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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNN3_chr1_154692455_154875281 | 154766416 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03453.hp1 NA18975.hp1 |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0010a0001c0008t0002a0003c0003t0074 | a0001c0001t0010g0059 a0001c0008t0002g0079 a0003c0003t0074g0161 |
3 | 5 | 0.6000 | 34 | c.144 others(53): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63436485 | C | CGCACCAC others(27): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0097 | 1 | 328 | 0.0030 | 34 | c.102 others(53): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 7/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63456068 | T | TCACGGGC others(27): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0145 | 1 | 317 | 0.0032 | 34 | c.297 others(51): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132303565 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0003g0157 a0001c0001t0004g0061 a0001c0001t0006g0109 others(7): Show |
10 | 43 | 0.2326 | 34 | c.387 others(55): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ3_chr8_132115861_132486095 | 132403016 | C | CAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18945.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0073a0001c0001t0097 | a0001c0001t0008g0020 a0001c0001t0073g0076 a0001c0001t0097g0149 |
3 | 4 | 0.7500 | 34 | c.386 others(53): Show |
KCNQ3 | ENSG00000184156.18 | transcript | ENST00000388996.10 | protein_coding | 1/14 | chr8 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72676740 | A | ATAATCTT others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01071.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0005a0001c0001t0027a0001c0003t0015others(7): Show | a0001c0001t0005g0074 a0001c0001t0027g0030 a0001c0003t0015g0077 others(7): Show |
10 | 80 | 0.1250 | 34 | c.398 others(53): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72852640 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02970.hp1 NA18954.hp1 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0009a0001c0002t0037a0001c0004t0001 | a0001c0001t0009g0037 a0001c0002t0037g0052 a0001c0004t0001g0076 |
3 | 23 | 0.1304 | 34 | c.399 others(55): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135726942 | C | CCTCTCTT others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0040 others(206): Show |
209 | 264 | 0.7917 | 34 | c.254 others(53): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135731991 | T | TATAGAGA others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01496.hp1 HG02080.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0132 a0001c0002t0001g0205 a0001c0003t0001g0082 |
3 | 52 | 0.0577 | 34 | c.254 others(53): 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(27): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 50 | 0.0200 | 34 | c.254 others(53): 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(27): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02647.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0009 | a0001c0001t0001g0119 a0001c0006t0009g0012 |
2 | 51 | 0.0392 | 34 | c.254 others(53): 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(27): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0129 |
2 | 51 | 0.0392 | 34 | c.254 others(53): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135733334 | A | ACAACTGC others(27): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0043 | 1 | 270 | 0.0037 | 34 | c.255 others(53): 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(27): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 29 | 0.0345 | 34 | c.269 others(53): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 29 | 0.0345 | 34 | c.269 others(53): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 29 | 0.0345 | 34 | c.269 others(53): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196284248 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0061 | 1 | 29 | 0.0345 | 34 | c.269 others(53): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 23/27 | chr1 | TogoVar | |||||||
KCTD16_chr5_144165873_144490686 | 144452146 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02809.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0065 | a0001c0001t0018g0079 a0001c0001t0065g0013 |
2 | 132 | 0.0152 | 34 | c.833 others(53): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD20_chr6_36438000_36496141 | 36448015 | G | GTGTATGT others(27): Show |
intron_variant | MODIFIER | HG02809.hp2 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0009 | a0001c0001t0001g0299 a0002c0002t0009g0036 |
2 | 65 | 0.0308 | 34 | c.-47 others(51): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCTD20_chr6_36438000_36496141 | 36448015 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0026 | 1 | 64 | 0.0156 | 34 | c.-47 others(51): Show |
KCTD20 | ENSG00000112078.14 | transcript | ENST00000373731.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCTD5_chr16_2677523_2714030 | 2678197 | T | TCCTGTGT others(27): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00741.hp1 others(73): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(56): Show |
76 | 357 | 0.2129 | 34 | c.-43 others(45): Show |
KCTD5 | ENSG00000167977.9 | transcript | ENST00000301738.9 | protein_coding | 4325 | chr16 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44272121 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 154 | 0.0065 | 34 | c.962 others(53): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44317228 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02080.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0058 |
2 | 35 | 0.0571 | 34 | c.961 others(55): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KDM1B_chr6_18150422_18228854 | 18155122 | T | TCCGCGCC others(27): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0357 | 1 | 98 | 0.0102 | 34 | c.-50 others(43): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 299 | chr6 | TogoVar | |||||||
KDM1B_chr6_18150422_18228854 | 18208603 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 252 | 0.0040 | 34 | c.186 others(51): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6919271 | C | CTTTCTTT others(27): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0198 | 1 | 264 | 0.0038 | 34 | c.921 others(53): 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(27): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0310 | 1 | 73 | 0.0137 | 34 | c.673 others(51): Show |
KDM5A | ENSG00000073614.13 | transcript | ENST00000399788.7 | protein_coding | 5/27 | chr12 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140100715 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 333 | 0.0030 | 34 | c.163 others(51): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | |||||||
KEL_chr7_142936114_142967363 | 142965727 | G | GTATATAT others(27): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 247 | 0.0040 | 34 | c.-35 others(45): Show |
KEL | ENSG00000197993.9 | transcript | ENST00000355265.7 | protein_coding | 3365 | chr7 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61848558 | T | TACATATA others(27): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0083 | 1 | 233 | 0.0043 | 34 | c.810 others(53): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61983238 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 207 | 0.0048 | 34 | c.337 others(51): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62169169 | A | ACGTATAT others(27): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 128 | 0.0078 | 34 | c.219 others(51): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
KHDRBS3_chr8_135452456_135652610 | 135485842 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0248 a0001c0001t0003g0338 |
2 | 159 | 0.0126 | 34 | c.88+ others(51): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KHDRBS3_chr8_135452456_135652610 | 135599908 | A | AGCAGCAG others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(118): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0016 others(116): Show |
121 | 295 | 0.4102 | 34 | c.808 others(51): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6419718 | A | AGGGGGGG others(27): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0055 | 1 | 384 | 0.0026 | 34 | c.547 others(49): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 6/18 | chr19 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429142 | A | AATATATA others(27): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0113 | 1 | 262 | 0.0038 | 34 | c.-44 others(45): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4332 | chr19 | TogoVar | |||||||
KIAA0319_chr6_24539107_24651191 | 24579401 | C | CTATATAT others(27): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0005 | a0005c0006 | a0005c0006t0026 | a0005c0006t0026g0225 | 1 | 296 | 0.0034 | 34 | c.137 others(51): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 8/20 | chr6 | TogoVar | |||||||
KIAA0586_chr14_58422719_58556297 | 58484890 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG02258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0137 others(3): Show |
6 | 242 | 0.0248 | 34 | c.314 others(53): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIAA0586_chr14_58422719_58556297 | 58484924 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 99 | 0.0101 | 34 | c.314 others(53): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45228775 | C | CCCCCCCC others(27): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0010 | a0001c0010t0121 | a0001c0010t0121g0392 | 1 | 341 | 0.0029 | 34 | c.64+ others(51): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228789 | A | ACTCACCT others(27): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0011 | 1 | 395 | 0.0025 | 34 | c.64+ others(51): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229137 | A | ACACTCAC others(27): Show |
intron_variant | MODIFIER | HG02300.hp1 NA18989.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0077others(1): Show | a0001c0001t0003g0286 a0001c0001t0013g0285 a0001c0001t0077g0284 others(1): Show |
4 | 342 | 0.0117 | 34 | c.64+ others(51): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229215 | A | ACTCACCC others(27): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0008 | 1 | 396 | 0.0025 | 34 | c.64+ others(51): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229252 | C | CACCACTC others(27): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0365 | 1 | 396 | 0.0025 | 34 | c.64+ others(51): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA1210_chrX_119073635_119132812 | 119125714 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0153 | 1 | 221 | 0.0045 | 34 | c.-11 others(51): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | |||||||
KIAA1328_chr18_36824127_37230334 | 36883952 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02300.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 others(5): Show |
8 | 93 | 0.0860 | 34 | c.333 others(51): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33435810 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0107 | 1 | 161 | 0.0062 | 34 | c.238 others(53): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33435818 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | NA19064.hp2 NA19079.hp1 |
a0001 | a0001c0004a0001c0085 | a0001c0004t0028a0001c0085t0014 | a0001c0004t0028g0045 a0001c0085t0014g0033 |
2 | 164 | 0.0122 | 34 | c.238 others(53): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA2012_chr2_202068255_202210188 | 202132741 | A | ATATGTGT others(27): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0247 | 1 | 310 | 0.0032 | 34 | c.183 others(53): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIAA2012_chr2_202068255_202210188 | 202132747 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01070.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(3): Show | a0001c0002t0001g0153 a0001c0002t0002g0150 a0001c0002t0002g0152 others(22): Show |
25 | 125 | 0.2000 | 34 | c.183 others(53): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 12/23 | chr2 | TogoVar |