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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EBF1_chr5_158690920_159104916 | 158840655 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 HG03471.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0008a0002c0003t0046 | a0001c0001t0002g0175 a0001c0001t0008g0183 a0002c0003t0046g0033 |
3 | 196 | 0.0153 | -18 | c.555 others(33): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 158851555 | GAGGGGAG others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0180 others(68): Show |
71 | 196 | 0.3622 | -18 | c.555 others(37): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 158866827 | GTATATGT others(11): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0035 | 1 | 196 | 0.0051 | -18 | c.555 others(37): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 158866833 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02486.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0063a0001c0001t0065others(2): Show | a0001c0001t0001g0107 a0001c0001t0063g0057 a0001c0001t0065g0058 others(2): Show |
5 | 196 | 0.0255 | -18 | c.555 others(37): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 159098877 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03579.hp2 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0045a0001c0001t0051a0001c0002t0048others(1): Show | a0001c0001t0045g0031 a0001c0001t0051g0042 a0001c0002t0048g0032 others(1): Show |
4 | 196 | 0.0204 | -18 | c.134 others(33): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 1/15 | chr5 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25838188 | GCTCTCTC others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0019a0001c0001t0027others(3): Show | a0001c0001t0003g0200 a0001c0001t0019g0009 a0001c0001t0027g0103 others(3): Show |
6 | 220 | 0.0273 | -18 | c.*64 others(29): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 3536 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25934224 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01081.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(4): Show | a0001c0001t0001g0019 a0001c0001t0003g0180 a0001c0001t0003g0185 others(7): Show |
10 | 220 | 0.0455 | -18 | c.552 others(37): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26039473 | TGAGAAAC others(11): Show |
T | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0163 | 1 | 220 | 0.0046 | -18 | c.482 others(33): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 5/15 | chr8 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129844195 | CCGGTCTA others(11): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0055 | a0001c0001t0007g0272 a0001c0001t0055g0334 |
2 | 338 | 0.0059 | -18 | c.112 others(36): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 11/16 | chr10 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129880477 | GCACATAC others(11): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01934.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0062 a0001c0001t0002g0043 a0001c0001t0002g0066 others(3): Show |
6 | 338 | 0.0178 | -18 | c.555 others(35): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | |||||||
EBF4_chr20_2687780_2765108 | 2705785 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp1 HG03516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0002g0042 a0001c0002t0001g0294 a0001c0003t0001g0173 others(2): Show |
5 | 388 | 0.0129 | -18 | c.294 others(32): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4239509 | CACACCTG others(11): Show |
C | downstream_gene_variant | MODIFIER | NA18939.hp2 NA19065.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 a0002c0002t0002g0068 |
2 | 438 | 0.0046 | -18 | c.*24 others(29): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 1982 | chr19 | TogoVar | |||||||
ECE1_chr1_21212250_21295463 | 21273338 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG02055.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 others(31): Show |
34 | 304 | 0.1118 | -18 | c.281 others(33): Show |
ECE1 | ENSG00000117298.16 | transcript | ENST00000374893.11 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
ECE2_chr3_184271022_184298031 | 184274763 | GAAAGAAA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02683.hp2 NA20752.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 2 | 398 | 0.0050 | -18 | c.-13 others(29): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 1258 | chr3 | TogoVar | |||||||
ECE2_chr3_184271022_184298031 | 184283561 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 398 | 0.0025 | -18 | c.817 others(33): Show |
ECE2 | ENSG00000145194.19 | transcript | ENST00000404464.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ECHDC1_chr6_127283712_127348609 | 127309480 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00733.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0029 others(13): Show |
21 | 358 | 0.0587 | -18 | c.497 others(35): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
ECHDC1_chr6_127283712_127348609 | 127333666 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(87): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(65): Show |
90 | 358 | 0.2514 | -18 | c.-2- others(33): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
ECHDC3_chr10_11737382_11769070 | 11749773 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18963.hp2 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0064 | 1 | 420 | 0.0024 | -18 | c.390 others(33): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92533328 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0008 | a0008c0025 | a0008c0025t0001 | a0008c0025t0001g0128 | 1 | 400 | 0.0025 | -18 | c.-28 others(35): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111407403 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | HG00544.hp2 NA18991.hp1 NA19070.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0013t0001g0237 |
3 | 354 | 0.0085 | -18 | c.265 others(37): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 24/49 | chr9 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111421409 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0311 a0002c0002t0004g0312 |
2 | 354 | 0.0057 | -18 | c.145 others(35): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 15/49 | chr9 | TogoVar | |||||||
EDARADD_chr1_236389286_236489930 | 236405907 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01261.hp2 HG01361.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0005others(2): Show | a0001c0001t0001g0095 a0001c0001t0001g0159 a0001c0001t0003g0192 others(4): Show |
7 | 294 | 0.0238 | -18 | c.62- others(33): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236480096 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA18975.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0004 | a0001c0001t0004g0080 a0001c0003t0004g0027 |
2 | 294 | 0.0068 | -18 | c.266 others(35): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69810257 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01123.hp2 HG01167.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0057 others(54): Show |
57 | 226 | 0.2522 | -18 | c.397 others(39): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69849080 | TATACACA others(11): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 226 | 0.0044 | -18 | c.397 others(39): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69849082 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 226 | 0.0044 | -18 | c.397 others(39): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69856254 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 226 | 0.0044 | -18 | c.397 others(39): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69910370 | AGAGAGTG others(11): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 226 | 0.0044 | -18 | c.397 others(37): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69978318 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0137 a0001c0001t0001g0140 others(6): Show |
9 | 226 | 0.0398 | -18 | c.502 others(37): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDEM1_chr3_5182707_5224958 | 5222192 | ACTCCAGA others(11): Show |
A | downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 374 | 0.0027 | -18 | c.*62 others(29): Show |
EDEM1 | ENSG00000134109.11 | transcript | ENST00000256497.9 | protein_coding | 2235 | chr3 | TogoVar | |||||||
EDEM3_chr1_184685237_184759858 | 184744249 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02976.hp2 NA18975.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0003t0017 | a0001c0001t0001g0144 a0001c0001t0007g0142 a0001c0003t0017g0143 others(1): Show |
4 | 324 | 0.0124 | -18 | c.204 others(35): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 2/19 | chr1 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84160742 | TTTCTTTC others(11): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01261.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0048 a0001c0001t0002g0117 a0001c0001t0003g0125 others(1): Show |
4 | 158 | 0.0253 | -18 | c.355 others(37): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84369233 | CATACACA others(11): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0150 | 1 | 158 | 0.0063 | -18 | c.67+ others(35): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124768100 | GCAGAGGG others(11): Show |
G | intron_variant | MODIFIER | HG02738.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0348 a0001c0001t0006g0349 |
2 | 358 | 0.0056 | -18 | c.400 others(35): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124770646 | GGAGTACA others(11): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0306 | 1 | 358 | 0.0028 | -18 | c.399 others(35): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT3_chr12_57767614_57787541 | 57784916 | CTTTTTTT others(11): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 362 | 0.0028 | -18 | c.*42 others(29): Show |
EEF1AKMT3 | ENSG00000123427.17 | transcript | ENST00000300209.13 | protein_coding | 2376 | chr12 | TogoVar | |||||||
EEF1AKMT4_chr3_184244672_184263759 | 184263637 | AAGAGAGA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01175.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 a0001c0002t0001g0063 a0001c0002t0001g0073 others(1): Show |
5 | 378 | 0.0132 | -18 | c.*50 others(29): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 4879 | chr3 | TogoVar | |||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01978.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0126 a0001c0001t0001g0289 others(2): Show |
6 | 442 | 0.0136 | -18 | c.87+ others(33): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
EEF2KMT_chr16_5079284_5102795 | 5089601 | GGCTTGCA others(11): Show |
G | intron_variant | MODIFIER | NA18981.hp2 | a0013 | a0013c0032 | a0013c0032t0002 | a0013c0032t0002g0289 | 1 | 442 | 0.0023 | -18 | c.743 others(33): Show |
EEF2KMT | ENSG00000118894.15 | transcript | ENST00000427587.9 | protein_coding | 6/7 | chr16 | TogoVar | |||||||
EEIG1_chr9_127935582_127985989 | 127965106 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp2 HG02647.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 a0001c0002t0002g0064 |
3 | 342 | 0.0088 | -18 | c.147 others(37): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
EEIG2_chr1_108555100_108644322 | 108625770 | CTCTCTGT others(11): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0175 | 1 | 272 | 0.0037 | -18 | c.556 others(35): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EEIG2_chr1_108555100_108644322 | 108625774 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01169.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(3): Show |
6 | 272 | 0.0221 | -18 | c.556 others(35): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36150958 | TGTGTGTG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01074.hp1 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0179 a0001c0001t0001g0262 a0001c0001t0001g0289 others(50): Show |
53 | 346 | 0.1532 | -18 | c.-29 others(29): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2295 | chr7 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36252829 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0226 | 1 | 346 | 0.0029 | -18 | c.930 others(37): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105570226 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0091 a0001c0003t0003g0067 |
3 | 428 | 0.0070 | -18 | c.107 others(33): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
EFCAB10_chr7_105560124_105586493 | 105570228 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02559.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0003 | a0001c0001t0003g0002 a0001c0001t0003g0030 a0001c0001t0003g0092 others(3): Show |
11 | 428 | 0.0257 | -18 | c.107 others(33): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
EFCAB10_chr7_105560124_105586493 | 105570230 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 428 | 0.0023 | -18 | c.107 others(33): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89886527 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG03209.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012 | a0001c0001t0008g0239 a0001c0001t0012g0238 |
2 | 284 | 0.0070 | -18 | c.410 others(37): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89917080 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0006others(3): Show | a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0002g0276 others(7): Show |
10 | 284 | 0.0352 | -18 | c.410 others(37): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB13_chr17_47318955_47446312 | 47325923 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00673.hp2 others(46): Show |
a0001a0008 | a0001c0001a0001c0027a0008c0011 | a0001c0001t0001a0001c0027t0001a0008c0011t0001 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(46): Show |
49 | 356 | 0.1376 | -18 | c.-24 others(35): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |