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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF3J_chr15_44532147_44567803 | 44546816 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02630.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0227 a0002c0002t0003g0022 a0002c0002t0003g0223 others(6): Show |
10 | 163 | 0.0613 | -9 | c.148 others(26): Show |
EIF3J | ENSG00000104131.13 | transcript | ENST00000261868.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
EIF3M_chr11_32578831_32611264 | 32607080 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp1 others(95): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 others(54): Show |
98 | 148 | 0.6622 | -9 | c.*46 others(20): Show |
EIF3M | ENSG00000149100.13 | transcript | ENST00000531120.6 | protein_coding | 817 | chr11 | TogoVar | |||||||
EIF4A3_chr17_80129369_80152128 | 80132127 | AAAACAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01358.hp2 HG02040.hp1 HG02809.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0027 a0001c0001t0002g0018 a0001c0001t0003g0144 others(7): Show |
11 | 416 | 0.0264 | -9 | c.*33 others(20): Show |
EIF4A3 | ENSG00000141543.12 | transcript | ENST00000649764.2 | protein_coding | 2241 | chr17 | TogoVar | |||||||
EIF4ENIF1_chr22_31434367_31494842 | 31450846 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02818.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0249 a0001c0001t0001g0250 others(1): Show |
4 | 359 | 0.0111 | -9 | c.151 others(26): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 10/18 | chr22 | TogoVar | |||||||
EIF4E_chr4_98874276_98934133 | 98874784 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01169.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(21): Show |
24 | 120 | 0.2000 | -9 | c.*62 others(20): Show |
EIF4E | ENSG00000151247.13 | transcript | ENST00000450253.7 | protein_coding | 4491 | chr4 | TogoVar | |||||||
EIF4G1_chr3_184309606_184340353 | 184321978 | AAGGAGAA others(2): Show |
A | disruptive_inframe_deletion | MODERATE | HG00738.hp2 HG01109.hp1 HG01175.hp1 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0014 a0003c0005t0001g0041 |
5 | 382 | 0.0131 | -9 | c.141 others(18): Show |
p.Gly others(13): Show |
EIF4G1 | ENSG00000114867.22 | transcript | ENST00000346169.7 | protein_coding | 10/33 | 1573/5405 | 1413/4800 | 471/1599 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
EIF4G3_chr1_20801479_21181897 | 20861568 | AGAGTTAA others(2): Show |
A | intron_variant | MODIFIER | NA19005.hp1 NA19065.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0274 a0001c0001t0011g0276 a0001c0001t0011g0277 |
3 | 310 | 0.0097 | -9 | c.311 others(26): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 23/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20939847 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 others(7): Show |
10 | 213 | 0.0469 | -9 | c.166 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 14/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20959655 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01952.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0004g0210 others(20): Show |
23 | 156 | 0.1474 | -9 | c.715 others(26): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 12/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20986744 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG04204.hp2 NA18947.hp1 NA18948.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 others(3): Show |
6 | 24 | 0.2500 | -9 | c.178 others(26): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 7/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21094765 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01952.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 others(23): Show |
26 | 143 | 0.1818 | -9 | c.-27 others(28): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21158988 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp2 NA18965.hp1 NA19087.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0244 a0001c0001t0003g0261 a0001c0001t0003g0265 others(1): Show |
4 | 310 | 0.0129 | -9 | c.-27 others(30): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21179865 | AATATATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(109): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0151 others(109): Show |
112 | 307 | 0.3648 | -9 | c.-36 others(20): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2969 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21179911 | AATATATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0152 a0001c0001t0001g0163 |
3 | 304 | 0.0099 | -9 | c.-36 others(20): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3015 | chr1 | TogoVar | |||||||
ELAC1_chr18_50963040_50993121 | 50983155 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02486.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0020 a0001c0001t0001g0073 a0001c0001t0001g0092 others(3): Show |
8 | 150 | 0.0533 | -9 | c.158 others(24): Show |
ELAC1 | ENSG00000141642.9 | transcript | ENST00000269466.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ELAC2_chr17_12986612_13023027 | 12986697 | AAAAAAGA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG03017.hp1 HG04115.hp2 others(3): Show |
a0003 | a0003c0006 | a0003c0006t0006 | a0003c0006t0006g0012 a0003c0006t0006g0088 a0003c0006t0006g0089 |
6 | 397 | 0.0151 | -9 | c.*61 others(20): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4914 | chr17 | TogoVar | |||||||
ELAPOR1_chr1_109109115_109211781 | 109116680 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0022a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0042 others(56): Show |
59 | 76 | 0.7763 | -9 | c.153 others(26): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109182333 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0019others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(29): Show | a0001c0001t0001g0008 a0001c0001t0001g0122 a0001c0001t0002g0018 others(73): Show |
76 | 95 | 0.8000 | -9 | c.953 others(26): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR2_chr7_86871906_87064654 | 86964241 | CACTAAAT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00639.hp1 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(58): Show |
61 | 194 | 0.3144 | -9 | c.310 others(24): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 8009532 | TTTATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00621.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0057 a0001c0001t0001g0118 a0001c0001t0001g0158 others(40): Show |
44 | 89 | 0.4944 | -9 | c.-40 others(20): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 3892 | chr19 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11464884 | TACACACA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(99): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(93): Show |
102 | 316 | 0.3228 | -9 | c.333 others(26): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ELAVL3_chr19_11446326_11486046 | 11464934 | TACACACA others(2): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02257.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(4): Show | a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0303 others(9): Show |
12 | 316 | 0.0380 | -9 | c.333 others(26): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ELF1_chr13_40926924_41024316 | 40952847 | TTACCCTC others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(54): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0003t0001others(4): Show | a0001c0001t0001g0120 a0001c0001t0001g0158 a0001c0001t0014g0283 others(53): Show |
57 | 360 | 0.1583 | -9 | c.254 others(26): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139081910 | GAACATTA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(103): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0125 a0001c0001t0001g0192 a0001c0001t0001g0193 others(103): Show |
106 | 340 | 0.3118 | -9 | c.239 others(26): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
ELF5_chr11_34473791_34518794 | 34484472 | CACTATAC others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0090 others(32): Show |
44 | 418 | 0.1053 | -9 | c.407 others(26): Show |
ELF5 | ENSG00000135374.11 | transcript | ENST00000257832.7 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ELFN1_chr7_1665277_1752946 | 1688031 | ATTTTTTT others(2): Show |
A | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02451.hp1 HG02622.hp2 others(13): Show |
a0001a0013a0015 | a0001c0001a0001c0005a0013c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0003g0134 others(13): Show |
16 | 228 | 0.0702 | -9 | c.-54 others(23): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ELFN2_chr22_37362960_37432479 | 37381955 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(173): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(58): Show | a0001c0001t0002g0005 a0001c0001t0002g0031 a0001c0001t0002g0101 others(171): Show |
176 | 204 | 0.8627 | -9 | c.-46 others(28): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 2/2 | chr22 | TogoVar | |||||||
ELK3_chr12_96189375_96274824 | 96211486 | TTTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG02922.hp2 NA18946.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0231 a0001c0001t0002g0327 a0001c0001t0006g0199 |
3 | 138 | 0.0217 | -9 | c.-2- others(26): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18482308 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0006a0001c0005t0007 | a0001c0001t0001g0144 a0001c0004t0006g0170 a0001c0004t0006g0171 others(4): Show |
7 | 76 | 0.0921 | -9 | c.136 others(26): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 36885319 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01256.hp1 HG01258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0041 a0001c0001t0002g0002 a0001c0001t0009g0056 others(9): Show |
12 | 41 | 0.2927 | -9 | c.171 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37267027 | ATATGTAT others(2): Show |
A | intron_variant | MODIFIER | HG02818.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0090 a0001c0001t0015g0061 |
2 | 89 | 0.0225 | -9 | c.243 others(26): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 5/21 | chr7 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37429019 | GGTTGTTG others(2): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01192.hp1 HG01256.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0074 others(23): Show |
26 | 36 | 0.7222 | -9 | c.-74 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELMO3_chr16_67194131_67209004 | 67195890 | ACAGCAGC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 298 | 0.0134 | -9 | c.-34 others(20): Show |
ELMO3 | ENSG00000102890.16 | transcript | ENST00000393997.8 | protein_coding | 3240 | chr16 | TogoVar | |||||||
ELMOD1_chr11_107586147_107671779 | 107615985 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01099.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 others(15): Show |
18 | 43 | 0.4186 | -9 | c.-85 others(26): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELMOD2_chr4_140519168_140558770 | 140543117 | TCAGATTA others(2): Show |
T | intron_variant | MODIFIER | HG02132.hp1 HG03017.hp2 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0124 others(2): Show |
5 | 368 | 0.0136 | -9 | c.603 others(24): Show |
ELMOD2 | ENSG00000179387.10 | transcript | ENST00000323570.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ELMOD3_chr2_85349769_85396748 | 85391015 | TCAGTGGA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp2 others(16): Show |
a0004a0007a0008 | a0004c0004a0007c0009a0008c0015 | a0004c0004t0003a0007c0009t0003a0008c0015t0003 | a0004c0004t0003g0006 a0004c0004t0003g0011 a0004c0004t0003g0012 others(9): Show |
19 | 384 | 0.0495 | -9 | c.*56 others(16): Show |
ELMOD3 | ENSG00000115459.18 | transcript | ENST00000409013.8 | protein_coding | 14/14 | 56 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ELOA_chr1_23738471_23767059 | 23765206 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01099.hp1 HG01106.hp2 others(26): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0005a0002c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(21): Show |
29 | 35 | 0.8286 | -9 | c.*56 others(20): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 3148 | chr1 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73950097 | TTTGGAGA others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG06807.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0026 a0001c0001t0007g0102 |
3 | 402 | 0.0075 | -9 | c.149 others(26): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73970916 | CCCAGCTG others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0019 others(43): Show |
62 | 402 | 0.1542 | -9 | c.-51 others(26): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
ELOF1_chr19_11548046_11564230 | 11550969 | ACACACGA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0016others(1): Show | a0001c0001t0004g0005 a0001c0001t0005g0045 a0001c0001t0016g0032 others(1): Show |
4 | 410 | 0.0098 | -9 | c.*27 others(20): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 2076 | chr19 | TogoVar | |||||||
ELOVL1_chr1_43358401_43373011 | 43370039 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 |
7 | 352 | 0.0199 | -9 | c.-21 others(20): Show |
ELOVL1 | ENSG00000066322.15 | transcript | ENST00000372458.8 | protein_coding | 2029 | chr1 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10993857 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02486.hp1 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0012a0002c0004t0016 | a0001c0001t0012g0298 a0001c0001t0012g0299 a0001c0001t0012g0300 others(4): Show |
7 | 101 | 0.0693 | -9 | c.505 others(26): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11029223 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(96): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0013 others(91): Show |
99 | 173 | 0.5723 | -9 | c.3+1 others(24): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11030891 | TCCTGTGT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0282 others(1): Show |
4 | 378 | 0.0106 | -9 | c.3+1 others(24): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110061549 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01069.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0335 a0001c0001t0002g0135 a0001c0001t0002g0334 others(18): Show |
21 | 119 | 0.1765 | -9 | c.222 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084134 | AATGATAT others(2): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0014 a0001c0001t0014g0025 a0001c0001t0014g0111 |
3 | 217 | 0.0138 | -9 | c.221 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084579 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG02004.hp1 HG02129.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0125 a0001c0001t0001g0276 a0001c0001t0002g0241 others(19): Show |
22 | 336 | 0.0655 | -9 | c.221 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084588 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG03098.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0029 | a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0137 others(8): Show |
11 | 243 | 0.0453 | -9 | c.221 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110103783 | AAGTGTAA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(165): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0020 a0001c0001t0001g0057 a0001c0001t0001g0059 others(165): Show |
168 | 336 | 0.5000 | -9 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110173670 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02145.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0035 others(32): Show |
35 | 75 | 0.4667 | -9 | c.89+ others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar |