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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNQ1_chr11_2440008_2854105 | 2523751 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0156 others(3): Show |
6 | 59 | 0.1017 | 9 | c.387 others(26): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2733857 | C | CTTTCTCT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00639.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0096 others(11): Show |
14 | 124 | 0.1129 | 9 | c.151 others(30): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | chr11 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442671 | C | CCACCACC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01167.hp2 others(40): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0009others(23): Show | a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0046 others(40): Show |
43 | 264 | 0.1629 | 9 | c.691 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442671 | C | CCATCACC others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0022others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0009others(25): Show | a0001c0002t0001g0125 a0001c0002t0003g0302 a0001c0002t0009g0120 others(57): Show |
60 | 281 | 0.2135 | 9 | c.691 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442779 | C | CCATCACC others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01175.hp1 others(10): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0011 | a0001c0002t0064a0002c0001t0001a0002c0001t0002others(3): Show | a0001c0002t0064g0022 a0002c0001t0001g0091 a0002c0001t0001g0211 others(9): Show |
13 | 321 | 0.0405 | 9 | c.691 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442830 | T | TCACCACC others(2): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03017.hp1 HG03669.hp1 others(7): Show |
a0001 | a0001c0007a0001c0014 | a0001c0007t0005a0001c0014t0005a0001c0014t0014 | a0001c0007t0005g0222 a0001c0007t0005g0224 a0001c0007t0005g0226 others(7): Show |
10 | 259 | 0.0386 | 9 | c.691 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442902 | C | CCACCACC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(21): Show |
a0001a0002 | a0001c0002a0001c0016a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0021a0001c0002t0054others(8): Show | a0001c0002t0001g0004 a0001c0002t0001g0138 a0001c0002t0001g0139 others(20): Show |
24 | 315 | 0.0762 | 9 | c.691 others(24): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132187855 | A | ATAGTGAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01934.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0003g0157 a0001c0001t0004g0061 a0001c0001t0007g0171 others(28): Show |
31 | 175 | 0.1771 | 9 | c.387 others(26): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132224081 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0039a0001c0001t0042others(8): Show | a0001c0001t0007g0171 a0001c0001t0039g0030 a0001c0001t0042g0027 others(8): Show |
11 | 108 | 0.1019 | 9 | c.387 others(28): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132228967 | T | TTCTGGAG others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0074a0001c0001t0083others(1): Show | a0001c0001t0004g0061 a0001c0001t0074g0085 a0001c0001t0083g0104 others(1): Show |
4 | 176 | 0.0227 | 9 | c.387 others(28): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132357007 | T | TAACAACA others(2): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0057 | a0001c0001t0024g0077 a0001c0001t0057g0058 |
2 | 77 | 0.0260 | 9 | c.386 others(30): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72736502 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG02015.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0006 a0001c0001t0003g0011 a0001c0001t0003g0015 others(28): Show |
31 | 56 | 0.5536 | 9 | c.398 others(30): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72746217 | T | TATTTGCA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01071.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0006 a0001c0001t0003g0067 a0001c0001t0003g0069 others(25): Show |
28 | 80 | 0.3500 | 9 | c.398 others(30): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | AAATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 NA18941.hp2 NA18949.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(1): Show |
9 | 100 | 0.0900 | 9 | c.-11 others(20): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50014344 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 NA18990.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 |
3 | 94 | 0.0319 | 9 | c.-11 others(20): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 1099 | chr13 | TogoVar | |||||||
KCNS3_chr2_17873667_17937958 | 17893940 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG02071.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0001others(2): Show | a0001c0001t0002g0057 a0001c0001t0002g0085 a0001c0001t0002g0086 others(6): Show |
9 | 137 | 0.0657 | 9 | c.-25 others(30): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135730990 | T | TGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG02074.hp2 others(10): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(6): Show | a0001c0001t0001g0183 a0001c0001t0001g0221 a0001c0001t0001g0233 others(10): Show |
13 | 114 | 0.1140 | 9 | c.254 others(28): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | chr9 | TogoVar | |||||||
KCNT1_chr9_135697185_135800502 | 135768238 | T | TGTGGGGG others(2): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18964.hp2 NA18970.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0127 a0001c0003t0001g0180 a0001c0003t0001g0210 others(1): Show |
4 | 265 | 0.0151 | 9 | c.133 others(26): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196326598 | G | GTACCATA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02818.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(2): Show |
5 | 134 | 0.0373 | 9 | c.227 others(26): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 19/27 | chr1 | TogoVar | |||||||
KCTD10_chr12_109443655_109482300 | 109452845 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02630.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007a0001c0002t0021others(1): Show | a0001c0002t0002g0163 a0001c0002t0002g0167 a0001c0002t0007g0018 others(4): Show |
11 | 208 | 0.0529 | 9 | c.724 others(26): Show |
KCTD10 | ENSG00000110906.13 | transcript | ENST00000228495.11 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
KCTD12_chr13_76875175_76891405 | 76886270 | G | GCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01256.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0056a0001c0001t0057 | a0001c0001t0056g0000 a0001c0001t0057g0000 |
4 | 464 | 0.0086 | 9 | c.-13 others(18): Show |
KCTD12 | ENSG00000178695.6 | transcript | ENST00000377474.4 | protein_coding | 1/1 | 123 | chr13 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144442860 | G | GTACTAGG others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02132.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0012a0001c0001t0018others(15): Show | a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0007g0077 others(20): Show |
23 | 156 | 0.1474 | 9 | c.833 others(28): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD18_chr2_200483958_200515068 | 200489722 | T | TACCTAAG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(1): Show |
a0003 | a0003c0003a0003c0015 | a0003c0003t0010a0003c0015t0010 | a0003c0003t0010g0037 a0003c0003t0010g0115 a0003c0015t0010g0121 |
4 | 440 | 0.0091 | 9 | c.*36 others(18): Show |
KCTD18 | ENSG00000155729.13 | transcript | ENST00000359878.8 | protein_coding | 7/7 | 377 | chr2 | TogoVar | ||||||
KCTD19_chr16_67284432_67331741 | 67319688 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0214 a0002c0003t0001g0002 a0002c0003t0001g0004 others(5): Show |
10 | 177 | 0.0565 | 9 | c.300 others(24): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 2/15 | chr16 | TogoVar | |||||||
KCTD19_chr16_67284432_67331741 | 67331069 | A | AGAGAGAG others(2): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 a0001c0002t0001g0212 |
2 | 43 | 0.0465 | 9 | c.-43 others(20): Show |
KCTD19 | ENSG00000168676.11 | transcript | ENST00000304372.6 | protein_coding | 4329 | chr16 | TogoVar | |||||||
KCTD1_chr18_26449910_26553553 | 26453072 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01943.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0162 a0001c0001t0001g0187 a0001c0001t0001g0192 others(15): Show |
18 | 34 | 0.5294 | 9 | c.*26 others(20): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1837 | chr18 | TogoVar | |||||||
KCTD1_chr18_26449910_26553553 | 26473563 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG00738.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0111 a0001c0001t0001g0148 a0001c0001t0001g0152 others(20): Show |
23 | 44 | 0.5227 | 9 | c.213 others(28): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 3/4 | chr18 | TogoVar | |||||||
KCTD20_chr6_36438000_36496141 | 36478094 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02258.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0012a0002c0002t0002others(5): Show | a0001c0001t0008g0167 a0001c0001t0012g0219 a0002c0002t0002g0031 others(10): Show |
13 | 313 | 0.0415 | 9 | c.435 others(26): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCTD20_chr6_36438000_36496141 | 36478101 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(105): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0004others(7): Show | a0001c0001t0003g0181 a0001c0001t0003g0198 a0002c0002t0002g0001 others(97): Show |
108 | 307 | 0.3518 | 9 | c.435 others(26): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCTD21_chr11_78166249_78193626 | 78176828 | T | TACAACAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(55): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0051 others(35): Show |
58 | 221 | 0.2624 | 9 | c.-29 others(26): Show |
KCTD21 | ENSG00000188997.8 | transcript | ENST00000340067.4 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
KCTD2_chr17_75042225_75070886 | 75053858 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0020 a0001c0001t0003g0111 a0001c0001t0004g0011 others(3): Show |
6 | 170 | 0.0353 | 9 | c.540 others(24): Show |
KCTD2 | ENSG00000180901.11 | transcript | ENST00000322444.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01070.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0077 others(21): Show |
24 | 57 | 0.4211 | 9 | c.961 others(30): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KDELR3_chr22_38463096_38488447 | 38478629 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp2 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(48): Show |
82 | 117 | 0.7009 | 9 | c.193 others(24): Show |
KDELR3 | ENSG00000100196.11 | transcript | ENST00000216014.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KDM1A_chr1_23014468_23088689 | 23042435 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004 | a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0250 others(18): Show |
27 | 343 | 0.0787 | 9 | c.518 others(26): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KDM1A_chr1_23014468_23088689 | 23042440 | A | ATTATTAT others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG02976.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0252 a0001c0001t0001g0278 others(6): Show |
9 | 164 | 0.0549 | 9 | c.518 others(26): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18184736 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01109.hp2 others(16): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0008 | a0001c0002t0012a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0002t0012g0360 a0001c0003t0001g0089 a0001c0003t0001g0092 others(16): Show |
19 | 80 | 0.2375 | 9 | c.535 others(26): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67168582 | T | TAATACAC others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02165.hp1 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0177 others(2): Show |
5 | 175 | 0.0286 | 9 | c.43- others(26): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67169759 | C | CTCTCTCT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00639.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0031 others(10): Show |
13 | 178 | 0.0730 | 9 | c.43- others(26): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67214207 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show |
6 | 11 | 0.5455 | 9 | c.487 others(26): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67247072 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01981.hp1 HG02165.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0054 others(2): Show |
5 | 205 | 0.0244 | 9 | c.196 others(26): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 15/20 | chr11 | TogoVar | |||||||
KDM4A_chr1_43645149_43710518 | 43649226 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02559.hp2 HG03471.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0092 a0001c0001t0001g0093 others(8): Show |
11 | 82 | 0.1341 | 9 | c.-10 others(20): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 922 | chr1 | TogoVar | |||||||
KDM4B_chr19_4964113_5158598 | 5060433 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01258.hp1 others(10): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0004a0002c0005t0002others(2): Show | a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0212 others(10): Show |
13 | 174 | 0.0747 | 9 | c.627 others(28): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6944652 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(27): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0002c0003others(11): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(16): Show | a0001c0001t0002g0111 a0001c0001t0004g0207 a0001c0002t0002g0217 others(27): Show |
30 | 90 | 0.3333 | 9 | c.922 others(28): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 357827 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01123.hp2 HG01516.hp1 others(12): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0153 others(12): Show |
15 | 87 | 0.1724 | 9 | c.673 others(26): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 5/27 | chr12 | TogoVar | |||||||
KDM6B_chr17_7829217_7859796 | 7846859 | T | TACCACCA others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0004a0008a0014others(2): Show | a0004c0007a0004c0011a0004c0026others(7): Show | a0004c0007t0002a0004c0007t0004a0004c0007t0008others(10): Show | a0004c0007t0002g0011 a0004c0007t0002g0023 a0004c0007t0002g0162 others(31): Show |
37 | 43 | 0.8605 | 9 | c.783 others(16): Show |
p.Pro others(13): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 10/24 | 1313/6728 | 792/4932 | 264/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KDSR_chr18_63322726_63372206 | 63324508 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01952.hp2 HG01978.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0007others(3): Show | a0001c0002t0003g0002 a0001c0002t0003g0008 a0001c0002t0003g0048 others(16): Show |
25 | 97 | 0.2577 | 9 | c.*72 others(20): Show |
KDSR | ENSG00000119537.18 | transcript | ENST00000645214.2 | protein_coding | 3217 | chr18 | TogoVar | |||||||
KERA_chr12_91045491_91063024 | 91054033 | C | CTCTTAAC others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02293.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 3 | 406 | 0.0074 | 9 | c.886 others(26): Show |
KERA | ENSG00000139330.6 | transcript | ENST00000266719.4 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61818266 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0007a0001c0003t0003 | a0001c0001t0004g0182 a0001c0002t0007g0212 a0001c0003t0003g0025 others(3): Show |
6 | 114 | 0.0526 | 9 | c.810 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61843341 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02622.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0003a0001c0003t0010 | a0001c0001t0017g0218 a0001c0003t0003g0033 a0001c0003t0003g0034 others(6): Show |
9 | 72 | 0.1250 | 9 | c.810 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61857590 | T | TAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(134): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(26): Show | a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0093 others(134): Show |
137 | 242 | 0.5661 | 9 | c.810 others(28): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar |