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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPLX1_chr4_779957_831129 | 826350 | G | GGGGGCGG others(10): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0220 | 1 | 397 | 0.0025 | 17 | c.-38 others(26): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 222 | chr4 | TogoVar | |||||||
CPLX2_chr5_175866578_175889021 | 175871456 | A | AGAGAGAG others(10): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0019 | 1 | 330 | 0.0030 | 17 | c.-33 others(26): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 121 | chr5 | TogoVar | |||||||
CPLX2_chr5_175866578_175889021 | 175879068 | G | GCAGATCC others(10): Show |
splice_region_variant others(1): Show |
LOW | HG01243.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 376 | 0.0027 | 17 | c.196 others(26): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CPNE3_chr8_86509435_86566498 | 86527946 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0142 | 1 | 110 | 0.0091 | 17 | c.-10 others(32): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPNE3_chr8_86509435_86566498 | 86552962 | G | GCCCCCCC others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01928.hp1 HG02148.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0099 others(6): Show |
9 | 193 | 0.0466 | 17 | c.112 others(36): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131700054 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0032 | 1 | 31 | 0.0323 | 17 | c.361 others(30): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 3/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131717853 | G | GCTCCCTT others(10): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01069.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0015 others(51): Show |
54 | 89 | 0.6067 | 17 | c.360 others(34): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 3/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131737115 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18939.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0014a0001c0003t0002 | a0001c0002t0014g0065 a0001c0003t0002g0071 |
2 | 27 | 0.0741 | 17 | c.181 others(36): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131743962 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 19 | 0.0526 | 17 | c.181 others(36): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131801338 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0011a0001c0002t0011a0001c0003t0001others(1): Show | a0001c0001t0011g0093 a0001c0002t0011g0094 a0001c0003t0001g0030 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 | |||||||
CPNE5_chr6_36735775_36844444 | 36768225 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00673.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0088 others(19): Show |
22 | 90 | 0.2444 | 17 | c.738 others(34): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587755 | A | ACCCACAG others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 333 | 0.0030 | 17 | c.927 others(32): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38736234 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG01070.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0003g0031 others(40): Show |
43 | 154 | 0.2792 | 17 | c.723 others(34): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96767635 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 33 | 0.0303 | 17 | c.-34 others(36): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96854530 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01517.hp1 HG01884.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 others(5): Show |
8 | 68 | 0.1176 | 17 | c.641 others(36): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 97099115 | C | CTCTCTCT others(10): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02004.hp2 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0047 a0006c0010t0001g0045 |
2 | 24 | 0.0833 | 17 | c.125 others(38): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92165854 | C | CTTTTTTT others(10): Show |
3_prime_UTR_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0161 | a0001c0001t0161g0032 | 1 | 75 | 0.0133 | 17 | c.*41 others(28): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 16/16 | 4136 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0201 | 1 | 161 | 0.0062 | 17 | c.103 others(34): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0217 a0001c0001t0007g0195 |
2 | 162 | 0.0123 | 17 | c.103 others(34): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18963.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 a0001c0001t0003g0225 a0001c0001t0003g0243 |
3 | 163 | 0.0184 | 17 | c.103 others(34): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPSF6_chr12_69234569_69279358 | 69249152 | C | CGGTGGGG others(10): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02135.hp2 HG03688.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(3): Show | a0001c0002t0001g0003 a0001c0002t0001g0098 a0001c0002t0001g0103 others(5): Show |
8 | 163 | 0.0491 | 17 | c.61- others(32): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CPSF7_chr11_61397729_61434975 | 61434591 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 131 | 0.0076 | 17 | c.-47 others(28): Show |
CPSF7 | ENSG00000149532.16 | transcript | ENST00000439958.8 | protein_coding | 4617 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68838571 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02717.hp1 HG03516.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0217 a0001c0001t0004g0215 others(2): Show |
5 | 125 | 0.0400 | 17 | c.-14 others(34): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | |||||||
CPT1C_chr19_49686116_49718731 | 49695709 | A | AACACTAG others(10): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 348 | 0.0029 | 17 | c.142 others(34): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49712343 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 300 | 0.0033 | 17 | c.202 others(34): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPVL_chr7_28990235_29151537 | 29000408 | T | TGTGGAAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0049 a0001c0001t0001g0234 a0001c0001t0001g0249 others(1): Show |
4 | 280 | 0.0143 | 17 | c.132 others(36): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123809709 | T | TGTGTTAA others(10): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02027.hp2 HG02055.hp2 others(8): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0002a0001c0003t0001a0001c0008t0002others(7): Show | a0001c0001t0002g0258 a0001c0003t0001g0127 a0001c0008t0002g0256 others(8): Show |
11 | 286 | 0.0385 | 17 | c.654 others(36): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 4/13 | chr10 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8622800 | G | GAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG02257.hp2 HG02451.hp2 others(2): Show |
a0002a0005 | a0002c0014a0005c0005 | a0002c0014t0002a0005c0005t0002a0005c0005t0010 | a0002c0014t0002g0022 a0002c0014t0002g0243 a0005c0005t0002g0006 others(1): Show |
5 | 431 | 0.0116 | 17 | c.*31 others(28): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 3049 | chr4 | TogoVar | |||||||
CR1_chr1_207491157_207646765 | 207527202 | G | GCTTAAAA others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02451.hp1 others(10): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 a0005c0006t0001g0030 a0005c0006t0001g0083 others(9): Show |
13 | 268 | 0.0485 | 17 | c.116 others(32): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR2_chr1_207449328_207494892 | 207486230 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02083.hp2 NA18946.hp2 others(11): Show |
a0001a0024 | a0001c0001a0001c0003a0024c0032 | a0001c0001t0001a0001c0003t0001a0024c0032t0001 | a0001c0001t0001g0030 a0001c0001t0001g0085 a0001c0001t0001g0122 others(9): Show |
14 | 170 | 0.0824 | 17 | c.*18 others(32): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRACDL_chr2_98788846_98941225 | 98795077 | A | ATATTTTT others(10): Show |
intron_variant | MODIFIER | HG02004.hp1 NA19057.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0182 a0003c0003t0001g0260 |
2 | 52 | 0.0385 | 17 | c.275 others(34): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
CRACDL_chr2_98788846_98941225 | 98795077 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03834.hp2 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0001a0005c0005t0001 | a0003c0003t0001g0155 a0005c0005t0001g0032 |
2 | 52 | 0.0385 | 17 | c.275 others(34): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
CRACDL_chr2_98788846_98941225 | 98866475 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 | 1 | 202 | 0.0050 | 17 | c.-10 others(36): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CRACDL_chr2_98788846_98941225 | 98891376 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01258.hp2 NA18906.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0176 |
3 | 90 | 0.0333 | 17 | c.-11 others(36): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CRACD_chr4_56044098_56335609 | 56286525 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0004 | a0004c0004 | a0004c0004t0014 | a0004c0004t0014g0086 | 1 | 47 | 0.0213 | 17 | c.-16 others(36): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACR2A_chr12_3610328_3758109 | 3621648 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02647.hp2 others(3): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0201 a0001c0001t0001g0302 others(3): Show |
6 | 27 | 0.2222 | 17 | c.193 others(36): Show |
CRACR2A | ENSG00000130038.10 | transcript | ENST00000440314.7 | protein_coding | 17/19 | chr12 | TogoVar | |||||||
CRB1_chr1_197263252_197483455 | 197290305 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0132 | 1 | 181 | 0.0055 | 17 | c.70+ others(34): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
CRB2_chr9_123351197_123383753 | 123359430 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0111 | 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 | 123378798 | G | GTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 215 | 0.0047 | 17 | c.*17 others(28): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 46 | chr9 | TogoVar | |||||||
CRBN_chr3_3145011_3184691 | 3181983 | T | TATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0139 a0001c0001t0012g0046 |
2 | 373 | 0.0054 | 17 | c.-22 others(28): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 2293 | chr3 | TogoVar | |||||||
CRBN_chr3_3145011_3184691 | 3181984 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0098 a0001c0001t0001g0134 |
4 | 357 | 0.0112 | 17 | c.-22 others(28): Show |
CRBN | ENSG00000113851.16 | transcript | ENST00000231948.9 | protein_coding | 2294 | chr3 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137927278 | G | GAAAGGAG others(10): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02809.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0055a0002c0002t0015a0002c0002t0018others(3): Show | a0001c0001t0055g0023 a0002c0002t0015g0068 a0002c0002t0018g0033 others(5): Show |
8 | 218 | 0.0367 | 17 | c.319 others(32): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
CREB3L3_chr19_4148631_4178054 | 4173433 | G | GTCGCCCC others(10): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0208 | 1 | 402 | 0.0025 | 17 | c.*14 others(28): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 380 | chr19 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3759588 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG02055.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0028others(3): Show | a0001c0001t0004a0001c0001t0024a0001c0007t0002others(6): Show | a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 others(12): Show |
15 | 226 | 0.0664 | 17 | c.325 others(34): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 16/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3768136 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0006 | a0002c0006t0019 | a0002c0006t0019g0238 | 1 | 30 | 0.0333 | 17 | c.306 others(34): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 15/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3787070 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0018 | a0001c0018t0031 | a0001c0018t0031g0009 | 1 | 256 | 0.0039 | 17 | c.133 others(36): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 5/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3802114 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0033 | a0001c0033t0004 | a0001c0033t0004g0234 | 1 | 34 | 0.0294 | 17 | c.975 others(34): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 3/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849432 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 283 | 0.0035 | 17 | c.798 others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849440 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18943.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0012 | a0001c0001t0001g0092 a0001c0002t0012g0262 |
2 | 280 | 0.0071 | 17 | c.798 others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849446 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0197 | 1 | 276 | 0.0036 | 17 | c.798 others(32): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar |