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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAG2_chr14_105135995_105173776 | 105149868 | TGGGGAGG others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00597.hp1 others(150): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(31): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(122): Show | 153 | 364 | 0.4203 | -52 | c.160 others(69): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 12/25 | chr14 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105149948 | AAGGGGGT others(45): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 364 | 0.0028 | -52 | c.160 others(69): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 12/25 | chr14 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132103421 | GGAGGGGA others(45): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00642.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0019a0001c0022others(13): Show | a0001c0006t0003a0001c0006t0025a0001c0006t0035others(24): Show | a0001c0006t0003g0082a0001c0006t0003g0083a0001c0006t0003g0149others(37): Show | 40 | 158 | 0.2532 | -52 | c.-13 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132159981 | TCTACTTC others(45): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03098.hp1 |
a0001a0002 | a0001c0019a0002c0029 | a0001c0019t0015a0002c0029t0015 | a0001c0019t0015g0085a0002c0029t0015g0053 | 2 | 158 | 0.0127 | -52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160294 | GGGTCTAT others(45): Show |
G | intron_variant | MODIFIER | HG02965.hp2 HG03471.hp2 NA19081.hp2 |
a0001a0003a0004 | a0001c0048a0003c0003a0004c0014 | a0001c0048t0013a0003c0003t0001a0004c0014t0013 | a0001c0048t0013g0098a0003c0003t0001g0077a0004c0014t0013g0147 | 3 | 158 | 0.0190 | -52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160367 | GGGGGGGG others(45): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0018 | a0003c0018t0003 | a0003c0018t0003g0015 | 1 | 158 | 0.0063 | -52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132161010 | ACTGTGTG others(45): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0035 | 1 | 158 | 0.0063 | -52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132161262 | CCTCTCCC others(45): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01167.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0002c0008others(1): Show | a0001c0001t0004a0002c0004t0004a0002c0008t0004others(1): Show | a0001c0001t0004g0127a0002c0004t0004g0040a0002c0004t0004g0042others(3): Show | 6 | 158 | 0.0380 | -52 | c.222 others(71): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAM3_chr11_134064072_134157001 | 134069473 | GGGCGGGG others(45): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(100): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(91): Show | 103 | 390 | 0.2641 | -52 | c.76+ others(65): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JMY_chr5_79231131_79332211 | 79270546 | ATGTATAT others(45): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0247 | 1 | 342 | 0.0029 | -52 | c.103 others(71): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JMY_chr5_79231131_79332211 | 79270573 | GTATATTT others(45): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0003 | a0003c0004 | a0003c0004t0028 | a0003c0004t0028g0201 | 1 | 342 | 0.0029 | -52 | c.103 others(71): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87671596 | GCCTGCAC others(45): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(133): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0028a0001c0002t0001others(36): Show | a0001c0001t0001g0114a0001c0001t0001g0123a0001c0001t0028g0024others(132): Show | 136 | 380 | 0.3579 | -52 | c.116 others(73): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KANK4_chr1_62231165_62324434 | 62278320 | TCTTCCTT others(45): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01243.hp1 others(11): Show |
a0002a0003a0007others(2): Show | a0002c0017a0002c0028a0003c0005others(4): Show | a0002c0017t0004a0002c0028t0005a0003c0005t0017others(4): Show | a0002c0017t0004g0127a0002c0017t0004g0128a0002c0017t0004g0129others(11): Show | 14 | 322 | 0.0435 | -52 | c.16+ others(67): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27661911 | AATATATA others(45): Show |
A | intron_variant | MODIFIER | NA18747.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0045 | 2 | 152 | 0.0132 | -52 | c.540 others(71): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KCNH2_chr7_150939961_150983321 | 150978915 | CACACACA others(45): Show |
C | upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 358 | 0.0028 | -52 | c.-10 others(63): Show |
KCNH2 | ENSG00000055118.17 | transcript | ENST00000262186.10 | protein_coding | 595 | chr7 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21528744 | AAAGAAAG others(45): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 NA18948.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0003 | a0001c0001t0001g0070a0001c0001t0005g0027a0001c0005t0003g0007 | 3 | 80 | 0.0375 | -52 | c.61+ others(71): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21528752 | AAAGAAAG others(45): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001 | a0001c0001t0007g0032a0001c0002t0001g0040 | 2 | 80 | 0.0250 | -52 | c.61+ others(71): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21528756 | AAAGAAAG others(45): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03195.hp1 NA18950.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0012a0001c0001t0001g0054a0001c0001t0002g0015others(1): Show | 4 | 80 | 0.0500 | -52 | c.61+ others(71): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88326984 | CAGGAGAA others(45): Show |
C | upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0311 | 1 | 334 | 0.0030 | -52 | c.-42 others(63): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 3716 | chr14 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178759253 | CTCCAAGA others(45): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 232 | 0.0043 | -52 | c.-67 others(71): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178759937 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 232 | 0.0043 | -52 | c.-67 others(71): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNQ1_chr11_2440008_2854105 | 2699414 | GGCCGCGC others(45): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188 | 1 | 208 | 0.0048 | -52 | c.151 others(73): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNQ5_chr6_72617064_73203853 | 72941666 | CTCTTTCT others(45): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0009a0001c0001t0012a0001c0002t0025others(2): Show | a0001c0001t0009g0023a0001c0001t0012g0024a0001c0002t0025g0065others(2): Show | 5 | 80 | 0.0625 | -52 | c.399 others(71): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KCTD4_chr13_45187853_45206045 | 45189646 | GAGGACAT others(45): Show |
G | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 352 | 0.0028 | -52 | c.*40 others(63): Show |
KCTD4 | ENSG00000180332.7 | transcript | ENST00000379108.2 | protein_coding | 3206 | chr13 | TogoVar | ||||||
KDM1B_chr6_18150422_18228854 | 18155138 | GCCCGCGC others(45): Show |
G | upstream_gene_variant | MODIFIER | HG01993.hp1 HG02723.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0004a0001c0022 | a0001c0001t0002a0001c0004t0001a0001c0022t0015 | a0001c0001t0002g0070a0001c0004t0001g0163a0001c0022t0015g0212 | 3 | 392 | 0.0077 | -52 | c.-49 others(61): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 283 | chr6 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5019065 | CGTTGGTG others(45): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0018 | a0018c0022 | a0018c0022t0002 | a0018c0022t0002g0178 | 1 | 270 | 0.0037 | -52 | c.-26 others(69): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7852396 | GCTGGGGC others(45): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(36): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0029a0003c0007others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0233a0001c0001t0003g0227a0001c0001t0003g0250others(28): Show | 39 | 388 | 0.1005 | -52 | c.446 others(67): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM7A_chr7_140079746_140181983 | 140100660 | TTATATAT others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(75): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0010others(70): Show | 78 | 344 | 0.2267 | -52 | c.163 others(69): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | ||||||
KDM7A_chr7_140079746_140181983 | 140181861 | TCTGGATG others(45): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0233 | 1 | 344 | 0.0029 | -52 | c.-49 others(63): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 4879 | chr7 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61955475 | CACATATG others(45): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00735.hp1 others(21): Show |
a0001a0005a0006 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(6): Show | a0001c0002t0002g0168a0001c0002t0003g0136a0001c0002t0003g0139others(21): Show | 24 | 244 | 0.0984 | -52 | c.483 others(71): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
KIF16B_chr20_16267104_16578448 | 16501260 | CACCAAGA others(45): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02486.hp2 others(6): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0009a0001c0001t0020a0001c0005t0001others(4): Show | a0001c0001t0009g0132a0001c0001t0020g0105a0001c0005t0001g0170others(6): Show | 9 | 250 | 0.0360 | -52 | c.117 others(71): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 10/25 | chr20 | TogoVar | ||||||
KIF20B_chr10_89696590_89779934 | 89761266 | TAGTAAGG others(45): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 382 | 0.0026 | -52 | c.479 others(69): Show |
KIF20B | ENSG00000138182.15 | transcript | ENST00000371728.8 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIF26B_chr1_245149985_245714432 | 245443863 | GCGGTCAT others(45): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0067 | 1 | 160 | 0.0063 | -52 | c.116 others(73): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 4/14 | chr1 | TogoVar | ||||||
KLF13_chr15_31321835_31382899 | 31375657 | TCAGCCAT others(45): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0098 | 1 | 409 | 0.0024 | -52 | c.*33 others(63): Show |
KLF13 | ENSG00000169926.11 | transcript | ENST00000307145.4 | protein_coding | 2/2 | 3367 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
KLHDC4_chr16_87702812_87770986 | 87706407 | CAACACAA others(45): Show |
C | downstream_gene_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0339 | 1 | 380 | 0.0026 | -52 | c.*16 others(63): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 1404 | chr16 | TogoVar | ||||||
KLHL13_chrX_117892813_118121810 | 118031420 | AATATATA others(45): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG01891.hp2 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0006 | a0001c0002t0001g0043a0001c0002t0001g0044a0001c0002t0001g0045others(18): Show | 21 | 207 | 0.1015 | -52 | c.-24 others(69): Show |
KLHL13 | ENSG00000003096.15 | transcript | ENST00000540167.6 | protein_coding | 1/7 | chrX | TogoVar | ||||||
KLHL30_chr2_238133668_238157947 | 238144392 | AAGGAAGG others(45): Show |
A | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0161 | 1 | 450 | 0.0022 | -52 | c.908 others(67): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KMO_chr1_241527378_241600642 | 241562866 | GGAAGGAA others(45): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0068 | a0001c0001t0054g0046a0001c0001t0068g0141 | 2 | 422 | 0.0047 | -52 | c.615 others(67): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KMT2C_chr7_152129925_152441003 | 152307226 | GAAGGAAG others(45): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0011 | a0011c0020 | a0011c0020t0002 | a0011c0020t0002g0060 | 1 | 172 | 0.0058 | -52 | c.849 others(69): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
KNG1_chr3_186712359_186749410 | 186730671 | AAAAAAAA others(45): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0009 | a0005c0009t0011 | a0005c0009t0011g0111 | 1 | 430 | 0.0023 | -52 | c.673 others(67): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KNL1_chr15_40589249_40669342 | 40604193 | TCCTATCT others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(64): Show |
a0003a0005a0025others(2): Show | a0003c0003a0005c0005a0005c0015others(3): Show | a0003c0003t0002a0003c0003t0010a0003c0003t0011others(6): Show | a0003c0003t0002g0001a0003c0003t0002g0149a0003c0003t0002g0150others(63): Show | 67 | 370 | 0.1811 | -52 | c.36- others(65): Show |
KNL1 | ENSG00000137812.21 | transcript | ENST00000399668.7 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
KPNA4_chr3_160490007_160570571 | 160537156 | CCCTCATA others(45): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0116 | 1 | 308 | 0.0033 | -52 | c.70- others(65): Show |
KPNA4 | ENSG00000186432.10 | transcript | ENST00000334256.9 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99181105 | CTCTCTCT others(45): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02723.hp1 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0279a0001c0001t0001g0280others(5): Show | 10 | 334 | 0.0299 | -52 | c.131 others(69): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar | ||||||
KRTAP9-3_chr17_41227449_41238454 | 41235843 | GGAAGGAA others(45): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(240): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0006g0000others(3): Show | 243 | 439 | 0.5535 | -52 | c.*28 others(63): Show |
KRTAP9-3 | ENSG00000204873.5 | transcript | ENST00000411528.4 | protein_coding | 2390 | chr17 | TogoVar | ||||||
KRTAP9-8_chr17_41232999_41244004 | 41235843 | GGAAGGAA others(45): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(247): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0000a0001c0001t0004g0000a0001c0001t0005g0000others(10): Show | 250 | 435 | 0.5747 | -52 | c.-22 others(63): Show |
KRTAP9-8 | ENSG00000187272.7 | transcript | ENST00000254072.7 | protein_coding | 2155 | chr17 | TogoVar | ||||||
LAMP1_chr13_113292239_113328672 | 113322742 | AGGGGTGG others(45): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0314 | 1 | 354 | 0.0028 | -52 | c.*36 others(61): Show |
LAMP1 | ENSG00000185896.11 | transcript | ENST00000332556.5 | protein_coding | 9/9 | 361 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
LBP_chr20_38341482_38382013 | 38355773 | CAGGAAAG others(45): Show |
C | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 394 | 0.0025 | -52 | c.588 others(67): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 5/14 | chr20 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66568859 | CACACACA others(45): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 434 | 0.0023 | -52 | c.-30 others(63): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2862 | chr15 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66568861 | CACACACA others(45): Show |
C | upstream_gene_variant | MODIFIER | NA18906.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0103 | 2 | 434 | 0.0046 | -52 | c.-30 others(63): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2864 | chr15 | TogoVar | ||||||
LCTL_chr15_66542532_66570998 | 66568869 | CACACACA others(45): Show |
C | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0056 | 1 | 434 | 0.0023 | -52 | c.-30 others(63): Show |
LCTL | ENSG00000188501.12 | transcript | ENST00000695545.1 | protein_coding | 2872 | chr15 | TogoVar |