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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDK8_chr13_26249129_26410238 | 26268256 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(114): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(112): Show | 117 | 328 | 0.3567 | -8 | c.128 others(27): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDK8_chr13_26249129_26410238 | 26285902 | TAAATAAA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321a0001c0001t0001g0322a0001c0001t0001g0323others(1): Show | 4 | 328 | 0.0122 | -8 | c.128 others(27): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDK8_chr13_26249129_26410238 | 26339695 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(8): Show | 11 | 328 | 0.0335 | -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 | 26361784 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0023others(7): Show | 10 | 328 | 0.0305 | -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 | 26362222 | AGATGGAT others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp2 HG01071.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0045a0001c0001t0001g0046others(30): Show | 34 | 328 | 0.1037 | -8 | c.456 others(25): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20537887 | CTCTATCA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(154): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(81): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0018others(154): Show | 157 | 196 | 0.8010 | -8 | c.-6+ others(23): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20549580 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp2 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0018others(89): Show | 92 | 196 | 0.4694 | -8 | c.286 others(23): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20612990 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0126a0001c0001t0001g0192others(17): Show | 20 | 196 | 0.1020 | -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 | 20613652 | AATATTTA others(1): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 |
a0001 | a0001c0008 | a0001c0008t0011 | a0001c0008t0011g0068a0001c0008t0011g0069 | 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 | 20616839 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG03834.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0012a0002c0003t0002 | a0001c0001t0001g0096a0001c0002t0012g0076a0002c0003t0002g0057 | 3 | 196 | 0.0153 | -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 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02258.hp1 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0010a0001c0001t0016a0001c0002t0003others(3): Show | a0001c0001t0010g0109a0001c0001t0016g0178a0001c0002t0003g0020others(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 | 20676665 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00621.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0096others(45): Show | 48 | 196 | 0.2449 | -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 | 20694054 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01943.hp1 HG02132.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(5): Show | a0001c0001t0001g0070a0001c0001t0006g0179a0001c0002t0002g0041others(6): Show | 9 | 196 | 0.0459 | -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 | 20694173 | TAAACAAA others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG02257.hp2 others(5): Show |
a0001a0004 | a0001c0004a0001c0011a0001c0012others(1): Show | a0001c0004t0001a0001c0004t0004a0001c0004t0037others(3): Show | a0001c0004t0001g0099a0001c0004t0001g0101a0001c0004t0004g0102others(5): Show | 8 | 196 | 0.0408 | -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 | 20714378 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01496.hp2 HG01943.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0136a0001c0001t0001g0188a0001c0001t0001g0192others(20): Show | 23 | 196 | 0.1174 | -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 | 20730419 | AAAGAAAG others(1): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp2 NA21309.hp1 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0001a0001c0004t0004a0001c0011t0004 | a0001c0004t0001g0099a0001c0004t0004g0102a0001c0011t0004g0100 | 3 | 196 | 0.0153 | -8 | c.372 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20730494 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00544.hp2 others(41): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(24): Show | a0001c0001t0002g0042a0001c0001t0003g0113a0001c0001t0003g0149others(41): Show | 44 | 196 | 0.2245 | -8 | c.372 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20748554 | GGAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(12): Show | a0001c0001t0003g0162a0001c0001t0006g0179a0001c0001t0010g0051others(16): Show | 19 | 196 | 0.0969 | -8 | c.468 others(25): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20750951 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0188a0001c0001t0001g0192a0001c0001t0002g0141others(59): Show | 62 | 196 | 0.3163 | -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 | 20756846 | TCCTTCTC others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02922.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0011others(4): Show | a0001c0001t0001g0018a0001c0002t0001g0148a0001c0002t0011g0131others(4): Show | 7 | 196 | 0.0357 | -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 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01361.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0096a0001c0001t0001g0126a0001c0001t0002g0139others(14): Show | 17 | 196 | 0.0867 | -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 | 20756917 | TTCCTTCC others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 NA18983.hp2 NA19007.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0003others(1): Show | a0001c0002t0003a0001c0010t0007a0002c0003t0005others(1): Show | a0001c0002t0003g0073a0001c0010t0007g0044a0002c0003t0005g0081others(1): Show | 4 | 196 | 0.0204 | -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 | 20810392 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01361.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0071a0001c0001t0001g0096a0001c0001t0001g0176others(20): Show | 23 | 196 | 0.1174 | -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 | 20902311 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0002g0141a0001c0001t0003g0149a0001c0001t0010g0051others(13): Show | 16 | 196 | 0.0816 | -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 | 20913116 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00642.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0065a0001c0001t0001g0070a0001c0001t0001g0176others(26): Show | 29 | 196 | 0.1480 | -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 | 20988182 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03041.hp1 |
a0002 | a0002c0007 | a0002c0007t0030a0002c0007t0036 | a0002c0007t0030g0025a0002c0007t0036g0024 | 2 | 196 | 0.0102 | -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 | 21016612 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG03486.hp1 HG03579.hp2 NA19005.hp2 |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0014a0001c0004t0037a0002c0007t0029 | a0001c0001t0014g0072a0001c0004t0037g0098a0002c0007t0029g0014 | 3 | 196 | 0.0153 | -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 | 21044785 | ATGTCTCC others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01109.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0004others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0094a0001c0002t0002g0047others(30): Show | 33 | 196 | 0.1684 | -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 | 21093694 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02056.hp2 HG02280.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0003others(5): Show | a0001c0001t0001g0096a0001c0001t0008g0016a0001c0002t0003g0140others(5): Show | 8 | 196 | 0.0408 | -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 | 21195473 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG01934.hp1 HG01943.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0010a0001c0001t0018a0001c0001t0024others(5): Show | a0001c0001t0010g0035a0001c0001t0018g0005a0001c0001t0024g0158others(6): Show | 9 | 196 | 0.0459 | -8 | c.130 others(27): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21214874 | GATGAATG others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0029 | a0001c0001t0001g0018a0002c0007t0029g0014 | 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 | |||||
CDKAL1_chr6_20529457_21237404 | 21217294 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(124): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0018others(124): Show | 127 | 196 | 0.6480 | -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 | 50329036 | CATATATA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(21): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0005a0002c0002t0009a0002c0002t0027others(7): Show | a0002c0002t0005g0023a0002c0002t0005g0025a0002c0002t0005g0039others(21): Show | 24 | 306 | 0.0784 | -8 | c.*10 others(19): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 1030 | chr14 | TogoVar | |||||
CDKL1_chr14_50321265_50401881 | 50360786 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0035a0001c0001t0043a0001c0001t0111others(1): Show | a0001c0001t0035g0227a0001c0001t0035g0228a0001c0001t0043g0293others(2): Show | 5 | 306 | 0.0163 | -8 | c.169 others(25): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50381754 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(142): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(66): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(140): Show | 145 | 306 | 0.4739 | -8 | c.168 others(27): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50385070 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01934.hp2 HG02132.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0047a0001c0001t0074others(4): Show | a0001c0001t0002g0209a0001c0001t0047g0106a0001c0001t0074g0153others(4): Show | 7 | 306 | 0.0229 | -8 | c.168 others(27): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50396185 | CAAAAAAA others(1): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01993.hp1 HG01993.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0001c0001t0051a0002c0002t0027 | a0001c0001t0018g0008a0001c0001t0018g0009a0001c0001t0018g0011others(3): Show | 6 | 306 | 0.0196 | -8 | c.-32 others(17): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/10 | 318 | chr14 | TogoVar | |||||
CDKL2_chr4_75571496_75635528 | 75571671 | GTTTTTTT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02602.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0096a0001c0001t0001g0162a0001c0001t0001g0180others(5): Show | 8 | 306 | 0.0261 | -8 | c.*75 others(19): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 4824 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75595976 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00733.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0004a0001c0001t0002g0077a0001c0001t0002g0104others(32): Show | 36 | 306 | 0.1177 | -8 | c.141 others(25): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134297890 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02273.hp1 HG02451.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013a0001c0001t0001g0053a0001c0001t0001g0078others(10): Show | 14 | 210 | 0.0667 | -8 | c.*75 others(17): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 533 | chr5 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39185353 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0021a0001c0001t0003g0028others(18): Show | 21 | 290 | 0.0724 | -8 | c.736 others(23): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39185382 | ATATACAT others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048a0001c0001t0003g0062a0001c0001t0003g0063others(3): Show | 6 | 290 | 0.0207 | -8 | c.736 others(23): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39217701 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG02698.hp2 HG03209.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0103a0001c0001t0001g0137a0001c0001t0001g0192others(4): Show | 7 | 290 | 0.0241 | -8 | c.291 others(25): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39217740 | ATTTATTT others(1): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0016others(5): Show | 8 | 290 | 0.0276 | -8 | c.291 others(25): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39243113 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(41): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0155a0001c0001t0001g0156others(40): Show | 44 | 290 | 0.1517 | -8 | c.-57 others(23): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18481320 | GTTTCTTT others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01069.hp1 others(54): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0029a0001c0001t0001g0043a0001c0001t0001g0046others(54): Show | 57 | 192 | 0.2969 | -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 | 18509197 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0032 | a0001c0002t0012g0004a0001c0002t0032g0003 | 2 | 192 | 0.0104 | -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 | 18518388 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0005 | 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 | 18626661 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01257.hp2 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0025a0001c0001t0003g0055a0001c0001t0004g0191others(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 | |||||
CDKN1A_chr6_36673714_36692332 | 36680307 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03041.hp2 HG03579.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016a0002c0002t0002g0075 | 3 | 454 | 0.0066 | -8 | c.-6+ others(23): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |