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 | 132158076 | C | CCCCCGCC others(8): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0042 | a0001c0042t0023 | a0001c0042t0023g0126 | 1 | 158 | 0.0063 | 15 | c.222 others(34): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132172702 | G | GGCGCCCT others(8): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0080 | 1 | 158 | 0.0063 | 15 | c.*11 others(36): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173002 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0154 | 1 | 158 | 0.0063 | 15 | c.*11 others(36): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0171 | 1 | 328 | 0.0031 | 15 | c.67+ others(32): 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(8): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02622.hp2 HG03139.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0119 a0003c0004t0004g0120 a0003c0004t0004g0121 others(1): Show |
4 | 328 | 0.0122 | 15 | c.67+ others(32): 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(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0123 | 1 | 328 | 0.0031 | 15 | c.67+ others(32): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660783 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 328 | 0.0031 | 15 | c.67+ others(32): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | chr21 | TogoVar | |||||||
JAM2_chr21_25634258_25722562 | 25666315 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp1 others(73): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0125 others(73): Show |
76 | 328 | 0.2317 | 15 | c.68- others(32): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15469352 | T | TCCTCCCC others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG02132.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0001a0001c0003t0003others(3): Show | a0001c0001t0002g0126 a0001c0003t0001g0010 a0001c0003t0001g0092 others(6): Show |
9 | 284 | 0.0317 | 15 | c.670 others(30): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15473514 | G | GCCCCCCC others(8): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0283 | 1 | 284 | 0.0035 | 15 | c.670 others(32): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27898318 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0131 | 1 | 206 | 0.0049 | 15 | c.189 others(32): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28035313 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007 | a0001c0001t0002g0031 a0001c0001t0005g0029 a0001c0001t0007g0028 |
3 | 206 | 0.0146 | 15 | c.116 others(34): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28120501 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01106.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0159 a0001c0001t0002g0001 a0001c0001t0002g0024 others(17): Show |
20 | 206 | 0.0971 | 15 | c.115 others(34): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JCAD_chr10_30007803_30064586 | 30025535 | A | AAGGGGAG others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02965.hp1 HG03239.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0019others(1): Show | a0001c0001t0002a0001c0005t0021a0001c0005t0040others(3): Show | a0001c0001t0002g0101 a0001c0001t0002g0140 a0001c0005t0021g0134 others(5): Show |
8 | 398 | 0.0201 | 15 | c.404 others(32): Show |
JCAD | ENSG00000165757.9 | transcript | ENST00000375377.2 | protein_coding | 3/3 | chr10 | TogoVar | |||||||
JHY_chr11_122877759_122968862 | 122922809 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0127 a0001c0001t0008g0261 |
2 | 332 | 0.0060 | 15 | c.865 others(32): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63234493 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 310 | 0.0032 | 15 | c.448 others(34): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63277731 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03942.hp2 NA19087.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0031a0002c0002others(1): Show | a0001c0001t0001a0001c0031t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0153 a0001c0031t0001g0156 a0002c0002t0001g0286 others(1): Show |
4 | 310 | 0.0129 | 15 | c.334 others(34): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63292144 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02630.hp2 HG03098.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0032a0005c0005 | a0001c0001t0001a0001c0001t0004a0001c0032t0001others(1): Show | a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0004g0001 others(2): Show |
5 | 310 | 0.0161 | 15 | c.334 others(34): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337456 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 310 | 0.0032 | 15 | c.333 others(34): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337624 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0199 | 1 | 310 | 0.0032 | 15 | c.333 others(34): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337624 | A | AAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(23): Show |
a0002a0003a0009others(4): Show | a0002c0002a0002c0037a0003c0003others(5): Show | a0002c0002t0001a0002c0037t0001a0003c0003t0001others(5): Show | a0002c0002t0001g0210 a0002c0002t0001g0214 a0002c0002t0001g0216 others(23): Show |
26 | 310 | 0.0839 | 15 | c.333 others(34): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337624 | A | AAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02602.hp2 HG02738.hp2 others(2): Show |
a0004a0016 | a0004c0004a0016c0018 | a0004c0004t0002a0016c0018t0002 | a0004c0004t0002g0008 a0004c0004t0002g0013 a0004c0004t0002g0019 others(2): Show |
5 | 310 | 0.0161 | 15 | c.333 others(34): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63387629 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 310 | 0.0032 | 15 | c.169 others(32): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 386 | 0.0026 | 15 | c.65- others(30): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JOSD1_chr22_38680543_38705943 | 38704380 | G | GCCCCCCC others(8): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0098 | 1 | 376 | 0.0027 | 15 | c.-42 others(26): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 3438 | chr22 | TogoVar | |||||||
JPH1_chr8_74229700_74326540 | 74306977 | T | TATAAATG others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(210): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(193): Show |
213 | 330 | 0.6455 | 15 | c.113 others(34): Show |
JPH1 | ENSG00000104369.5 | transcript | ENST00000342232.5 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44126190 | G | GGAAGGAA others(8): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0118 | 1 | 338 | 0.0030 | 15 | c.117 others(34): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44133949 | A | ATAAATAT others(8): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0040 | a0001c0003t0040g0004 | 1 | 338 | 0.0030 | 15 | c.117 others(36): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44133950 | T | TATATATT others(8): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0006 | a0001c0006t0105 | a0001c0006t0105g0313 | 1 | 338 | 0.0030 | 15 | c.117 others(36): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134056 | T | TATAAATA others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0063others(7): Show | a0001c0001t0001g0286 a0001c0001t0003g0057 a0001c0001t0063g0116 others(10): Show |
13 | 338 | 0.0385 | 15 | c.117 others(36): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134481 | T | TATTATAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0236 a0001c0001t0001g0286 a0001c0001t0002g0064 others(59): Show |
62 | 338 | 0.1834 | 15 | c.117 others(36): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134742 | A | AATATTTA others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0099 | a0001c0003t0099g0197 | 1 | 338 | 0.0030 | 15 | c.117 others(36): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87604287 | C | CCTGCTGC others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03209.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005a0001c0016 | a0001c0003t0001a0001c0005t0001a0001c0005t0003others(1): Show | a0001c0003t0001g0012 a0001c0005t0001g0014 a0001c0005t0003g0013 others(1): Show |
4 | 380 | 0.0105 | 15 | c.382 others(30): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87659374 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01099.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0050 a0001c0001t0001g0122 a0001c0001t0001g0124 others(22): Show |
25 | 380 | 0.0658 | 15 | c.116 others(36): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JRKL_chr11_96385013_96398561 | 96395819 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
2 | 428 | 0.0047 | 15 | c.*35 others(26): Show |
JRKL | ENSG00000183340.7 | transcript | ENST00000332349.5 | protein_coding | 2259 | chr11 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18276003 | C | CTCCAGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(286): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(31): Show |
289 | 408 | 0.7083 | 15 | c.*44 others(26): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 3690 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(8): Show |
upstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | 15 | c.-30 others(26): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124131787 | T | TGTGGCCA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0005 | a0005c0048 | a0005c0048t0003 | a0005c0048t0003g0007 | 1 | 116 | 0.0086 | 15 | c.74- others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124152547 | T | TTTTTCTT others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03471.hp2 |
a0001 | a0001c0023a0001c0042 | a0001c0023t0007a0001c0042t0003 | a0001c0023t0007g0039 a0001c0042t0003g0108 |
2 | 116 | 0.0172 | 15 | c.74- others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124265298 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01496.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0003a0001c0001t0033a0001c0002t0017others(12): Show | a0001c0001t0003g0029 a0001c0001t0033g0026 a0001c0002t0017g0053 others(14): Show |
17 | 116 | 0.1466 | 15 | c.456 others(30): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 4/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124278028 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0072 | 1 | 116 | 0.0086 | 15 | c.969 others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | chr3 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124580947 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01074.hp1 others(15): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0005others(9): Show | a0001c0002t0002a0001c0002t0024a0001c0004t0001others(12): Show | a0001c0002t0002g0011 a0001c0002t0024g0006 a0001c0004t0001g0111 others(15): Show |
18 | 116 | 0.1552 | 15 | c.518 others(36): 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(8): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02109.hp1 NA18906.hp2 |
a0001 | a0001c0010a0001c0039a0001c0069 | a0001c0010t0002a0001c0039t0001a0001c0069t0022 | a0001c0010t0002g0050 a0001c0039t0001g0091 a0001c0069t0022g0102 |
3 | 116 | 0.0259 | 15 | c.566 others(34): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 524982 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0031 | a0031c0042 | a0031c0042t0002 | a0031c0042t0002g0086 | 1 | 254 | 0.0039 | 15 | c.-84 others(34): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 671623 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01261.hp2 HG01346.hp1 others(16): Show |
a0002a0005a0006others(5): Show | a0002c0002a0005c0004a0006c0018others(6): Show | a0002c0002t0002a0002c0002t0003a0005c0004t0002others(8): Show | a0002c0002t0002g0124 a0002c0002t0002g0164 a0002c0002t0002g0165 others(16): Show |
19 | 254 | 0.0748 | 15 | c.-83 others(32): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK4_chr1_62231165_62324434 | 62322569 | T | TTTCCAGC others(8): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0014 | a0014c0033 | a0014c0033t0001 | a0014c0033t0001g0293 | 1 | 322 | 0.0031 | 15 | c.-35 others(26): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 3136 | chr1 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46041913 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0221 | 1 | 321 | 0.0031 | 15 | c.202 others(34): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 7/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46052964 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01884.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0102 a0002c0003t0003g0249 |
2 | 321 | 0.0062 | 15 | c.184 others(34): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46059647 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 321 | 0.0031 | 15 | c.184 others(34): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0235 | 1 | 321 | 0.0031 | 15 | c.129 others(34): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar |