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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDK6_chr7_92599921_92841573 | 92712834 | CTATGTAT others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0041a0001c0001t0046 | a0001c0001t0023g0107a0001c0001t0041g0099a0001c0001t0046g0023 | 3 | 124 | 0.0242 | -12 | c.537 others(31): Show |
CDK6 | ENSG00000105810.10 | transcript | ENST00000424848.3 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
CDK7_chr5_69229886_69282430 | 69241307 | GTTTTTTC others(5): Show |
G | intron_variant | MODIFIER | HG03041.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0216 | 2 | 375 | 0.0053 | -12 | c.126 others(29): Show |
CDK7 | ENSG00000134058.12 | transcript | ENST00000256443.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDK7_chr5_69229886_69282430 | 69245291 | TCCCTTCC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(169): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(160): Show | 172 | 375 | 0.4587 | -12 | c.127 others(29): Show |
CDK7 | ENSG00000134058.12 | transcript | ENST00000256443.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDK7_chr5_69229886_69282430 | 69252494 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 375 | 0.0027 | -12 | c.160 others(25): Show |
CDK7 | ENSG00000134058.12 | transcript | ENST00000256443.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDK8_chr13_26249129_26410238 | 26249904 | TCTATCTA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 328 | 0.0031 | -12 | c.-47 others(23): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 4224 | chr13 | TogoVar | ||||||
CDK8_chr13_26249129_26410238 | 26268256 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02273.hp2 HG03669.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0255a0001c0001t0001g0286 | 3 | 328 | 0.0092 | -12 | c.128 others(31): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDK8_chr13_26249129_26410238 | 26271806 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0183 | 2 | 328 | 0.0061 | -12 | c.128 others(31): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDK8_chr13_26249129_26410238 | 26335920 | TAACAACA others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02040.hp1 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0075others(1): Show | 4 | 328 | 0.0122 | -12 | c.129 others(29): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDK8_chr13_26249129_26410238 | 26340142 | TGCATAGA others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321a0001c0001t0001g0322a0001c0001t0001g0324 | 3 | 328 | 0.0092 | -12 | c.204 others(29): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDK8_chr13_26249129_26410238 | 26362218 | TGATAGAT others(5): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 328 | 0.0031 | -12 | c.456 others(29): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20609373 | CCTTCTTC others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0008 | a0001c0008t0011 | a0001c0008t0011g0181 | 1 | 196 | 0.0051 | -12 | c.287 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20612990 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01167.hp1 HG01516.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0065a0001c0001t0001g0071a0001c0001t0001g0096others(26): Show | 29 | 196 | 0.1480 | -12 | c.287 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20613249 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0004t0037others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0094a0001c0001t0009g0089others(7): Show | 10 | 196 | 0.0510 | -12 | c.287 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20642899 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0008 | a0001c0008t0011 | a0001c0008t0011g0181 | 1 | 196 | 0.0051 | -12 | c.287 others(29): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20672236 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG02055.hp1 others(27): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0136a0001c0001t0001g0188others(27): Show | 30 | 196 | 0.1531 | -12 | c.371 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20676665 | TTAAATAA others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02055.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0136a0001c0001t0001g0188others(23): Show | 26 | 196 | 0.1327 | -12 | c.371 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20694050 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0054 | 1 | 196 | 0.0051 | -12 | c.371 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20756804 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp2 NA18948.hp1 NA18950.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0014a0001c0001t0015others(8): Show | a0001c0001t0002g0155a0001c0001t0014g0067a0001c0001t0015g0095others(9): Show | 12 | 196 | 0.0612 | -12 | c.469 others(29): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20756854 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG02818.hp2 NA18956.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0024a0001c0001t0026others(2): Show | a0001c0001t0002g0155a0001c0001t0024g0152a0001c0001t0026g0001others(2): Show | 5 | 196 | 0.0255 | -12 | c.469 others(29): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20756913 | TTCCTTCC others(5): Show |
T | intron_variant | MODIFIER | HG02300.hp2 NA20300.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0009 | a0001c0002t0002g0041a0001c0006t0009g0078 | 2 | 196 | 0.0102 | -12 | c.469 others(29): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20802309 | CAACAACA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00609.hp1 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0065others(50): Show | 53 | 196 | 0.2704 | -12 | c.638 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20810392 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG01515.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0026others(10): Show | a0001c0001t0003g0162a0001c0001t0009g0138a0001c0001t0026g0001others(12): Show | 15 | 196 | 0.0765 | -12 | c.638 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20837937 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0008 | 1 | 196 | 0.0051 | -12 | c.639 others(29): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20902311 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01255.hp2 HG02027.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(7): Show | a0001c0001t0001g0136a0001c0002t0001g0108a0001c0002t0008g0040others(7): Show | 10 | 196 | 0.0510 | -12 | c.743 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20936241 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0182 | 1 | 196 | 0.0051 | -12 | c.743 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20980192 | GATAGATA others(5): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01192.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0003others(9): Show | a0001c0001t0001g0094a0001c0001t0006g0011a0001c0002t0003g0008others(10): Show | 13 | 196 | 0.0663 | -12 | c.910 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20994470 | TGAAAAGA others(5): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 196 | 0.0051 | -12 | c.910 others(29): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21016129 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG03486.hp1 HG03579.hp2 |
a0001a0002 | a0001c0002a0001c0004a0002c0007 | a0001c0002t0034a0001c0004t0037a0002c0007t0029 | a0001c0002t0034g0182a0001c0004t0037g0098a0002c0007t0029g0014 | 3 | 196 | 0.0153 | -12 | c.105 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21016612 | TCATCCAT others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02965.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0006a0001c0004t0007a0001c0005t0007 | a0001c0001t0006g0179a0001c0004t0007g0015a0001c0005t0007g0084 | 3 | 196 | 0.0153 | -12 | c.105 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21068041 | TGTTGGTT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(142): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0018others(142): Show | 145 | 196 | 0.7398 | -12 | c.123 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21069774 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0026others(2): Show | a0001c0001t0003g0082a0001c0001t0004g0002a0001c0001t0026g0001others(3): Show | 6 | 196 | 0.0306 | -12 | c.123 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21073837 | TTTATTTT others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01257.hp1 HG02027.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(10): Show | a0001c0001t0002g0139a0001c0001t0006g0179a0001c0001t0008g0159others(10): Show | 13 | 196 | 0.0663 | -12 | c.123 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21093694 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0018a0001c0001t0001g0104a0001c0001t0003g0082others(13): Show | 16 | 196 | 0.0816 | -12 | c.123 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21153235 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0034 | 1 | 196 | 0.0051 | -12 | c.130 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21191992 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0138 | 1 | 196 | 0.0051 | -12 | c.130 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21195473 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0170 | 1 | 196 | 0.0051 | -12 | c.130 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21195477 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0031 | a0001c0001t0004g0083a0001c0001t0031g0004 | 2 | 196 | 0.0102 | -12 | c.130 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21203215 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01358.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0162a0001c0001t0007g0164 | 2 | 196 | 0.0102 | -12 | c.154 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKL1_chr14_50321265_50401881 | 50335722 | TGTGTGAG others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(21): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0005a0002c0002t0009a0002c0002t0027others(7): Show | a0002c0002t0005g0023a0002c0002t0005g0025a0002c0002t0005g0039others(21): Show | 24 | 306 | 0.0784 | -12 | c.739 others(29): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 7/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50381754 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(35): Show | a0001c0001t0001g0085a0001c0001t0001g0088a0001c0001t0002g0208others(55): Show | 58 | 306 | 0.1895 | -12 | c.168 others(31): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75571671 | GTTTTTTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002a0001c0001t0004g0081 | 2 | 306 | 0.0065 | -12 | c.*75 others(23): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 4824 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75574389 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02258.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0008a0001c0001t0003g0016a0001c0001t0003g0017others(16): Show | 19 | 306 | 0.0621 | -12 | c.*48 others(23): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 2106 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75595964 | GGAAGGAA others(5): Show |
G | intron_variant | MODIFIER | NA18998.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0256 | 2 | 306 | 0.0065 | -12 | c.141 others(29): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75595976 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02040.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0019 | a0001c0001t0002g0003a0001c0001t0002g0099a0001c0001t0002g0111others(11): Show | 15 | 306 | 0.0490 | -12 | c.141 others(29): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75596021 | GAAGGAAG others(5): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0091 | 1 | 306 | 0.0033 | -12 | c.141 others(29): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75629938 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0133a0001c0001t0002g0003a0001c0001t0002g0004others(44): Show | 50 | 306 | 0.1634 | -12 | c.-30 others(26): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134297890 | TTGTGTGT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00642.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0068a0001c0001t0001g0072a0001c0001t0001g0178others(4): Show | 7 | 210 | 0.0333 | -12 | c.*74 others(21): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 533 | chr5 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134326817 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 210 | 0.0048 | -12 | c.540 others(29): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4/12 | chr5 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134350833 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 210 | 0.0048 | -12 | c.361 others(27): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134371473 | TCGGCGGC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 210 | 0.0048 | -12 | c.-45 others(23): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 4303 | chr5 | TogoVar |