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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDNRA_chr4_147476097_147549954 | 147532325 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0187 | 1 | 280 | 0.0036 | 11 | c.549 others(26): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86260516 | A | ACTGCACC others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(253): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0016 others(201): Show |
256 | 392 | 0.6531 | 11 | c.634 others(28): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73524788 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 NA18522.hp2 |
a0001 | a0001c0005 | a0001c0005t0021 | a0001c0005t0021g0026 | 2 | 424 | 0.0047 | 11 | c.-38 others(22): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3757 | chr6 | TogoVar | |||||||
EEF1A1_chr6_73510750_73526032 | 73524788 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 424 | 0.0024 | 11 | c.-38 others(22): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3757 | chr6 | TogoVar | |||||||
EEF1A1_chr6_73510750_73526032 | 73524789 | T | TATATATA others(4): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01106.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0014 | a0001c0001t0003g0003 a0001c0004t0014g0048 |
10 | 424 | 0.0236 | 11 | c.-38 others(22): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3758 | chr6 | TogoVar | |||||||
EEF1AKMT1_chr13_20723731_20778961 | 20747462 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0262 | 1 | 348 | 0.0029 | 11 | c.145 others(28): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
EEF1AKMT1_chr13_20723731_20778961 | 20748715 | G | GGTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0189 | 1 | 348 | 0.0029 | 11 | c.144 others(28): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
EEF1AKMT1_chr13_20723731_20778961 | 20748722 | T | TTTTTGTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00733.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0113 others(6): Show |
10 | 348 | 0.0287 | 11 | c.144 others(28): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
EEF1AKMT1_chr13_20723731_20778961 | 20748722 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03688.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0126 |
3 | 348 | 0.0086 | 11 | c.144 others(28): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
EEF1AKMT1_chr13_20723731_20778961 | 20748723 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 348 | 0.0029 | 11 | c.144 others(28): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
EEF1AKMT1_chr13_20723731_20778961 | 20764918 | C | CACACACA others(4): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 348 | 0.0029 | 11 | c.-19 others(28): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769218 | C | CACAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01361.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0016 | a0001c0001t0001g0100 a0001c0001t0007g0107 a0001c0001t0016g0117 |
3 | 358 | 0.0084 | 11 | c.400 others(28): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124774406 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 a0001c0001t0001g0350 |
2 | 358 | 0.0056 | 11 | c.399 others(26): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124791801 | A | AGCGCCAC others(4): Show |
frameshift_variant | HIGH | NA18970.hp1 | a0005 | a0005c0003 | a0005c0003t0002 | a0005c0003t0002g0015 | 1 | 358 | 0.0028 | 11 | c.22_ others(16): Show |
p.Ala others(4): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 1/7 | 86/3599 | 32/876 | 11/291 | chr10 | TogoVar | |||
EEF1AKMT4_chr3_184244672_184263759 | 184256272 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp1 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0088 others(27): Show |
59 | 378 | 0.1561 | 11 | c.197 others(28): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEF1AKMT4_chr3_184244672_184263759 | 184256272 | C | CAGAAAAA others(4): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0094 | 1 | 378 | 0.0027 | 11 | c.197 others(28): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEF1AKMT4_chr3_184244672_184263759 | 184263686 | A | AGAGAGAG others(4): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG03491.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0137 a0001c0002t0001g0009 |
2 | 378 | 0.0053 | 11 | c.*51 others(22): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 4928 | chr3 | TogoVar | |||||||
EEF1B2_chr2_206154895_206167928 | 206165619 | C | CCAGGCGC others(4): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 360 | 0.0028 | 11 | c.*27 others(22): Show |
EEF1B2 | ENSG00000114942.15 | transcript | ENST00000392222.7 | protein_coding | 2692 | chr2 | TogoVar | |||||||
EEF1E1_chr6_8074395_8107548 | 8101225 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 442 | 0.0023 | 11 | c.87+ others(26): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18522.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0075 |
2 | 442 | 0.0045 | 11 | c.87+ others(26): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
EEF2K_chr16_22201278_22293738 | 22226517 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03516.hp1 HG03579.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001 | a0001c0001t0009g0023 a0001c0001t0009g0024 a0001c0001t0009g0025 others(3): Show |
6 | 290 | 0.0207 | 11 | c.246 others(26): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22289211 | T | TAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 a0001c0001t0002g0057 a0001c0001t0002g0058 others(2): Show |
5 | 290 | 0.0172 | 11 | c.*52 others(22): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 474 | chr16 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3978803 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0100 |
2 | 403 | 0.0050 | 11 | c.171 others(28): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 11/14 | chr19 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128150798 | T | TTATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 272 | 0.0037 | 11 | c.-27 others(22): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2682 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128151111 | G | GTATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0055 a0001c0001t0002g0056 others(1): Show |
4 | 272 | 0.0147 | 11 | c.-23 others(22): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2369 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128293660 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03017.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0010 a0001c0002t0001g0015 a0001c0002t0001g0022 others(1): Show |
4 | 272 | 0.0147 | 11 | c.786 others(30): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEIG1_chr9_127935582_127985989 | 127965106 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0050 | 1 | 342 | 0.0029 | 11 | c.147 others(30): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36151852 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(37): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0002 | a0001c0001t0004a0001c0001t0008a0001c0001t0012others(9): Show | a0001c0001t0004g0075 a0001c0001t0004g0200 a0001c0001t0004g0202 others(37): Show |
40 | 346 | 0.1156 | 11 | c.-20 others(22): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 1401 | chr7 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36198332 | A | AAAAAAGA others(4): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0033a0001c0004t0006others(1): Show | a0001c0001t0002g0012 a0001c0001t0033g0232 a0001c0004t0006g0013 others(2): Show |
5 | 346 | 0.0145 | 11 | c.879 others(30): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36248994 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG02976.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0113 a0001c0001t0004g0191 |
2 | 346 | 0.0058 | 11 | c.930 others(28): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 428 | 0.0023 | 11 | c.107 others(26): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89835643 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0250 | 1 | 284 | 0.0035 | 11 | c.411 others(30): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89921072 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0007a0001c0004t0001a0001c0004t0002others(6): Show | a0001c0001t0007g0231 a0001c0004t0001g0277 a0001c0004t0001g0278 others(10): Show |
13 | 284 | 0.0458 | 11 | c.410 others(30): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB13_chr17_47318955_47446312 | 47424874 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02683.hp1 HG03017.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0008 | a0001c0001t0001a0001c0006t0002a0003c0008t0004 | a0001c0001t0001g0090 a0001c0001t0001g0201 a0001c0006t0002g0099 others(1): Show |
4 | 356 | 0.0112 | 11 | c.249 others(30): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 244980040 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01099.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0005 others(21): Show |
24 | 290 | 0.0828 | 11 | c.25+ others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245084059 | T | TCCCCCCC others(4): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 290 | 0.0035 | 11 | c.373 others(26): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30096677 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG03453.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0097 a0004c0004t0002g0104 a0004c0004t0002g0105 |
3 | 248 | 0.0121 | 11 | c.432 others(30): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43586340 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01258.hp1 HG01884.hp1 others(3): Show |
a0002a0009 | a0002c0002a0009c0011 | a0002c0002t0001a0002c0002t0004a0009c0011t0001 | a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0144 others(3): Show |
6 | 290 | 0.0207 | 11 | c.303 others(30): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43614177 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02615.hp2 others(7): Show |
a0001a0002a0019others(1): Show | a0001c0001a0002c0002a0019c0032others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0083 a0001c0001t0002g0006 a0001c0001t0002g0007 others(7): Show |
10 | 290 | 0.0345 | 11 | c.256 others(30): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 21/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43643285 | G | GACACAAG others(4): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0032 | a0032c0046 | a0032c0046t0001 | a0032c0046t0001g0224 | 1 | 290 | 0.0035 | 11 | c.198 others(30): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 17/31 | chr22 | TogoVar | |||||||
EFCAB8_chr20_32853923_32966845 | 32875502 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0012 | a0012c0012 | a0012c0012t0004 | a0012c0012t0004g0109 | 1 | 284 | 0.0035 | 11 | c.209 others(26): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32935188 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03453.hp1 HG03471.hp2 |
a0019a0044 | a0019c0017a0044c0046 | a0019c0017t0007a0044c0046t0007 | a0019c0017t0007g0217 a0019c0017t0007g0228 a0044c0046t0007g0133 |
3 | 284 | 0.0106 | 11 | c.279 others(30): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32935192 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0256 | 1 | 284 | 0.0035 | 11 | c.279 others(30): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32939200 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 284 | 0.0035 | 11 | c.279 others(30): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19908598 | G | GAGAAGAA others(4): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0174 | 1 | 344 | 0.0029 | 11 | c.128 others(30): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19931128 | A | ACTGGGTG others(4): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 344 | 0.0029 | 11 | c.789 others(28): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 1/12 | chr3 | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44342875 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(17): Show |
a0001a0003a0007 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(17): Show |
20 | 221 | 0.0905 | 11 | c.42+ others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | TogoVar | |||||||
EFHD2_chr1_15404888_15435339 | 15415925 | A | AAGTGAAG others(4): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 424 | 0.0024 | 11 | c.308 others(28): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282509 | A | AAGAGGGA others(4): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 NA18522.hp2 NA19063.hp2 |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0072a0001c0002t0001a0005c0008t0003 | a0001c0001t0072g0005 a0001c0002t0001g0063 a0005c0008t0003g0064 |
3 | 294 | 0.0102 | 11 | c.-36 others(22): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3363 | chr19 | TogoVar | |||||||
EFNA2_chr19_1280873_1306431 | 1300241 | A | ATTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0004 | 1 | 294 | 0.0034 | 11 | c.*32 others(20): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 332 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |