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
DOCK1_chr10_126900428_127457516	126947654	G G	GGTGGTTG others(95): Show GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0004 a0003c0026t0004	a0003c0026t0004g0099 a0003c0026t0004g0099	1	124	0.0081	102	c.47- others(119): Show c.47-23046_47-23045insGGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTAGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947680	A A	ATGGTGGT others(95): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGA TGG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0015	a0001c0008t0015g0039 a0001c0008t0015g0039	1	47	0.0213	102	c.47- others(119): Show c.47-23015_47-23014insGGTTGGTAGTATTACTGTTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947821	G G	GGTGGTTG others(95): Show GGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0101 a0001c0006t0001g0101	1	127	0.0079	102	c.47- others(119): Show c.47-22879_47-22878insGGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTAGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948274	T T	TTGGTGAT others(95): Show TTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0131 a0002c0029t0001g0131	1	131	0.0076	102	c.47- others(119): Show c.47-22423_47-22422insATGGTGGTAGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127428414	G G	GCCGTGTG others(95): Show GCCGTGTGAATTGGGGTGCCGTGTGAATTGGAGTGCCTTGTGGATTGGGG TGCCGTGTGGATTGGGGTGTCATGTGGATTGGGGTGCCATGTGGATTGGG GTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02698.hp1 HG02738.hp1 HG01123.hp1 HG02698.hp1 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0017 a0001c0001 a0002c0017	a0001c0001t0002 a0002c0017t0002 a0002c0017t0005 a0001c0001t0002 a0002c0017t0002 a0002c0017t0005	a0001c0001t0002g0021 a0002c0017t0002g0136 a0002c0017t0005g0100 a0001c0001t0002g0021 a0002c0017t0002g0136 a0002c0017t0005g0100	3	134	0.0224	102	c.491 others(121): Show c.4914+2488_4914+2489insCCATGTGGATTGGGGTACCGTGTGAA TTGGGGTGCCGTGTGAATTGGAGTGCCTTGTGGATTGGGGTGCCGTGTGG ATTGGGGTGTCATGTGGATTGGGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	47/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127428966	C C	CGGGTACC others(95): Show CGGGTACCATGTGGATTGGGGTGCCGTGTGGATTGGGATGCCGTGTGGAT TGGGGTGCCGTGTGGATTGGGGTGTCATGTGGATTGGGGTGCTGTGTGGA TTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0082 a0002c0023t0001g0082	1	134	0.0075	102	c.491 others(121): Show c.4914+2996_4914+3097dupCGTGTGGATTGGGGTGCCGTGTGGAT TGGGGTGTCATGTGGATTGGGGTGCTGTGTGGATTGGGGTACCATGTGGA TTGGGGTGCCGTGTGGATTGGGATGC	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	47/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127428974	A A	ATGTGGAT others(95): Show ATGTGGATTGGGGTGCCGTGTGGATTGGGATGCCGTGTGGATTGGGGTGC CGTGTGGATTGGGGTGTCATGTGGATTGGGGTGCTGTGTGGATTGGGGTG CCG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	51	0.0196	102	c.491 others(121): Show c.4914+3061_4914+3062insGCCGTGTGGATTGGGGTGCCGTGTGG ATTGGGATGCCGTGTGGATTGGGGTGCCGTGTGGATTGGGGTGTCATGTG GATTGGGGTGCTGTGTGGATTGGGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	47/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400360	A A	ACCACCAC others(95): Show ACCACCACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCAC CTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCA CCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0006 a0001c0045t0006	a0001c0045t0006g0063 a0001c0045t0006g0063	1	247	0.0040	102	c.323 others(121): Show c.3234+1104_3234+1105insCCACCACCACCTCCACCACCACCACC TCCACCATCACCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCACCTCCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400698	C C	CCACCACC others(95): Show CCACCACCATCACCATCACCACCTCCTTCACCATCACCACCACCACCACC ACCTCCACCATCACCACCGTCACCACCTTCTCCACCACCACCATCTTCAC CAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0023 a0023	a0023c0101 a0023c0101	a0023c0101t0004 a0023c0101t0004	a0023c0101t0004g0054 a0023c0101t0004g0054	1	142	0.0070	102	c.323 others(121): Show c.3234+1447_3234+1448insTCACCATCACCACCTCCTTCACCATC ACCACCACCACCACCACCTCCACCATCACCACCGTCACCACCTTCTCCAC CACCACCATCTTCACCATCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400868	A A	ACCACCAC others(95): Show ACCACCACCTCCCCCACCACCACCTCCACCATCACCACCTCCCCCACCAC CACCTCCACCACCACCACCTCCCCCACCACCACCTCCACCACCACCACCT CCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0152 a0003c0001t0001g0152	1	250	0.0040	102	c.323 others(121): Show c.3234+1609_3234+1610insCCACCACCTCCCCCACCACCACCTCC ACCATCACCACCTCCCCCACCACCACCTCCACCACCACCACCTCCCCCAC CACCACCTCCACCACCACCACCTCCC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOCK8_chr9_209865_470255	400949	A A	ACCACCTT others(95): Show ACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCCTGCC CACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACTACCT CCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	224	0.0045	102	c.323 others(121): Show c.3234+1695_3234+1696insTTCTCCACCACCACCATCTTCACCAC CACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCA CCTCCAATATCACTACCTCCTCCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619681	A A	AGCCCCCT others(95): Show AGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0049 a0003c0004t0002g0050 a0003c0004t0002g0049 a0003c0004t0002g0050	2	242	0.0083	102	c.-10 others(121): Show c.-107+5962_-107+5963insGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPP6_chr7_154047398_154899285	154749408	A A	AGCGAGGG others(95): Show AGCGAGGGTGAGAGAGCATAGGACGGGAGAGAGAGGGATGGAGGCTTTAC TGAGAGAGGGTGAGGGAGCATAGGACGGGAAAGAGGGATGGAGGCTTTAC TGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02280.hp2 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0002c0022 a0001c0021 a0002c0022	a0001c0021t0011 a0002c0022t0023 a0001c0021t0011 a0002c0022t0023	a0001c0021t0011g0022 a0002c0022t0023g0027 a0001c0021t0011g0022 a0002c0022t0023g0027	2	37	0.0541	102	c.884 others(121): Show c.884-20008_884-20007insCGAGGGTGAGAGAGCATAGGACGGGA GAGAGAGGGATGGAGGCTTTACTGAGAGAGGGTGAGGGAGCATAGGACGG GAAAGAGGGATGGAGGCTTTACTGTG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP9_chr19_4670227_4728842	4672082	T T	TGTGAATA others(95): Show TGTGAATATATATATTCATATATTCACATATGTGAATATATGAATATATA TATTCATATATTCACATATGTGAATATATATATTCATATATTCACATATG TGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG04115.hp2 HG03834.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0288 a0001c0001t0001g0293	2	241	0.0083	102	c.44 others(113): Show c.4481_*4482insTCACATATGTGAATATATGAATATATATATTCAC ATATGTGAATATATGAATATATATATTCATATATTCACATATGTGAATAT ATGAATATATATATTCAC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3144		chr19	TogoVar
DTD1_chr20_18583054_18771644	18708224	T T	TATATTAT others(95): Show TATATTATATATATTATATATATATTATATATATATTAAATATATATTAC ATATATATTATATATATTATATATATATTATATATATATTAAATATATAT TAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00099.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0119 a0001c0001t0002g0120	2	306	0.0065	102	c.478 others(121): Show c.478-35872_478-35871insTATATATATTATATATATATTATATA TATATTAAATATATATTACATATATATTATATATATTATATATATATTAT ATATATATTAAATATATATTACATAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(95): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	122	0.0082	102	c.-49 others(113): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172122	C C	CGGGGGCG others(95): Show CGGGGGCGCGCGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGG CGGGGGGCGCGCGGGGGCGGGGGGCGCGCGGGGGCGGGGGGCGCGCGGGG GCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	393	0.0025	102	c.-46 others(113): Show c.-4680_-4679insCGCCCCCGCGCGCCCCCCGCCCCCGCGCGCCCCC CGCCCCCGCGCGCCCCCCGCCCCCGCGCGCCCCCGCCCCCGCGCGCCCCC GCCCCCGCGCGCGCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4638		chr19	TogoVar
DYM_chr18_49031387_49465645	49440994	A A	ATAATATA others(95): Show ATAATATATATATTTATATAAATATATTATATATTATATAATATATTATA TAATATATAATATATTTATATAAATATATTATATTTTATATATTATATAT AAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG02015.hp2 others(3): Show HG00408.hp2 HG00423.hp1 HG02015.hp2 HG02027.hp2 NA18950.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0144 a0001c0001t0010g0272 a0001c0001t0010g0273 others(3): Show a0001c0001t0010g0144 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0018g0143	6	207	0.0290	102	c.-53 others(121): Show c.-53-10548_-53-10547insATTATATATAATATATAAAATATAAT ATATTTATATAAATATATTATATATTATATAATATATTATATAATATATA ATATATTTATATAAATATATATATTA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EBF2_chr8_25836725_26050413	26005293	A A	ATTATAAT others(95): Show ATTATAATTATATATTATATATTATATATAATTATATAATTATATATAAT ATATATTATATATAATATATAATTATATAATTATATATAATATATAATTA TAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0129 a0001c0004t0001g0129	1	212	0.0047	102	c.551 others(121): Show c.551+27791_551+27792insATATAATTATATATTATATATAATTA TATAATTATATATTATATATAATATATATTATATATAATTATATAATTAT ATATAATATATAATATATAATTATAA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EDA_chrX_69611113_70044472	69645584	T T	TTATATAT others(95): Show TTATATATATATATATATATATATATATATATATATATATATATGTGTGT ATATATATATATGTGTGTATATATATATATGTGTGTATATATATATATGT GTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	48	0.0208	102	c.396 others(121): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATATATGTGTGTATATATATATATGTGTGTATATATATATATGTGTGT ATATATATATATGTGTGTATATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69645586	A A	ATATATAT others(95): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATGTGTATATATATATATATATATATGTGTATATATATATATATATATAT GTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0132 a0001c0001t0001g0133	2	219	0.0091	102	c.396 others(121): Show c.396+28889_396+28890insATATATATATATATATATATATATAT ATATATATATATATATATGTGTATATATATATATATATATATGTGTATAT ATATATATATATATATGTGTATATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNA5_chr5_107371894_107675937	107476047	T T	TATATATA others(95): Show TATATATATATATACATATATATATATATATATATATATATGTATACATA TATATATGTATATATATATATATACATATATATATGTATATATATATGTA TAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0170 a0001c0001t0061g0170	1	162	0.0062	102	c.126 others(121): Show c.126-48539_126-48538insGTATACATATATATATACATATATAT ATGTATATATATATATATACATATATATATGTATACATATATATATATAT ATATATATATATGTATATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476047	T T	TATATATA others(95): Show TATATATATATGTATACATATATATATATATATATATATGTATACATATA TATATGTATATATATATATATACATATATATATATGTATATATATATGTA TAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0095 a0001c0001t0055g0095	1	162	0.0062	102	c.126 others(121): Show c.126-48539_126-48538insGTATACATATATATATACATATATAT ATATGTATATATATATATATACATATATATATGTATACATATATATATAT ATATATATATGTATACATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107476047	T T	TATATATA others(95): Show TATATATATATGTATACATATATATATGTATATATATATGTATACATATA TATATGTATATATATATGTATACATATATATATATGTATATATATATGTA TAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03225.hp1 NA18906.hp1 HG02559.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0050 a0001c0001t0002 a0001c0001t0015 a0001c0001t0050	a0001c0001t0002g0090 a0001c0001t0015g0145 a0001c0001t0050g0108 a0001c0001t0002g0090 a0001c0001t0015g0145 a0001c0001t0050g0108	3	164	0.0183	102	c.126 others(121): Show c.126-48539_126-48538insGTATACATATATATATACATATATAT ATATGTATACATATATATATACATATATATATGTATACATATATATATAC ATATATATATGTATACATATATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EIF2B3_chr1_44845522_44991595	44942380	T T	TATATATA others(95): Show TATATATATATATGTGTGTATATATATATGTATATATATATATATACATA TATATATACACATATATATATACACATATATATACATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	310	0.0032	102	c.295 others(117): Show c.295-716_295-715insGTATATATATATATATATGTATATATATGT GTATATATATATGTGTATATATATATGTATATATATATATATACATATAT ATATACACACATATATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942382	T T	TATATATA others(95): Show TATATATATATGTGTGTATATATATATGTATATATATATATATACATATA TATATACACATATATATATACACATATATATACATATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02109.hp1 HG01069.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0304 a0001c0001t0001g0277 a0001c0001t0001g0304	2	318	0.0063	102	c.295 others(117): Show c.295-718_295-717insGTATATATATATATATATATGTATATATAT GTGTATATATATATGTGTATATATATATGTATATATATATATATACATAT ATATATACACACATATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942384	T T	TATATATA others(95): Show TATATATATGTGTGTATATATATATGTATATATATATATATACATATATA TATACACATATATATATACACATATATATACATATATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	320	0.0031	102	c.295 others(117): Show c.295-720_295-719insGTATATATATATATATATATATGTATATAT ATGTGTATATATATATGTGTATATATATATGTATATATATATATATACAT ATATATATACACACATATATAT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF4A3_chr17_80129369_80152128	80147048	T T	TGCGCCGC others(95): Show TGCGCCGCTGCCGACCTCGCTGCGCCGCTGCCGACCTCGCTGCGCCGCTG CCGACCTCGCTGCGCCGCTGCCGACCTCGCTGCGCCGCTGCCGACCTCGC TGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0203 a0001c0001t0057g0203	1	418	0.0024	102	c.-88 others(109): Show c.-88_-87insGCAGCGAGGTCGGCAGCGGCGCAGCGAGGTCGGCAGCG GCGCAGCGAGGTCGGCAGCGGCGCAGCGAGGTCGGCAGCGGCGCAGCGAG GTCGGCAGCGGCGC	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	88		chr17	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(95): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGG AGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG02818.hp2 others(8): Show HG01891.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0012 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0012 a0001c0004t0001 a0001c0004t0014	a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080 others(8): Show a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0012g0295 a0001c0004t0001g0092 a0001c0004t0014g0090	11	114	0.0965	102	c.178 others(119): Show c.178-6649_178-6648insCCTCCCCTCCCCTCCCCTCCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109113390	C C	CAGAGAGA others(95): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GACCCTGTCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0018 a0003c0004t0018	a0003c0004t0018g0108 a0003c0004t0018g0108	1	221	0.0045	102	c.-79 others(111): Show c.-794_-793insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGACCCTGTCAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		724		chr1	TogoVar
ELL2_chr5_95880098_95966851	95927400	T T	TACACACA others(95): Show TACACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGA CATACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACA TAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	177	0.0056	102	c.196 others(119): Show c.196-7856_196-7855insGTATGTCTATATACACACGTGTGTGTAT GTCTATATACACACGTGTGTGTATGTCTATATACACACGTGTGTGTGTAT GTCTATATACACACGTGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927524	T T	TACACACA others(95): Show TACACACACGTGTGTATATAGACATACACACACGTGTGTATATAGACATA CACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03490.hp1 HG03492.hp1 others(1): Show HG00642.hp2 HG03490.hp1 HG03492.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0275 a0001c0001t0002g0295 a0001c0001t0002g0010 a0001c0001t0002g0275 a0001c0001t0002g0295	4	248	0.0161	102	c.196 others(119): Show c.196-7980_196-7979insGTATGTCTATATACACACGTGTGTGTGT ATGTCTATATACACACGTGTGTGTGTATGTCTATATACACACGTGTGTGT ATGTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927688	C C	CGTGTGTA others(95): Show CGTGTGTATATAGACATACACACACACGTGTGTATAGACATACACACACA CGTGTGTATAGACATACACACACACGTGTGTGTATAGACATACACACACA CGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	101	0.0099	102	c.196 others(119): Show c.196-8144_196-8143insACGTGTGTGTGTATGTCTATACACACAC GTGTGTGTGTATGTCTATACACACGTGTGTGTGTATGTCTATACACACGT GTGTGTGTATGTCTATATACACAC	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927706	C C	CACACACA others(95): Show CACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACA TACACACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGA CAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	142	0.0070	102	c.196 others(119): Show c.196-8162_196-8161insATGTCTATATACACACGTGTGTGTGTAT GTCTATATACACACGTGTGTGTGTATGTCTATATACACACGTGTGTGTGT ATGTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELP1_chr9_108862517_108939124	108900756	A A	ACACACAC others(95): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GCCACACACACATACACGCCACACACACATACACGCCACACACACATACA CGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18961.hp2 HG03041.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0323 a0001c0002t0001g0222 a0001c0001t0002g0323 a0001c0002t0001g0222	2	120	0.0167	102	c.201 others(119): Show c.2015-483_2015-382dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGT GTGTGTGGCGTGTATGTGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(95): Show GACTCCTGGGGGGAAACCTAAACCCCCTTCCATCTGGAAGGTTTGGAGCT TCCACCGCTGAGAAGGAAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGGC AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	3	0.3333	102	c.11 others(115): Show c.11394_*11395insACTCCTGGGGGGAAACCTAAACCCCCTTCCAT CTGGAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAAGGGAGTCG GTGGAGTGGAAGGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EML1_chr14_99788413_99947060	99928006	A A	AGGTGGTG others(95): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGATGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGT GGT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19005.hp1 NA18957.hp1 NA19005.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0185 a0002c0001t0003g0186 a0002c0001t0003g0185 a0002c0001t0003g0186	2	176	0.0114	102	c.190 others(121): Show c.1909+7158_1909+7159insAGGTGGTGGTGGTGATGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EPDR1_chr7_37915640_37956936	37936007	T T	TATATATA others(95): Show TATATATATATATATATATACACACACATATATATATATATACACATATA TATATATACACATATATATATACACATATATATATATATATATATACACA CAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	445	0.0022	102	c.270 others(121): Show c.270-12814_270-12813insCACACACATATATATATATATACACA TATATATATATACACATATATATATACACATATATATATATATATATATA CACACACATATATATATATATATATA	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHB1_chr3_134790260_135265467	135192301	A A	AAAAACAA others(95): Show AAAAACAAACTCACATATATTCTGAAATTCCACTTAAAACAAACTCACAT ATATTCTGAAATTCCACTTAAAACAAACTCACATATATTCTGAAATTCCA CTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG03041.hp2 others(4): Show HG02809.hp2 HG02896.hp2 HG03041.hp2 HG03098.hp2 HG03471.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0004t0003 a0001c0004t0009 a0001c0010t0008	a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0002g0084 others(4): Show a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0002g0084 a0001c0004t0002g0131 a0001c0004t0003g0104 a0001c0004t0009g0023 a0001c0010t0008g0105	7	20	0.3500	102	c.188 others(119): Show c.1883-241_1883-240insAAAACAAACTCACATATATTCTGAAATT CCACTTAAAACAAACTCACATATATTCTGAAATTCCACTTAAAACAAACT CACATATATTCTGAAATTCCACTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ERBB4_chr2_211370717_212543802	212249437	T T	TAGAAAAG others(95): Show TAGAAAAGATAGGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAAAAAGAAAAAAAAAAAAAACAAACCTCAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	43	0.0233	102	c.83- others(121): Show c.83-124535_83-124534insTTTTTTTTTTTTTTTTTTTTTTTGAG GTTTGTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTATTATACTCTAAGTT TTAGGGTACATGTGCCTATCTTTTCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212249437	T T	TAGAAAAG others(95): Show TAGAAAAGATAGGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAAAAAGAAAAAAAAAAAAACAAACCTCAAAAAAAAAAAAAAAAAAAAA AAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp2 HG02258.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0047 a0001c0002t0001g0048 a0001c0001t0002g0047 a0001c0002t0001g0048	2	44	0.0455	102	c.83- others(121): Show c.83-124535_83-124534insTTTTTTTTTTTTTTTTTTTTTTTTGA GGTTTGTTTTTTTTTTTTTCTTTTTTTTTTTTTTTATTATACTCTAAGTT TTAGGGTACATGTGCCTATCTTTTCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERFL_chr19_41902704_41933449	41914569	G G	GTCTCTCC others(95): Show GTCTCTCCCTCCCCCTCCACCATCTCTGTCTCTCCCTCCCCCTCCACCAT CTCTGTCTCTCCCTCCCCCTCCACCATCTCTGTCTCTCCCTCCCCCTCCA CCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	309	0.0032	102	c.-13 others(119): Show c.-13-1638_-13-1637insTGGTGGAGGGGGAGGGAGAGACAGAGAT GGTGGAGGGGGAGGGAGAGACAGAGATGGTGGAGGGGGAGGGAGAGACAG AGATGGTGGAGGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERICH6B_chr13_45536294_45620739	45540162	T T	TCAGGGTT others(95): Show TCAGGGTTGGAGAGAGCCTCTGGGGCTGTGCAGGAAGCGTGTGGGATCCA GGCAGGGTTGGAGAGAGCCTCTGGGGCTGTGCAGGAAGCGTGTGGGATCC AGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02896.hp2 others(3): Show HG02622.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 NA18970.hp2 NA19030.hp1	a0001 a0009 a0017 a0001 a0009 a0017	a0001c0001 a0009c0011 a0017c0018 a0001c0001 a0009c0011 a0017c0018	a0001c0001t0001 a0009c0011t0001 a0017c0018t0001 a0001c0001t0001 a0009c0011t0001 a0017c0018t0001	a0001c0001t0001g0205 a0009c0011t0001g0283 a0009c0011t0001g0289 others(2): Show a0001c0001t0001g0205 a0009c0011t0001g0283 a0009c0011t0001g0289 a0009c0011t0001g0295 a0017c0018t0001g0020	6	321	0.0187	102	c.12 others(113): Show c.1299_*1300insCCTGGATCCCACACGCTTCCTGCACAGCCCCAGA GGCTCTCTCCAACCCTGCCTGGATCCCACACGCTTCCTGCACAGCCCCAG AGGCTCTCTCCAACCCTG	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding		1131		chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45540191	G G	GCAGGAAG others(95): Show GCAGGAAGCGTGTGGGATCCAGGCAGGGTTGGAGAGAGCCTCTGGGGCTG TGCAGGAAGCGTGTGGGATCCAGGCAGGGTTGGAGAGAGCCTCTGGGGCT GTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(35): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG01255.hp2 HG01433.hp2 HG01943.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02630.hp1 HG02683.hp2 HG02723.hp1 HG02965.hp2 HG03471.hp1 HG03540.hp2 HG03710.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18951.hp2 NA18960.hp2 NA18962.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA19003.hp2 NA19043.hp2 NA19091.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0012 a0016	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0007c0007 a0012c0024 a0016c0022	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0005c0005t0005 a0007c0007t0001 a0012c0024t0001 a0016c0022t0001	a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0076 others(33): Show a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0101 a0001c0001t0001g0189 a0001c0001t0001g0280 a0002c0002t0001g0144 a0002c0002t0001g0149 a0003c0003t0001g0046 a0003c0003t0001g0074 a0003c0003t0001g0120 a0003c0003t0001g0157 a0003c0003t0001g0180 a0004c0004t0001g0090 a0004c0004t0001g0200 a0004c0004t0001g0201 a0004c0004t0001g0202 a0004c0004t0001g0203 a0004c0004t0001g0204 a0004c0004t0001g0211 a0004c0004t0001g0237 a0004c0004t0001g0252 a0004c0004t0001g0263 a0004c0004t0001g0273 a0004c0004t0001g0284 a0004c0004t0001g0285 a0004c0004t0001g0305 a0005c0005t0001g0017 a0005c0005t0001g0110 a0005c0005t0001g0124 a0005c0005t0001g0125 a0005c0005t0005g0127 a0007c0007t0001g0016 a0007c0007t0001g0278 a0012c0024t0001g0286 a0016c0022t0001g0232	38	323	0.1176	102	c.12 others(113): Show c.1270_*1271insTACAGCCCCAGAGGCTCTCTCCAACCCTGCCTGG ATCCCACACGCTTCCTGCACAGCCCCAGAGGCTCTCTCCAACCCTGCCTG GATCCCACACGCTTCCTG	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding		1102		chr13	TogoVar
ERO1B_chr1_236210101_236286958	236245498	A A	ATATATAT others(95): Show ATATATATACGTATATATATACACACGTATATATATACGTATATATATAC ACGTATATATATGTATATATATACACGTATATATATATGTATATATATAC ACG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0330 a0001c0001t0003g0330	1	321	0.0031	102	c.432 others(119): Show c.432-2004_432-2003insCGTGTATATATATACATATATATATACG TGTATATATATACATATATATACGTGTATATATATACGTATATATATACG TGTGTATATATATACGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245498	A A	ATATATAT others(95): Show ATATATATACGTATATATATACACACGTATATATATGTATATATATACAC GTATATATATGTATATATATATACACGTATATATATATGTATATATATAC ACG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01346.hp2 HG01433.hp1 others(9): Show HG01099.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02148.hp2 HG02735.hp2 HG03669.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0044 a0001c0001t0003 a0001c0001t0005 a0001c0001t0044	a0001c0001t0003g0279 a0001c0001t0003g0287 a0001c0001t0003g0290 others(9): Show a0001c0001t0003g0279 a0001c0001t0003g0287 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0005g0333 a0001c0001t0044g0284	12	332	0.0361	102	c.432 others(119): Show c.432-2004_432-2003insCGTGTATATATATACATATATATATACG TGTATATATATATACATATATATACGTGTATATATATACATATATATACG TGTGTATATATATACGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245510	G G	GTATATAT others(95): Show GTATATATACACACGTATATATATATGTGTATATATATACACGTATATAT ATATGTGTATATATATACACGTATATATATGTGTATATATATACACGTAT ATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0288 a0001c0001t0008g0288	1	303	0.0033	102	c.432 others(119): Show c.432-2016_432-2015insTATATACGTGTATATATATACACATATA TATACGTGTATATATATACACATATATATATACGTGTATATATATACACA TATATATATACGTGTGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(95): Show TTATATATATATTATTTTATATGCATATAAAATAATATATATATAATTTT ATATGCATATAAAATAATATATATATTATTTTATATGCATATAAAATAAT ATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18906.hp2 NA20129.hp2 HG02109.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0019 a0001c0002t0032 a0001c0012t0008 a0001c0002t0019 a0001c0002t0032 a0001c0012t0008	a0001c0002t0019g0240 a0001c0002t0032g0018 a0001c0012t0008g0017 a0001c0002t0019g0240 a0001c0002t0032g0018 a0001c0012t0008g0017	3	50	0.0600	102	c.643 others(119): Show c.643+7338_643+7339insTATTTTATATGCATATAAAATAATATAT ATATAATTTTATATGCATATAAAATAATATATATATTATTTTATATGCAT ATAAAATAATATATATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESR1_chr6_151802682_152108274	151850114	T T	TTATATAT others(95): Show TTATATATATATTATTTTATATGCATATAATAATATATATATATAATTTT ATATGCATATAAAATAATATATATATTATTTTATATGCATATAAAATTAT ATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0168 a0001c0001t0011g0168	1	48	0.0208	102	c.643 others(119): Show c.643+7338_643+7339insTATTTTATATGCATATAATAATATATAT ATATAATTTTATATGCATATAAAATAATATATATATTATTTTATATGCAT ATAAAATTATATATATATATATAT	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ETV7_chr6_36361194_36392669	36363381	C C	CGTGGGCT others(95): Show CGTGGGCTTAGGGGCTCGCTGGCTCCAGGAGTGAAGTTGCAGACCTTCGC GGTGAGTGTTACAGCCCTTAAGACAGTGCGTCTGGAGTCGTTCGTTCCTC CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02683.hp1 others(3): Show HG02055.hp2 HG02630.hp1 HG02683.hp1 HG03491.hp1 HG03834.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0230 others(3): Show a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0230 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0002g0290	6	460	0.0130	102	c.32 others(113): Show c.3263_*3264insTGGGAGGAACGAACGACTCCAGACGCACTGTCTT AAGGGCTGTAACACTCACCGCGAAGGTCTGCAACTTCACTCCTGGAGCCA GCGAGCCCCTAAGCCCAC	ETV7	ENSG00000010030.14	transcript	ENST00000340181.9	protein_coding		2812		chr6	TogoVar

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