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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDHR3_chr7_105958264_106041432 | 106028116 | TTAAAATA others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(72): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(18): Show | a0001c0001t0002g0026a0001c0001t0002g0046a0001c0001t0002g0055others(72): Show | 75 | 358 | 0.2095 | -15 | c.227 others(32): Show |
CDHR3 | ENSG00000128536.16 | transcript | ENST00000317716.14 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDHR3_chr7_105958264_106041432 | 106028167 | TAAAATAA others(8): Show |
T | intron_variant | MODIFIER | HG00733.hp1 NA18747.hp2 |
a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0016a0003c0006t0003g0217 | 2 | 358 | 0.0056 | -15 | c.227 others(32): Show |
CDHR3 | ENSG00000128536.16 | transcript | ENST00000317716.14 | protein_coding | 16/18 | chr7 | TogoVar | ||||||
CDHR4_chr3_49785732_49804873 | 49802121 | TCTTCTCC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02071.hp2 others(17): Show |
a0001 | a0001c0001a0001c0008a0001c0012 | a0001c0001t0001a0001c0008t0001a0001c0012t0001 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0027others(5): Show | 20 | 354 | 0.0565 | -15 | c.-23 others(26): Show |
CDHR4 | ENSG00000187492.9 | transcript | ENST00000412678.7 | protein_coding | 2249 | chr3 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36595290 | TTATAATA others(8): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01891.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0109a0001c0001t0001g0134a0001c0001t0001g0135others(25): Show | 28 | 238 | 0.1177 | -15 | c.101 others(34): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36788092 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0105a0001c0001t0001g0149a0001c0001t0001g0151others(47): Show | 50 | 238 | 0.2101 | -15 | c.717 others(34): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36788094 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0123a0001c0001t0001g0128a0001c0001t0001g0141others(15): Show | 18 | 238 | 0.0756 | -15 | c.717 others(34): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDIN1_chr15_36574626_36815244 | 36788096 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0199 | 1 | 238 | 0.0042 | -15 | c.717 others(34): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDK10_chr16_89681689_89701354 | 89689049 | ATGTTCTT others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03471.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0028 | 3 | 422 | 0.0071 | -15 | c.88- others(28): Show |
CDK10 | ENSG00000185324.22 | transcript | ENST00000353379.12 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
CDK11A_chr1_1697379_1729357 | 1716814 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0035a0001c0036others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(128): Show | 220 | 372 | 0.5914 | -15 | c.356 others(30): Show |
CDK11A | ENSG00000008128.23 | transcript | ENST00000404249.8 | protein_coding | 4/19 | chr1 | TogoVar | ||||||
CDK11A_chr1_1697379_1729357 | 1723488 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0035a0001c0036others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(180): Show | 289 | 372 | 0.7769 | -15 | c.-13 others(30): Show |
CDK11A | ENSG00000008128.23 | transcript | ENST00000404249.8 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CDK12_chr17_39456486_39539544 | 39466615 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0021 | 1 | 260 | 0.0039 | -15 | c.104 others(34): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90630038 | CAAACAAA others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(2): Show | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0006g0107others(3): Show | 6 | 168 | 0.0357 | -15 | c.123 others(34): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90773843 | CCTCCTCT others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01243.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(20): Show | 23 | 168 | 0.1369 | -15 | c.465 others(34): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90874503 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(1): Show | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0006g0103others(2): Show | 5 | 168 | 0.0298 | -15 | c.639 others(34): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90895354 | TCCTCACC others(8): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0067 | 1 | 168 | 0.0060 | -15 | c.640 others(32): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90895434 | TCCTCTCC others(8): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02895.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0016a0001c0001t0043 | a0001c0001t0007g0041a0001c0001t0016g0033a0001c0001t0043g0031 | 3 | 168 | 0.0179 | -15 | c.640 others(32): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91027794 | CCCCTCCC others(8): Show |
C | intron_variant | MODIFIER | NA18977.hp1 NA19009.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0014 | a0001c0001t0003g0020a0001c0001t0004g0011a0001c0001t0014g0019 | 3 | 168 | 0.0179 | -15 | c.104 others(36): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91027932 | GCTCCCCT others(8): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039a0001c0001t0005g0089 | 2 | 168 | 0.0119 | -15 | c.104 others(36): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91076242 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0153 | 1 | 168 | 0.0060 | -15 | c.110 others(34): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91122256 | CCACATTA others(8): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG00738.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0064others(19): Show | 22 | 168 | 0.1310 | -15 | c.*28 others(32): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | chr7 | TogoVar | ||||||
CDK14_chr7_90591321_91215590 | 91186146 | TCCTCTCC others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00621.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0096a0001c0001t0001g0151a0001c0001t0001g0159others(9): Show | 12 | 168 | 0.0714 | -15 | c.*29 others(34): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91186166 | TCCTCTCC others(8): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01106.hp1 HG01175.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0136a0001c0001t0002g0132a0001c0001t0003g0097others(3): Show | 6 | 168 | 0.0357 | -15 | c.*29 others(34): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK15_chr2_201801537_201900550 | 201803689 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288 | 1 | 322 | 0.0031 | -15 | c.-29 others(26): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 2847 | chr2 | TogoVar | ||||||
CDK15_chr2_201801537_201900550 | 201818964 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0001 | 2 | 322 | 0.0062 | -15 | c.449 others(32): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CDK17_chr12_96273261_96405439 | 96327373 | TGGTGGCT others(8): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01952.hp2 HG01993.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0230a0001c0001t0009g0231a0001c0001t0009g0232others(3): Show | 6 | 346 | 0.0173 | -15 | c.119 others(32): Show |
CDK17 | ENSG00000059758.8 | transcript | ENST00000261211.8 | protein_coding | 2/16 | chr12 | TogoVar | ||||||
CDK5RAP2_chr9_120383875_120585167 | 120397551 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0005 | a0005c0031 | a0005c0031t0001 | a0005c0031t0001g0223 | 1 | 232 | 0.0043 | -15 | c.545 others(34): Show |
CDK5RAP2 | ENSG00000136861.19 | transcript | ENST00000349780.9 | protein_coding | 35/37 | chr9 | TogoVar | ||||||
CDK6_chr7_92599921_92841573 | 92601186 | TTAATGTA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp2 HG02280.hp1 HG02451.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0047a0001c0001t0001g0053a0001c0001t0002g0082others(14): Show | 17 | 124 | 0.1371 | -15 | c.*13 others(28): Show |
CDK6 | ENSG00000105810.10 | transcript | ENST00000424848.3 | protein_coding | 3734 | chr7 | TogoVar | ||||||
CDK8_chr13_26249129_26410238 | 26271806 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(67): Show | 72 | 328 | 0.2195 | -15 | c.128 others(34): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CDK9_chr9_127781034_127795792 | 127795734 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0002 | 1 | 412 | 0.0024 | -15 | c.*61 others(26): Show |
CDK9 | ENSG00000136807.14 | transcript | ENST00000373264.5 | protein_coding | 4943 | chr9 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20613249 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03139.hp1 HG04228.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0003a0001c0001t0009a0001c0001t0021others(2): Show | a0001c0001t0003g0082a0001c0001t0009g0138a0001c0001t0021g0177others(2): Show | 5 | 196 | 0.0255 | -15 | c.287 others(34): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20750951 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0013 | 1 | 196 | 0.0051 | -15 | c.469 others(32): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20797760 | CTTTATTT others(8): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01934.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(18): Show | a0001c0001t0001g0136a0001c0001t0006g0011a0001c0001t0014g0072others(19): Show | 22 | 196 | 0.1122 | -15 | c.638 others(34): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20853387 | AAAACAAA others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0007a0001c0001t0001g0065a0001c0001t0001g0070others(61): Show | 64 | 196 | 0.3265 | -15 | c.742 others(32): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21069770 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0053 | 1 | 196 | 0.0051 | -15 | c.123 others(34): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21203215 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG01515.hp2 HG03139.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0023a0001c0001t0042a0001c0011t0004 | a0001c0001t0023g0115a0001c0001t0042g0142a0001c0011t0004g0100 | 3 | 196 | 0.0153 | -15 | c.154 others(34): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21209204 | CTGTACAC others(8): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0012 | a0001c0012t0008 | a0001c0012t0008g0129 | 1 | 196 | 0.0051 | -15 | c.154 others(34): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 15/15 | chr6 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50385070 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 306 | 0.0033 | -15 | c.168 others(34): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75571671 | GTTTTTTT others(8): Show |
G | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 306 | 0.0033 | -15 | c.*75 others(26): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 4824 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75629938 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0092a0001c0001t0009g0093 | 2 | 306 | 0.0065 | -15 | c.-30 others(29): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 1/13 | chr4 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39202238 | CAAACAAA others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01099.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0002c0002t0001a0003c0005t0001 | a0001c0001t0001g0076a0001c0001t0001g0088a0001c0001t0001g0105others(12): Show | 15 | 290 | 0.0517 | -15 | c.454 others(32): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 5/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39220998 | TTTGTTTT others(8): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01081.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0212a0001c0001t0001g0215a0001c0001t0001g0222others(3): Show | 6 | 290 | 0.0207 | -15 | c.290 others(32): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39221009 | TTTTGTTT others(8): Show |
T | intron_variant | MODIFIER | NA18998.hp2 NA19058.hp2 NA19074.hp2 |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0006c0004t0001 | a0001c0001t0001g0211a0001c0001t0001g0214a0006c0004t0001g0210 | 3 | 290 | 0.0103 | -15 | c.290 others(32): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39243113 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 290 | 0.0035 | -15 | c.-57 others(30): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18442467 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0035 | a0001c0001t0034g0015a0001c0001t0035g0148 | 2 | 192 | 0.0104 | -15 | c.-16 others(36): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18518388 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01943.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0052a0001c0001t0005g0099 | 2 | 192 | 0.0104 | -15 | c.99+ others(30): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18556882 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0155 | 1 | 192 | 0.0052 | -15 | c.100 others(32): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18626701 | TCTCTCTC others(8): Show |
T | intron_variant | MODIFIER | NA18953.hp1 | a0003 | a0003c0004 | a0003c0004t0026 | a0003c0004t0026g0079 | 1 | 192 | 0.0052 | -15 | c.249 others(34): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826014 | CAGAAGAA others(8): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 | 1 | 418 | 0.0024 | -15 | c.244 others(30): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826029 | GAGAAGAA others(8): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01934.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0037a0001c0001t0001g0167a0001c0001t0001g0364others(2): Show | 7 | 418 | 0.0168 | -15 | c.244 others(30): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826083 | AAGAAGAA others(8): Show |
A | intron_variant | MODIFIER | NA19054.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0177a0001c0001t0002g0302 | 2 | 418 | 0.0048 | -15 | c.244 others(30): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar |