Datasets:
split large_stringclasses 1
value | source_index int64 1 32.7k | pair_id large_stringlengths 19 19 | component_id large_stringlengths 15 15 | sequence large_stringlengths 170 170 | alt_sequence large_stringlengths 170 170 | label bool 2
classes | delta_psi float32 -1 0.48 ⌀ | delta_psi_rep1 float32 -1 0.54 ⌀ | delta_psi_rep2 float32 -1 0.53 ⌀ | ref_inclusion float32 0.5 1 | alt_inclusion float32 0 1 ⌀ | chrom large_stringclasses 24
values | position int64 155k 248M | ref large_stringclasses 4
values | alt large_stringclasses 4
values | strand large_stringclasses 2
values | variant_offset int64 10 159 | exon_start int64 41 81 | exon_end int64 99 140 | region large_stringclasses 3
values | splice_site_offset int64 -53 52 | assay_hg38_alignment large_stringclasses 3
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
test | 1 | ENSE00000332835_007 | ENSE00000332835 | GAGGGAGCATGCTTCAGGCAGCCCTTCCGGCATCTACCAGCCATGCCTGCTTTCTCCCACAGGAGGTGAAGGACACAGTGGATGGGCAGAGGATCCTGGAGAAGAAGGGCAGTGCTGCGGTAAGACAGAGCGGTGCCCAAGCACGGCTCCCTCCTACCTGTAGCCTCCCT | GAGGGAGCATGCTTCAGGCAGCCCTTCCAGCATCTACCAGCCATGCCTGCTTTCTCCCACAGGAGGTGAAGGACACAGTGGATGGGCAGAGGATCCTGGAGAAGAAGGGCAGTGCTGCGGTAAGACAGAGCGGTGCCCAAGCACGGCTCCCTCCTACCTGTAGCCTCCCT | false | 0.044049 | -0.05348 | 0.141578 | 0.830145 | 0.874194 | chrX | 48,981,506 | C | T | - | 28 | 62 | 119 | upstream_intron | -34 | exact |
test | 3 | ENSE00000338771_002 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGAGCAGGTGGCAGGCAAAAAC | true | -0.702978 | -0.599316 | -0.806641 | 0.712929 | 0.009951 | chr15 | 40,737,617 | C | T | - | 150 | 41 | 140 | downstream_intron | 11 | exact |
test | 4 | ENSE00000338771_003 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAAAGGGGCAGGTGGCAGGCAAAAAC | false | 0.228068 | 0.268491 | 0.187646 | 0.712929 | 0.940997 | chr15 | 40,737,621 | C | T | - | 146 | 41 | 140 | downstream_intron | 7 | exact |
test | 5 | ENSE00000338771_006 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCAACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | false | 0.17361 | 0.181799 | 0.165421 | 0.712929 | 0.886539 | chr15 | 40,737,661 | G | T | - | 106 | 41 | 140 | exon | -34 | exact |
test | 6 | ENSE00000338771_008 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCTTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | false | 0.192334 | 0.328778 | 0.055889 | 0.712929 | 0.905263 | chr15 | 40,737,671 | G | A | - | 96 | 41 | 140 | exon | -44 | exact |
test | 7 | ENSE00000338771_009 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAACCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | false | 0.112498 | 0.239317 | -0.01432 | 0.712929 | 0.825427 | chr15 | 40,737,674 | C | T | - | 93 | 41 | 140 | exon | -47 | exact |
test | 8 | ENSE00000338771_010 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTAGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | true | -0.659868 | -0.587876 | -0.73186 | 0.712929 | 0.053061 | chr15 | 40,737,679 | A | T | - | 88 | 41 | 140 | exon | 48 | exact |
test | 9 | ENSE00000338771_012 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAACACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | false | 0.087071 | 0.181799 | -0.007657 | 0.712929 | 0.8 | chr15 | 40,737,697 | T | G | - | 70 | 41 | 140 | exon | 30 | exact |
test | 10 | ENSE00000338771_013 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGGAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | false | 0.087071 | 0.181799 | -0.007657 | 0.712929 | 0.8 | chr15 | 40,737,704 | T | C | - | 63 | 41 | 140 | exon | 23 | exact |
test | 11 | ENSE00000338771_014 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTGGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | false | 0.151763 | 0.162933 | 0.140592 | 0.712929 | 0.864692 | chr15 | 40,737,706 | T | C | - | 61 | 41 | 140 | exon | 21 | exact |
test | 12 | ENSE00000338771_016 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCGCCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | false | 0.087071 | 0.181799 | -0.007657 | 0.712929 | 0.8 | chr15 | 40,737,719 | T | C | - | 48 | 41 | 140 | exon | 8 | exact |
test | 13 | ENSE00000338771_021 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACACCTCGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | false | 0.090987 | 0.189631 | -0.007657 | 0.712929 | 0.803916 | chr15 | 40,737,743 | A | G | - | 24 | 41 | 140 | upstream_intron | -17 | exact |
test | 14 | ENSE00000338771_022 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACACCCCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | false | 0.063473 | 0.129764 | -0.002818 | 0.712929 | 0.776402 | chr15 | 40,737,747 | T | G | - | 20 | 41 | 140 | upstream_intron | -21 | exact |
test | 15 | ENSE00000338771_023 | ENSE00000338771 | TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | TTTTAAAACCTCTTATACGCACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC | false | 0.069215 | 0.181799 | -0.043368 | 0.712929 | 0.782144 | chr15 | 40,737,749 | T | C | - | 18 | 41 | 140 | upstream_intron | -23 | exact |
test | 17 | ENSE00000373145_001 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGCGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | 0.015625 | 0.027751 | 0.003499 | 0.984291 | 0.999916 | chr14 | 93,686,543 | T | C | + | 16 | 45 | 135 | upstream_intron | -29 | exact |
test | 18 | ENSE00000373145_002 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACTCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | 0.015548 | 0.02743 | 0.003667 | 0.984291 | 0.99984 | chr14 | 93,686,549 | C | T | + | 22 | 45 | 135 | upstream_intron | -23 | exact |
test | 19 | ENSE00000373145_003 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCAAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | 0.000293 | 0.027751 | -0.027164 | 0.984291 | 0.984585 | chr14 | 93,686,550 | C | A | + | 23 | 45 | 135 | upstream_intron | -22 | exact |
test | 20 | ENSE00000373145_004 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTATTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | 0.015709 | 0.027751 | 0.003667 | 0.984291 | 1 | chr14 | 93,686,565 | G | A | + | 38 | 45 | 135 | upstream_intron | -7 | exact |
test | 21 | ENSE00000373145_005 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGCGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | 0.015709 | 0.027751 | 0.003667 | 0.984291 | 1 | chr14 | 93,686,574 | T | C | + | 47 | 45 | 135 | exon | 3 | exact |
test | 22 | ENSE00000373145_006 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCAATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | 0.012514 | 0.021362 | 0.003667 | 0.984291 | 0.996806 | chr14 | 93,686,586 | G | A | + | 59 | 45 | 135 | exon | 15 | exact |
test | 23 | ENSE00000373145_008 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAAGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | 0.015709 | 0.027751 | 0.003667 | 0.984291 | 1 | chr14 | 93,686,600 | G | A | + | 73 | 45 | 135 | exon | 29 | exact |
test | 24 | ENSE00000373145_009 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAGCGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | 0.011125 | 0.020319 | 0.001931 | 0.984291 | 0.995416 | chr14 | 93,686,612 | A | G | + | 85 | 45 | 135 | exon | 41 | exact |
test | 25 | ENSE00000373145_010 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAATGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | -0.017615 | -0.038196 | 0.002966 | 0.984291 | 0.966676 | chr14 | 93,686,613 | C | T | + | 86 | 45 | 135 | exon | 42 | exact |
test | 26 | ENSE00000373145_012 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGGACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | 0.015621 | 0.027751 | 0.003492 | 0.984291 | 0.999913 | chr14 | 93,686,641 | C | G | + | 114 | 45 | 135 | exon | -21 | exact |
test | 27 | ENSE00000373145_013 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACACTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | false | 0.015522 | 0.027751 | 0.003293 | 0.984291 | 0.999813 | chr14 | 93,686,646 | G | A | + | 119 | 45 | 135 | exon | -16 | exact |
test | 28 | ENSE00000373145_015 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACTGCCACCTGCTCATCCCTCAGGTTC | false | 0.007819 | 0.016284 | -0.000645 | 0.984291 | 0.992111 | chr14 | 93,686,672 | C | T | + | 145 | 45 | 135 | downstream_intron | 11 | exact |
test | 29 | ENSE00000373145_016 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCACCACCTGCTCATCCCTCAGGTTC | false | 0.011188 | 0.019194 | 0.003181 | 0.984291 | 0.995479 | chr14 | 93,686,673 | G | A | + | 146 | 45 | 135 | downstream_intron | 12 | exact |
test | 30 | ENSE00000373145_018 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCTCCTGCTCATCCCTCAGGTTC | false | 0.015709 | 0.027751 | 0.003667 | 0.984291 | 1 | chr14 | 93,686,676 | A | T | + | 149 | 45 | 135 | downstream_intron | 15 | exact |
test | 31 | ENSE00000373145_019 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCCGCTCATCCCTCAGGTTC | false | 0.015627 | 0.027751 | 0.003503 | 0.984291 | 0.999918 | chr14 | 93,686,679 | T | C | + | 152 | 45 | 135 | downstream_intron | 18 | exact |
test | 32 | ENSE00000373145_021 | ENSE00000373145 | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC | AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATTCCTCAGGTTC | false | 0.015709 | 0.027751 | 0.003667 | 0.984291 | 1 | chr14 | 93,686,686 | C | T | + | 159 | 45 | 135 | downstream_intron | 25 | exact |
test | 34 | ENSE00000377990_001 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGACTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | -0.02748 | 0.005283 | -0.060243 | 0.97903 | 0.95155 | chr19 | 45,266,175 | G | A | + | 12 | 62 | 119 | upstream_intron | -50 | exact |
test | 35 | ENSE00000377990_002 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGCTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | null | null | null | null | 0.97903 | null | chr19 | 45,266,183 | T | C | + | 20 | 62 | 119 | upstream_intron | -42 | exact |
test | 36 | ENSE00000377990_003 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAGCCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | -0.001117 | -0.013448 | 0.011213 | 0.97903 | 0.977912 | chr19 | 45,266,205 | A | G | + | 42 | 62 | 119 | upstream_intron | -20 | exact |
test | 37 | ENSE00000377990_004 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCACCCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | -0.030377 | -0.050589 | -0.010166 | 0.97903 | 0.948652 | chr19 | 45,266,205 | A | C | + | 42 | 62 | 119 | upstream_intron | -20 | exact |
test | 38 | ENSE00000377990_005 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTTGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | -0.174019 | -0.157612 | -0.190427 | 0.97903 | 0.80501 | chr19 | 45,266,232 | C | T | + | 69 | 62 | 119 | exon | 8 | exact |
test | 39 | ENSE00000377990_006 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCAGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | -0.07825 | -0.143455 | -0.013044 | 0.97903 | 0.90078 | chr19 | 45,266,233 | G | A | + | 70 | 62 | 119 | exon | 9 | exact |
test | 40 | ENSE00000377990_007 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTATGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | -0.153345 | -0.142093 | -0.164597 | 0.97903 | 0.825685 | chr19 | 45,266,237 | G | A | + | 74 | 62 | 119 | exon | 13 | exact |
test | 41 | ENSE00000377990_010 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGAGCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | -0.004112 | -0.012884 | 0.00466 | 0.97903 | 0.974918 | chr19 | 45,266,275 | C | G | + | 112 | 62 | 119 | exon | -7 | exact |
test | 42 | ENSE00000377990_012 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCTGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | 0.001433 | -0.012137 | 0.015003 | 0.97903 | 0.980463 | chr19 | 45,266,291 | C | T | + | 128 | 62 | 119 | downstream_intron | 10 | exact |
test | 43 | ENSE00000377990_014 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACTCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | -0.053848 | -0.1431 | 0.035403 | 0.97903 | 0.925181 | chr19 | 45,266,295 | C | T | + | 132 | 62 | 119 | downstream_intron | 14 | exact |
test | 44 | ENSE00000377990_015 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCTGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | 0.01626 | -0.002883 | 0.035403 | 0.97903 | 0.99529 | chr19 | 45,266,296 | C | T | + | 133 | 62 | 119 | downstream_intron | 15 | exact |
test | 45 | ENSE00000377990_016 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCACTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | false | -0.008876 | -0.003155 | -0.014597 | 0.97903 | 0.970154 | chr19 | 45,266,297 | G | A | + | 134 | 62 | 119 | downstream_intron | 16 | exact |
test | 46 | ENSE00000377990_017 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCTCGGCTCAGCCCACAGAC | false | 0.020451 | 0.005498 | 0.035403 | 0.97903 | 0.999481 | chr19 | 45,266,315 | A | T | + | 152 | 62 | 119 | downstream_intron | 34 | exact |
test | 47 | ENSE00000377990_018 | ENSE00000377990 | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC | CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACAGCTCAGCCCACAGAC | false | 0.005249 | -0.009631 | 0.020129 | 0.97903 | 0.984279 | chr19 | 45,266,317 | G | A | + | 154 | 62 | 119 | downstream_intron | 36 | exact |
test | 50 | ENSE00000379229_001 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTGCTAAGTATGGGATGAG | false | 0.029414 | -0.001562 | 0.060391 | 0.967973 | 0.997388 | chrX | 72,676,047 | T | C | - | 153 | 50 | 131 | downstream_intron | 23 | exact |
test | 51 | ENSE00000379229_002 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTTTACTAAGTATGGGATGAG | false | 0.028968 | -0.000979 | 0.058916 | 0.967973 | 0.996942 | chrX | 72,676,049 | C | A | - | 151 | 50 | 131 | downstream_intron | 21 | exact |
test | 52 | ENSE00000379229_003 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGCTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | false | 0.013293 | 0.00328 | 0.023306 | 0.967973 | 0.981267 | chrX | 72,676,083 | A | G | - | 117 | 50 | 131 | exon | -14 | exact |
test | 53 | ENSE00000379229_004 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCTGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | false | 0.031602 | 0.003662 | 0.059542 | 0.967973 | 0.999575 | chrX | 72,676,085 | T | A | - | 115 | 50 | 131 | exon | -16 | exact |
test | 54 | ENSE00000379229_005 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAAGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | false | 0.016623 | -0.000008 | 0.033255 | 0.967973 | 0.984597 | chrX | 72,676,111 | C | T | - | 89 | 50 | 131 | exon | 40 | exact |
test | 55 | ENSE00000379229_006 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCACGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | false | 0.032027 | 0.003662 | 0.060391 | 0.967973 | 1 | chrX | 72,676,112 | T | G | - | 88 | 50 | 131 | exon | 39 | exact |
test | 56 | ENSE00000379229_007 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATGTGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | false | 0.018456 | -0.021884 | 0.058797 | 0.967973 | 0.98643 | chrX | 72,676,139 | T | C | - | 61 | 50 | 131 | exon | 12 | exact |
test | 57 | ENSE00000379229_008 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTTGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | false | -0.01934 | -0.013474 | -0.025207 | 0.967973 | 0.948633 | chrX | 72,676,145 | G | A | - | 55 | 50 | 131 | exon | 6 | exact |
test | 58 | ENSE00000379229_009 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTACTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | false | 0.029967 | 0.000714 | 0.05922 | 0.967973 | 0.99794 | chrX | 72,676,161 | A | G | - | 39 | 50 | 131 | upstream_intron | -11 | exact |
test | 59 | ENSE00000379229_011 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAATCGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | false | -0.008083 | -0.076336 | 0.060171 | 0.967973 | 0.959891 | chrX | 72,676,174 | A | G | - | 26 | 50 | 131 | upstream_intron | -24 | exact |
test | 60 | ENSE00000379229_012 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTATGACTTGCTAACTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | false | 0.032027 | 0.003662 | 0.060391 | 0.967973 | 1 | chrX | 72,676,175 | A | G | - | 25 | 50 | 131 | upstream_intron | -25 | exact |
test | 61 | ENSE00000379229_014 | ENSE00000379229 | GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | GTATTTAGTAGTTACGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG | false | 0.031707 | 0.003023 | 0.060391 | 0.967973 | 0.99968 | chrX | 72,676,186 | A | G | - | 14 | 50 | 131 | upstream_intron | -36 | exact |
test | 64 | ENSE00000379234_001 | ENSE00000379234 | CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA | CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCTATAACATGTAGCTGA | false | 0.030167 | -0.0571 | 0.117434 | 0.936619 | 0.966785 | chrX | 72,653,418 | G | A | - | 154 | 42 | 138 | downstream_intron | 17 | exact |
test | 65 | ENSE00000379234_003 | ENSE00000379234 | CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA | CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCCCTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA | false | 0.063208 | 0.008106 | 0.11831 | 0.936619 | 0.999827 | chrX | 72,653,471 | T | G | - | 101 | 42 | 138 | exon | -37 | exact |
test | 66 | ENSE00000379234_005 | ENSE00000379234 | CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA | CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTGTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA | false | 0.054561 | -0.000942 | 0.110064 | 0.936619 | 0.99118 | chrX | 72,653,509 | G | C | - | 63 | 42 | 138 | exon | 22 | exact |
test | 68 | ENSE00000400053_001 | ENSE00000400053 | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCAGGGAATTGCCCAGGGTATAGGGAG | false | -0.015677 | -0.035283 | 0.003928 | 0.843303 | 0.827625 | chr7 | 151,215,943 | C | T | - | 145 | 59 | 122 | downstream_intron | 24 | exact |
test | 69 | ENSE00000400053_002 | ENSE00000400053 | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCTGGGGAATTGCCCAGGGTATAGGGAG | false | 0.126781 | 0.073174 | 0.180389 | 0.843303 | 0.970084 | chr7 | 151,215,944 | G | A | - | 144 | 59 | 122 | downstream_intron | 23 | exact |
test | 70 | ENSE00000400053_003 | ENSE00000400053 | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTAGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | false | -0.043303 | -0.086647 | 0.000042 | 0.843303 | 0.8 | chr7 | 151,215,956 | C | T | - | 132 | 59 | 122 | downstream_intron | 11 | exact |
test | 71 | ENSE00000400053_004 | ENSE00000400053 | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGTCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | false | 0.128309 | 0.106577 | 0.150042 | 0.843303 | 0.971612 | chr7 | 151,215,959 | G | A | - | 129 | 59 | 122 | downstream_intron | 8 | exact |
test | 72 | ENSE00000400053_008 | ENSE00000400053 | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATGCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | false | 0.114244 | 0.073978 | 0.15451 | 0.843303 | 0.957547 | chr7 | 151,216,006 | G | C | - | 82 | 59 | 122 | exon | 24 | exact |
test | 73 | ENSE00000400053_011 | ENSE00000400053 | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | TATGTTTCTAACTGGGCTTCCTTTGTCTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | false | 0.107288 | 0.069637 | 0.144939 | 0.843303 | 0.95059 | chr7 | 151,216,062 | A | G | - | 26 | 59 | 122 | upstream_intron | -33 | exact |
test | 74 | ENSE00000400053_012 | ENSE00000400053 | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | TATGTTTCTAACTGGGCTTGCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | false | 0.149711 | 0.110067 | 0.189355 | 0.843303 | 0.993014 | chr7 | 151,216,069 | G | C | - | 19 | 59 | 122 | upstream_intron | -40 | exact |
test | 75 | ENSE00000400053_013 | ENSE00000400053 | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | TATGTTTCTAACTGAGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | false | 0.151439 | 0.10725 | 0.195628 | 0.843303 | 0.994742 | chr7 | 151,216,074 | C | T | - | 14 | 59 | 122 | upstream_intron | -45 | exact |
test | 76 | ENSE00000400053_014 | ENSE00000400053 | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | TATGTTTCTAACTAGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | false | 0.13055 | 0.075259 | 0.18584 | 0.843303 | 0.973852 | chr7 | 151,216,075 | C | T | - | 13 | 59 | 122 | upstream_intron | -46 | exact |
test | 77 | ENSE00000400053_015 | ENSE00000400053 | TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | TATGTTTCTAAATGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG | false | 0.130323 | 0.084434 | 0.176213 | 0.843303 | 0.973626 | chr7 | 151,216,077 | G | T | - | 11 | 59 | 122 | upstream_intron | -48 | exact |
test | 80 | ENSE00000406138_001 | ENSE00000406138 | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | TGGGTTCAGAGGAGAAAAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | false | 0.033425 | 0.061624 | 0.005226 | 0.966221 | 0.999646 | chr8 | 86,537,531 | C | A | + | 16 | 48 | 132 | upstream_intron | -32 | exact |
test | 81 | ENSE00000406138_003 | ENSE00000406138 | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGCAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | false | 0.032959 | 0.060691 | 0.005226 | 0.966221 | 0.999179 | chr8 | 86,537,560 | T | C | + | 45 | 48 | 132 | upstream_intron | -3 | exact |
test | 82 | ENSE00000406138_006 | ENSE00000406138 | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACTCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | false | 0.033567 | 0.061907 | 0.005226 | 0.966221 | 0.999788 | chr8 | 86,537,584 | C | T | + | 69 | 48 | 132 | exon | 22 | exact |
test | 83 | ENSE00000406138_007 | ENSE00000406138 | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACGTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | false | 0.01019 | 0.019776 | 0.000604 | 0.966221 | 0.976411 | chr8 | 86,537,590 | C | G | + | 75 | 48 | 132 | exon | 28 | exact |
test | 84 | ENSE00000406138_010 | ENSE00000406138 | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGACGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | false | 0.032673 | 0.062332 | 0.003013 | 0.966221 | 0.998893 | chr8 | 86,537,616 | T | C | + | 101 | 48 | 132 | exon | -31 | exact |
test | 85 | ENSE00000406138_012 | ENSE00000406138 | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCGTCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | false | 0.033779 | 0.062332 | 0.005226 | 0.966221 | 1 | chr8 | 86,537,636 | A | G | + | 121 | 48 | 132 | exon | -11 | exact |
test | 86 | ENSE00000406138_013 | ENSE00000406138 | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATTGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | false | 0.008779 | 0.062332 | -0.044774 | 0.966221 | 0.975 | chr8 | 86,537,638 | C | T | + | 123 | 48 | 132 | exon | -9 | exact |
test | 87 | ENSE00000406138_014 | ENSE00000406138 | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCAGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC | false | -0.039916 | 0.062332 | -0.142164 | 0.966221 | 0.926305 | chr8 | 86,537,639 | G | A | + | 124 | 48 | 132 | exon | -8 | exact |
test | 89 | ENSE00000406871_001 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACGATCATAACTAATTCCTT | false | 0.015246 | 0.014757 | 0.015735 | 0.926475 | 0.941721 | chr17 | 28,585,303 | G | C | - | 152 | 44 | 137 | downstream_intron | 16 | exact |
test | 90 | ENSE00000406871_002 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGATCATCATAACTAATTCCTT | false | 0.013581 | 0.011467 | 0.015695 | 0.926475 | 0.940056 | chr17 | 28,585,304 | G | A | - | 151 | 44 | 137 | downstream_intron | 15 | exact |
test | 91 | ENSE00000406871_003 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGCGACCATCATAACTAATTCCTT | false | 0.059266 | 0.051954 | 0.066578 | 0.926475 | 0.985741 | chr17 | 28,585,307 | C | G | - | 148 | 44 | 137 | downstream_intron | 12 | exact |
test | 92 | ENSE00000406871_004 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATCTGGGACCATCATAACTAATTCCTT | null | null | null | null | 0.926475 | null | chr17 | 28,585,310 | A | G | - | 145 | 44 | 137 | downstream_intron | 9 | exact |
test | 93 | ENSE00000406871_005 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGTAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | true | -0.917749 | -0.933832 | -0.901667 | 0.926475 | 0.008726 | chr17 | 28,585,327 | G | A | - | 128 | 44 | 137 | exon | -9 | exact |
test | 94 | ENSE00000406871_006 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTAGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | true | -0.899329 | -0.930759 | -0.8679 | 0.926475 | 0.027146 | chr17 | 28,585,338 | C | T | - | 117 | 44 | 137 | exon | -20 | exact |
test | 95 | ENSE00000406871_007 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTAATTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | -0.128333 | -0.13857 | -0.118096 | 0.926475 | 0.798142 | chr17 | 28,585,359 | G | T | - | 96 | 44 | 137 | exon | -41 | exact |
test | 96 | ENSE00000406871_008 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTAGTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | -0.073351 | -0.09728 | -0.049422 | 0.926475 | 0.853124 | chr17 | 28,585,359 | G | C | - | 96 | 44 | 137 | exon | -41 | exact |
test | 97 | ENSE00000406871_009 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAATCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | 0.048706 | 0.040303 | 0.057109 | 0.926475 | 0.975182 | chr17 | 28,585,365 | C | T | - | 90 | 44 | 137 | exon | -47 | exact |
test | 98 | ENSE00000406871_010 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACCGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | 0.051959 | 0.032684 | 0.071234 | 0.926475 | 0.978434 | chr17 | 28,585,370 | T | G | - | 85 | 44 | 137 | exon | 42 | exact |
test | 99 | ENSE00000406871_011 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCATCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | 0.016345 | -0.000616 | 0.033305 | 0.926475 | 0.94282 | chr17 | 28,585,376 | C | A | - | 79 | 44 | 137 | exon | 36 | exact |
test | 100 | ENSE00000406871_012 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTGAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | -0.001167 | 0.01111 | -0.013443 | 0.926475 | 0.925309 | chr17 | 28,585,378 | G | C | - | 77 | 44 | 137 | exon | 34 | exact |
test | 101 | ENSE00000406871_013 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTAGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | true | -0.879929 | -0.871585 | -0.888274 | 0.926475 | 0.046546 | chr17 | 28,585,382 | C | T | - | 73 | 44 | 137 | exon | 30 | exact |
test | 102 | ENSE00000406871_014 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGAAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | 0.070456 | 0.058619 | 0.082293 | 0.926475 | 0.996931 | chr17 | 28,585,393 | G | T | - | 62 | 44 | 137 | exon | 19 | exact |
test | 103 | ENSE00000406871_015 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCACGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | -0.005525 | 0.011828 | -0.022879 | 0.926475 | 0.92095 | chr17 | 28,585,395 | T | G | - | 60 | 44 | 137 | exon | 17 | exact |
test | 104 | ENSE00000406871_016 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATACCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | 0.022306 | -0.002607 | 0.04722 | 0.926475 | 0.948782 | chr17 | 28,585,399 | C | T | - | 56 | 44 | 137 | exon | 13 | exact |
test | 105 | ENSE00000406871_017 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGTCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | 0.073525 | 0.064757 | 0.082293 | 0.926475 | 1 | chr17 | 28,585,406 | C | A | - | 49 | 44 | 137 | exon | 6 | exact |
test | 106 | ENSE00000406871_018 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTTTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | 0.025838 | 0.014757 | 0.03692 | 0.926475 | 0.952314 | chr17 | 28,585,415 | C | A | - | 40 | 44 | 137 | upstream_intron | -4 | exact |
test | 107 | ENSE00000406871_019 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTCGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | -0.125931 | -0.134155 | -0.117707 | 0.926475 | 0.800544 | chr17 | 28,585,416 | A | G | - | 39 | 44 | 137 | upstream_intron | -5 | exact |
test | 108 | ENSE00000406871_021 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAGTCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | true | -0.919808 | -0.92265 | -0.916965 | 0.926475 | 0.006668 | chr17 | 28,585,426 | T | C | - | 29 | 44 | 137 | upstream_intron | -15 | exact |
test | 109 | ENSE00000406871_022 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCCGCGTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | -0.105973 | -0.094239 | -0.117707 | 0.926475 | 0.820502 | chr17 | 28,585,433 | G | C | - | 22 | 44 | 137 | upstream_intron | -22 | exact |
test | 110 | ENSE00000406871_024 | ENSE00000406871 | TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | TCCAAAGGGAAGGGGTTCCTGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT | false | 0.041206 | 0.023916 | 0.058496 | 0.926475 | 0.967682 | chr17 | 28,585,436 | G | A | - | 19 | 44 | 137 | upstream_intron | -25 | exact |
test | 113 | ENSE00000411843_001 | ENSE00000411843 | TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA | TTGACATTCATTGTTGCAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA | false | 0.026201 | 0.027418 | 0.024984 | 0.971996 | 0.998197 | chr2 | 210,592,843 | A | G | + | 15 | 51 | 129 | upstream_intron | -36 | exact |
MFASS Splicing Variant Effects
This dataset packages 28,972 single-nucleotide variants from the Multiplexed Functional Assay of Splicing (MFASS) as one compact benchmark table.
Each row contains the exact 170 bp transcript-oriented assay sequence pair, native exon-inclusion measurements, assay-relative geometry, and canonical GRCh38 locus. Of the 28,972 rows, 27,733 are evaluable and 1,050 are labeled splice-disrupting variants.
Row identity: pair_id is the unique row key. sequence is deliberately
not unique: different tested variants in the same exon share the same
reference construct. The table contains 2,199 distinct reference sequence
values. Never deduplicate these rows by sequence.
Loading
from datasets import load_dataset
dataset = load_dataset("Taykhoom/mfass", split="test")
The Hugging Face split and the first row-level column, split, are both
test for consistency with DART-Eval datasets that also contain train rows.
Sequence and target contract
sequence carries the canonical hg38 reference allele and alt_sequence
carries the alternate allele. Both are the exact 170 bp constructs represented
in transcript orientation; therefore, on strand == "-", the base in the
sequence is the complement of the forward-genome ref or alt.
One source variant has a genuine hg19-to-hg38 reference swap. Its sequence order, inclusion measurements, and signed effects are reversed here so every row consistently means hg38 reference to alternate. Missing measurements and labels remain null.
The splice-disrupting-variant label is:
where delta_psi is alternate minus reference exon inclusion.
Columns
| Column | Description |
|---|---|
split |
Dataset partition. Always test; retained for DART-Eval schema consistency. |
source_index |
Zero-based row index in the pinned canonical MFASS source table. |
pair_id |
Stable unique identifier for the tested variant pair. |
component_id |
Ensembl exon identifier; use for grouped splits or bootstrap resampling. |
sequence |
Exact 170 bp transcript-oriented assay construct carrying the canonical hg38 reference allele. |
alt_sequence |
Matched 170 bp construct carrying the canonical hg38 alternate allele. |
label |
Nullable splice-disrupting label: delta_psi <= -0.50. |
delta_psi |
Alternate minus reference exon inclusion; the main quantitative target. |
delta_psi_rep1 |
Replicate-1 alternate-minus-reference effect. |
delta_psi_rep2 |
Replicate-2 alternate-minus-reference effect. |
ref_inclusion |
Exon inclusion measured for sequence. |
alt_inclusion |
Exon inclusion measured for alt_sequence. |
chrom |
GRCh38 chromosome using UCSC chr names. |
position |
1-based GRCh38 SNV position. |
ref |
Forward-genome GRCh38 reference allele. |
alt |
Forward-genome alternate allele. |
strand |
Corrected transcript orientation relative to GRCh38. |
variant_offset |
Zero-based focal-variant index within both 170 bp sequences. |
exon_start |
Zero-based exon start within the assay construct. |
exon_end |
Exclusive exon end within the assay construct. |
region |
Variant location: upstream_intron, exon, or downstream_intron. |
splice_site_offset |
Signed transcript-oriented offset from the relevant splice boundary. Upstream intron values are negative, downstream intron values are positive, and exonic values point inward from the nearest boundary. |
assay_hg38_alignment |
Whole-construct relation to the lifted GRCh38 interval: exact, substitution, or insertion. |
Genomic context
No arbitrary fixed genomic window is stored. Use chrom, 1-based position,
ref, and alt to extract whatever context length a model requires from the
pinned GRCh38 no-alt assembly GCA_000001405.15.
The complete lifted assay interval was validated against each construct.
Across 2,198 exons, 2,195 match exactly, two contain one assembly
substitution, and one contains one additional GRCh38 base. This becomes 28,930
exact, 32 substitution, and 10 insertion variant rows.
Published baseline reproduction
| Method | Rows | AUROC | Average precision |
|---|---|---|---|
| Pangolin | 27,733 | 0.8882 | 0.4208 |
| SpliceAI | 27,733 | 0.8193 | 0.3208 |
| SpliceTransformer | 27,733 | 0.7857 | 0.3174 |
| MMSplice | 27,733 | 0.7582 | 0.2558 |
| SPANR | 27,663 | 0.7479 | 0.2279 |
The exhaustive source, score, and alignment provenance is intentionally omitted from Hugging Face. Stable processing documentation and the internal reproducibility manifest are available at:
- Processing repository: https://github.com/TaykhoomDalal/MFASS-Processing/tree/main
- Processing guide: https://github.com/TaykhoomDalal/MFASS-Processing/blob/main/README.md
- Root manifest: https://github.com/TaykhoomDalal/MFASS-Processing/blob/main/manifest.json
The Hugging Face repository is intentionally limited to this card and the compact Parquet. The 92-column full table, 8-column metrics table, root manifest, and processing code remain in the processing repository.
Limitations
- This release starts from the authors' processed MFASS table; it does not reproduce raw-read processing.
- Published baseline scores are verified and re-evaluated, not regenerated by rerunning the five models.
- The assay strings are synthetic transcript-oriented minigene constructs, not arbitrary forward-genome windows. Two exons contain one assembly substitution and one exon contains one additional GRCh38 base.
- Labels and dPSI are null for 1,239 rows. SPANR has 70 additional missing scores among otherwise evaluable rows.
Sources and citation
Rockie Chong et al. A multiplexed assay for exon recognition reveals that an unappreciated fraction of rare genetic variants cause large-effect splicing disruptions. Molecular Cell 73, 183-194.e8 (2019). https://doi.org/10.1016/j.molcel.2018.10.037
Published baseline scores:
https://github.com/brhanufen/spliceconsensus
License
Artifact-level license status is NOASSERTION; the license: other metadata
does not grant a new license. The pinned MFASS repository and GEO record do
not state explicit redistribution terms for the processed measurements.
Users must review the original MFASS, SpliceConsensus/source-model, NCBI
reference, and publication terms. See the processing
NOTICE.md
for authoritative links.
Permission for third-party redistribution of the processed MFASS measurements and derivatives in this repackaged form remains unresolved; obtain clarification or permission from the MFASS rights holders before redistribution.
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