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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH23_chr10_71391920_71820947 | 71792834 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03098.hp2 |
a0010a0059 | a0010c0146a0059c0157 | a0010c0146t0009a0059c0157t0029 | a0010c0146t0009g0042a0059c0157t0029g0182 | 2 | 196 | 0.0102 | -22 | c.625 others(39): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 47/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CDH23_chr10_71391920_71820947 | 71792836 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01123.hp1 others(9): Show |
a0003a0010a0020others(5): Show | a0003c0002a0003c0089a0003c0090others(8): Show | a0003c0002t0001a0003c0089t0002a0003c0090t0001others(8): Show | a0003c0002t0001g0105a0003c0089t0002g0047a0003c0090t0001g0194others(9): Show | 12 | 196 | 0.0612 | -22 | c.625 others(39): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 47/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CDH23_chr10_71391920_71820947 | 71792838 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00741.hp2 others(12): Show |
a0003a0020a0028others(7): Show | a0003c0002a0003c0012a0003c0128others(9): Show | a0003c0002t0001a0003c0002t0002a0003c0012t0001others(11): Show | a0003c0002t0001g0132a0003c0002t0002g0048a0003c0012t0001g0110others(12): Show | 15 | 196 | 0.0765 | -22 | c.625 others(39): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 47/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CDH26_chr20_59953423_60019529 | 59953922 | CTATATAT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02004.hp1 NA18522.hp1 NA18966.hp1 others(4): Show |
a0001a0005a0008 | a0001c0001a0005c0007a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0142a0001c0001t0001g0158a0001c0001t0001g0220others(4): Show | 7 | 288 | 0.0243 | -22 | c.-48 others(33): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4500 | chr20 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59953961 | TATATATA others(15): Show |
T | upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 288 | 0.0035 | -22 | c.-47 others(33): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4461 | chr20 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59953967 | TATATATA others(15): Show |
T | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 288 | 0.0035 | -22 | c.-47 others(33): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4455 | chr20 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59953973 | TATATATA others(15): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp2 HG04115.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0005 | a0001c0001t0001g0265a0001c0001t0002g0086a0001c0002t0005g0117 | 3 | 288 | 0.0104 | -22 | c.-47 others(33): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4449 | chr20 | TogoVar | ||||||
CDH2_chr18_27945966_28182130 | 28038422 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01978.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0002t0029a0002c0003t0001others(10): Show | a0001c0001t0004g0030a0001c0001t0004g0031a0001c0002t0029g0004others(23): Show | 26 | 268 | 0.0970 | -22 | c.173 others(41): Show |
CDH2 | ENSG00000170558.10 | transcript | ENST00000269141.8 | protein_coding | 2/15 | chr18 | TogoVar | ||||||
CDH2_chr18_27945966_28182130 | 28043473 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0012a0001c0002t0007others(1): Show | a0001c0001t0007g0075a0001c0001t0012g0058a0001c0002t0007g0211others(1): Show | 4 | 268 | 0.0149 | -22 | c.173 others(41): Show |
CDH2 | ENSG00000170558.10 | transcript | ENST00000269141.8 | protein_coding | 2/15 | chr18 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61272883 | AGAGTACC others(15): Show |
A | intron_variant | MODIFIER | HG02559.hp1 NA18906.hp1 |
a0001 | a0001c0010a0001c0012 | a0001c0010t0009a0001c0012t0001 | a0001c0010t0009g0045a0001c0012t0001g0008 | 2 | 106 | 0.0189 | -22 | c.169 others(41): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61296258 | TGTGCGTG others(15): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG03453.hp1 others(3): Show |
a0001a0002 | a0001c0003a0001c0010a0001c0013others(2): Show | a0001c0003t0002a0001c0010t0001a0001c0013t0006others(3): Show | a0001c0003t0002g0002a0001c0010t0001g0027a0001c0013t0006g0036others(3): Show | 6 | 106 | 0.0566 | -22 | c.169 others(41): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61383746 | GATATATG others(15): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0045 | 1 | 106 | 0.0094 | -22 | c.169 others(43): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61550171 | ACTGGCCT others(15): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0016 | a0002c0016t0004 | a0002c0016t0004g0042 | 1 | 106 | 0.0094 | -22 | c.170 others(43): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61692092 | TATGTGTG others(15): Show |
T | intron_variant | MODIFIER | HG02109.hp2 NA18906.hp2 |
a0002 | a0002c0002a0002c0008 | a0002c0002t0005a0002c0008t0004 | a0002c0002t0005g0096a0002c0008t0004g0041 | 2 | 106 | 0.0189 | -22 | c.170 others(41): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61755438 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG02451.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(4): Show | a0001c0001t0001g0032a0001c0003t0001g0020a0001c0003t0005g0054others(4): Show | 7 | 106 | 0.0660 | -22 | c.396 others(41): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61945595 | GCCCCGTG others(15): Show |
G | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02922.hp1 HG03209.hp1 |
a0001 | a0001c0007 | a0001c0007t0010a0001c0007t0046 | a0001c0007t0010g0018a0001c0007t0010g0044a0001c0007t0046g0066 | 3 | 106 | 0.0283 | -22 | c.*86 others(33): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4979 | chr20 | TogoVar | ||||||
CDH6_chr5_31188686_31334146 | 31199423 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00733.hp2 others(89): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(54): Show | a0001c0001t0002g0036a0001c0001t0002g0095a0001c0001t0002g0099others(89): Show | 92 | 338 | 0.2722 | -22 | c.-12 others(41): Show |
CDH6 | ENSG00000113361.13 | transcript | ENST00000265071.3 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDH6_chr5_31188686_31334146 | 31292830 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02027.hp2 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0010a0001c0001t0014a0001c0001t0067others(5): Show | a0001c0001t0010g0199a0001c0001t0014g0210a0001c0001t0014g0211others(6): Show | 9 | 338 | 0.0266 | -22 | c.229 others(39): Show |
CDH6 | ENSG00000113361.13 | transcript | ENST00000265071.3 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDH6_chr5_31188686_31334146 | 31302788 | GAGAGAGA others(15): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0214 | 1 | 338 | 0.0030 | -22 | c.999 others(37): Show |
CDH6 | ENSG00000113361.13 | transcript | ENST00000265071.3 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDH7_chr18_65746012_65895337 | 65781842 | CTTTCTTT others(15): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0084 | 1 | 208 | 0.0048 | -22 | c.210 others(41): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CDH8_chr16_61642250_62041438 | 61822205 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG03579.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0027a0001c0001t0034 | a0001c0001t0019g0075a0001c0001t0027g0009a0001c0001t0034g0011 | 3 | 168 | 0.0179 | -22 | c.836 others(39): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61960294 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0121 | 1 | 168 | 0.0060 | -22 | c.253 others(41): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
CDH9_chr5_26875597_27043586 | 26883041 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 240 | 0.0042 | -22 | c.188 others(41): Show |
CDH9 | ENSG00000113100.10 | transcript | ENST00000231021.9 | protein_coding | 11/11 | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176580148 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG03139.hp2 HG03453.hp1 NA19030.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0013a0001c0005t0001g0046a0001c0005t0001g0173others(1): Show | 5 | 344 | 0.0145 | -22 | c.181 others(41): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDHR3_chr7_105958264_106041432 | 106038159 | GTATATAT others(15): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 NA18942.hp2 NA19030.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0001 | a0001c0001t0005g0003a0001c0001t0005g0325a0001c0004t0001g0134others(2): Show | 5 | 358 | 0.0140 | -22 | c.*54 others(33): Show |
CDHR3 | ENSG00000128536.16 | transcript | ENST00000317716.14 | protein_coding | 1728 | chr7 | TogoVar | ||||||
CDHR5_chr11_611583_629955 | 628933 | CTTTCTTT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00609.hp2 others(52): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0011a0001c0016others(11): Show | a0001c0001t0001a0001c0011t0001a0001c0016t0001others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0023others(16): Show | 55 | 409 | 0.1345 | -22 | c.-40 others(33): Show |
CDHR5 | ENSG00000099834.19 | transcript | ENST00000397542.7 | protein_coding | 3979 | chr11 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36686929 | AAGGAAGG others(15): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0011 | a0002c0002t0003g0071a0002c0002t0011g0072 | 2 | 238 | 0.0084 | -22 | c.347 others(39): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36703366 | TCTATCAT others(15): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02486.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0002g0008a0001c0001t0007g0092a0001c0001t0008g0131others(1): Show | 4 | 238 | 0.0168 | -22 | c.545 others(39): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | chr15 | TogoVar | ||||||
CDK11A_chr1_1697379_1729357 | 1716814 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0007 | a0007c0024 | a0007c0024t0003 | a0007c0024t0003g0149 | 1 | 372 | 0.0027 | -22 | c.356 others(37): Show |
CDK11A | ENSG00000008128.23 | transcript | ENST00000404249.8 | protein_coding | 4/19 | chr1 | TogoVar | ||||||
CDK12_chr17_39456486_39539544 | 39466615 | GAAAAAAA others(15): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01257.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(6): Show | a0001c0001t0002g0019a0001c0001t0009g0108a0001c0001t0010g0091others(11): Show | 14 | 260 | 0.0539 | -22 | c.104 others(41): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK12_chr17_39456486_39539544 | 39481625 | GCTCGCGC others(15): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 260 | 0.0039 | -22 | c.193 others(41): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK12_chr17_39456486_39539544 | 39481633 | GCTCTCTC others(15): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0067 | 1 | 260 | 0.0039 | -22 | c.193 others(41): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK13_chr7_39945256_40104580 | 40003186 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0314a0001c0001t0026g0313 | 2 | 322 | 0.0062 | -22 | c.235 others(41): Show |
CDK13 | ENSG00000065883.18 | transcript | ENST00000181839.10 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90750153 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0149 | 1 | 168 | 0.0060 | -22 | c.464 others(39): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91027825 | TCCTCTCC others(15): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0034 | 1 | 168 | 0.0060 | -22 | c.104 others(43): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK17_chr12_96273261_96405439 | 96277805 | ATATATAT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0125 | 2 | 346 | 0.0058 | -22 | c.*24 others(33): Show |
CDK17 | ENSG00000059758.8 | transcript | ENST00000261211.8 | protein_coding | 455 | chr12 | TogoVar | ||||||
CDK6_chr7_92599921_92841573 | 92725004 | GCAGCTGA others(15): Show |
G | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0072 | 1 | 124 | 0.0081 | -22 | c.537 others(37): Show |
CDK6 | ENSG00000105810.10 | transcript | ENST00000424848.3 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CDK8_chr13_26249129_26410238 | 26268256 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188a0001c0001t0001g0189 | 2 | 328 | 0.0061 | -22 | c.128 others(41): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20613249 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0008 | 1 | 196 | 0.0051 | -22 | c.287 others(41): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20748554 | GGAAAAAA others(15): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00621.hp2 others(33): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(21): Show | a0001c0001t0003g0113a0001c0001t0007g0043a0001c0001t0009g0138others(33): Show | 36 | 196 | 0.1837 | -22 | c.468 others(39): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20748555 | GAAAAAAA others(15): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0144a0002c0003t0002g0157 | 2 | 196 | 0.0102 | -22 | c.468 others(39): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20810392 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0007a0001c0001t0003g0082a0001c0001t0005g0137others(4): Show | 7 | 196 | 0.0357 | -22 | c.638 others(41): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21091857 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp2 others(46): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0094a0001c0001t0001g0096others(46): Show | 49 | 196 | 0.2500 | -22 | c.123 others(43): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKL1_chr14_50321265_50401881 | 50385070 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0011a0001c0001t0022a0001c0001t0043others(17): Show | a0001c0001t0011g0271a0001c0001t0011g0282a0001c0001t0011g0286others(29): Show | 32 | 306 | 0.1046 | -22 | c.168 others(41): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50395673 | GAAAAAAA others(15): Show |
G | splice_region_variant others(1): Show |
LOW | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0237 | 1 | 306 | 0.0033 | -22 | c.168 others(34): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75629938 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02451.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007a0001c0001t0003g0008a0001c0001t0003g0009others(2): Show | 5 | 306 | 0.0163 | -22 | c.-30 others(36): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134326815 | GTGTATAT others(15): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG01981.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0029a0001c0001t0001g0045others(1): Show | 4 | 210 | 0.0191 | -22 | c.540 others(39): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39185219 | TATATACA others(15): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01891.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0105a0001c0001t0001g0187a0001c0001t0001g0215others(21): Show | 24 | 290 | 0.0828 | -22 | c.736 others(37): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39185422 | ATATACAT others(15): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 290 | 0.0035 | -22 | c.736 others(37): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18626661 | CCTCTCTC others(15): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 192 | 0.0052 | -22 | c.249 others(41): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar |