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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3_chr10_132060946_132189858 | 132159844 | T | TGGGGGAG others(20): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0135 | 1 | 149 | 0.0067 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160049 | G | GCTGGTGG others(20): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0008 | 1 | 156 | 0.0064 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160080 | G | GGGAGGGT others(20): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03130.hp2 |
a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0157 a0002c0010t0002g0158 |
2 | 148 | 0.0135 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160341 | T | TGGGGGCG others(20): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0122 | 1 | 73 | 0.0137 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160424 | A | AGCCTCTT others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 NA20300.hp1 |
a0002 | a0002c0010 | a0002c0010t0009 | a0002c0010t0009g0086 a0002c0010t0009g0089 |
2 | 114 | 0.0175 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160495 | T | TGGGGGCG others(20): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0137 | 1 | 118 | 0.0085 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160900 | C | CCTCTTCC others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02015.hp1 HG02074.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0002c0023others(7): Show | a0001c0001t0002a0001c0001t0020a0001c0015t0002others(9): Show | a0001c0001t0002g0026 a0001c0001t0002g0113 a0001c0001t0002g0156 others(13): Show |
16 | 107 | 0.1495 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161074 | T | TGGGGGGG others(20): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02280.hp2 HG03927.hp2 |
a0001a0004 | a0001c0001a0001c0015a0004c0009 | a0001c0001t0002a0001c0015t0005a0004c0009t0002 | a0001c0001t0002g0105 a0001c0015t0005g0141 a0004c0009t0002g0065 |
3 | 143 | 0.0210 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161577 | A | ATCTCTCC others(20): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03098.hp1 NA20300.hp2 |
a0001a0002a0004 | a0001c0019a0002c0029a0004c0011 | a0001c0019t0014a0002c0029t0014a0004c0011t0038 | a0001c0019t0014g0085 a0002c0029t0014g0053 a0004c0011t0038g0059 |
3 | 141 | 0.0213 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161578 | T | CCTCTCCC others(20): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0143 | 1 | 154 | 0.0065 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132161604 | G | GTCTCTCC others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0013others(19): Show | a0001c0001t0001a0001c0006t0024a0001c0013t0001others(22): Show | a0001c0001t0001g0117 a0001c0006t0024g0155 a0001c0013t0001g0130 others(41): Show |
44 | 151 | 0.2914 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161631 | G | GTCTCTCC others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(24): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0015a0003c0002others(9): Show | a0001c0001t0002a0001c0001t0020a0001c0015t0001others(13): Show | a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0113 others(24): Show |
27 | 99 | 0.2727 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161658 | A | ATCTCTCC others(20): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02922.hp2 HG02965.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0013a0001c0022a0002c0010others(3): Show | a0001c0013t0023a0001c0022t0002a0002c0010t0002others(3): Show | a0001c0013t0023g0078 a0001c0022t0002g0080 a0002c0010t0002g0157 others(4): Show |
7 | 141 | 0.0496 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161702 | G | GCTGGGGG others(20): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0072 | 1 | 156 | 0.0064 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161712 | A | ATCTCTCC others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02630.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0017others(3): Show | a0001c0001t0003a0001c0006t0016a0001c0017t0003others(3): Show | a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0006t0016g0147 others(5): Show |
8 | 148 | 0.0541 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161762 | G | GGGTATCT others(20): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0026 | a0002c0026t0025 | a0002c0026t0025g0043 | 1 | 156 | 0.0064 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161794 | T | TCTCTCCC others(20): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0050 | a0005c0050t0032 | a0005c0050t0032g0116 | 1 | 155 | 0.0065 | 27 | c.222 others(46): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03516.hp2 NA18981.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0001c0001t0019a0005c0007t0025 | a0001c0001t0002g0300 a0001c0001t0019g0130 a0005c0007t0025g0131 |
3 | 146 | 0.0205 | 27 | c.67+ others(44): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0315 | 1 | 144 | 0.0069 | 27 | c.67+ others(44): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 NA19090.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0001c0001t0011a0002c0003t0007 | a0001c0001t0005g0216 a0001c0001t0011g0306 a0002c0003t0007g0145 |
3 | 146 | 0.0205 | 27 | c.67+ others(44): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25666315 | T | TTTATTAT others(20): Show |
intron_variant | MODIFIER | NA18972.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0296 a0001c0001t0011g0274 |
2 | 105 | 0.0190 | 27 | c.68- others(44): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JCHAIN_chr4_70650541_70671508 | 70667040 | A | ATATTTTG others(20): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0037 a0001c0001t0008g0038 |
4 | 358 | 0.0112 | 27 | c.-57 others(36): Show |
JCHAIN | ENSG00000132465.12 | transcript | ENST00000254801.9 | protein_coding | 533 | chr4 | TogoVar | |||||||
JCHAIN_chr4_70650541_70671508 | 70667065 | A | ATGTATTT others(20): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01515.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show |
17 | 306 | 0.0556 | 27 | c.-60 others(36): Show |
JCHAIN | ENSG00000132465.12 | transcript | ENST00000254801.9 | protein_coding | 558 | chr4 | TogoVar | |||||||
JKAMP_chr14_59479517_59510410 | 59502750 | A | ATTTTTGT others(20): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 others(1): Show |
4 | 338 | 0.0118 | 27 | c.718 others(44): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JKAMP_chr14_59479517_59510410 | 59502750 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 335 | 0.0030 | 27 | c.718 others(44): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63277731 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 68 | 0.0147 | 27 | c.334 others(46): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63292144 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02071.hp2 NA18957.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0174 a0003c0003t0001g0184 a0003c0003t0001g0186 others(1): Show |
4 | 77 | 0.0519 | 27 | c.334 others(46): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337624 | A | AAAAGAAA others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0127 |
2 | 161 | 0.0124 | 27 | c.333 others(46): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63387629 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 9 | 0.1111 | 27 | c.169 others(44): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JMJD6_chr17_76713451_76731606 | 76728412 | A | ATTTGTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0077 |
2 | 416 | 0.0048 | 27 | c.-19 others(38): Show |
JMJD6 | ENSG00000070495.15 | transcript | ENST00000397625.9 | protein_coding | 1807 | chr17 | TogoVar | |||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0003g0025 |
2 | 94 | 0.0213 | 27 | c.65- others(42): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JMJD8_chr16_676670_689334 | 679989 | T | TGCTGGGG others(20): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 360 | 0.0028 | 27 | c.*28 others(38): Show |
JMJD8 | ENSG00000161999.13 | transcript | ENST00000609261.6 | protein_coding | 1680 | chr16 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79270614 | G | GTTTATAT others(20): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02809.hp1 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0008a0003c0005t0025 | a0003c0005t0008g0189 a0003c0005t0008g0190 a0003c0005t0008g0192 others(4): Show |
7 | 195 | 0.0359 | 27 | c.103 others(46): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44114954 | A | ACAGAGCA others(20): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0158 | 1 | 336 | 0.0030 | 27 | c.201 others(43): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87659374 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0214 | 1 | 210 | 0.0048 | 27 | c.116 others(48): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JRK_chr8_142652460_142674967 | 142670130 | G | GAGAGGCA others(20): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0184 | 1 | 418 | 0.0024 | 27 | c.-66 others(36): Show |
JRK | ENSG00000234616.9 | transcript | ENST00000612905.2 | protein_coding | 164 | chr8 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124265298 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02897.hp2 others(1): Show |
a0001a0008 | a0001c0008a0001c0026a0008c0045 | a0001c0008t0004a0001c0026t0006a0008c0045t0010 | a0001c0008t0004g0028 a0001c0008t0004g0029 a0001c0026t0006g0110 others(1): Show |
4 | 34 | 0.1176 | 27 | c.456 others(42): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 4/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124286082 | C | CCTTCCTT others(20): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0030 | 1 | 11 | 0.0909 | 27 | c.970 others(46): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124580947 | A | AAATAATA others(20): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0076 | a0002c0076t0001 | a0002c0076t0001g0067 | 1 | 85 | 0.0118 | 27 | c.518 others(48): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124642806 | G | GTTGTTTT others(20): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19077.hp2 |
a0001a0005 | a0001c0018a0005c0048 | a0001c0018t0026a0005c0048t0003 | a0001c0018t0026g0072 a0005c0048t0003g0007 |
2 | 23 | 0.0870 | 27 | c.566 others(46): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 598620 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0199 | 1 | 52 | 0.0192 | 27 | c.-83 others(46): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46075446 | T | TGAACCCA others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(19): Show |
22 | 320 | 0.0688 | 27 | c.153 others(46): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 4/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0221 | 1 | 74 | 0.0135 | 27 | c.129 others(46): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 74 | 0.0135 | 27 | c.129 others(46): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 71 | 0.0141 | 27 | c.*37 others(38): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 71 | 0.0141 | 27 | c.*37 others(38): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 71 | 0.0141 | 27 | c.*37 others(38): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624134 | T | TATATATA others(20): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0224 |
2 | 356 | 0.0056 | 27 | c.*37 others(38): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3589 | chr16 | TogoVar | |||||||
KAT14_chr20_18132863_18193035 | 18177135 | C | CTGATTCT others(20): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0210 | 1 | 344 | 0.0029 | 27 | c.166 others(46): Show |
KAT14 | ENSG00000149474.15 | transcript | ENST00000688188.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20092235 | A | ATTTATTT others(20): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0254 | 1 | 222 | 0.0045 | 27 | c.431 others(44): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |