view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF4ENIF1_chr22_31434367_31494842 | 31446285 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 366 | 0.0027 | 11 | c.198 others(30): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 14/18 | chr22 | TogoVar | |||||||
EIF4ENIF1_chr22_31434367_31494842 | 31464675 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0335 a0001c0003t0004g0323 |
2 | 366 | 0.0055 | 11 | c.299 others(26): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | |||||||
EIF4ENIF1_chr22_31434367_31494842 | 31464699 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0327 | 1 | 366 | 0.0027 | 11 | c.299 others(26): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | |||||||
EIF4ENIF1_chr22_31434367_31494842 | 31464699 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 366 | 0.0027 | 11 | c.299 others(26): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | |||||||
EIF4ENIF1_chr22_31434367_31494842 | 31464699 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 366 | 0.0027 | 11 | c.299 others(26): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | |||||||
EIF4E_chr4_98874276_98934133 | 98907431 | T | TCAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01123.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0075 |
2 | 300 | 0.0067 | 11 | c.19- others(26): Show |
EIF4E | ENSG00000151247.13 | transcript | ENST00000450253.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
EIF4E_chr4_98874276_98934133 | 98915545 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0173 a0001c0001t0004g0185 a0001c0001t0004g0186 others(5): Show |
8 | 300 | 0.0267 | 11 | c.18+ others(28): Show |
EIF4E | ENSG00000151247.13 | transcript | ENST00000450253.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20857162 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03225.hp2 HG03453.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0004c0006t0001 | a0001c0001t0001g0208 a0001c0001t0002g0070 a0004c0006t0001g0119 others(1): Show |
4 | 312 | 0.0128 | 11 | c.333 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 25/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20868090 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02145.hp2 HG02451.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 others(14): Show |
17 | 312 | 0.0545 | 11 | c.262 others(30): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 20/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21007515 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01106.hp2 HG01168.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0020others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(26): Show |
29 | 312 | 0.0930 | 11 | c.-66 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 4/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21007526 | A | AAACAAAC others(4): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0007g0001 others(9): Show |
12 | 312 | 0.0385 | 11 | c.-66 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 4/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21007530 | A | AAACAAAC others(4): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0041 | 1 | 312 | 0.0032 | 11 | c.-66 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 4/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21026539 | C | CAACTTGG others(4): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0267 | 1 | 312 | 0.0032 | 11 | c.-66 others(30): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 4/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21068382 | A | ACAAAACA others(4): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02818.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0024 | a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0007g0041 others(4): Show |
7 | 312 | 0.0224 | 11 | c.-19 others(32): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21068387 | A | ACAAAACA others(4): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 others(3): Show |
6 | 312 | 0.0192 | 11 | c.-19 others(32): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21083037 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 HG04199.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014 | a0001c0001t0001g0227 a0001c0001t0007g0043 a0001c0001t0014g0118 |
3 | 312 | 0.0096 | 11 | c.-19 others(30): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21117736 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 312 | 0.0032 | 11 | c.-27 others(32): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21179942 | T | TATCAAGC others(4): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 312 | 0.0032 | 11 | c.-36 others(22): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3046 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21180056 | T | TTACATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03486.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0214 a0001c0001t0005g0295 a0001c0002t0001g0098 |
3 | 312 | 0.0096 | 11 | c.-37 others(22): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3160 | chr1 | TogoVar | |||||||
EIF4H_chr7_74169356_74202096 | 74186788 | A | AATTTTTT others(4): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 374 | 0.0027 | 11 | c.60- others(24): Show |
EIF4H | ENSG00000106682.16 | transcript | ENST00000265753.13 | protein_coding | 1/6 | chr7 | TogoVar | |||||||
EIF4H_chr7_74169356_74202096 | 74201333 | G | GAGTAGCT others(4): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 374 | 0.0027 | 11 | c.*60 others(22): Show |
EIF4H | ENSG00000106682.16 | transcript | ENST00000265753.13 | protein_coding | 4238 | chr7 | TogoVar | |||||||
EIF4H_chr7_74169356_74202096 | 74201908 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01106.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(31): Show |
38 | 374 | 0.1016 | 11 | c.*66 others(22): Show |
EIF4H | ENSG00000106682.16 | transcript | ENST00000265753.13 | protein_coding | 4813 | chr7 | TogoVar | |||||||
EIF5A2_chr3_170883418_170913637 | 170889048 | C | CTTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0071 | 1 | 394 | 0.0025 | 11 | c.*43 others(22): Show |
EIF5A2 | ENSG00000163577.8 | transcript | ENST00000295822.7 | protein_coding | 5/5 | 4311 | chr3 | TogoVar | ||||||
EIF5B_chr2_99332389_99406326 | 99353005 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01981.hp2 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0005 | a0002c0001t0002g0207 a0002c0001t0002g0225 a0002c0001t0005g0232 others(2): Show |
5 | 342 | 0.0146 | 11 | c.36- others(26): Show |
EIF5B | ENSG00000158417.12 | transcript | ENST00000289371.11 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EIF5B_chr2_99332389_99406326 | 99381516 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0297 | 1 | 342 | 0.0029 | 11 | c.206 others(28): Show |
EIF5B | ENSG00000158417.12 | transcript | ENST00000289371.11 | protein_coding | 12/23 | chr2 | TogoVar | |||||||
EIF5B_chr2_99332389_99406326 | 99384196 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01123.hp1 others(21): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(6): Show | a0001c0002t0001g0121 a0001c0002t0001g0146 a0001c0002t0001g0158 others(20): Show |
24 | 342 | 0.0702 | 11 | c.227 others(30): Show |
EIF5B | ENSG00000158417.12 | transcript | ENST00000289371.11 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EIF6_chr20_35273918_35289772 | 35277784 | T | TCGGGCTG others(4): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 386 | 0.0026 | 11 | c.*14 others(22): Show |
EIF6 | ENSG00000242372.9 | transcript | ENST00000374450.8 | protein_coding | 1133 | chr20 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3199059 | G | GGCCCCCC others(4): Show |
intron_variant | MODIFIER | NA18995.hp1 NA19005.hp1 NA19091.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0088 a0001c0001t0001g0219 a0001c0003t0001g0193 |
3 | 250 | 0.0120 | 11 | c.517 others(28): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3199060 | G | GCCCCCCC others(4): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03225.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0017 a0001c0001t0003g0042 a0001c0001t0003g0222 |
3 | 250 | 0.0120 | 11 | c.517 others(28): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3341095 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 250 | 0.0040 | 11 | c.127 others(28): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 12986673 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 HG02615.hp1 HG02647.hp2 |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0025 | a0002c0002t0006g0018 a0002c0002t0006g0086 a0002c0002t0025g0060 |
3 | 400 | 0.0075 | 11 | c.*61 others(22): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4938 | chr17 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 12989101 | C | CCCCAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01257.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0025a0002c0002t0028 | a0002c0002t0005g0005 a0002c0002t0005g0090 a0002c0002t0005g0091 others(5): Show |
12 | 400 | 0.0300 | 11 | c.*37 others(22): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 2510 | chr17 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 12989101 | C | CCCCCAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0096 | 1 | 400 | 0.0025 | 11 | c.*37 others(22): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 2510 | chr17 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 12989101 | C | CCGAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0018 a0002c0002t0006g0086 |
3 | 400 | 0.0075 | 11 | c.*37 others(22): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 2510 | chr17 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 13009990 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG02886.hp2 others(1): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0021a0002c0008t0012 | a0002c0002t0021g0112 a0002c0008t0012g0034 a0002c0008t0012g0093 |
4 | 400 | 0.0100 | 11 | c.738 others(26): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 8/23 | chr17 | TogoVar | |||||||
ELANE_chr19_847303_861243 | 852914 | G | GGTGGGGG others(4): Show |
frameshift_variant | HIGH | HG00735.hp1 | a0004 | a0004c0016 | a0004c0016t0001 | a0004c0016t0001g0005 | 1 | 403 | 0.0025 | 11 | c.106 others(18): Show |
p.Ala others(4): Show |
ELANE | ENSG00000197561.7 | transcript | ENST00000263621.2 | protein_coding | 2/5 | 133/909 | 107/804 | 36/267 | chr19 | TogoVar | |||
ELAPOR1_chr1_109109115_109211781 | 109118900 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02258.hp1 HG02258.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0001c0024others(4): Show | a0001c0001t0001a0001c0013t0001a0001c0024t0001others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0001g0110 others(7): Show |
10 | 230 | 0.0435 | 11 | c.153 others(28): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109144061 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0003 | a0002c0003t0023 | a0002c0003t0023g0213 | 1 | 230 | 0.0044 | 11 | c.154 others(30): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR2_chr7_86871906_87064654 | 86986428 | C | CACAAAAA others(4): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0140 a0002c0002t0002g0141 |
2 | 196 | 0.0102 | 11 | c.190 others(30): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957388 | A | AGAGGAAG others(4): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0165 | 1 | 276 | 0.0036 | 11 | c.*60 others(22): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1184 | chr19 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957877 | C | CGTAAATG others(4): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 276 | 0.0036 | 11 | c.*56 others(22): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 695 | chr19 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23699812 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 352 | 0.0028 | 11 | c.713 others(28): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23702951 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01361.hp2 HG04228.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0127 a0001c0001t0001g0206 a0001c0001t0001g0210 others(3): Show |
6 | 352 | 0.0171 | 11 | c.488 others(28): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 4/6 | chr9 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23735105 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02071.hp2 HG04199.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0070 a0001c0001t0001g0137 a0001c0001t0001g0155 others(5): Show |
8 | 352 | 0.0227 | 11 | c.230 others(28): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23759754 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0099 | 1 | 352 | 0.0028 | 11 | c.229 others(28): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23830625 | C | CACACACA others(4): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 352 | 0.0028 | 11 | c.-48 others(22): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 4386 | chr9 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11449915 | G | GCCCCCCC others(4): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 318 | 0.0031 | 11 | c.*46 others(22): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 1410 | chr19 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11452700 | G | GCCCATAG others(4): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0176 | 1 | 318 | 0.0031 | 11 | c.*18 others(22): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 7/7 | 1825 | chr19 | TogoVar | ||||||
ELAVL3_chr19_11446326_11486046 | 11465020 | T | TACACACA others(4): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02257.hp1 HG02257.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0305 others(18): Show |
21 | 318 | 0.0660 | 11 | c.333 others(28): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11465035 | C | CACACCAC others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0014 | a0001c0014t0025 | a0001c0014t0025g0081 | 1 | 318 | 0.0031 | 11 | c.333 others(28): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar |