| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CRADD_chr12_93672375_93855756 | 93694893 | TGATTTAT others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02572.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0093a0001c0001t0001g0094others(3): Show | 6 | 248 | 0.0242 | -8 | c.298 others(27): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CRADD_chr12_93672375_93855756 | 93726094 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG02040.hp1 HG02280.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0010a0001c0001t0001g0021a0001c0001t0001g0108others(14): Show | 17 | 248 | 0.0686 | -8 | c.298 others(27): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CRADD_chr12_93672375_93855756 | 93810551 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01099.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0001g0026others(20): Show | 23 | 248 | 0.0927 | -8 | c.299 others(27): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CRB1_chr1_197263252_197483455 | 197309753 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02129.hp1 NA18612.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0133a0001c0001t0001g0163a0002c0003t0001g0130others(2): Show | 5 | 186 | 0.0269 | -8 | c.71- others(25): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CRB1_chr1_197263252_197483455 | 197311698 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00738.hp2 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0080a0001c0001t0001g0096a0001c0001t0001g0099others(18): Show | 21 | 186 | 0.1129 | -8 | c.71- others(25): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CRB1_chr1_197263252_197483455 | 197432357 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0044a0001c0001t0001g0083a0001c0001t0001g0089others(12): Show | 15 | 186 | 0.0807 | -8 | c.284 others(27): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CRB3_chr19_6459271_6472221 | 6461233 | GTTTTTTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01891.hp1 HG02055.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0003a0002c0004t0005 | a0001c0002t0001g0002a0001c0002t0001g0004a0001c0002t0003g0007others(1): Show | 8 | 390 | 0.0205 | -8 | c.-32 others(19): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | ||||||
| CRBN_chr3_3145011_3184691 | 3183951 | AGTGTGTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG02615.hp2 HG03195.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0147a0001c0001t0002g0164a0001c0001t0002g0172others(3): Show | 7 | 376 | 0.0186 | -8 | c.-42 others(19): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 4261 | chr3 | TogoVar | ||||||
| CRCP_chr7_66109847_66159568 | 66151673 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01074.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0270a0001c0001t0001g0302a0001c0001t0002g0010others(17): Show | 22 | 380 | 0.0579 | -8 | c.298 others(23): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CRCT1_chr1_152509482_152521008 | 152512802 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG02027.hp2 others(9): Show |
a0001a0004 | a0001c0004a0004c0006 | a0001c0004t0001a0004c0006t0004a0004c0006t0006 | a0001c0004t0001g0009a0004c0006t0004g0006a0004c0006t0006g0008 | 12 | 432 | 0.0278 | -8 | c.-17 others(19): Show |
CRCT1 | ENSG00000169509.6 | transcript | ENST00000368790.4 | protein_coding | 1679 | chr1 | TogoVar | ||||||
| CRCT1_chr1_152509482_152521008 | 152514136 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00741.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(2): Show | a0001c0001t0001g0001a0001c0002t0002g0001a0001c0002t0008g0001others(2): Show | 55 | 432 | 0.1273 | -8 | c.-43 others(17): Show |
CRCT1 | ENSG00000169509.6 | transcript | ENST00000368790.4 | protein_coding | 345 | chr1 | TogoVar | ||||||
| CREB3L1_chr11_46272662_46326409 | 46274320 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG02155.hp1 others(13): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0024a0001c0001t0001g0175others(10): Show | 16 | 304 | 0.0526 | -8 | c.-37 others(19): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 3341 | chr11 | TogoVar | ||||||
| CREB3L1_chr11_46272662_46326409 | 46305726 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02922.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0055a0001c0001t0008g0056a0001c0001t0008g0057 | 3 | 304 | 0.0099 | -8 | c.332 others(25): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CREB3L1_chr11_46272662_46326409 | 46326399 | GAGGGAGG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01496.hp2 HG03834.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0181a0001c0001t0001g0212a0001c0001t0002g0014 | 3 | 304 | 0.0099 | -8 | c.*56 others(19): Show |
CREB3L1 | ENSG00000157613.11 | transcript | ENST00000621158.5 | protein_coding | 4991 | chr11 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 137876331 | CGTGTGTG others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0011others(5): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0012others(16): Show | a0001c0001t0005g0002a0001c0001t0005g0016a0001c0001t0005g0022others(35): Show | 39 | 288 | 0.1354 | -8 | c.*41 others(19): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 12/12 | 4137 | chr7 | TogoVar | |||||
| CREB3L2_chr7_137869979_138007086 | 137898960 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01891.hp2 others(41): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(27): Show | a0001c0001t0003g0055a0001c0001t0005g0016a0001c0001t0005g0030others(41): Show | 44 | 288 | 0.1528 | -8 | c.104 others(27): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 137899096 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0090a0001c0001t0001g0101a0001c0001t0001g0110others(20): Show | 24 | 288 | 0.0833 | -8 | c.104 others(27): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 137917341 | GAAACGAC others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0010a0001c0004t0017others(3): Show | a0001c0001t0008g0210a0001c0004t0010g0078a0001c0004t0010g0162others(6): Show | 9 | 288 | 0.0313 | -8 | c.320 others(25): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 137972736 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01081.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0028others(17): Show | a0001c0001t0003g0042a0001c0001t0011g0199a0001c0001t0028g0028others(22): Show | 26 | 288 | 0.0903 | -8 | c.102 others(27): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CREB3L2_chr7_137869979_138007086 | 138001082 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02559.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0005a0001c0004t0067a0002c0002t0069others(3): Show | a0001c0001t0005g0271a0001c0004t0067g0286a0002c0002t0069g0285others(3): Show | 6 | 288 | 0.0208 | -8 | c.102 others(23): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CREB3L3_chr19_4148631_4178054 | 4160911 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02486.hp1 others(18): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0009a0001c0005t0006 | a0001c0001t0001g0047a0001c0001t0001g0125a0001c0001t0001g0211others(18): Show | 21 | 404 | 0.0520 | -8 | c.576 others(25): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CREB3L3_chr19_4148631_4178054 | 4163328 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(60): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0015others(53): Show | 63 | 404 | 0.1559 | -8 | c.577 others(25): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CREB3L3_chr19_4148631_4178054 | 4167973 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 NA18969.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154a0001c0001t0004g0233a0001c0001t0004g0238 | 3 | 404 | 0.0074 | -8 | c.715 others(23): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CREB3L4_chr1_153962902_153979359 | 153966624 | AAAACAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00621.hp1 others(111): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0045a0002c0002t0001g0003a0002c0002t0001g0005others(31): Show | 114 | 394 | 0.2893 | -8 | c.-15 others(19): Show |
CREB3L4 | ENSG00000143578.16 | transcript | ENST00000368607.8 | protein_coding | 1277 | chr1 | TogoVar | ||||||
| CREB5_chr7_28407518_28830894 | 28421918 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0043others(93): Show | 96 | 198 | 0.4849 | -8 | c.3+9 others(21): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28451450 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01192.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0041a0001c0001t0001g0081others(17): Show | 20 | 198 | 0.1010 | -8 | c.4-3 others(23): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28464496 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0050 | a0001c0001t0021g0001a0001c0001t0050g0032 | 2 | 198 | 0.0101 | -8 | c.4-2 others(23): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28524316 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0002g0027a0001c0001t0002g0028a0001c0001t0002g0116others(7): Show | 10 | 198 | 0.0505 | -8 | c.291 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28607735 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG02109.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0048a0001c0001t0001g0078others(17): Show | 20 | 198 | 0.1010 | -8 | c.464 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28608113 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00735.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0041others(41): Show | 44 | 198 | 0.2222 | -8 | c.464 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28608115 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01243.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0053a0001c0001t0003g0150others(2): Show | 5 | 198 | 0.0253 | -8 | c.464 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28611672 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01243.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0120a0001c0001t0002g0143a0001c0001t0004g0098others(4): Show | 7 | 198 | 0.0354 | -8 | c.464 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28612543 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01891.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0013a0001c0001t0002g0113a0001c0001t0002g0165others(5): Show | 8 | 198 | 0.0404 | -8 | c.464 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28622259 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0002g0158a0001c0001t0005g0159a0001c0001t0005g0172others(6): Show | 9 | 198 | 0.0455 | -8 | c.464 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28624998 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG03516.hp1 NA18522.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012 | a0001c0001t0002g0017a0001c0001t0002g0136a0001c0001t0005g0164others(2): Show | 5 | 198 | 0.0253 | -8 | c.464 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28658953 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | NA19240.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0017a0001c0001t0012g0141 | 2 | 198 | 0.0101 | -8 | c.465 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28689909 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01168.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0078a0001c0001t0002g0033a0001c0001t0002g0038others(12): Show | 15 | 198 | 0.0758 | -8 | c.465 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28727930 | CTGTTTGT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0153a0001c0001t0012g0119 | 2 | 198 | 0.0101 | -8 | c.702 others(25): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28734206 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG00741.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(4): Show | a0001c0001t0003g0006a0001c0001t0003g0010a0001c0001t0003g0031others(14): Show | 17 | 198 | 0.0859 | -8 | c.702 others(25): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28737538 | CGTATATA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0101a0001c0001t0014g0049 | 2 | 198 | 0.0101 | -8 | c.702 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | chr7 | TogoVar | ||||||
| CREB5_chr7_28407518_28830894 | 28737539 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01884.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0004a0001c0001t0001g0015a0001c0001t0001g0048others(20): Show | 23 | 198 | 0.1162 | -8 | c.702 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREB5_chr7_28407518_28830894 | 28790428 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02155.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0019 | a0001c0001t0004g0051a0001c0001t0010g0144a0001c0001t0010g0145others(4): Show | 7 | 198 | 0.0354 | -8 | c.703 others(27): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CREBBP_chr16_3720054_3885713 | 3814215 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(41): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0030a0001c0001t0001g0034others(41): Show | 44 | 286 | 0.1539 | -8 | c.799 others(25): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
| CREBBP_chr16_3720054_3885713 | 3823957 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02615.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0032 | a0001c0001t0001a0001c0001t0009a0001c0032t0044 | a0001c0001t0001g0075a0001c0001t0001g0077a0001c0001t0001g0193others(2): Show | 5 | 286 | 0.0175 | -8 | c.799 others(27): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
| CREBBP_chr16_3720054_3885713 | 3849378 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG03491.hp1 others(2): Show |
a0001 | a0001c0001a0001c0030 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0046a0001c0001t0003g0095a0001c0001t0004g0246others(2): Show | 5 | 286 | 0.0175 | -8 | c.798 others(23): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | ||||||
| CREBBP_chr16_3720054_3885713 | 3879234 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00639.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(14): Show | a0001c0001t0001g0192a0001c0001t0001g0193a0001c0001t0008g0260others(33): Show | 36 | 286 | 0.1259 | -8 | c.85+ others(21): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
| CREBL2_chr12_12606876_12650108 | 12617643 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02976.hp1 HG03209.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186others(4): Show | 7 | 372 | 0.0188 | -8 | c.15+ others(23): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CREBL2_chr12_12606876_12650108 | 12647199 | AAAAAAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG01952.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0226a0001c0001t0001g0233a0001c0001t0001g0235others(14): Show | 17 | 372 | 0.0457 | -8 | c.*52 others(19): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 2092 | chr12 | TogoVar | ||||||
| CREBRF_chr5_173051352_173144284 | 173073980 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(106): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0205a0001c0001t0002g0206a0001c0001t0002g0209others(106): Show | 109 | 292 | 0.3733 | -8 | c.-19 others(27): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CREBRF_chr5_173051352_173144284 | 173082908 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(40): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0132a0001c0001t0002g0206a0001c0001t0002g0209others(40): Show | 43 | 292 | 0.1473 | -8 | c.9+2 others(21): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |