| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KCNJ6_chr21_37602373_37921457 | 37712703 | T | TTCCTCCC others(37): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0003 | a0001c0001t0027g0048a0001c0002t0003g0061a0001c0002t0003g0158 | 3 | 198 | 0.0152 | 44 | c.946 others(61): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
| KCNJ6_chr21_37602373_37921457 | 37712703 | T | TTCCTCCC others(37): Show |
intron_variant | MODIFIER | HG02165.hp1 NA19043.hp2 NA19085.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0163a0001c0004t0008 | a0001c0001t0163g0056a0001c0004t0008g0037a0001c0004t0008g0175 | 3 | 198 | 0.0152 | 44 | c.946 others(61): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
| KCNK13_chr14_90056994_90190853 | 90101790 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 320 | 0.0031 | 44 | c.334 others(63): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| KCNK2_chr1_215077737_215242090 | 215210036 | T | TATATAAT others(37): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0153 | 1 | 260 | 0.0039 | 44 | c.963 others(63): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KCNK6_chr19_38314845_38337076 | 38328878 | G | GAGAAAGA others(37): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01952.hp2 HG01978.hp2 others(6): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0009 | a0002c0002t0006a0003c0003t0006a0003c0003t0076others(1): Show | a0002c0002t0006g0002a0003c0003t0006g0055a0003c0003t0076g0002others(1): Show | 9 | 398 | 0.0226 | 44 | c.*14 others(55): Show |
KCNK6 | ENSG00000099337.5 | transcript | ENST00000263372.5 | protein_coding | 3/3 | 1498 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| KCNK9_chr8_139612121_139708123 | 139677665 | T | TACCTCGA others(37): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0296 | 3 | 322 | 0.0093 | 44 | c.283 others(63): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| KCNK9_chr8_139612121_139708123 | 139677665 | T | TACCTCGA others(37): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(142): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(139): Show | 145 | 322 | 0.4503 | 44 | c.283 others(63): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| KCNK9_chr8_139612121_139708123 | 139677853 | C | CAGCCCAA others(37): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 322 | 0.0031 | 44 | c.283 others(63): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| KCNK9_chr8_139612121_139708123 | 139677973 | T | TACCTCAC others(37): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0296 | 3 | 322 | 0.0093 | 44 | c.283 others(63): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| KCNK9_chr8_139612121_139708123 | 139677979 | A | ACATCCCA others(37): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0212a0001c0002t0001g0121 | 2 | 322 | 0.0062 | 44 | c.283 others(63): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| KCNK9_chr8_139612121_139708123 | 139678022 | C | CGCATCCC others(37): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG00735.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0072a0001c0001t0001g0124others(18): Show | 21 | 322 | 0.0652 | 44 | c.283 others(63): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| KCNMA1_chr10_76879882_77642808 | 76969300 | G | GGGAAGGA others(37): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02738.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0012 | a0001c0001t0001g0011a0001c0002t0012g0050 | 2 | 106 | 0.0189 | 44 | c.236 others(61): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 20/27 | chr10 | TogoVar | ||||||
| KCNMB1_chr5_170369671_170394367 | 170390517 | A | AATATATA others(37): Show |
upstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0067 | 1 | 432 | 0.0023 | 44 | c.-12 others(55): Show |
KCNMB1 | ENSG00000145936.9 | transcript | ENST00000274629.9 | protein_coding | 1151 | chr5 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178757364 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 232 | 0.0043 | 44 | c.-67 others(63): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNMB2_chr3_178531436_178849429 | 178758041 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 232 | 0.0043 | 44 | c.-67 others(63): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178758397 | T | TATATATC others(37): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 232 | 0.0043 | 44 | c.-67 others(63): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNMB2_chr3_178531436_178849429 | 178759017 | T | TATATATC others(37): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147a0001c0001t0002g0156 | 2 | 232 | 0.0086 | 44 | c.-67 others(63): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNMB2_chr3_178531436_178849429 | 178759050 | T | TATATATC others(37): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 232 | 0.0043 | 44 | c.-67 others(63): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNMB2_chr3_178531436_178849429 | 178788406 | G | GGGGGGGG others(37): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 232 | 0.0043 | 44 | c.-67 others(63): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178817218 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0101a0001c0001t0002g0113a0001c0001t0002g0207others(2): Show | 5 | 232 | 0.0216 | 44 | c.57- others(59): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNN2_chr5_114357070_114501496 | 114373640 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01099.hp2 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0004t0001others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0053others(16): Show | 19 | 250 | 0.0760 | 44 | c.121 others(63): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| KCNN2_chr5_114357070_114501496 | 114373640 | T | TTTTATAT others(37): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0199 | 1 | 250 | 0.0040 | 44 | c.121 others(63): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| KCNQ1_chr11_2440008_2854105 | 2531176 | C | CCTGGGCT others(37): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0034a0001c0001t0001g0045a0001c0001t0001g0154others(2): Show | 5 | 208 | 0.0240 | 44 | c.477 others(61): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| KCNQ1_chr11_2440008_2854105 | 2733814 | A | ACACACAC others(37): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0010 | 1 | 208 | 0.0048 | 44 | c.151 others(65): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| KCNQ3_chr8_132115861_132486095 | 132303565 | G | GATATATA others(37): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0080a0001c0001t0108 | a0001c0001t0001g0011a0001c0001t0080g0124a0001c0001t0108g0173 | 3 | 176 | 0.0171 | 44 | c.387 others(65): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
| KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0125 | 1 | 176 | 0.0057 | 44 | c.386 others(63): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | ||||||
| KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0135 | 1 | 272 | 0.0037 | 44 | c.254 others(63): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KCNT1_chr9_135697185_135800502 | 135731991 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0139 | 1 | 272 | 0.0037 | 44 | c.254 others(63): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KCNT2_chr1_196220779_196613440 | 196342428 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 136 | 0.0074 | 44 | c.140 others(61): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 14/27 | chr1 | TogoVar | ||||||
| KCNV2_chr9_2712510_2735037 | 2722040 | T | TTTATTTA others(37): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 NA18950.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0001a0001c0001t0003a0001c0003t0003others(1): Show | a0001c0001t0001g0004a0001c0001t0003g0004a0001c0001t0003g0036others(2): Show | 13 | 442 | 0.0294 | 44 | c.135 others(63): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(37): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 294 | 0.0034 | 44 | c.961 others(65): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
| KDM1B_chr6_18150422_18228854 | 18208627 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0384 | 1 | 392 | 0.0026 | 44 | c.186 others(61): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KDM4B_chr19_4964113_5158598 | 4967632 | C | CCACCATG others(37): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0197 | 1 | 270 | 0.0037 | 44 | c.-17 others(55): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 1480 | chr19 | TogoVar | ||||||
| KDM4B_chr19_4964113_5158598 | 5084531 | T | TATAATTT others(37): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0029 | a0001c0001t0005a0001c0029t0035 | a0001c0001t0005g0065a0001c0029t0035g0066 | 2 | 270 | 0.0074 | 44 | c.918 others(61): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| KDM4C_chr9_6752973_7180648 | 6919223 | C | CTTTCTTT others(37): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0011 | a0001c0002t0002g0119a0001c0002t0011g0118 | 2 | 266 | 0.0075 | 44 | c.921 others(63): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KDM4C_chr9_6752973_7180648 | 6919247 | T | TTTCTTTC others(37): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 266 | 0.0038 | 44 | c.921 others(63): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KHDRBS2_chr6_61674961_62291225 | 61848556 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 244 | 0.0041 | 44 | c.810 others(63): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
| KHDRBS3_chr8_135452456_135652610 | 135574143 | G | GTGTTAGC others(37): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0028others(81): Show | 85 | 342 | 0.2485 | 44 | c.612 others(61): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| KIAA0753_chr17_6573147_6645711 | 6593446 | T | TCACACCT others(37): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02630.hp2 others(2): Show |
a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0116a0008c0008t0002g0117a0008c0008t0002g0118others(2): Show | 5 | 370 | 0.0135 | 44 | c.244 others(63): Show |
KIAA0753 | ENSG00000198920.11 | transcript | ENST00000361413.8 | protein_coding | 16/18 | chr17 | TogoVar | ||||||
| KIAA0930_chr22_45187244_45245894 | 45228899 | A | ACCACCAA others(37): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 398 | 0.0025 | 44 | c.64+ others(61): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIAA0930_chr22_45187244_45245894 | 45228930 | C | CCACACCA others(37): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0161 | a0001c0001t0161g0023 | 1 | 398 | 0.0025 | 44 | c.64+ others(61): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIAA0930_chr22_45187244_45245894 | 45228933 | A | AACCACCA others(37): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01361.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0048a0001c0001t0079others(2): Show | a0001c0001t0008g0002a0001c0001t0008g0060a0001c0001t0008g0061others(4): Show | 8 | 398 | 0.0201 | 44 | c.64+ others(61): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIAA0930_chr22_45187244_45245894 | 45228933 | A | AACCACCA others(37): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02145.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0052 | a0001c0001t0003g0195a0001c0001t0003g0367a0001c0001t0052g0193 | 3 | 398 | 0.0075 | 44 | c.64+ others(61): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
| KIAA1328_chr18_36824127_37230334 | 36883952 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18980.hp1 NA19086.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054a0001c0002t0001g0055a0001c0002t0001g0070 | 3 | 200 | 0.0150 | 44 | c.333 others(61): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KIAA1958_chr9_112481827_112674397 | 112668071 | G | GCATGATA others(37): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(143): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(48): Show | a0001c0001t0002g0001a0001c0001t0002g0011a0001c0001t0002g0012others(143): Show | 146 | 308 | 0.4740 | 44 | c.*80 others(55): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 4/4 | 8003 | chr9 | TogoVar | |||||
| KIAA2012_chr2_202068255_202210188 | 202194579 | G | GTCCCATT others(37): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0011 | 1 | 312 | 0.0032 | 44 | c.318 others(61): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| KIAA2012_chr2_202068255_202210188 | 202194579 | G | GTCCCGTT others(37): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(134): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0004a0002c0001others(25): Show | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(25): Show | a0001c0002t0001g0096a0001c0002t0001g0098a0001c0002t0001g0106others(134): Show | 137 | 312 | 0.4391 | 44 | c.318 others(61): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| KIF13A_chr6_17758693_17992635 | 17821552 | G | GGTGTGTG others(37): Show |
intron_variant | MODIFIER | HG03927.hp1 NA19057.hp1 NA19068.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0161a0001c0002t0002g0169a0001c0003t0001g0238 | 3 | 282 | 0.0106 | 44 | c.178 others(63): Show |
KIF13A | ENSG00000137177.20 | transcript | ENST00000259711.11 | protein_coding | 16/38 | chr6 | TogoVar | ||||||
| KIF14_chr1_200546500_200625751 | 200548793 | C | CACACACA others(37): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0038 | 1 | 390 | 0.0026 | 44 | c.*45 others(55): Show |
KIF14 | ENSG00000118193.12 | transcript | ENST00000367350.5 | protein_coding | 2706 | chr1 | TogoVar | ||||||
| KIF14_chr1_200546500_200625751 | 200548793 | C | CACACACA others(37): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0028a0001c0001t0007g0041 | 2 | 390 | 0.0051 | 44 | c.*45 others(55): Show |
KIF14 | ENSG00000118193.12 | transcript | ENST00000367350.5 | protein_coding | 2706 | chr1 | TogoVar |