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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KHDRBS2_chr6_61674961_62291225 | 62145542 | T | TAAAGTAA others(6): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01515.hp2 HG02572.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0005g0124others(16): Show | 19 | 244 | 0.0779 | 13 | c.219 others(32): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
KHDRBS3_chr8_135452456_135652610 | 135515365 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02965.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0165a0001c0001t0001g0176 | 3 | 342 | 0.0088 | 13 | c.89- others(28): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KHK_chr2_27081772_27105762 | 27099978 | T | TGGCAGCT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01106.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0017others(1): Show | a0001c0001t0004g0004a0001c0001t0004g0039a0001c0001t0004g0040others(10): Show | 24 | 324 | 0.0741 | 13 | c.*22 others(22): Show |
KHK | ENSG00000138030.14 | transcript | ENST00000260598.10 | protein_coding | 8/8 | 229 | chr2 | TogoVar | |||||
KHK_chr2_27081772_27105762 | 27099978 | T | TGTCAGCT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0036 | 1 | 324 | 0.0031 | 13 | c.*22 others(22): Show |
KHK | ENSG00000138030.14 | transcript | ENST00000260598.10 | protein_coding | 8/8 | 229 | chr2 | TogoVar | |||||
KHSRP_chr19_6408102_6429811 | 6429144 | A | AATATATA others(6): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 386 | 0.0026 | 13 | c.-44 others(24): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4334 | chr19 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6429164 | A | ATTATATA others(6): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 386 | 0.0052 | 13 | c.-44 others(24): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4354 | chr19 | TogoVar | ||||||
KIAA0232_chr4_6777727_6889164 | 6800043 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02145.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0001t0005a0001c0014t0009 | a0001c0001t0003g0308a0001c0001t0005g0029a0001c0014t0009g0054 | 3 | 362 | 0.0083 | 13 | c.-35 others(32): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KIAA0232_chr4_6777727_6889164 | 6843927 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0144 | 1 | 362 | 0.0028 | 13 | c.369 others(30): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KIAA0319L_chr1_35428492_35562403 | 35486737 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0019 | a0001c0001t0001g0082a0001c0001t0013g0066a0001c0001t0013g0068others(1): Show | 4 | 324 | 0.0124 | 13 | c.667 others(30): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
KIAA0319_chr6_24539107_24651191 | 24597917 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02723.hp1 others(7): Show |
a0001a0002a0005 | a0001c0004a0002c0002a0005c0006 | a0001c0004t0004a0001c0004t0068a0002c0002t0015others(2): Show | a0001c0004t0004g0012a0001c0004t0068g0107a0002c0002t0015g0276others(7): Show | 10 | 300 | 0.0333 | 13 | c.56- others(28): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 2/20 | chr6 | TogoVar | ||||||
KIAA0319_chr6_24539107_24651191 | 24597940 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 |
a0009 | a0009c0009 | a0009c0009t0024 | a0009c0009t0024g0096a0009c0009t0024g0097 | 2 | 300 | 0.0067 | 13 | c.56- others(28): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 2/20 | chr6 | TogoVar | ||||||
KIAA0319_chr6_24539107_24651191 | 24629514 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00741.hp1 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0012others(16): Show | a0001c0001t0007g0049a0001c0001t0007g0051a0001c0001t0007g0079others(26): Show | 29 | 300 | 0.0967 | 13 | c.-10 others(34): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 1/20 | chr6 | TogoVar | ||||||
KIAA0319_chr6_24539107_24651191 | 24648659 | G | GAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0060 | 1 | 300 | 0.0033 | 13 | c.-30 others(24): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 2469 | chr6 | TogoVar | ||||||
KIAA0586_chr14_58422719_58556297 | 58484890 | T | TTATATAT others(6): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0006 | a0006c0003 | a0006c0003t0011 | a0006c0003t0011g0282 | 1 | 300 | 0.0033 | 13 | c.314 others(32): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIAA0825_chr5_94145851_94623604 | 94182250 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02486.hp1 HG02486.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0019a0001c0001t0021a0001c0001t0034others(2): Show | a0001c0001t0019g0018a0001c0001t0021g0013a0001c0001t0034g0021others(2): Show | 5 | 54 | 0.0926 | 13 | c.371 others(34): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 20/20 | chr5 | TogoVar | ||||||
KIAA0825_chr5_94145851_94623604 | 94356725 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02970.hp1 HG03239.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0015others(1): Show | a0001c0001t0022a0001c0004t0018a0002c0015t0049others(2): Show | a0001c0001t0022g0026a0001c0004t0018g0015a0002c0015t0049g0007others(2): Show | 5 | 54 | 0.0926 | 13 | c.371 others(34): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 20/20 | chr5 | TogoVar | ||||||
KIAA0825_chr5_94145851_94623604 | 94515791 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp2 HG03540.hp2 others(1): Show |
a0002 | a0002c0003a0002c0008a0002c0015 | a0002c0003t0003a0002c0003t0030a0002c0008t0032others(1): Show | a0002c0003t0003g0028a0002c0003t0030g0036a0002c0008t0032g0014others(1): Show | 4 | 54 | 0.0741 | 13 | c.970 others(30): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 5/20 | chr5 | TogoVar | ||||||
KIAA0825_chr5_94145851_94623604 | 94547736 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02132.hp2 HG02559.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0008others(3): Show | a0001c0001t0050a0001c0010t0048a0002c0008t0011others(3): Show | a0001c0001t0050g0042a0001c0010t0048g0008a0002c0008t0011g0045others(3): Show | 6 | 54 | 0.1111 | 13 | c.-1- others(30): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 2/20 | chr5 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45194052 | C | CTTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0142 | a0001c0001t0142g0044 | 1 | 398 | 0.0025 | 13 | c.*31 others(24): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 10/10 | 3123 | chr22 | TogoVar | |||||
KIAA1143_chr3_44743744_44766619 | 44759894 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0027others(16): Show | 57 | 328 | 0.1738 | 13 | c.108 others(30): Show |
KIAA1143 | ENSG00000163807.6 | transcript | ENST00000296121.6 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119125735 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03710.hp1 HG03834.hp2 others(9): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(4): Show | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0085others(9): Show | 12 | 261 | 0.0460 | 13 | c.-11 others(30): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119125735 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01071.hp1 HG04199.hp1 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048 | 3 | 261 | 0.0115 | 13 | c.-11 others(30): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119125736 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(7): Show | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0146others(15): Show | 19 | 261 | 0.0728 | 13 | c.-11 others(30): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24355728 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18971.hp1 NA20905.hp1 |
a0001 | a0001c0003a0001c0014 | a0001c0003t0011a0001c0014t0002 | a0001c0003t0011g0065a0001c0014t0002g0209 | 2 | 240 | 0.0083 | 13 | c.355 others(32): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24511152 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0100 | 1 | 240 | 0.0042 | 13 | c.200 others(32): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24511172 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0007 | a0007c0029 | a0007c0029t0002 | a0007c0029t0002g0232 | 1 | 240 | 0.0042 | 13 | c.200 others(32): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1328_chr18_36824127_37230334 | 36913521 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0191 | 1 | 200 | 0.0050 | 13 | c.448 others(32): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIAA1328_chr18_36824127_37230334 | 37105916 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01515.hp2 HG01517.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0073a0001c0002t0001g0079a0001c0002t0001g0082others(2): Show | 5 | 200 | 0.0250 | 13 | c.123 others(34): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIAA1328_chr18_36824127_37230334 | 37120221 | C | CTGTGACT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00621.hp1 others(90): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(22): Show | a0001c0001t0001g0058a0001c0002t0001g0049a0001c0002t0001g0051others(90): Show | 93 | 200 | 0.4650 | 13 | c.123 others(34): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33440120 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01358.hp2 HG03834.hp1 HG04199.hp1 |
a0001 | a0001c0012a0001c0014 | a0001c0012t0001a0001c0012t0020a0001c0014t0045 | a0001c0012t0001g0217a0001c0012t0020g0062a0001c0014t0045g0171 | 3 | 226 | 0.0133 | 13 | c.238 others(32): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33554882 | T | TAGCTAAA others(6): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0159 | 1 | 226 | 0.0044 | 13 | c.385 others(32): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33598190 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0024 | a0001c0024t0037 | a0001c0024t0037g0139 | 1 | 226 | 0.0044 | 13 | c.475 others(30): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 12/20 | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33614584 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA19060.hp2 NA19082.hp2 |
a0001a0014 | a0001c0002a0014c0078 | a0001c0002t0001a0014c0078t0002 | a0001c0002t0001g0046a0014c0078t0002g0197 | 2 | 226 | 0.0089 | 13 | c.528 others(32): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33614584 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18959.hp1 NA19084.hp1 |
a0001 | a0001c0006a0001c0018a0001c0093 | a0001c0006t0005a0001c0018t0023a0001c0093t0001 | a0001c0006t0005g0032a0001c0018t0023g0125a0001c0093t0001g0005 | 3 | 226 | 0.0133 | 13 | c.528 others(32): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549_chr7_138826381_138986389 | 138935226 | A | AGGCTTCA others(6): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0022 | a0022c0056 | a0022c0056t0001 | a0022c0056t0001g0044 | 1 | 204 | 0.0049 | 13 | c.188 others(32): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
KIAA1614_chr1_180907897_180956614 | 180943027 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03098.hp1 NA21309.hp1 |
a0002 | a0002c0005a0002c0010 | a0002c0005t0030a0002c0010t0062 | a0002c0005t0030g0054a0002c0010t0062g0089 | 2 | 430 | 0.0047 | 13 | c.316 others(32): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
KIAA1614_chr1_180907897_180956614 | 180943034 | T | TGTTTGTT others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03130.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0018a0001c0004t0060a0001c0006t0026 | a0001c0004t0018g0049a0001c0004t0060g0120a0001c0006t0026g0324 | 4 | 430 | 0.0093 | 13 | c.316 others(32): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
KIAA1614_chr1_180907897_180956614 | 180943034 | T | TTTTTGTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01169.hp2 HG02155.hp2 others(12): Show |
a0002a0013a0017 | a0002c0002a0002c0005a0002c0010others(2): Show | a0002c0002t0003a0002c0002t0011a0002c0002t0013others(7): Show | a0002c0002t0003g0024a0002c0002t0003g0083a0002c0002t0003g0175others(11): Show | 15 | 430 | 0.0349 | 13 | c.316 others(32): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIAA1614_chr1_180907897_180956614 | 180943034 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00642.hp2 others(79): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0003a0001c0001t0053a0001c0003t0003others(40): Show | a0001c0001t0003g0109a0001c0001t0053g0308a0001c0003t0003g0093others(71): Show | 82 | 430 | 0.1907 | 13 | c.316 others(32): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIAA1614_chr1_180907897_180956614 | 180943038 | T | TGTTTGTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(25): Show |
a0001a0002a0014others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0007a0001c0003t0005a0001c0004t0005others(16): Show | a0001c0001t0007g0095a0001c0003t0005g0105a0001c0004t0005g0127others(24): Show | 28 | 430 | 0.0651 | 13 | c.316 others(32): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
KIAA1614_chr1_180907897_180956614 | 180943038 | T | TTTTTGTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(61): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0005a0001c0001t0059a0001c0001t0095others(30): Show | a0001c0001t0005g0001a0001c0001t0005g0043a0001c0001t0005g0118others(55): Show | 64 | 430 | 0.1488 | 13 | c.316 others(32): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIAA1614_chr1_180907897_180956614 | 180943550 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01243.hp1 HG02109.hp2 others(24): Show |
a0001a0002a0005others(2): Show | a0001c0003a0001c0004a0001c0031others(5): Show | a0001c0003t0005a0001c0003t0054a0001c0004t0005others(16): Show | a0001c0003t0005g0105a0001c0003t0005g0207a0001c0003t0005g0342others(23): Show | 27 | 430 | 0.0628 | 13 | c.316 others(30): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIAA1671_chr22_24947716_25202448 | 24967357 | G | GTTCAACT others(6): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0008 | a0008c0016 | a0008c0016t0004 | a0008c0016t0004g0224 | 1 | 254 | 0.0039 | 13 | c.-20 others(34): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 1/12 | chr22 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 25099281 | T | TGAGGCTC others(6): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0005 | a0005c0029 | a0005c0029t0004 | a0005c0029t0004g0128 | 1 | 254 | 0.0039 | 13 | c.453 others(34): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIAA1671_chr22_24947716_25202448 | 25150836 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01346.hp2 HG02080.hp1 others(4): Show |
a0001a0007a0022others(1): Show | a0001c0009a0001c0020a0007c0096others(2): Show | a0001c0009t0002a0001c0009t0034a0001c0020t0002others(3): Show | a0001c0009t0002g0204a0001c0009t0034g0102a0001c0020t0002g0191others(4): Show | 7 | 254 | 0.0276 | 13 | c.453 others(34): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIAA1755_chr20_38205503_38265735 | 38259820 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03041.hp1 |
a0004a0006 | a0004c0013a0006c0040 | a0004c0013t0021a0006c0040t0005 | a0004c0013t0021g0282a0006c0040t0005g0283 | 2 | 358 | 0.0056 | 13 | c.3+6 others(24): Show |
KIAA1755 | ENSG00000149633.12 | transcript | ENST00000279024.9 | protein_coding | 1/13 | chr20 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112635214 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0076 | 1 | 308 | 0.0033 | 13 | c.117 others(34): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 2/3 | chr9 | TogoVar | ||||||
KIAA2012_chr2_202068255_202210188 | 202206056 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00597.hp1 others(47): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0002c0001others(9): Show | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(9): Show | a0001c0002t0001g0113a0001c0002t0001g0179a0001c0004t0001g0100others(47): Show | 50 | 312 | 0.1603 | 13 | c.*10 others(24): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 869 | chr2 | TogoVar | ||||||
KIAA2026_chr9_5914022_6013482 | 5919541 | A | ACACACAC others(6): Show |
3_prime_UTR_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0230 | 1 | 374 | 0.0027 | 13 | c.*14 others(22): Show |
KIAA2026 | ENSG00000183354.12 | transcript | ENST00000399933.8 | protein_coding | 8/8 | 142 | chr9 | TogoVar | |||||
KIAA2026_chr9_5914022_6013482 | 5919543 | A | ACACACAC others(6): Show |
3_prime_UTR_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0183 | 1 | 374 | 0.0027 | 13 | c.*14 others(22): Show |
KIAA2026 | ENSG00000183354.12 | transcript | ENST00000399933.8 | protein_coding | 8/8 | 140 | chr9 | TogoVar |