0001c0001t0062g0116 a0001c0001t0070g0218 a0001c0001t0072g0252 a0001c0001t0073g0126 a0001c0001t0074g0015 a0001c0001t0075g0074 a0001c0001t0076g0080 a0001c0001t0078g0099	103	338	0.3047	30	c.221 others(49): Show c.221+21070_221+21071insCATATATGTGATATATCATATATGAT ATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084563	G G	GATATATA others(23): Show GATATATATTTATATTTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	338	0.0030	30	c.221 others(49): Show c.221+20933_221+20934insATATATATATATATAAATATAAATAT ATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0047 a0001c0001t0011g0047	1	338	0.0030	30	c.90- others(47): Show c.90-12276_90-12275insATATATATATATATATATATATTTTTTT TT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELSPBP1_chr19_47989632_48030154	48025655	A A	ACCTCCTT others(23): Show ACCTCCTTCTCCTCCTCCCTCTCCTTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01358.hp2 HG02055.hp1 others(23): Show HG01106.hp1 HG01358.hp2 HG02055.hp1 HG02165.hp1 HG02486.hp2 HG02572.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03471.hp1 HG03490.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18952.hp1 NA18954.hp1 NA18978.hp2 NA18979.hp1 NA18988.hp2 NA19000.hp2 NA19012.hp1 NA19074.hp2 NA19084.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0004c0004t0002	a0001c0001t0001g0030 a0001c0001t0001g0120 a0001c0001t0001g0264 others(23): Show a0001c0001t0001g0030 a0001c0001t0001g0120 a0001c0001t0001g0264 a0002c0002t0001g0099 a0002c0002t0001g0118 a0002c0002t0001g0330 a0004c0004t0001g0032 a0004c0004t0001g0036 a0004c0004t0001g0039 a0004c0004t0001g0041 a0004c0004t0001g0045 a0004c0004t0001g0058 a0004c0004t0001g0077 a0004c0004t0001g0094 a0004c0004t0001g0095 a0004c0004t0001g0271 a0004c0004t0001g0306 a0004c0004t0001g0320 a0004c0004t0001g0371 a0004c0004t0001g0375 a0004c0004t0001g0376 a0004c0004t0002g0034 a0004c0004t0002g0130 a0004c0004t0002g0184 a0004c0004t0002g0222 a0004c0004t0002g0234	26	388	0.0670	30	c.71 others(39): Show c.711_*712insCCTCCTTCTCCTCCTCCCTCTCCTTCTCCT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		502		chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0196 a0002c0002t0002g0196	1	388	0.0026	30	c.35 others(41): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(23): Show CACACACACACACACACACACACATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	410	0.0024	30	c.356 others(47): Show c.356+2088_356+2089insATATATATGTGTGTGTGTGTGTGTGTGT GT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMILIN2_chr18_2842006_2921003	2858549	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0134 a0001c0002t0006g0134	1	452	0.0022	30	c.257 others(49): Show c.257+10639_257+10640insATATATGTGTATATATATATATATAT ATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGGTGGT others(23): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	288	0.0035	30	c.190 others(49): Show c.1909+7151_1909+7152insATGGTGGTGATGGTGGTGGTGGTGGT GGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928029	G G	GTGGTGGT others(23): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0194 a0003c0002t0001g0194	1	288	0.0035	30	c.190 others(49): Show c.1909+7160_1909+7161insATGGTGGTGGTGGTGGTGGTGATGGT GGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02723.hp1 HG03209.hp2 others(2): Show HG00323.hp1 HG02723.hp1 HG03209.hp2 NA19082.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0005t0014 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0005t0014 a0003c0003t0004	a0001c0001t0002g0216 a0001c0001t0002g0272 a0001c0001t0005g0309 others(2): Show a0001c0001t0002g0216 a0001c0001t0002g0272 a0001c0001t0005g0309 a0001c0005t0014g0349 a0003c0003t0004g0287	5	358	0.0140	30	c.26- others(43): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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