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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNMB2_chr3_178531436_178849429 | 178759402 | G | GGATATAT others(16): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01952.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0078 a0001c0001t0004g0181 |
3 | 186 | 0.0161 | 23 | c.-67 others(42): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNN1_chr19_17962107_18005085 | 18004481 | A | AACAACGG others(16): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 371 | 0.0027 | 23 | c.*60 others(34): Show |
KCNN1 | ENSG00000105642.16 | transcript | ENST00000684775.1 | protein_coding | 4397 | chr19 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154766416 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0070 | 1 | 3 | 0.3333 | 23 | c.144 others(42): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63471366 | C | CCCAGGAG others(16): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0020 | 1 | 328 | 0.0030 | 23 | c.296 others(38): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132154193 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0086a0001c0001t0106 | a0001c0001t0086g0129 a0001c0001t0106g0169 |
2 | 119 | 0.0168 | 23 | c.126 others(42): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 9/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132283102 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0056a0001c0001t0058 | a0001c0001t0018g0035 a0001c0001t0056g0087 a0001c0001t0058g0065 |
3 | 166 | 0.0181 | 23 | c.387 others(42): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132448502 | G | GAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0075 a0001c0001t0024g0077 |
2 | 23 | 0.0870 | 23 | c.386 others(42): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNT1_chr9_135697185_135800502 | 135715550 | A | AGGGCTCC others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(184): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0042 others(184): Show |
187 | 270 | 0.6926 | 23 | c.254 others(38): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135715578 | T | TCCGTCAC others(16): Show |
intron_variant | MODIFIER | HG03516.hp2 NA19005.hp2 |
a0001a0008 | a0001c0002a0008c0011 | a0001c0002t0008a0008c0011t0001 | a0001c0002t0008g0026 a0008c0011t0001g0044 |
2 | 270 | 0.0074 | 23 | c.254 others(38): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 29 | 0.0345 | 23 | c.269 others(42): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196334487 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02572.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0076 a0001c0001t0002g0044 a0001c0006t0001g0068 |
3 | 18 | 0.1667 | 23 | c.178 others(40): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 16/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196437011 | C | CATAAATA others(16): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp2 HG02165.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0002 a0001c0004t0004g0132 a0001c0004t0004g0133 |
3 | 134 | 0.0224 | 23 | c.639 others(40): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | TogoVar | |||||||
KCP_chr7_128871865_128915709 | 128908251 | G | GAGAAAGA others(16): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02895.hp1 others(2): Show |
a0006a0009a0038 | a0006c0006a0009c0029a0038c0046 | a0006c0006t0002a0009c0029t0003a0038c0046t0002 | a0006c0006t0002g0060 a0006c0006t0002g0061 a0006c0006t0002g0064 others(2): Show |
5 | 130 | 0.0385 | 23 | c.219 others(38): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 2/39 | chr7 | TogoVar | |||||||
KCTD15_chr19_33791870_33820761 | 33815375 | C | CCATAAAC others(16): Show |
3_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0113 | 1 | 368 | 0.0027 | 23 | c.*24 others(34): Show |
KCTD15 | ENSG00000153885.15 | transcript | ENST00000683859.1 | protein_coding | 7/7 | 2445 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KCTD1_chr18_26449910_26553553 | 26532261 | C | CTTTCTTT others(16): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 283 | 0.0035 | 23 | c.180 others(44): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/4 | chr18 | TogoVar | |||||||
KCTD3_chr1_215562304_215626807 | 215614018 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 182 | 0.0055 | 23 | c.156 others(42): Show |
KCTD3 | ENSG00000136636.13 | transcript | ENST00000259154.9 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCTD4_chr13_45187853_45206045 | 45191224 | A | AAAAAAAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 114 | 0.0088 | 23 | c.*25 others(34): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 1628 | chr13 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 34 | 0.0294 | 23 | c.961 others(44): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KDM1B_chr6_18150422_18228854 | 18208628 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0002c0006t0004 | a0001c0002t0001g0326 a0002c0006t0004g0320 |
2 | 304 | 0.0066 | 23 | c.186 others(40): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | chr6 | TogoVar | |||||||
KDM2A_chr11_67114263_67263082 | 67201772 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 40 | 0.0250 | 23 | c.308 others(40): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67247072 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 201 | 0.0050 | 23 | c.196 others(40): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 15/20 | chr11 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121478866 | T | TTGTTTGT others(16): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 14 | 0.0714 | 23 | c.173 others(44): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 12/22 | chr12 | TogoVar | |||||||
KDM4A_chr1_43645149_43710518 | 43649226 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG02895.hp2 HG02976.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0129 others(5): Show |
8 | 79 | 0.1013 | 23 | c.-10 others(34): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 922 | chr1 | TogoVar | |||||||
KDM4C_chr9_6752973_7180648 | 6919247 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG03453.hp2 HG04115.hp1 NA18946.hp2 others(3): Show |
a0002a0005a0018 | a0002c0003a0002c0008a0005c0037others(1): Show | a0002c0003t0002a0002c0003t0014a0002c0008t0001others(2): Show | a0002c0003t0002g0136 a0002c0003t0002g0228 a0002c0003t0014g0180 others(3): Show |
6 | 120 | 0.0500 | 23 | c.921 others(42): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6926341 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00621.hp1 others(5): Show |
a0002a0004a0021others(1): Show | a0002c0003a0004c0005a0004c0006others(2): Show | a0002c0003t0001a0002c0003t0002a0004c0005t0001others(4): Show | a0002c0003t0001g0061 a0002c0003t0002g0224 a0002c0003t0002g0241 others(5): Show |
8 | 59 | 0.1356 | 23 | c.921 others(42): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019686 | T | TTATAAAA others(16): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(39): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0066 a0001c0001t0002g0214 a0001c0001t0004g0206 others(39): Show |
42 | 136 | 0.3088 | 23 | c.225 others(42): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019686 | T | TTATAAAA others(16): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02080.hp2 HG02735.hp1 others(1): Show |
a0002a0025a0027others(1): Show | a0002c0003a0025c0039a0027c0041others(1): Show | a0002c0003t0002a0025c0039t0001a0027c0041t0002others(1): Show | a0002c0003t0002g0060 a0025c0039t0001g0040 a0027c0041t0002g0108 others(1): Show |
4 | 98 | 0.0408 | 23 | c.225 others(42): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019721 | A | AATATTTT others(16): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 251 | 0.0040 | 23 | c.225 others(42): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019744 | A | AATATTTT others(16): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18946.hp1 NA18968.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0249 a0002c0003t0001g0242 a0002c0003t0002g0092 others(2): Show |
5 | 224 | 0.0223 | 23 | c.225 others(42): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7019767 | A | AATATTTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(14): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0002a0001c0060others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(10): Show | a0001c0001t0002g0117 a0001c0001t0002g0143 a0001c0001t0002g0263 others(14): Show |
17 | 246 | 0.0691 | 23 | c.225 others(42): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM5A_chr12_275057_394320 | 289907 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00738.hp2 NA19087.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0190 a0002c0002t0006g0082 |
2 | 167 | 0.0120 | 23 | c.486 others(42): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 27/27 | chr12 | TogoVar | |||||||
KDM5A_chr12_275057_394320 | 357827 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0306 | 1 | 73 | 0.0137 | 23 | c.673 others(40): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 5/27 | chr12 | TogoVar | |||||||
KHDC4_chr1_155908045_155939413 | 155911166 | G | GCCCCCTC others(16): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0169 |
3 | 324 | 0.0093 | 23 | c.*29 others(34): Show |
KHDC4 | ENSG00000132680.11 | transcript | ENST00000368321.8 | protein_coding | 1878 | chr1 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61983237 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0004 | a0001c0001t0006g0217 a0001c0002t0004g0211 |
2 | 192 | 0.0104 | 23 | c.337 others(40): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61993674 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA19086.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0093 a0001c0001t0006g0226 |
2 | 239 | 0.0084 | 23 | c.337 others(42): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6426510 | A | AGGATCCG others(16): Show |
upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 23 | c.-18 others(34): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 1700 | chr19 | TogoVar | |||||||
KIAA0319_chr6_24539107_24651191 | 24648673 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01169.hp2 NA20905.hp1 |
a0001a0015 | a0001c0001a0001c0004a0015c0027 | a0001c0001t0022a0001c0004t0030a0015c0027t0022 | a0001c0001t0022g0004 a0001c0004t0030g0008 a0015c0027t0022g0005 |
3 | 297 | 0.0101 | 23 | c.-30 others(34): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 2483 | chr6 | TogoVar | |||||||
KIAA0825_chr5_94145851_94623604 | 94182250 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0012 | 1 | 4 | 0.2500 | 23 | c.371 others(44): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 20/20 | chr5 | TogoVar | |||||||
KIAA0825_chr5_94145851_94623604 | 94205300 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 54 | 0.0185 | 23 | c.371 others(44): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 20/20 | chr5 | TogoVar | |||||||
KIAA0825_chr5_94145851_94623604 | 94610789 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0028 | 1 | 47 | 0.0213 | 23 | c.-15 others(42): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
KIAA1210_chrX_119073635_119132812 | 119125735 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0066 a0001c0001t0003g0065 |
2 | 186 | 0.0108 | 23 | c.-11 others(40): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | |||||||
KIAA1210_chrX_119073635_119132812 | 119125736 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01258.hp1 HG02056.hp1 others(6): Show |
a0001a0002a0025 | a0001c0001a0002c0002a0025c0019 | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0226 others(6): Show |
9 | 128 | 0.0703 | 23 | c.-11 others(40): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | |||||||
KIAA1217_chr10_24204138_24552843 | 24484241 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02257.hp2 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0004a0001c0013a0001c0081others(1): Show | a0001c0004t0002a0001c0013t0005a0001c0081t0002others(1): Show | a0001c0004t0002g0078 a0001c0013t0005g0008 a0001c0081t0002g0044 others(1): Show |
4 | 109 | 0.0367 | 23 | c.167 others(44): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24484241 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02080.hp1 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0003others(4): Show | a0001c0001t0001g0209 a0001c0001t0002g0007 a0001c0004t0003g0192 others(4): Show |
7 | 112 | 0.0625 | 23 | c.167 others(44): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24484241 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02523.hp2 NA19088.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0002a0001c0005t0001 | a0001c0003t0001g0166 a0001c0003t0002g0074 a0001c0005t0001g0072 |
3 | 108 | 0.0278 | 23 | c.167 others(44): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24484241 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0216 | 1 | 106 | 0.0094 | 23 | c.167 others(44): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24484241 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19070.hp1 |
a0001 | a0001c0008a0001c0026 | a0001c0008t0002a0001c0026t0002 | a0001c0008t0002g0194 a0001c0026t0002g0218 |
2 | 107 | 0.0187 | 23 | c.167 others(44): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24520649 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 112 | 0.0089 | 23 | c.230 others(40): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 11/20 | chr10 | TogoVar | |||||||
KIAA1549_chr7_138826381_138986389 | 138832190 | C | CTTTTTTT others(16): Show |
3_prime_UTR_variant | MODIFIER | HG03486.hp2 | a0023 | a0023c0047 | a0023c0047t0070 | a0023c0047t0070g0031 | 1 | 171 | 0.0058 | 23 | c.*57 others(34): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 20/20 | 5715 | chr7 | TogoVar | ||||||
KIAA2012_chr2_202068255_202210188 | 202133109 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0011 | 1 | 240 | 0.0042 | 23 | c.183 others(42): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |