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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLF16_chr19_1847399_1868579 | 1856963 | G | GGGGGGGG others(12): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19059.hp1 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0041 a0003c0003t0004g0056 |
2 | 398 | 0.0050 | 19 | c.458 others(36): Show |
KLF16 | ENSG00000129911.9 | transcript | ENST00000250916.6 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
KLF17_chr1_44113821_44140140 | 44127638 | C | CTTTTCTT others(12): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0267 | 1 | 444 | 0.0023 | 19 | c.82- others(34): Show |
KLF17 | ENSG00000171872.5 | transcript | ENST00000372299.4 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
KLF4_chr9_107479852_107494769 | 107490754 | C | CCTCCTGG others(12): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01934.hp2 |
a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0015 | 2 | 428 | 0.0047 | 19 | c.-15 others(30): Show |
KLF4 | ENSG00000136826.15 | transcript | ENST00000374672.5 | protein_coding | 986 | chr9 | TogoVar | |||||||
KLHDC10_chr7_130065534_130140705 | 130128889 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0037 | a0001c0001t0024g0280 a0001c0001t0037g0279 |
2 | 386 | 0.0052 | 19 | c.980 others(34): Show |
KLHDC10 | ENSG00000128607.14 | transcript | ENST00000335420.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KLHDC1_chr14_49688120_49758150 | 49693748 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 208 | 0.0048 | 19 | c.96+ others(32): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KLHDC1_chr14_49688120_49758150 | 49705365 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 | 1 | 208 | 0.0048 | 19 | c.97- others(34): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KLHDC2_chr14_49763153_49791385 | 49766569 | A | ATTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01175.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0027 others(11): Show |
17 | 336 | 0.0506 | 19 | c.-19 others(30): Show |
KLHDC2 | ENSG00000165516.11 | transcript | ENST00000298307.10 | protein_coding | 1583 | chr14 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738576 | C | CCATCCAC others(12): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0347 | 1 | 380 | 0.0026 | 19 | c.507 others(36): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738933 | C | CCATCCAC others(12): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 380 | 0.0026 | 19 | c.507 others(36): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738936 | C | CCCACACA others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(93): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0014a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(93): Show |
96 | 380 | 0.2526 | 19 | c.507 others(36): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738956 | C | CCACCCAC others(12): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01169.hp2 HG01975.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0279 a0002c0002t0001g0205 a0002c0002t0001g0211 others(2): Show |
5 | 380 | 0.0132 | 19 | c.507 others(36): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739042 | T | TCTCATCC others(12): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 380 | 0.0026 | 19 | c.507 others(36): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739293 | C | CCATCCAC others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0008 | a0008c0009 | a0008c0009t0004 | a0008c0009t0004g0035 | 1 | 380 | 0.0026 | 19 | c.507 others(36): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC9_chr1_161093361_161105346 | 161097672 | T | TTCTCTCT others(12): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 402 | 0.0025 | 19 | c.-86 others(28): Show |
KLHDC9 | ENSG00000162755.14 | transcript | ENST00000368011.9 | protein_coding | 688 | chr1 | TogoVar | |||||||
KLHL12_chr1_202886120_202932234 | 202903629 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 358 | 0.0028 | 19 | c.832 others(36): Show |
KLHL12 | ENSG00000117153.16 | transcript | ENST00000367261.8 | protein_coding | 6/11 | chr1 | TogoVar | |||||||
KLHL13_chrX_117892813_118121810 | 118089620 | G | GAGAAAGA others(12): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 207 | 0.0048 | 19 | c.-25 others(38): Show |
KLHL13 | ENSG00000003096.15 | transcript | ENST00000540167.6 | protein_coding | 1/7 | chrX | TogoVar | |||||||
KLHL14_chr18_32667673_32778023 | 32679163 | G | GAACTTGA others(12): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01192.hp1 HG02055.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0003g0174 others(13): Show |
17 | 204 | 0.0833 | 19 | c.158 others(38): Show |
KLHL14 | ENSG00000197705.10 | transcript | ENST00000359358.9 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
KLHL14_chr18_32667673_32778023 | 32773926 | G | GTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0196 a0001c0001t0002g0186 a0001c0004t0002g0150 |
3 | 204 | 0.0147 | 19 | c.-13 others(30): Show |
KLHL14 | ENSG00000197705.10 | transcript | ENST00000359358.9 | protein_coding | 904 | chr18 | TogoVar | |||||||
KLHL18_chr3_47277944_47351816 | 47324298 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01934.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0002g0104 others(2): Show |
5 | 338 | 0.0148 | 19 | c.401 others(36): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69818219 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0180 | 1 | 182 | 0.0055 | 19 | c.141 others(40): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69983589 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0011a0001c0002t0013others(1): Show | a0001c0001t0003g0154 a0001c0001t0003g0162 a0001c0001t0011g0133 others(4): Show |
7 | 182 | 0.0385 | 19 | c.498 others(36): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69996910 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0139 | 1 | 182 | 0.0055 | 19 | c.498 others(38): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
KLHL23_chr2_169728832_169756878 | 169734133 | C | CGAGCGGG others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 400 | 0.0025 | 19 | c.-3+ others(30): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169734134 | G | GAGCGGGG others(12): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02698.hp1 NA18952.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0006a0001c0001t0023a0001c0001t0046others(2): Show | a0001c0001t0006g0038 a0001c0001t0006g0040 a0001c0001t0006g0041 others(4): Show |
7 | 400 | 0.0175 | 19 | c.-3+ others(30): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL28_chr14_44919324_44966947 | 44919468 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 a0001c0001t0004g0010 a0001c0001t0004g0029 |
3 | 224 | 0.0134 | 19 | c.*95 others(30): Show |
KLHL28 | ENSG00000179454.14 | transcript | ENST00000396128.9 | protein_coding | 4855 | chr14 | TogoVar | |||||||
KLHL31_chr6_53642916_53670756 | 53651399 | T | TAAAAAAA others(12): Show |
3_prime_UTR_variant | MODIFIER | NA18989.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0084a0001c0001t0085 | a0001c0001t0084g0125 a0001c0001t0085g0149 |
2 | 420 | 0.0048 | 19 | c.*18 others(28): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 3/3 | 198 | chr6 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53665964 | A | AAAGAAAG others(12): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 420 | 0.0024 | 19 | c.-39 others(28): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 209 | chr6 | TogoVar | |||||||
KLHL32_chr6_96919728_97145753 | 96973730 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG02148.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0003g0033 others(6): Show |
9 | 244 | 0.0369 | 19 | c.24- others(34): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0146 | 1 | 480 | 0.0021 | 19 | c.*79 others(30): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 NA18944.hp1 NA18946.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0017a0002c0002t0019others(2): Show | a0001c0001t0001g0008 a0001c0001t0017g0230 a0001c0001t0017g0234 others(3): Show |
7 | 480 | 0.0146 | 19 | c.*79 others(30): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 NA18939.hp2 NA19009.hp2 |
a0001a0007a0035 | a0001c0001a0007c0011a0035c0045 | a0001c0001t0001a0007c0011t0032a0035c0045t0001 | a0001c0001t0001g0002 a0007c0011t0032g0333 a0035c0045t0001g0216 |
3 | 480 | 0.0063 | 19 | c.*79 others(30): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20432926 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG01070.hp2 NA18962.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 4 | 480 | 0.0083 | 19 | c.748 others(36): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
KLHL38_chr8_123639442_123658801 | 123658464 | G | GGAGAATA others(12): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(91): Show |
a0001a0006a0008others(3): Show | a0001c0001a0001c0002a0001c0015others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0001g0023 a0001c0001t0001g0075 a0001c0001t0001g0088 others(33): Show |
94 | 446 | 0.2108 | 19 | c.-48 others(30): Show |
KLHL38 | ENSG00000175946.9 | transcript | ENST00000684634.1 | protein_coding | 4664 | chr8 | TogoVar | |||||||
KLHL4_chrX_87512802_87675050 | 87551608 | T | TAGATAGA others(12): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 259 | 0.0039 | 19 | c.422 others(38): Show |
KLHL4 | ENSG00000102271.14 | transcript | ENST00000373119.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KLHL6_chr3_183482551_183560706 | 183525265 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0009 | 1 | 298 | 0.0034 | 19 | c.459 others(36): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
KLK10_chr19_51007739_51024709 | 51018164 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18942.hp1 NA19002.hp2 NA19081.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0030 a0003c0004t0008g0132 |
4 | 450 | 0.0089 | 19 | c.88+ others(32): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
KLK11_chr19_51017236_51031616 | 51018164 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 NA19002.hp2 NA19090.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 a0002c0002t0001g0050 |
3 | 456 | 0.0066 | 19 | c.*43 others(30): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4071 | chr19 | TogoVar | |||||||
KLLN_chr10_87854158_87868533 | 87858636 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0000 | 1 | 430 | 0.0023 | 19 | c.*33 others(30): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 521 | chr10 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607337 | T | TTCCTTCC others(12): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 436 | 0.0023 | 19 | c.85+ others(32): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRB1_chr12_9589551_9612916 | 9607405 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 436 | 0.0023 | 19 | c.85+ others(32): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
KLRF2_chr12_9876489_9900833 | 9894126 | T | TCTCTCTC others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 440 | 0.0023 | 19 | c.479 others(34): Show |
KLRF2 | ENSG00000256797.1 | transcript | ENST00000535540.1 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
KMO_chr1_241527378_241600642 | 241539383 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02129.hp2 HG02486.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0142 a0001c0001t0002g0139 a0001c0001t0006g0140 others(12): Show |
15 | 422 | 0.0356 | 19 | c.54+ others(34): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMO_chr1_241527378_241600642 | 241548088 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18947.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0019a0001c0005t0011 | a0001c0001t0019g0042 a0001c0005t0011g0373 |
2 | 422 | 0.0047 | 19 | c.55- others(32): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152141712 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0014 | a0003c0014t0004 | a0003c0014t0004g0048 | 1 | 172 | 0.0058 | 19 | c.143 others(40): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 55/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152436233 | T | TCGCGCCC others(12): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0167 | 1 | 172 | 0.0058 | 19 | c.-46 others(28): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 231 | chr7 | TogoVar | |||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 304 | 0.0033 | 19 | c.498 others(36): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18969.hp2 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0144 |
3 | 304 | 0.0099 | 19 | c.498 others(36): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133159947 | C | CGCCCCGC others(12): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 HG04204.hp2 NA18980.hp1 others(3): Show |
a0001a0002a0017others(1): Show | a0001c0081a0002c0002a0017c0075others(2): Show | a0001c0081t0001a0002c0002t0002a0017c0075t0002others(2): Show | a0001c0081t0001g0038 a0002c0002t0002g0056 a0002c0002t0002g0093 others(3): Show |
6 | 332 | 0.0181 | 19 | c.-52 others(28): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 271 | chr10 | TogoVar | |||||||
KNDC1_chr10_133155219_133231412 | 133185893 | T | TGGGAGGA others(12): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02071.hp2 |
a0001 | a0001c0059a0001c0062 | a0001c0059t0001a0001c0062t0001 | a0001c0059t0001g0194 a0001c0062t0001g0208 |
2 | 332 | 0.0060 | 19 | c.626 others(32): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KNG1_chr3_186712359_186749410 | 186712690 | A | ATATGGAT others(12): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0045 | 1 | 430 | 0.0023 | 19 | c.-48 others(30): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 4668 | chr3 | TogoVar |