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
EIF2D_chr1_206586642_206617465	206593508	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	426	0.0024	24	c.168 others(40): Show c.1684+87_1684+110dupACACACACACACACACACACACAC	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	14/14			chr1	TogoVar
EIF2S3B_chr12_10500890_10513525	10504306	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03225.hp1 HG03098.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	422	0.0047	24	c.-15 others(35): Show c.-1597_-1596insATATATATATATATATATATATAT	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1583		chr12	TogoVar
EIF2S3B_chr12_10500890_10513525	10504330	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18982.hp2 NA19004.hp2 others(2): Show HG02055.hp1 NA18982.hp2 NA19004.hp2 NA19010.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	422	0.0119	24	c.-15 others(35): Show c.-1573_-1572insATATATATATATATATATATATAC	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1559		chr12	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00673.hp2 others(4): Show HG00408.hp2 HG00639.hp1 HG00673.hp2 HG03579.hp1 NA18970.hp1 NA18981.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0002t0003	a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0002g0067 others(4): Show a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0080 a0001c0001t0003g0074 a0001c0001t0024g0325 a0001c0002t0003g0009	7	350	0.0200	24	c.219 others(43): Show c.2197-1071_2197-1048dupCACACACACACACACACACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3B_chr7_2349827_2385745	2380493	G G	GGCGTTGG others(17): Show GGCGTTGGCTCCGAAGACTTAGCGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0217 a0001c0003t0014g0217	1	384	0.0026	24	c.30 others(33): Show c.305_*328dupGCGTTGGCTCCGAAGACTTAGCGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	19/19	1021	INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3E_chr8_108196216_108253717	108201250	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01433.hp2 HG01952.hp1 others(9): Show HG00741.hp1 HG01433.hp2 HG01952.hp1 HG02109.hp1 HG02132.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02965.hp2 HG03710.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0087 others(9): Show a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0087 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0092 a0001c0001t0007g0102 a0001c0001t0007g0108 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0007g0172 a0001c0001t0007g0182	12	348	0.0345	24	c.63 others(33): Show c.634_*635insATATATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	13/13	634		chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204746	T T	TATATATA others(17): Show TATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0182 a0001c0001t0007g0182	1	348	0.0029	24	c.106 others(43): Show c.1062-1244_1062-1243insCTATATATATATATATATATATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01167.hp1 others(13): Show HG00323.hp2 HG01070.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02735.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 NA18960.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0159 others(13): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0159 a0001c0001t0001g0216 a0001c0001t0002g0281 a0001c0001t0002g0296 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0168 a0001c0001t0004g0174 a0001c0001t0004g0180 a0001c0001t0009g0153 a0001c0001t0009g0154 a0001c0001t0012g0212 a0001c0001t0012g0213	16	336	0.0476	24	c.707 others(41): Show c.707+2507_707+2508insGTGTGTGTGTGTGTGTGTGTGTGT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG03486.hp2 HG02145.hp2 HG02723.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0282 a0001c0001t0001g0292 a0001c0002t0001g0078 a0001c0001t0001g0282 a0001c0001t0001g0292 a0001c0002t0001g0078	3	318	0.0094	24	c.580 others(41): Show c.580-1540_580-1517dupTTTTTTTTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	372	0.0027	24	c.668 others(39): Show c.668-646_668-645insTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01952.hp2 HG02148.hp1 others(8): Show HG00642.hp2 HG01952.hp2 HG02148.hp1 HG02717.hp1 HG03130.hp2 HG03490.hp2 HG03492.hp2 NA18955.hp2 NA19001.hp1 NA19002.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0017	a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0060 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0257 a0001c0001t0002g0180 a0001c0001t0006g0033 a0001c0001t0017g0079	11	372	0.0296	24	c.979 others(41): Show c.979+2227_979+2250dupTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4E3_chr3_71670414_71730402	71729798	A A	ATGTGTGT others(17): Show ATGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	398	0.0025	24	c.-44 others(35): Show c.-4455_-4432dupCACACACACACACACACACACACA	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding		4397		chr3	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31441550	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	366	0.0027	24	c.255 others(41): Show c.2551+223_2551+224insTTTTTTTTTTTTTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	17/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02886.hp2 HG01516.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0122 a0001c0004t0001g0110 a0001c0001t0001g0122 a0001c0004t0001g0110	2	366	0.0055	24	c.299 others(39): Show c.299-733_299-732insATATATATATATATATTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0302 a0001c0003t0001g0302	1	366	0.0027	24	c.299 others(39): Show c.299-733_299-732insATATATATATATATATATTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20814748	T T	TCTCCCTC others(17): Show TCTCCCTCTCCCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18948.hp1 NA18957.hp2 others(2): Show NA18522.hp2 NA18948.hp1 NA18957.hp2 NA19000.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0167 a0001c0001t0003g0252 a0001c0001t0003g0257 others(2): Show a0001c0001t0001g0167 a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0266 a0001c0001t0003g0270	5	312	0.0160	24	c.451 others(43): Show c.4516-1510_4516-1509insGGGGAGGGGGAGGGGGAGAGGGAG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814776	C C	CCCCTCCC others(17): Show CCCCTCCCCCTCCCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01070.hp2 others(23): Show HG00323.hp1 HG00639.hp1 HG01070.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02258.hp1 HG03017.hp2 NA18949.hp1 NA18987.hp2 NA19009.hp1 NA19079.hp2 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0002g0051 a0001c0001t0002g0052 others(23): Show a0001c0001t0001g0021 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088	26	312	0.0833	24	c.451 others(43): Show c.4516-1538_4516-1537insAGAGGGAGAGGGGGAGGGGGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814782	C C	CCCCTCCC others(17): Show CCCCTCCCCCTCCCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0012 a0012	a0012c0008 a0012c0008	a0012c0008t0003 a0012c0008t0003	a0012c0008t0003g0264 a0012c0008t0003g0264	1	312	0.0032	24	c.451 others(43): Show c.4516-1544_4516-1543insAGAGGGAGAGGGGGAGGGGGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02602.hp1 NA19005.hp1 others(1): Show HG01069.hp1 HG02602.hp1 NA19005.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0007g0040 others(1): Show a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0007g0040 a0001c0001t0011g0275	4	312	0.0128	24	c.300 others(43): Show c.3007-1070_3007-1047dupTTTTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20943967	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	312	0.0032	24	c.824 others(41): Show c.824-1638_824-1637insACACACACACACACACACACACAC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21068375	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	312	0.0032	24	c.-19 others(45): Show c.-195-17405_-195-17382dupTTTTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02970.hp1 NA18955.hp1 HG00423.hp2 HG02970.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0006g0151 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0006g0151	3	312	0.0096	24	c.-27 others(45): Show c.-271-28547_-271-28524dupTTTTTTTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF5B_chr2_99332389_99406326	99338922	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01496.hp2 HG03927.hp2 HG01358.hp1 HG01496.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0296 a0001c0005t0002g0297 a0001c0005t0002g0298 a0001c0005t0002g0296 a0001c0005t0002g0297 a0001c0005t0002g0298	3	342	0.0088	24	c.35+ others(39): Show c.35+1334_35+1335insGTATATATATATATATATATATAT	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(17): Show AATATATATATATACAAATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 NA18991.hp1 others(1): Show HG02258.hp1 HG03486.hp2 NA18991.hp1 NA19072.hp2	a0001 a0002 a0001 a0002	a0001c0015 a0002c0001 a0001c0015 a0002c0001	a0001c0015t0002 a0002c0001t0002 a0002c0001t0005 a0001c0015t0002 a0002c0001t0002 a0002c0001t0005	a0001c0015t0002g0278 a0002c0001t0002g0277 a0002c0001t0002g0280 others(1): Show a0001c0015t0002g0278 a0002c0001t0002g0277 a0002c0001t0002g0280 a0002c0001t0005g0279	4	342	0.0117	24	c.35+ others(39): Show c.35+1415_35+1416insTACAAATATATATATATATATATA	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF6_chr20_35273918_35289772	35277507	G G	GGAAGCAG others(17): Show GGAAGCAGGCTGGGGTGTAGACTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	24	c.16 others(35): Show c.1666_*1689dupGCAGTCTACACCCCAGCCTGCTTC	EIF6	ENSG00000242372.9	transcript	ENST00000374450.8	protein_coding		1410		chr20	TogoVar
EIPR1_chr2_3183970_3382818	3237221	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01243.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0127 a0001c0001t0001g0056 a0001c0001t0001g0127	2	250	0.0080	24	c.416 others(43): Show c.416+20054_416+20077dupGTGTGTGTGTGTGTGTGTGTGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109113451	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	230	0.0044	24	c.-73 others(33): Show c.-733_-732insGAGAGAGAGAGAGAGAGAGGGAGT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		663		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109183605	C C	CCTCCCTC others(17): Show CCTCCCTCCCTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02622.hp2 HG02965.hp2 others(2): Show HG00639.hp1 HG02622.hp2 HG02965.hp2 HG03654.hp2 NA19083.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0013 a0009c0023 a0001c0001 a0001c0013 a0009c0023	a0001c0001t0001 a0001c0013t0001 a0001c0013t0031 others(1): Show a0001c0001t0001 a0001c0013t0001 a0001c0013t0031 a0009c0023t0034	a0001c0001t0001g0023 a0001c0013t0001g0105 a0001c0013t0001g0106 others(2): Show a0001c0001t0001g0023 a0001c0013t0001g0105 a0001c0013t0001g0106 a0001c0013t0031g0069 a0009c0023t0034g0054	5	230	0.0217	24	c.953 others(41): Show c.953-1440_953-1439insCTCCCTCCCTCCTTCCTTCCTTCT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21			chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86905070	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	196	0.0051	24	c.255 others(43): Show c.2558+2576_2558+2599dupCTTCCTTCCTTCCTTCCTTCCTTC	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	18/21			chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAGAAAGA others(17): Show GAGAAAGAGAGAAAGAGAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0229 a0001c0002t0004g0229	1	276	0.0036	24	c.61 others(35): Show c.6123_*6124insTTCTTTCTCTCTTTCTCTCTTTCT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	276	0.0036	24	c.60 others(35): Show c.6094_*6095insCTTCTTTCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03471.hp2 HG02258.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0188 a0001c0001t0001g0098 a0001c0001t0001g0188	2	276	0.0073	24	c.60 others(35): Show c.6094_*6095insCTTCCTTCTTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG03130.hp1 HG02572.hp1 HG02615.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0138 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0138	3	276	0.0109	24	c.60 others(35): Show c.6094_*6095insCTTCCTTCCTTCTTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(17): Show AGAAAGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0037 a0001c0001t0013g0037	1	276	0.0036	24	c.60 others(35): Show c.6094_*6095insCTTCCTTCCTTCCTTCCTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7957429	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02976.hp2 others(1): Show HG02280.hp2 HG02630.hp2 HG02976.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0005 a0001c0001t0003g0072 a0001c0001t0006g0161 others(1): Show a0001c0001t0001g0005 a0001c0001t0003g0072 a0001c0001t0006g0161 a0001c0001t0006g0200	4	276	0.0145	24	c.60 others(35): Show c.6053_*6054insTCTTCCTTCCTTCCTTCCTTCCTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1143		chr19	TogoVar
ELAVL1_chr19_7953573_8010641	7962295	T T	TTAATGGT others(17): Show TTAATGGTCTTAAATGCAAAAGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0039 a0003c0007t0039	a0003c0007t0039g0066 a0003c0007t0039g0066	1	276	0.0036	24	c.11 others(35): Show c.1164_*1187dupTTACTTTTGCATTTAAGACCATTA	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding	6/6	1187		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01934.hp2 NA18957.hp1 others(1): Show HG00735.hp2 HG01934.hp2 NA18957.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0208 a0001c0001t0001g0231 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0208 a0001c0001t0001g0231 a0001c0001t0001g0255	4	352	0.0114	24	c.230 others(41): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830601	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01255.hp1 NA18952.hp2 others(3): Show HG01070.hp2 HG01255.hp1 NA18952.hp2 NA19062.hp1 NA19072.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0084 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0084 a0001c0001t0003g0066 a0001c0001t0004g0083 a0001c0001t0005g0055	6	352	0.0171	24	c.-48 others(35): Show c.-4812_-4811insGTGTGTGTGTGTGTGTGTGTGTGT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding		4362		chr9	TogoVar
ELAVL3_chr19_11446326_11486046	11464073	G G	GCCTCTCT others(17): Show GCCTCTCTCTCCCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	318	0.0031	24	c.333 others(41): Show c.333+2075_333+2098dupGAGAGAGAGGGAGGGAGAGAGAGG	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6			chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11484751	C C	CAAAAACA others(17): Show CAAAAACAAAAAAAACTTCTGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	318	0.0031	24	c.-41 others(35): Show c.-4167_-4144dupTGGGCAGAAGTTTTTTTTGTTTTT	ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding		3706		chr19	TogoVar
ELF2_chr4_139052265_139182218	139092384	T T	TAACATAA others(17): Show TAACATAACATAACATAACATAACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	342	0.0029	24	c.239 others(43): Show c.239-18841_239-18818dupTGTTATGTTATGTTATGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	342	0.0029	24	c.238 others(43): Show c.238+10579_238+10602dupTGTGTGTGTGTGTGTGTGTGTGTG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF4_chrX_130058955_130115497	130102876	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0128 a0001c0001t0032g0128	1	274	0.0037	24	c.-21 others(43): Show c.-210+7448_-210+7449insTTCTTTCTTTCTTTCTTTCTTTCT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELFN2_chr22_37362960_37432479	37401529	A A	AGGGAGGA others(17): Show AGGGAGGAGGCCGCAGCCAGGGTAG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0004 a0009c0016t0004	a0009c0016t0004g0032 a0009c0016t0004g0032	1	334	0.0030	24	c.-46 others(45): Show c.-463+16216_-463+16239dupCTACCCTGGCTGCGGCCTCCTCCC	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELFN2_chr22_37362960_37432479	37431867	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0230 a0001c0003t0043g0230	1	334	0.0030	24	c.-51 others(35): Show c.-5184_-5183insGTGTGTGTGTGTGTGTGTGTGTGT	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding		4389		chr22	TogoVar
ELK3_chr12_96189375_96274824	96271489	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG04204.hp1 HG00140.hp2 HG01074.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0220 a0001c0001t0011g0031 a0001c0001t0011g0082 a0001c0001t0006g0220 a0001c0001t0011g0031 a0001c0001t0011g0082	3	354	0.0085	24	c.43 others(35): Show c.4309_*4310insTGTGTGTGTGTGTGTGTGTGTGTG	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding		1666		chr12	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0041 a0001c0003t0004g0041	1	314	0.0032	24	c.482 others(39): Show c.482-515_482-514insAAAAAAAAAATATATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927426	C C	CACACACA others(17): Show CACACACACGTGTGTATATAGACAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	314	0.0032	24	c.196 others(41): Show c.196-7905_196-7882dupATGTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927500	T T	TACACACA others(17): Show TACACACACGTGTATATAGACATAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	314	0.0032	24	c.196 others(41): Show c.196-7956_196-7955insGTATGTCTATATACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927706	C C	CACACACA others(17): Show CACACACACGTGTGTATATAGACAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	314	0.0032	24	c.196 others(41): Show c.196-8162_196-8161insATGTCTATATACACACGTGTGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar

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