regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDN1_chr6_12285361_12302194 | 12299524 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02258.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(9): Show | 18 | 452 | 0.0398 | -5 | c.*34 others(16): Show |
EDN1 | ENSG00000078401.7 | transcript | ENST00000379375.6 | protein_coding | 2331 | chr6 | TogoVar | ||||||
EDN2_chr1_41473775_41489683 | 41483549 | ACTATC | A | intron_variant | MODIFIER | HG02615.hp1 HG02976.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0070 | 3 | 442 | 0.0068 | -5 | c.221 others(20): Show |
EDN2 | ENSG00000127129.10 | transcript | ENST00000372587.5 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147505216 | AGAGAG | A | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0002g0104a0001c0001t0003g0145a0001c0001t0003g0146others(4): Show | 7 | 280 | 0.0250 | -5 | c.421 others(24): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147505327 | ATTTTT | A | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02896.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0015a0001c0001t0016others(4): Show | a0001c0001t0011g0112a0001c0001t0015g0124a0001c0001t0015g0126others(11): Show | 16 | 280 | 0.0571 | -5 | c.421 others(24): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EDNRA_chr4_147476097_147549954 | 147508128 | CTTTAT | C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0001t0008g0007a0001c0001t0008g0192a0001c0001t0008g0193others(5): Show | 9 | 280 | 0.0321 | -5 | c.421 others(24): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EDNRA_chr4_147476097_147549954 | 147525627 | TAGGAG | T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02622.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0009a0001c0002t0010others(4): Show | a0001c0001t0011g0116a0001c0002t0009g0005a0001c0002t0010g0006others(8): Show | 13 | 280 | 0.0464 | -5 | c.548 others(22): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 3/7 | chr4 | TogoVar | ||||||
EDRF1_chr10_125714709_125769139 | 125745631 | TATCTC | T | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02723.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0168a0001c0001t0001g0169others(4): Show | 9 | 322 | 0.0280 | -5 | c.259 others(20): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EDRF1_chr10_125714709_125769139 | 125760532 | TAATAA | T | intron_variant | MODIFIER | HG02258.hp1 HG02818.hp1 HG02970.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0025a0001c0001t0001g0054a0001c0001t0001g0056others(1): Show | 5 | 322 | 0.0155 | -5 | c.354 others(24): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EEA1_chr12_92765637_92934295 | 92787736 | CAATTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02451.hp2 others(2): Show |
a0002a0008 | a0002c0004a0008c0014 | a0002c0004t0018a0002c0004t0041a0008c0014t0006 | a0002c0004t0018g0202a0002c0004t0018g0210a0002c0004t0018g0211others(2): Show | 5 | 244 | 0.0205 | -5 | c.315 others(22): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 22/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92831493 | TATATA | T | intron_variant | MODIFIER | HG01081.hp1 HG02273.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0094 | 3 | 244 | 0.0123 | -5 | c.125 others(24): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 11/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92842583 | TAACAA | T | splice_region_variant others(1): Show |
LOW | HG02895.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0240a0002c0004t0014g0241a0002c0004t0014g0242others(1): Show | 4 | 244 | 0.0164 | -5 | c.799 others(16): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 9/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92865714 | TTTTTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00639.hp1 others(78): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(28): Show | a0001c0001t0001g0056a0001c0001t0001g0066a0001c0001t0001g0074others(78): Show | 81 | 244 | 0.3320 | -5 | c.118 others(20): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92869752 | CAAAAA | C | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0014a0002c0004t0024 | a0002c0004t0014g0240a0002c0004t0014g0241a0002c0004t0014g0242others(2): Show | 5 | 244 | 0.0205 | -5 | c.118 others(22): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92922959 | AAAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(43): Show |
a0001a0002 | a0001c0012a0002c0003 | a0001c0012t0006a0002c0003t0002a0002c0003t0004others(4): Show | a0001c0012t0006g0157a0002c0003t0002g0001a0002c0003t0002g0013others(42): Show | 46 | 244 | 0.1885 | -5 | c.24+ others(20): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73518672 | TTCAAC | T | intron_variant | MODIFIER | HG02559.hp2 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 424 | 0.0071 | -5 | c.772 others(18): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73522606 | CTTTCT | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00741.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0003g0003others(3): Show | 25 | 424 | 0.0590 | -5 | c.-16 others(16): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 1575 | chr6 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20738905 | GATAGT | G | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01074.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0051a0001c0001t0001g0136a0001c0001t0001g0137others(30): Show | 33 | 348 | 0.0948 | -5 | c.145 others(22): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20743007 | TTTGAG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00733.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0024others(16): Show | 21 | 348 | 0.0603 | -5 | c.145 others(22): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20748721 | TTTTGG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0035others(75): Show | 80 | 348 | 0.2299 | -5 | c.144 others(22): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20754741 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(127): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0014others(123): Show | 130 | 348 | 0.3736 | -5 | c.144 others(22): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20769457 | ACTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00733.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(17): Show | 23 | 348 | 0.0661 | -5 | c.-20 others(22): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124792504 | GTTTGT | G | upstream_gene_variant | MODIFIER | NA18973.hp2 NA19058.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033a0001c0001t0002g0047a0001c0001t0002g0073 | 3 | 358 | 0.0084 | -5 | c.-67 others(14): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 618 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124795594 | CATTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01168.hp1 HG01943.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0018 | a0001c0001t0003g0016a0001c0001t0003g0018a0001c0001t0003g0019others(5): Show | 8 | 358 | 0.0224 | -5 | c.-37 others(16): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3708 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124795595 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(35): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0092a0001c0001t0001g0102a0001c0001t0001g0127others(35): Show | 38 | 358 | 0.1062 | -5 | c.-37 others(16): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3709 | chr10 | TogoVar | ||||||
EEF1AKMT4_chr3_184244672_184263759 | 184263636 | AAAGAG | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01358.hp1 HG01993.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0022others(3): Show | 8 | 378 | 0.0212 | -5 | c.*50 others(16): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 4878 | chr3 | TogoVar | ||||||
EEF1AKMT4_chr3_184244672_184263759 | 184263681 | GAGAGA | G | downstream_gene_variant | MODIFIER | HG01978.hp2 NA18982.hp1 NA18990.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0128a0001c0002t0001g0017a0001c0002t0001g0056others(1): Show | 4 | 378 | 0.0106 | -5 | c.*51 others(16): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 4923 | chr3 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8092868 | GCTTTT | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00621.hp1 others(56): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(37): Show | 59 | 442 | 0.1335 | -5 | c.289 others(22): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101244 | ATATAT | A | intron_variant | MODIFIER | HG01099.hp1 HG02300.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297a0001c0001t0001g0298a0001c0001t0001g0316others(1): Show | 4 | 442 | 0.0091 | -5 | c.87+ others(20): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF2KMT_chr16_5079284_5102795 | 5095385 | TCTCTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02818.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 4 | 442 | 0.0091 | -5 | c.159 others(18): Show |
EEF2KMT | ENSG00000118894.15 | transcript | ENST00000427587.9 | protein_coding | 2/7 | chr16 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22224643 | AAAAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00642.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0007others(5): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(18): Show | a0001c0001t0001g0255a0002c0003t0001g0127a0002c0003t0001g0222others(63): Show | 66 | 290 | 0.2276 | -5 | c.-76 others(20): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEFSEC_chr3_128148481_128413646 | 128149084 | CTGATA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0256a0001c0001t0001g0263others(1): Show | 4 | 272 | 0.0147 | -5 | c.-44 others(16): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4396 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128150997 | ATATAT | A | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02135.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0002g0057 | 3 | 272 | 0.0110 | -5 | c.-25 others(16): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 2483 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128162745 | TAAATC | T | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0232a0001c0002t0001g0015a0001c0002t0001g0062others(2): Show | 5 | 272 | 0.0184 | -5 | c.316 others(22): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEIG1_chr9_127935582_127985989 | 127965106 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG02071.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0010a0001c0003t0004g0115a0001c0003t0004g0116others(2): Show | 8 | 342 | 0.0234 | -5 | c.147 others(24): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 1/10 | chr9 | TogoVar | ||||||
EEIG2_chr1_108555100_108644322 | 108575942 | AGATAT | A | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01070.hp1 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0007others(79): Show | 86 | 272 | 0.3162 | -5 | c.137 others(24): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108580369 | AACCCT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(141): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(140): Show | 144 | 272 | 0.5294 | -5 | c.137 others(24): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108595891 | GTTTCT | G | intron_variant | MODIFIER | HG02559.hp1 HG02886.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0177a0001c0001t0010g0178a0001c0001t0010g0179others(2): Show | 5 | 272 | 0.0184 | -5 | c.138 others(22): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36153230 | AGCGGC | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0018others(31): Show | a0001c0001t0005g0015a0001c0001t0005g0021a0001c0001t0005g0025others(70): Show | 73 | 346 | 0.2110 | -5 | c.-63 others(14): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 23 | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36158358 | CTTAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01257.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0184a0001c0001t0002g0187a0001c0001t0003g0337others(27): Show | 30 | 346 | 0.0867 | -5 | c.878 others(22): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36161897 | CAAAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02451.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0001g0284a0001c0001t0005g0343a0001c0001t0009g0316others(7): Show | 10 | 346 | 0.0289 | -5 | c.878 others(22): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36165053 | TTTTAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0184a0001c0001t0001g0256a0001c0001t0001g0257others(86): Show | 89 | 346 | 0.2572 | -5 | c.878 others(22): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36172617 | GTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0002g0322others(21): Show | 24 | 346 | 0.0694 | -5 | c.878 others(24): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36198354 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG01081.hp1 others(51): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0082a0001c0001t0001g0092a0001c0001t0001g0117others(51): Show | 54 | 346 | 0.1561 | -5 | c.879 others(24): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36271798 | CCTATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00673.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0109a0001c0001t0001g0144a0001c0001t0001g0281others(34): Show | 37 | 346 | 0.1069 | -5 | c.931 others(22): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36292369 | CTTTTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp2 others(50): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0082a0001c0001t0001g0102a0001c0001t0001g0109others(50): Show | 53 | 346 | 0.1532 | -5 | c.131 others(24): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EFCAB10_chr7_105560124_105586493 | 105561100 | GAAAAA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(138): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(13): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(98): Show | 141 | 428 | 0.3294 | -5 | c.*43 others(16): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 4023 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105579990 | CTTTAT | C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(47): Show |
a0001 | a0001c0003a0001c0005a0001c0009others(1): Show | a0001c0003t0001a0001c0005t0001a0001c0009t0001others(1): Show | a0001c0003t0001g0004a0001c0003t0001g0024a0001c0003t0001g0061others(33): Show | 50 | 428 | 0.1168 | -5 | c.106 others(22): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105585555 | ATATAC | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(259): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(203): Show | 262 | 428 | 0.6122 | -5 | c.-40 others(16): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 4063 | chr7 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89792428 | TGAAAA | T | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01070.hp1 others(45): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0015a0001c0001t0030others(9): Show | a0001c0001t0003g0042a0001c0001t0003g0052a0001c0001t0003g0057others(45): Show | 48 | 284 | 0.1690 | -5 | c.*48 others(16): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 2240 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89842597 | AATATG | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(92): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0045a0001c0001t0001g0058a0001c0001t0001g0067others(92): Show | 95 | 284 | 0.3345 | -5 | c.411 others(24): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar |