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 | 132161022 | T | TGGTGGGG others(21): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0137 | 1 | 158 | 0.0063 | 28 | c.222 others(47): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132161812 | T | TGGGGGGT others(21): Show |
intron_variant | MODIFIER | HG01981.hp1 NA19091.hp2 |
a0001a0003 | a0001c0013a0003c0003 | a0001c0013t0001a0003c0003t0001 | a0001c0013t0001g0094 a0003c0003t0001g0076 |
2 | 158 | 0.0127 | 28 | c.222 others(47): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132167871 | C | CCCCTCGC others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0025 | a0002c0025t0008 | a0002c0025t0008g0033 | 1 | 158 | 0.0063 | 28 | c.*23 others(41): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660759 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0299 | 1 | 328 | 0.0031 | 28 | c.67+ others(45): 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(21): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0215 | 1 | 328 | 0.0031 | 28 | c.67+ others(45): 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(21): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03540.hp2 NA19074.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0006a0001c0001t0008a0003c0004t0044 | a0001c0001t0006g0088 a0001c0001t0008g0223 a0003c0004t0044g0111 |
3 | 328 | 0.0092 | 28 | c.67+ others(45): 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(21): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01192.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0015a0002c0003t0007 | a0001c0001t0001g0135 a0001c0001t0015g0232 a0002c0003t0007g0146 |
3 | 328 | 0.0092 | 28 | c.67+ others(45): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15469361 | C | CTCTCCTC others(21): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 284 | 0.0035 | 28 | c.670 others(43): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | chr6 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15486806 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 284 | 0.0035 | 28 | c.671 others(43): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27849752 | G | GACACAGA others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG02145.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0088 others(13): Show |
16 | 206 | 0.0777 | 28 | c.386 others(45): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 27849772 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015 | a0001c0001t0001g0196 a0001c0001t0002g0018 a0001c0001t0015g0180 |
3 | 206 | 0.0146 | 28 | c.386 others(45): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 27898304 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0022g0206 |
3 | 206 | 0.0146 | 28 | c.189 others(45): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
JKAMP_chr14_59479517_59510410 | 59508399 | T | TACACACA others(21): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG01243.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0002g0005 others(7): Show |
11 | 358 | 0.0307 | 28 | c.*43 others(39): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 2990 | chr14 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63243103 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01515.hp2 HG03704.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0224 a0002c0002t0001g0271 a0002c0002t0001g0286 |
3 | 310 | 0.0097 | 28 | c.447 others(47): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63248529 | G | GATAGATA others(21): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0214 | 1 | 310 | 0.0032 | 28 | c.447 others(47): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63292144 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0240 a0002c0002t0001g0241 |
2 | 310 | 0.0065 | 28 | c.334 others(47): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD6_chr17_76713451_76731606 | 76728412 | A | ATTTGTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0059 others(1): Show |
5 | 440 | 0.0114 | 28 | c.-19 others(39): Show |
JMJD6 | ENSG00000070495.15 | transcript | ENST00000397625.9 | protein_coding | 1807 | chr17 | TogoVar | |||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 386 | 0.0026 | 28 | c.65- others(43): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JMJD7_chr15_41823092_41842581 | 41833414 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 386 | 0.0026 | 28 | c.65- others(43): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
JOSD1_chr22_38680543_38705943 | 38689912 | C | CTGTGTGT others(21): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18982.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0102 a0001c0002t0009g0111 |
2 | 376 | 0.0053 | 28 | c.186 others(43): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 2/4 | chr22 | TogoVar | |||||||
JPH1_chr8_74229700_74326540 | 74296019 | G | GACACACA others(21): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01099.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0003 a0001c0001t0002g0082 a0001c0001t0002g0185 others(9): Show |
14 | 330 | 0.0424 | 28 | c.113 others(49): Show |
JPH1 | ENSG00000104369.5 | transcript | ENST00000342232.5 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01361.hp1 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0006a0002c0005t0004 | a0002c0002t0006g0171 a0002c0005t0004g0206 |
2 | 338 | 0.0059 | 28 | c.117 others(47): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19066.hp2 |
a0001a0002 | a0001c0006a0002c0009 | a0001c0006t0105a0002c0009t0024 | a0001c0006t0105g0313 a0002c0009t0024g0065 |
2 | 338 | 0.0059 | 28 | c.117 others(47): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0066 | 1 | 338 | 0.0030 | 28 | c.117 others(47): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GAGGGAGG others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG02055.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0001a0001c0001t0012a0002c0002t0003others(4): Show | a0001c0001t0001g0236 a0001c0001t0012g0150 a0002c0002t0003g0024 others(7): Show |
10 | 338 | 0.0296 | 28 | c.117 others(47): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87659374 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0176 | 1 | 380 | 0.0026 | 28 | c.116 others(49): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JSRP1_chr19_2247252_2261417 | 2259312 | C | CAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 436 | 0.0023 | 28 | c.-29 others(39): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2896 | chr19 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124110057 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19240.hp2 |
a0001a0006 | a0001c0069a0006c0078 | a0001c0069t0013a0006c0078t0001 | a0001c0069t0013g0063 a0006c0078t0001g0061 |
2 | 116 | 0.0172 | 28 | c.73+ others(45): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124110255 | G | GTCATACT others(21): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0063 | a0001c0063t0019 | a0001c0063t0019g0074 | 1 | 116 | 0.0086 | 28 | c.73+ others(45): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124110285 | G | GTCATACT others(21): Show |
intron_variant | MODIFIER | HG01243.hp2 NA19030.hp1 |
a0001 | a0001c0007a0001c0029 | a0001c0007t0003a0001c0029t0002 | a0001c0007t0003g0101 a0001c0029t0002g0109 |
2 | 116 | 0.0172 | 28 | c.73+ others(45): 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(21): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03209.hp2 NA18522.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0043a0001c0063others(1): Show | a0001c0001t0003a0001c0043t0015a0001c0063t0019others(1): Show | a0001c0001t0003g0010 a0001c0043t0015g0080 a0001c0063t0019g0074 others(1): Show |
4 | 116 | 0.0345 | 28 | c.456 others(43): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 4/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124495957 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0022 | a0001c0022t0018 | a0001c0022t0018g0038 | 1 | 116 | 0.0086 | 28 | c.483 others(45): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 32/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124623399 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0073 | a0001c0073t0001 | a0001c0073t0001g0060 | 1 | 116 | 0.0086 | 28 | c.518 others(47): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124659153 | G | GGAGGAAG others(21): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0040 | a0001c0040t0012 | a0001c0040t0012g0105 | 1 | 116 | 0.0086 | 28 | c.612 others(45): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 42/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 516998 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 254 | 0.0039 | 28 | c.-84 others(47): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 671509 | T | TGGTCTGT others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0054a0001c0055others(57): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(81): Show | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0040 others(236): Show |
239 | 254 | 0.9409 | 28 | c.-83 others(45): 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(21): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG03041.hp2 |
a0009 | a0009c0006 | a0009c0006t0002 | a0009c0006t0002g0060 a0009c0006t0002g0061 a0009c0006t0002g0067 |
3 | 254 | 0.0118 | 28 | c.-83 others(45): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0219 | 1 | 406 | 0.0025 | 28 | c.-28 others(45): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 a0001c0001t0001g0217 |
2 | 406 | 0.0049 | 28 | c.-28 others(45): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03654.hp2 NA19002.hp2 NA19068.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0003c0003t0001g0042 |
3 | 406 | 0.0074 | 28 | c.-28 others(45): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8340291 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02015.hp1 HG02145.hp2 others(9): Show |
a0001a0007a0012 | a0001c0001a0007c0007a0012c0018 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 others(9): Show |
12 | 406 | 0.0296 | 28 | c.-28 others(45): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210162222 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02717.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0011 | a0001c0001t0001g0089 a0001c0001t0001g0234 a0001c0001t0006g0242 others(2): Show |
5 | 284 | 0.0176 | 28 | c.-29 others(45): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46091812 | A | AGTATGTA others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(18): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024 | a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(18): Show |
21 | 321 | 0.0654 | 28 | c.143 others(47): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 3/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46091812 | A | AGTATGTA others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0004 | a0003c0004t0025 | a0003c0004t0025g0321 | 1 | 321 | 0.0031 | 28 | c.143 others(47): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 3/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA19079.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 a0001c0001t0002g0179 |
2 | 321 | 0.0062 | 28 | c.129 others(47): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KANSL3_chr2_96588172_96643312 | 96615165 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 340 | 0.0029 | 28 | c.664 others(45): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 5/20 | chr2 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624114 | C | CATATATA others(21): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0267 | 1 | 380 | 0.0026 | 28 | c.*37 others(39): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3609 | chr16 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20081878 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02698.hp2 NA18983.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0014 a0001c0002t0001g0115 a0001c0002t0002g0351 |
3 | 374 | 0.0080 | 28 | c.430 others(45): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01975.hp1 HG02165.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0044 a0001c0001t0002g0056 a0001c0001t0002g0103 others(9): Show |
12 | 374 | 0.0321 | 28 | c.230 others(47): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 42054262 | A | AAAAAATA others(21): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0127 | 1 | 374 | 0.0027 | 28 | c.-26 others(39): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2276 | chr8 | TogoVar |