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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JPT2_chr16_1673279_1707086 | 1677969 | GCAGGTGC others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 386 | 0.0026 | -11 | c.-34 others(20): Show |
JPT2 | ENSG00000206053.13 | transcript | ENST00000248098.8 | protein_coding | 309 | chr16 | TogoVar | ||||||
JRKL_chr11_96385013_96398561 | 96393439 | ATTGAAAC others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(85): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0003g0001a0001c0001t0005g0001a0001c0001t0005g0004others(3): Show | 88 | 428 | 0.2056 | -11 | c.*12 others(22): Show |
JRKL | ENSG00000183340.7 | transcript | ENST00000332349.5 | protein_coding | 2/2 | 1219 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
JUND_chr19_18274694_18286622 | 18276307 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 408 | 0.0025 | -11 | c.*41 others(22): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 3386 | chr19 | TogoVar | ||||||
JUP_chr17_41749609_41791711 | 41753527 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02135.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291a0001c0001t0001g0297 | 2 | 410 | 0.0049 | -11 | c.*22 others(22): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 1081 | chr17 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124044893 | CCTTCCTT others(4): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 |
a0001 | a0001c0032a0001c0039 | a0001c0032t0003a0001c0039t0001 | a0001c0032t0003g0090a0001c0039t0001g0091 | 2 | 116 | 0.0172 | -11 | c.73+ others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124170831 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG02071.hp1 HG02165.hp2 others(5): Show |
a0001a0003 | a0001c0006a0001c0008a0001c0009others(4): Show | a0001c0006t0001a0001c0008t0002a0001c0009t0001others(4): Show | a0001c0006t0001g0069a0001c0008t0002g0071a0001c0009t0001g0065others(5): Show | 8 | 116 | 0.0690 | -11 | c.74- others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124227663 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0042 | a0001c0042t0003 | a0001c0042t0003g0108 | 1 | 116 | 0.0086 | -11 | c.74- others(24): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124254422 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01243.hp2 HG02451.hp2 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0007a0001c0012others(7): Show | a0001c0002t0007a0001c0007t0003a0001c0012t0010others(8): Show | a0001c0002t0007g0020a0001c0007t0003g0101a0001c0012t0010g0078others(8): Show | 11 | 116 | 0.0948 | -11 | c.264 others(30): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 3/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124279223 | TGACTGTG others(4): Show |
T | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0035 | 1 | 116 | 0.0086 | -11 | c.969 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124411433 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp2 HG02647.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0011a0001c0059others(2): Show | a0001c0001t0003a0001c0011t0001a0001c0059t0014others(2): Show | a0001c0001t0003g0112a0001c0011t0001g0017a0001c0059t0014g0076others(2): Show | 5 | 116 | 0.0431 | -11 | c.234 others(30): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 13/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124449852 | CCATGCTA others(4): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01123.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0003a0001c0001t0033a0001c0002t0002others(17): Show | a0001c0001t0003g0029a0001c0001t0003g0112a0001c0001t0033g0026others(20): Show | 23 | 116 | 0.1983 | -11 | c.355 others(30): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 21/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124726844 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01074.hp1 others(13): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0001c0007others(9): Show | a0001c0002t0002a0001c0004t0030a0001c0007t0002others(9): Show | a0001c0002t0002g0011a0001c0004t0030g0052a0001c0007t0002g0019others(13): Show | 16 | 116 | 0.1379 | -11 | c.*73 others(22): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 520 | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 503001 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02896.hp1 |
a0002a0006a0012 | a0002c0044a0006c0019a0012c0009 | a0002c0044t0015a0006c0019t0001a0012c0009t0001 | a0002c0044t0015g0081a0006c0019t0001g0009a0012c0009t0001g0008 | 3 | 254 | 0.0118 | -11 | c.-18 others(22): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1693 | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 508121 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG01258.hp1 others(18): Show |
a0001a0004a0005others(10): Show | a0001c0001a0004c0011a0005c0004others(11): Show | a0001c0001t0003a0001c0001t0004a0004c0011t0001others(14): Show | a0001c0001t0003g0221a0001c0001t0004g0227a0004c0011t0001g0216others(18): Show | 21 | 254 | 0.0827 | -11 | c.-84 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 514177 | TTCCTCTC others(4): Show |
T | intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0049 | 1 | 254 | 0.0039 | -11 | c.-84 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 528469 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0008 | a0008c0006 | a0008c0006t0002 | a0008c0006t0002g0097 | 1 | 254 | 0.0039 | -11 | c.-84 others(30): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 562042 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0121 | 1 | 254 | 0.0039 | -11 | c.-84 others(30): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 673200 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 254 | 0.0039 | -11 | c.-83 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 710629 | ACAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02559.hp1 HG02896.hp2 others(3): Show |
a0010a0017 | a0010c0013a0010c0023a0017c0024 | a0010c0013t0001a0010c0023t0001a0017c0024t0005 | a0010c0013t0001g0064a0010c0013t0001g0066a0010c0013t0001g0068others(3): Show | 6 | 254 | 0.0236 | -11 | c.38- others(24): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | chr9 | TogoVar | ||||||
KANK2_chr19_11159270_11202545 | 11189603 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03041.hp1 NA18947.hp1 NA18947.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0003 | a0001c0001t0001g0301a0001c0001t0007g0300a0001c0002t0003g0029 | 3 | 394 | 0.0076 | -11 | c.124 others(30): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 4/12 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8326481 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0272 | 1 | 406 | 0.0025 | -11 | c.193 others(30): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8339245 | TGGTTCAA others(4): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 HG03130.hp2 others(1): Show |
a0009 | a0009c0013 | a0009c0013t0004 | a0009c0013t0004g0050a0009c0013t0004g0051a0009c0013t0004g0052others(1): Show | 4 | 406 | 0.0099 | -11 | c.-28 others(28): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8346369 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp2 HG03471.hp1 NA18968.hp2 others(2): Show |
a0003a0008 | a0003c0003a0003c0016a0008c0008 | a0003c0003t0001a0003c0016t0001a0008c0008t0003 | a0003c0003t0001g0327a0003c0016t0001g0033a0003c0016t0001g0034others(2): Show | 5 | 406 | 0.0123 | -11 | c.-31 others(22): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3108 | chr19 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210026913 | GGTGCCCA others(4): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 284 | 0.0035 | -11 | c.245 others(28): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 12/14 | chr2 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46050105 | GTGGTTTC others(4): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301a0003c0004t0005g0302a0003c0004t0005g0303others(19): Show | 22 | 321 | 0.0685 | -11 | c.202 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 7/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46052964 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0002c0010t0003a0002c0010t0013 | a0001c0001t0001g0099a0002c0010t0003g0253a0002c0010t0013g0288 | 3 | 321 | 0.0094 | -11 | c.184 others(30): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46112368 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0112 | 1 | 321 | 0.0031 | -11 | c.129 others(32): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46125035 | GGGAGGGA others(4): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(70): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0002a0001c0017others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0004others(10): Show | a0001c0001t0002g0170a0001c0002t0001g0007a0001c0002t0001g0008others(70): Show | 73 | 321 | 0.2274 | -11 | c.129 others(32): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46147572 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG02055.hp1 HG02922.hp2 others(3): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0088a0001c0001t0001g0090a0001c0001t0001g0100others(3): Show | 6 | 321 | 0.0187 | -11 | c.128 others(32): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46189031 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00733.hp2 others(12): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0001g0197others(12): Show | 15 | 321 | 0.0467 | -11 | c.-90 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
KANSL2_chr12_48648211_48687238 | 48649848 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0123 | 1 | 322 | 0.0031 | -11 | c.*41 others(22): Show |
KANSL2 | ENSG00000139620.13 | transcript | ENST00000420613.7 | protein_coding | 3362 | chr12 | TogoVar | ||||||
KANSL2_chr12_48648211_48687238 | 48677784 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0168 | 1 | 322 | 0.0031 | -11 | c.545 others(28): Show |
KANSL2 | ENSG00000139620.13 | transcript | ENST00000420613.7 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
KARS1_chr16_75622724_75652665 | 75642185 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 380 | 0.0026 | -11 | c.63- others(24): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
KASH5_chr19_49383249_49422990 | 49386779 | AGGGGAAG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0015a0001c0018others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(9): Show | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0024others(72): Show | 81 | 354 | 0.2288 | -11 | c.-16 others(22): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 1469 | chr19 | TogoVar | ||||||
KASH5_chr19_49383249_49422990 | 49405956 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 354 | 0.0028 | -11 | c.799 others(26): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KAT14_chr20_18132863_18193035 | 18141036 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 346 | 0.0029 | -11 | c.-45 others(30): Show |
KAT14 | ENSG00000149474.15 | transcript | ENST00000688188.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20107000 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | NA19057.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0078a0001c0001t0003g0273 | 2 | 374 | 0.0054 | -11 | c.852 others(28): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20107005 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01109.hp2 NA18947.hp1 NA18954.hp2 others(2): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0284a0001c0001t0002g0045a0001c0001t0002g0231others(2): Show | 5 | 374 | 0.0134 | -11 | c.852 others(28): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20107007 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01358.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0257a0001c0001t0002g0258a0001c0001t0003g0259 | 3 | 374 | 0.0080 | -11 | c.852 others(28): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20107009 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01258.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270a0001c0001t0002g0300 | 2 | 374 | 0.0054 | -11 | c.852 others(28): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20107011 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299 | 1 | 374 | 0.0027 | -11 | c.852 others(28): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20110685 | AAAAAAAG others(4): Show |
A | intron_variant | MODIFIER | HG02165.hp2 NA18969.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0249a0002c0003t0003g0275 | 2 | 374 | 0.0054 | -11 | c.852 others(26): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20131010 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02145.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0005t0001g0018others(4): Show | 7 | 374 | 0.0187 | -11 | c.174 others(30): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT6A_chr8_41924479_42056987 | 42031617 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0192 | 1 | 374 | 0.0027 | -11 | c.600 others(30): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2/16 | chr8 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74830762 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02132.hp2 NA18944.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0049others(2): Show | 5 | 236 | 0.0212 | -11 | c.-32 others(30): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KAT6B_chr10_74821600_75037624 | 74830764 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | NA18942.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0037 | 2 | 236 | 0.0085 | -11 | c.-32 others(30): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KAT6B_chr10_74821600_75037624 | 74927452 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01346.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164a0002c0002t0001g0165 | 2 | 236 | 0.0085 | -11 | c.622 others(30): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KAT6B_chr10_74821600_75037624 | 74984981 | AATAAAAT others(4): Show |
A | intron_variant | MODIFIER | NA18977.hp1 NA19011.hp1 NA19083.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0078a0003c0003t0002g0079a0003c0003t0002g0080 | 3 | 236 | 0.0127 | -11 | c.237 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74990196 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0139a0001c0001t0002g0083 | 2 | 236 | 0.0085 | -11 | c.262 others(30): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KATNA1_chr6_149589873_149653714 | 149613179 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02155.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0282 | 2 | 296 | 0.0068 | -11 | c.502 others(28): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 4/10 | chr6 | TogoVar |