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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDK8_chr13_26249129_26410238 | 26332488 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG02257.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 a0001c0001t0001g0218 a0001c0001t0001g0281 others(2): Show |
5 | 328 | 0.0152 | 8 | c.129 others(25): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDK8_chr13_26249129_26410238 | 26339695 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00673.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0187 others(68): Show |
73 | 328 | 0.2226 | 8 | c.204 others(25): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDK8_chr13_26249129_26410238 | 26362222 | A | AGATGGAT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03710.hp1 HG04199.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 a0001c0001t0001g0241 a0001c0001t0001g0243 others(1): Show |
4 | 328 | 0.0122 | 8 | c.456 others(25): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDK8_chr13_26249129_26410238 | 26408766 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(93): Show |
98 | 328 | 0.2988 | 8 | c.*46 others(19): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 3529 | chr13 | TogoVar | |||||||
CDKAL1_chr6_20529457_21237404 | 20600771 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG03195.hp2 HG04204.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0008a0002c0003t0002 | a0001c0001t0008g0016 a0002c0003t0002g0013 |
2 | 196 | 0.0102 | 8 | c.287 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20612990 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01257.hp2 HG01258.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0024others(1): Show | a0001c0001t0002g0155 a0001c0001t0003g0156 a0001c0001t0024g0152 others(2): Show |
5 | 196 | 0.0255 | 8 | c.287 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20616839 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01167.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(9): Show | a0001c0001t0001g0126 a0001c0001t0001g0188 a0001c0001t0002g0141 others(14): Show |
17 | 196 | 0.0867 | 8 | c.287 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20672236 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18950.hp2 NA18954.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0027a0001c0001t0035others(2): Show | a0001c0001t0019g0145 a0001c0001t0019g0147 a0001c0001t0027g0180 others(3): Show |
6 | 196 | 0.0306 | 8 | c.371 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20694192 | A | ACAAACAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01192.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0003others(6): Show | a0001c0001t0001g0094 a0001c0001t0009g0087 a0001c0001t0009g0089 others(7): Show |
10 | 196 | 0.0510 | 8 | c.371 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20702589 | G | GGCTGGCC others(1): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01496.hp2 HG02280.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0096 a0001c0001t0001g0192 a0001c0001t0004g0031 others(4): Show |
7 | 196 | 0.0357 | 8 | c.372 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20753957 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02300.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0004a0001c0006t0009 | a0001c0004t0004g0133 a0001c0006t0009g0078 |
2 | 196 | 0.0102 | 8 | c.469 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20756804 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01934.hp2 HG02622.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(4): Show | a0001c0001t0003g0082 a0001c0001t0008g0016 a0001c0001t0012g0163 others(5): Show |
8 | 196 | 0.0408 | 8 | c.469 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20756854 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03704.hp1 NA18966.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0012a0002c0003t0005 | a0001c0001t0007g0164 a0001c0001t0012g0163 a0002c0003t0005g0053 |
3 | 196 | 0.0153 | 8 | c.469 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20784412 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02109.hp1 HG02273.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0192 a0001c0001t0002g0124 others(10): Show |
13 | 196 | 0.0663 | 8 | c.638 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20799040 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01192.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0139 a0001c0001t0003g0156 a0001c0001t0005g0189 others(7): Show |
10 | 196 | 0.0510 | 8 | c.638 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20810367 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | NA19007.hp1 NA19082.hp1 |
a0002 | a0002c0003a0002c0007 | a0002c0003t0005a0002c0007t0002 | a0002c0003t0005g0081 a0002c0007t0002g0048 |
2 | 196 | 0.0102 | 8 | c.638 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20837937 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01358.hp2 HG02027.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0070 a0001c0001t0002g0124 others(11): Show |
14 | 196 | 0.0714 | 8 | c.639 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20913116 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03017.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0024a0001c0004t0007a0001c0006t0002others(1): Show | a0001c0001t0024g0158 a0001c0004t0007g0015 a0001c0006t0002g0166 others(1): Show |
4 | 196 | 0.0204 | 8 | c.743 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20913158 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01934.hp2 NA20300.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0002t0009a0001c0004t0001 | a0001c0002t0005g0064 a0001c0002t0009g0183 a0001c0004t0001g0127 others(1): Show |
4 | 196 | 0.0204 | 8 | c.743 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20945071 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02615.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0018a0001c0001t0025a0001c0002t0028others(5): Show | a0001c0001t0018g0005 a0001c0001t0025g0021 a0001c0002t0028g0103 others(8): Show |
11 | 196 | 0.0561 | 8 | c.743 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20947509 | T | TGAGTCCA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01516.hp2 HG02129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0020 | a0001c0001t0003g0149 a0001c0002t0002g0049 a0001c0002t0020g0116 |
3 | 196 | 0.0153 | 8 | c.743 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20982048 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp2 others(37): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0065 a0001c0001t0001g0096 a0001c0001t0001g0126 others(37): Show |
40 | 196 | 0.2041 | 8 | c.910 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20988182 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0070 a0001c0001t0001g0176 a0001c0001t0002g0124 others(34): Show |
37 | 196 | 0.1888 | 8 | c.910 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21003371 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03516.hp1 |
a0001 | a0001c0008a0001c0011 | a0001c0008t0004a0001c0011t0004 | a0001c0008t0004g0105 a0001c0011t0004g0130 |
2 | 196 | 0.0102 | 8 | c.105 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21016612 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG01978.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(13): Show | a0001c0001t0001g0192 a0001c0001t0008g0016 a0001c0001t0016g0178 others(13): Show |
16 | 196 | 0.0816 | 8 | c.105 others(29): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21060090 | A | AAATAGTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01109.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0034others(28): Show | a0001c0001t0001g0007 a0001c0001t0001g0094 a0001c0002t0002g0047 others(44): Show |
47 | 196 | 0.2398 | 8 | c.105 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21079976 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG06807.hp1 |
a0001 | a0001c0004a0001c0012 | a0001c0004t0001a0001c0012t0008 | a0001c0004t0001g0099 a0001c0012t0008g0129 |
2 | 196 | 0.0102 | 8 | c.123 others(29): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21214874 | G | GATGAATG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01167.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0016a0001c0001t0023others(16): Show | a0001c0001t0003g0082 a0001c0001t0016g0178 a0001c0001t0023g0115 others(19): Show |
22 | 196 | 0.1122 | 8 | c.154 others(29): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21214874 | G | GATGGATG others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0136 |
2 | 196 | 0.0102 | 8 | c.154 others(29): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50360786 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0115a0001c0001t0116others(1): Show | a0001c0001t0034g0198 a0001c0001t0115g0223 a0001c0001t0116g0219 others(1): Show |
4 | 306 | 0.0131 | 8 | c.169 others(25): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
CDKL1_chr14_50321265_50401881 | 50387026 | C | CAAAAAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(174): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(77): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(172): Show |
177 | 306 | 0.5784 | 8 | c.168 others(25): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
CDKL1_chr14_50321265_50401881 | 50387037 | A | AAAGAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00738.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0002g0216 a0001c0001t0004g0253 a0001c0001t0004g0254 others(20): Show |
23 | 306 | 0.0752 | 8 | c.168 others(25): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
CDKL2_chr4_75571496_75635528 | 75595976 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG01952.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0013others(1): Show | a0001c0001t0005g0267 a0001c0001t0005g0274 a0001c0001t0005g0275 others(10): Show |
13 | 306 | 0.0425 | 8 | c.141 others(25): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | |||||||
CDKL2_chr4_75571496_75635528 | 75605356 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02922.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0012 a0001c0001t0012g0013 a0001c0001t0012g0014 |
3 | 306 | 0.0098 | 8 | c.655 others(23): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 5/13 | chr4 | TogoVar | |||||||
CDKL2_chr4_75571496_75635528 | 75613124 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02602.hp2 HG02738.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0002g0118 others(8): Show |
11 | 306 | 0.0360 | 8 | c.363 others(25): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
CDKL3_chr5_134293424_134372171 | 134296782 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG01515.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 others(22): Show |
25 | 210 | 0.1191 | 8 | c.*18 others(19): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 1641 | chr5 | TogoVar | |||||||
CDKL3_chr5_134293424_134372171 | 134326829 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02622.hp2 HG03669.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0071 a0001c0001t0001g0112 a0001c0001t0001g0161 others(1): Show |
4 | 210 | 0.0191 | 8 | c.540 others(25): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | TogoVar | |||||||
CDKL4_chr2_39170646_39248970 | 39185159 | C | CATACGTG others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18945.hp1 NA18952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 others(4): Show |
7 | 290 | 0.0241 | 8 | c.736 others(23): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CDKL4_chr2_39170646_39248970 | 39185335 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 a0002c0002t0001g0055 a0002c0002t0001g0056 |
3 | 290 | 0.0103 | 8 | c.736 others(23): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CDKL4_chr2_39170646_39248970 | 39208195 | C | CATACAGC others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(5): Show |
8 | 290 | 0.0276 | 8 | c.364 others(25): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CDKL4_chr2_39170646_39248970 | 39219404 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 NA19009.hp1 NA19070.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0002a0008c0009t0001 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0271 others(1): Show |
4 | 290 | 0.0138 | 8 | c.291 others(25): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | |||||||
CDKL5_chrX_18420608_18645196 | 18427374 | A | AAGCTGTA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0005 | 1 | 192 | 0.0052 | 8 | c.-16 others(27): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18481320 | G | GTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02630.hp1 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0164 a0001c0001t0002g0169 a0001c0001t0004g0165 others(1): Show |
4 | 192 | 0.0208 | 8 | c.-16 others(29): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18509091 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 192 | 0.0052 | 8 | c.65- others(23): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18509197 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02258.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0056 | a0001c0001t0002g0034 a0001c0001t0003g0026 a0001c0001t0003g0070 others(2): Show |
5 | 192 | 0.0260 | 8 | c.65- others(23): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18509199 | A | ACGCGCGC others(1): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 192 | 0.0052 | 8 | c.65- others(23): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18517756 | G | GTTGATTC others(1): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0004 | a0004c0003 | a0004c0003t0036 | a0004c0003t0036g0008 | 1 | 192 | 0.0052 | 8 | c.99+ others(23): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | chrX | TogoVar | |||||||
CDKL5_chrX_18420608_18645196 | 18518385 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0112 | 1 | 192 | 0.0052 | 8 | c.99+ others(23): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18553465 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 192 | 0.0052 | 8 | c.100 others(27): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18626661 | C | CCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01071.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0002g0119 others(5): Show |
8 | 192 | 0.0417 | 8 | c.249 others(27): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar |