view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPEB3_chr10_92041692_92296078 | 92190665 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 30 | 0.0333 | -17 | c.116 others(36): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92258626 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp2 HG01515.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0005g0249 others(5): Show |
8 | 165 | 0.0485 | -17 | c.-11 others(36): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPED1_chr7_120983711_121302442 | 121298184 | TAGAAGTC others(10): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp1 HG02055.hp1 HG02647.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0006a0001c0007t0006a0001c0008t0006others(1): Show | a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0125 others(3): Show |
6 | 138 | 0.0435 | -17 | c.*25 others(28): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 743 | chr7 | TogoVar | |||||||
CPE_chr4_165374008_165503547 | 165394658 | TGGGCCCA others(10): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 others(4): Show |
7 | 330 | 0.0212 | -17 | c.307 others(36): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
CPHXL_chr16_75709131_75731490 | 75725753 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 77 | 0.0130 | -17 | c.25+ others(30): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826246 | GGGGGCGG others(10): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0354 | 1 | 414 | 0.0024 | -17 | c.-29 others(26): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 118 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826454 | GGGGGGTG others(10): Show |
G | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0376 | 1 | 382 | 0.0026 | -17 | c.-50 others(26): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 326 | chr4 | TogoVar | |||||||
CPN2_chr3_194334768_194356328 | 194349772 | CCTCTTCT others(10): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02723.hp2 others(8): Show |
a0001a0002a0004 | a0001c0005a0001c0026a0002c0001others(1): Show | a0001c0005t0006a0001c0026t0008a0002c0001t0001others(2): Show | a0001c0005t0006g0108 a0001c0026t0008g0081 a0002c0001t0001g0043 others(5): Show |
11 | 438 | 0.0251 | -17 | c.-4+ others(32): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
CPN2_chr3_194334768_194356328 | 194349778 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02055.hp1 HG02155.hp1 others(4): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0003others(1): Show | a0001c0002t0003a0001c0004t0004a0003c0003t0002others(2): Show | a0001c0002t0003g0004 a0001c0002t0003g0116 a0001c0004t0004g0037 others(3): Show |
7 | 62 | 0.1129 | -17 | c.-4+ others(32): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131547485 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02451.hp1 NA18960.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0010 | a0001c0002t0003g0061 a0001c0004t0010g0086 |
2 | 92 | 0.0217 | -17 | c.130 others(36): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 14/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131801338 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01496.hp1 NA18939.hp1 NA18960.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001a0001c0002t0014 | a0001c0001t0007g0002 a0001c0002t0001g0016 a0001c0002t0001g0017 others(1): Show |
4 | 82 | 0.0488 | -17 | c.181 others(36): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131814572 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01496.hp1 NA18946.hp1 NA18960.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0022 a0001c0001t0003g0023 a0001c0001t0005g0073 others(4): Show |
7 | 16 | 0.4375 | -17 | c.180 others(36): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131958970 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0093 | 1 | 67 | 0.0149 | -17 | c.-1- others(34): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE6_chr14_24066562_24083087 | 24080391 | GGAAACTG others(10): Show |
G | downstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 438 | 0.0023 | -17 | c.*25 others(28): Show |
CPNE6 | ENSG00000100884.10 | transcript | ENST00000689861.1 | protein_coding | 2305 | chr14 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38732417 | TTTGAAGC others(10): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0342 | 1 | 340 | 0.0029 | -17 | c.723 others(34): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96777748 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0007 | 1 | 123 | 0.0081 | -17 | c.-34 others(34): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96787525 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 30 | 0.0333 | -17 | c.433 others(34): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99446771 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 96 | 0.0104 | -17 | c.155 others(34): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPXM2_chr10_123740639_123896807 | 123758314 | AGTGGGGG others(10): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG02155.hp2 NA18987.hp1 others(2): Show |
a0001 | a0001c0002a0001c0031 | a0001c0002t0006a0001c0031t0006 | a0001c0002t0006g0092 a0001c0002t0006g0143 a0001c0002t0006g0160 others(2): Show |
5 | 286 | 0.0175 | -17 | c.177 others(34): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 11/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123854424 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01515.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0248 a0001c0003t0002g0067 |
2 | 286 | 0.0070 | -17 | c.513 others(34): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 3/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123895112 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0105 | 1 | 249 | 0.0040 | -17 | c.-34 others(28): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 3306 | chr10 | TogoVar | |||||||
CR1L_chr1_207640133_207728703 | 207725628 | CAGCCTCC others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0229 | 1 | 344 | 0.0029 | -17 | c.*19 others(28): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1926 | chr1 | TogoVar | |||||||
CR1_chr1_207491157_207646765 | 207564313 | GCTTAAAA others(10): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp2 HG03041.hp1 others(4): Show |
a0006a0017a0024 | a0006c0011a0017c0020a0024c0037 | a0006c0011t0002a0006c0011t0009a0017c0020t0001others(1): Show | a0006c0011t0002g0035 a0006c0011t0002g0071 a0006c0011t0009g0072 others(4): Show |
7 | 358 | 0.0196 | -17 | c.386 others(32): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 23/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRACDL_chr2_98788846_98941225 | 98816035 | AGGGGCTG others(10): Show |
A | intron_variant | MODIFIER | HG04115.hp1 NA18968.hp2 NA18989.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0213 a0001c0001t0001g0224 a0001c0009t0001g0238 |
3 | 314 | 0.0096 | -17 | c.241 others(36): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CRACD_chr4_56044098_56335609 | 56045005 | TCCCAGCA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 248 | 0.0040 | -17 | c.-46 others(28): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 4092 | chr4 | TogoVar | |||||||
CRACD_chr4_56044098_56335609 | 56258767 | TAGACTGG others(10): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(52): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0051 a0001c0001t0001g0209 a0001c0001t0003g0006 others(52): Show |
55 | 248 | 0.2218 | -17 | c.-18 others(38): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRADD_chr12_93672375_93855756 | 93810551 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03209.hp1 NA18972.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0150 a0001c0001t0001g0246 |
3 | 21 | 0.1429 | -17 | c.299 others(36): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CRB2_chr9_123351197_123383753 | 123359430 | GTTTTTGT others(10): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0116 | 1 | 309 | 0.0032 | -17 | c.94+ others(32): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRB2_chr9_123351197_123383753 | 123367417 | GCCCACCC others(10): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02004.hp1 HG02257.hp2 others(12): Show |
a0001a0003a0004 | a0001c0007a0003c0003a0004c0010others(1): Show | a0001c0007t0001a0001c0007t0007a0003c0003t0001others(2): Show | a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0007g0095 others(9): Show |
15 | 430 | 0.0349 | -17 | c.940 others(30): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRB3_chr19_6459271_6472221 | 6461233 | GTTTTTTT others(10): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 |
34 | 49 | 0.6939 | -17 | c.-32 others(28): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | |||||||
CRCP_chr7_66109847_66159568 | 66124044 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 19 | 0.0526 | -17 | c.9-3 others(30): Show |
CRCP | ENSG00000241258.7 | transcript | ENST00000395326.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28475250 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0038 a0001c0001t0006g0013 |
2 | 7 | 0.2857 | -17 | c.4-1 others(32): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28551987 | TTCTCTCT others(10): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0085 | 1 | 196 | 0.0051 | -17 | c.292 others(36): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3730075 | GATGGGAT others(10): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02451.hp1 others(13): Show |
a0001a0004a0006others(1): Show | a0001c0004a0001c0007a0001c0011others(5): Show | a0001c0004t0006a0001c0004t0048a0001c0007t0018others(8): Show | a0001c0004t0006g0221 a0001c0004t0006g0228 a0001c0004t0006g0230 others(13): Show |
16 | 284 | 0.0563 | -17 | c.517 others(34): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 30/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849429 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01928.hp2 NA18947.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0021a0001c0003t0001 | a0001c0001t0001g0029 a0001c0001t0001g0142 a0001c0001t0021g0038 others(1): Show |
4 | 278 | 0.0144 | -17 | c.798 others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849431 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0150 | 1 | 268 | 0.0037 | -17 | c.798 others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849433 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0063 | 1 | 273 | 0.0037 | -17 | c.798 others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849435 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | NA18988.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0125 a0001c0009t0001g0202 |
2 | 273 | 0.0073 | -17 | c.798 others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849437 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 270 | 0.0037 | -17 | c.798 others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849439 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 264 | 0.0038 | -17 | c.798 others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849443 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | NA18995.hp2 NA19007.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0032g0076 |
3 | 278 | 0.0108 | -17 | c.798 others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3852035 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02129.hp2 HG02155.hp1 others(6): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0102 a0001c0001t0001g0103 others(6): Show |
9 | 51 | 0.1765 | -17 | c.86- others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3881011 | GGGGCTCC others(10): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0111 | 1 | 284 | 0.0035 | -17 | c.-11 others(28): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 299 | chr16 | TogoVar | |||||||
CREBL2_chr12_12606876_12650108 | 12617643 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 |
3 | 33 | 0.0909 | -17 | c.15+ others(32): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CREBL2_chr12_12606876_12650108 | 12647190 | AAAAAAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18977.hp2 NA18995.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0019 |
3 | 370 | 0.0081 | -17 | c.*51 others(28): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 2083 | chr12 | TogoVar | |||||||
CREBRF_chr5_173051352_173144284 | 173132445 | CCCCTCCC others(10): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA19004.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 |
3 | 287 | 0.0105 | -17 | c.180 others(36): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CREBZF_chr11_85652990_85670129 | 85669001 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 6 | 0.1667 | -17 | c.-41 others(28): Show |
CREBZF | ENSG00000137504.15 | transcript | ENST00000527447.2 | protein_coding | 3873 | chr11 | TogoVar | |||||||
CREG2_chr2_101340550_101392503 | 101341296 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp2 NA19074.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0009 | a0001c0001t0002g0206 a0002c0002t0009g0059 |
2 | 11 | 0.1818 | -17 | c.*96 others(28): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 4253 | chr2 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49919153 | ACCCTCGA others(10): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0007a0001c0016others(9): Show | a0001c0003t0002a0001c0007t0002a0001c0016t0002others(13): Show | a0001c0003t0002g0008 a0001c0003t0002g0010 a0001c0003t0002g0034 others(58): Show |
87 | 322 | 0.2702 | -17 | c.130 others(30): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CREM_chr10_35121846_35217953 | 35149888 | AAACACAC others(10): Show |
A | intron_variant | MODIFIER | NA19000.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 a0001c0001t0002g0093 |
2 | 292 | 0.0068 | -17 | c.168 others(34): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |