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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDARADD_chr1_236389286_236489930 | 236405790 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02273.hp1 HG02683.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0049 a0001c0001t0001g0112 a0001c0001t0001g0170 others(8): Show |
11 | 294 | 0.0374 | 13 | c.62- others(28): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
EDARADD_chr1_236389286_236489930 | 236431927 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02523.hp1 HG02630.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0026a0002c0002t0001a0002c0002t0004 | a0001c0001t0026g0292 a0002c0002t0001g0261 a0002c0002t0004g0260 |
3 | 294 | 0.0102 | 13 | c.219 others(30): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDAR_chr2_108889471_108994220 | 108932528 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0104 | 1 | 226 | 0.0044 | 13 | c.-18 others(30): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
EDDM13_chr19_56267748_56315454 | 56273466 | A | AAAAAGAC others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(113): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0011 others(99): Show |
116 | 396 | 0.2929 | 13 | c.85+ others(26): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EDDM13_chr19_56267748_56315454 | 56302581 | C | CTCCCTCC others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0033 others(23): Show |
29 | 396 | 0.0732 | 13 | c.423 others(28): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
EDDM13_chr19_56267748_56315454 | 56302581 | C | CTCCCTCC others(6): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19002.hp2 NA19004.hp2 others(2): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0006 | a0001c0001t0001a0005c0005t0001a0006c0006t0001 | a0001c0001t0001g0064 a0001c0001t0001g0260 a0001c0001t0001g0270 others(2): Show |
5 | 396 | 0.0126 | 13 | c.423 others(28): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
EDEM3_chr1_184685237_184759858 | 184720509 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01081.hp2 others(10): Show |
a0001a0007 | a0001c0004a0007c0009 | a0001c0004t0004a0001c0004t0025a0007c0009t0024 | a0001c0004t0004g0262 a0001c0004t0004g0263 a0001c0004t0004g0264 others(10): Show |
13 | 324 | 0.0401 | 13 | c.951 others(28): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 9/19 | chr1 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84080298 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01256.hp2 HG01258.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0087 others(9): Show |
12 | 158 | 0.0760 | 13 | c.652 others(32): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84252493 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 158 | 0.0063 | 13 | c.196 others(30): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
EDIL3_chr5_83935554_84389880 | 84262659 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18969.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0019 | a0001c0001t0004g0022 a0001c0001t0009g0016 a0001c0001t0019g0155 |
3 | 158 | 0.0190 | 13 | c.68- others(28): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
EDN1_chr6_12285361_12302194 | 12294920 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 3 | 452 | 0.0066 | 13 | c.533 others(28): Show |
EDN1 | ENSG00000078401.7 | transcript | ENST00000379375.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EDN3_chr20_59295611_59330992 | 59306595 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 a0001c0001t0002g0107 |
2 | 398 | 0.0050 | 13 | c.365 others(30): Show |
EDN3 | ENSG00000124205.18 | transcript | ENST00000337938.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147504957 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01952.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(3): Show | a0001c0001t0002g0165 a0001c0001t0006g0229 a0001c0002t0002g0166 others(6): Show |
9 | 280 | 0.0321 | 13 | c.421 others(32): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147505327 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 a0001c0001t0008g0193 |
3 | 280 | 0.0107 | 13 | c.421 others(32): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147532325 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009 | a0001c0002t0004g0195 a0001c0002t0009g0005 |
3 | 280 | 0.0107 | 13 | c.549 others(28): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92806931 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 |
a0002 | a0002c0004 | a0002c0004t0015 | a0002c0004t0015g0203 a0002c0004t0015g0213 |
2 | 244 | 0.0082 | 13 | c.233 others(32): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 18/28 | chr12 | TogoVar | |||||||
EEA1_chr12_92765637_92934295 | 92869752 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0051 | 1 | 244 | 0.0041 | 13 | c.118 others(30): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar | |||||||
EEF1A1_chr6_73510750_73526032 | 73524788 | A | ATATATAT others(6): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 424 | 0.0047 | 13 | c.-38 others(24): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3757 | chr6 | TogoVar | |||||||
EEF1A1_chr6_73510750_73526032 | 73524789 | T | TATATATA others(6): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 4 | 424 | 0.0094 | 13 | c.-38 others(24): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3758 | chr6 | TogoVar | |||||||
EEF1AKMT1_chr13_20723731_20778961 | 20747462 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01070.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0051 others(8): Show |
11 | 348 | 0.0316 | 13 | c.145 others(30): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
EEF1AKMT1_chr13_20723731_20778961 | 20748727 | T | TGTTGTTG others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 348 | 0.0029 | 13 | c.144 others(30): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
EEF1AKMT1_chr13_20723731_20778961 | 20764917 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 348 | 0.0029 | 13 | c.-19 others(30): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769218 | C | CACAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 others(59): Show |
62 | 358 | 0.1732 | 13 | c.400 others(30): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT4_chr3_184244672_184263759 | 184256272 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01175.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0042 a0001c0002t0001g0073 a0002c0003t0001g0011 others(2): Show |
10 | 378 | 0.0265 | 13 | c.197 others(30): 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(6): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 378 | 0.0027 | 13 | c.*51 others(24): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 4928 | chr3 | TogoVar | |||||||
EEF1D_chr8_143574728_143602415 | 143596412 | C | CCCCACCC others(6): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 389 | 0.0026 | 13 | c.-15 others(28): Show |
EEF1D | ENSG00000104529.19 | transcript | ENST00000618139.4 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
EEF1E1_chr6_8074395_8107548 | 8099791 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 442 | 0.0023 | 13 | c.88- others(28): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
EEF2K_chr16_22201278_22293738 | 22226517 | C | CTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00741.hp2 others(55): Show |
a0002a0003a0006others(1): Show | a0002c0003a0002c0007a0003c0004others(4): Show | a0002c0003t0001a0002c0003t0003a0002c0003t0004others(15): Show | a0002c0003t0001g0127 a0002c0003t0001g0224 a0002c0003t0001g0225 others(55): Show |
58 | 290 | 0.2000 | 13 | c.246 others(28): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22226517 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19043.hp1 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0027a0007c0009t0004 | a0001c0001t0027g0191 a0007c0009t0004g0200 |
2 | 290 | 0.0069 | 13 | c.246 others(28): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22289399 | T | TAAATAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02809.hp2 HG02895.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0002 a0003c0004t0005g0007 a0003c0004t0005g0011 others(5): Show |
8 | 290 | 0.0276 | 13 | c.*54 others(24): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 662 | chr16 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3978803 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0011a0001c0009t0001 | a0001c0001t0011g0102 a0001c0009t0001g0103 |
2 | 403 | 0.0050 | 13 | c.171 others(30): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 11/14 | chr19 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128293660 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01515.hp1 HG01516.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0001a0002c0008t0001 | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 others(4): Show |
7 | 272 | 0.0257 | 13 | c.786 others(32): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEIG2_chr1_108555100_108644322 | 108579796 | A | AGAGAGAG others(6): Show |
intron_variant | MODIFIER | HG02155.hp2 HG04228.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0124 |
3 | 272 | 0.0110 | 13 | c.137 others(32): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36151852 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0002 | a0003c0002t0020 | a0003c0002t0020g0057 | 1 | 346 | 0.0029 | 13 | c.-20 others(24): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 1401 | chr7 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36248994 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03486.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0014 | a0001c0001t0001g0310 a0001c0001t0008g0221 a0001c0001t0014g0307 |
3 | 346 | 0.0087 | 13 | c.930 others(30): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36271720 | C | CTTCTAGG others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(177): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0092 others(177): Show |
180 | 346 | 0.5202 | 13 | c.931 others(30): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 428 | 0.0023 | 13 | c.107 others(28): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 428 | 0.0023 | 13 | c.107 others(28): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
EFCAB13_chr17_47318955_47446312 | 47390910 | G | GTCTTATC others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0140 | 1 | 356 | 0.0028 | 13 | c.158 others(30): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47390914 | G | GTCTTATC others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG03471.hp1 others(5): Show |
a0003a0007a0016 | a0003c0004a0007c0009a0016c0022 | a0003c0004t0002a0007c0009t0001a0016c0022t0001 | a0003c0004t0002g0217 a0003c0004t0002g0227 a0003c0004t0002g0231 others(5): Show |
8 | 356 | 0.0225 | 13 | c.158 others(30): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47424874 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01256.hp2 HG02148.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0016a0001c0026others(2): Show | a0001c0001t0001a0001c0016t0001a0001c0026t0001others(2): Show | a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0189 others(11): Show |
14 | 356 | 0.0393 | 13 | c.249 others(32): 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(6): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG00738.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0089 others(27): Show |
30 | 290 | 0.1035 | 13 | c.25+ others(28): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30096677 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0098 | 1 | 248 | 0.0040 | 13 | c.432 others(32): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43614177 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00621.hp1 others(30): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0023a0002c0002others(6): Show | a0001c0001t0001a0001c0023t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0039 others(30): Show |
33 | 290 | 0.1138 | 13 | c.256 others(32): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 21/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43656813 | G | GGAGGCTA others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(71): Show |
a0001a0008a0029others(2): Show | a0001c0001a0001c0013a0001c0049others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0013t0001others(7): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(71): Show |
74 | 290 | 0.2552 | 13 | c.198 others(34): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 17/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43789883 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0075 | 1 | 290 | 0.0035 | 13 | c.-7- others(28): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 2/31 | chr22 | TogoVar | |||||||
EFCAB8_chr20_32853923_32966845 | 32905759 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01243.hp1 HG01261.hp2 others(29): Show |
a0002a0003a0004others(10): Show | a0002c0002a0002c0011a0003c0004others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(16): Show | a0002c0002t0001g0093 a0002c0002t0001g0128 a0002c0002t0001g0129 others(29): Show |
32 | 284 | 0.1127 | 13 | c.108 others(30): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32935188 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18906.hp2 |
a0002a0009 | a0002c0043a0009c0042 | a0002c0043t0001a0009c0042t0001 | a0002c0043t0001g0198 a0009c0042t0001g0251 |
2 | 284 | 0.0070 | 13 | c.279 others(32): 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(6): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0026 | a0026c0028 | a0026c0028t0005 | a0026c0028t0005g0258 | 1 | 284 | 0.0035 | 13 | c.279 others(32): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFHB_chr3_19874472_19939217 | 19892883 | A | AAATAAAA others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01070.hp2 HG01071.hp1 others(58): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0020others(13): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(15): Show | a0001c0001t0002g0218 a0001c0001t0002g0260 a0002c0002t0001g0093 others(57): Show |
61 | 344 | 0.1773 | 13 | c.172 others(32): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 9/12 | chr3 | TogoVar |