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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS9_chr7_33124564_33611069 | 33129794 | G | A | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0012 | a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0232 others(6): Show |
9 | 266 | 0.0338 | 0 | c.-25 others(4): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/23 | 16459 | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33129825 | T | TGCTGCCT others(6): Show |
5_prime_UTR_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0212 a0001c0001t0012g0213 |
2 | 266 | 0.0075 | 13 | c.-22 others(22): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 1/23 | 16411 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107523001 | G | C | 5_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015a0001c0001t0021 | a0001c0001t0010g0036 a0001c0001t0010g0101 a0001c0001t0010g0104 others(3): Show |
6 | 220 | 0.0273 | 0 | c.-26 others(4): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 1/18 | 187460 | chr3 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107580251 | G | A | 5_prime_UTR_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0249 | 1 | 396 | 0.0025 | 0 | c.-65 others(3): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 1/8 | 522 | chr7 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75251512 | T | C | 5_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02300.hp2 HG02683.hp1 others(3): Show |
a0002a0006 | a0002c0015a0006c0011 | a0002c0015t0006a0002c0015t0027a0006c0011t0006 | a0002c0015t0006g0228 a0002c0015t0027g0229 a0006c0011t0006g0018 |
6 | 390 | 0.0154 | 0 | c.-30 others(3): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/7 | 30 | chr16 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75251609 | C | T | 5_prime_UTR_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0046 | 1 | 390 | 0.0026 | 0 | c.-12 others(4): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/7 | 127 | chr16 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93681618 | G | T | 5_prime_UTR_variant | MODIFIER | HG02451.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 a0001c0001t0003g0008 |
2 | 200 | 0.0100 | 0 | c.-32 others(3): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/12 | 6688 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93681667 | GCGCGGCC others(19): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02145.hp2 | a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0185 | 1 | 200 | 0.0050 | -26 | c.-10 others(34): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/12 | 6738 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93681743 | G | A | 5_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02572.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0002a0002c0003t0002a0003c0004t0002others(3): Show | a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0195 others(10): Show |
13 | 200 | 0.0650 | 0 | c.-15 others(4): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/12 | 6813 | chr1 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93681792 | C | T | 5_prime_UTR_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 200 | 0.0050 | 0 | c.-20 others(4): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/12 | 6862 | chr1 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54058720 | G | T | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(47): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0007a0003c0003others(4): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0015others(15): Show | a0001c0001t0004g0121 a0001c0001t0004g0312 a0001c0001t0004g0327 others(47): Show |
50 | 362 | 0.1381 | 0 | c.-2C others(2): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 2/13 | 2 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54070488 | C | T | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(62): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0001c0017others(11): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0012others(26): Show | a0001c0001t0005g0020 a0001c0001t0007g0016 a0001c0001t0007g0021 others(60): Show |
65 | 362 | 0.1796 | 0 | c.-61 others(3): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/13 | 11770 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54070518 | C | A | 5_prime_UTR_variant | MODIFIER | HG02486.hp1 HG02647.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0037a0001c0001t0066a0002c0002t0037 | a0001c0001t0037g0356 a0001c0001t0066g0357 a0002c0002t0037g0355 |
3 | 362 | 0.0083 | 0 | c.-91 others(3): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/13 | 11800 | chr20 | TogoVar | ||||||
BCAS2_chr1_114562557_114586615 | 114581604 | A | G | 5_prime_UTR_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 | 1 | 412 | 0.0024 | 0 | c.-13 others(3): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 1/7 | 13 | chr1 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24948968 | G | C | 5_prime_UTR_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0297 | 1 | 320 | 0.0031 | 0 | c.-36 others(3): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/11 | 36 | chr12 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165837337 | C | T | 5_prime_UTR_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01517.hp2 others(7): Show |
a0002a0005 | a0002c0002a0005c0004 | a0002c0002t0004a0005c0004t0004 | a0002c0002t0004g0002 a0002c0002t0004g0003 a0002c0002t0004g0036 others(1): Show |
10 | 302 | 0.0331 | 0 | c.-32 others(3): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 1/4 | 6304 | chr3 | TogoVar | ||||||
BCKDK_chr16_31103386_31117791 | 31109199 | C | T | 5_prime_UTR_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 298 | 0.0034 | 0 | c.-25 others(3): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 2/12 | 25 | chr16 | TogoVar | ||||||
BCL10_chr1_85260776_85281632 | 85276454 | G | A | 5_prime_UTR_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0098 | 1 | 444 | 0.0023 | 0 | c.-10 others(4): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 1/3 | 102 | chr1 | TogoVar | ||||||
BCL10_chr1_85260776_85281632 | 85276472 | G | T | 5_prime_UTR_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0047 | 1 | 438 | 0.0023 | 0 | c.-12 others(4): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 1/3 | 120 | chr1 | TogoVar | ||||||
BCL10_chr1_85260776_85281632 | 85276581 | G | C | 5_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0017 | a0001c0001t0008g0009 a0001c0001t0017g0032 |
11 | 444 | 0.0248 | 0 | c.-22 others(4): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 1/3 | 229 | chr1 | TogoVar | ||||||
BCL10_chr1_85260776_85281632 | 85276609 | C | T | 5_prime_UTR_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0046 | 1 | 444 | 0.0023 | 0 | c.-25 others(4): Show |
BCL10 | ENSG00000142867.14 | transcript | ENST00000648566.1 | protein_coding | 1/3 | 257 | chr1 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553404 | C | T | 5_prime_UTR_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0193 | 1 | 260 | 0.0038 | 0 | c.-13 others(4): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 134 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553422 | A | T | 5_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0259 | 1 | 260 | 0.0038 | 0 | c.-15 others(4): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 152 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553482 | CAAAAAAA others(4): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0006 | 1 | 258 | 0.0039 | -11 | c.-22 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 213 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553508 | A | AG | 5_prime_UTR_variant | MODIFIER | HG01358.hp1 HG02486.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0019a0001c0002t0017 | a0001c0001t0017g0015 a0001c0001t0019g0013 a0001c0001t0019g0014 others(2): Show |
5 | 254 | 0.0197 | 1 | c.-23 others(10): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 239 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553508 | A | G | 5_prime_UTR_variant | MODIFIER | HG01515.hp1 HG01943.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0027a0001c0002t0014 | a0001c0001t0014g0007 a0001c0001t0014g0010 a0001c0001t0027g0006 others(2): Show |
5 | 254 | 0.0197 | 0 | c.-23 others(4): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 238 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553510 | A | AGAG | 5_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01358.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0035a0001c0001t0036others(4): Show | a0001c0001t0004g0066 a0001c0001t0004g0069 a0001c0001t0004g0070 others(20): Show |
23 | 197 | 0.1168 | 3 | c.-24 others(12): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 241 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553510 | A | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 others(59): Show |
63 | 237 | 0.2658 | 0 | c.-24 others(4): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 240 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAAAA others(6): Show |
5_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0257 | 1 | 60 | 0.0167 | 13 | c.-24 others(22): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAAAA others(5): Show |
5_prime_UTR_variant | MODIFIER | HG01361.hp2 HG01975.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0016 | a0001c0001t0016g0253 a0001c0001t0016g0255 a0001c0001t0016g0256 others(1): Show |
4 | 63 | 0.0635 | 12 | c.-24 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAAAA others(4): Show |
5_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02818.hp1 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0064a0001c0001t0065 | a0001c0001t0013g0247 a0001c0001t0013g0248 a0001c0001t0013g0249 others(4): Show |
7 | 66 | 0.1061 | 11 | c.-24 others(20): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAAAG others(3): Show |
5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01123.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0001t0024a0001c0001t0063others(2): Show | a0001c0001t0006g0235 a0001c0001t0006g0238 a0001c0001t0006g0239 others(10): Show |
13 | 72 | 0.1806 | 10 | c.-24 others(19): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAAGA others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01071.hp1 HG01515.hp2 HG01981.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0220 others(12): Show |
15 | 74 | 0.2027 | 9 | c.-24 others(18): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAGAG others(1): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG02109.hp1 HG02300.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0012a0001c0001t0060a0001c0001t0061others(1): Show | a0001c0001t0012g0212 a0001c0001t0012g0214 a0001c0001t0012g0216 others(4): Show |
7 | 66 | 0.1061 | 8 | c.-24 others(17): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAGAGG | 5_prime_UTR_variant | MODIFIER | HG02027.hp2 HG02109.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0018a0001c0001t0057a0001c0001t0059others(1): Show | a0001c0001t0018g0206 a0001c0001t0018g0208 a0001c0001t0018g0210 others(3): Show |
6 | 65 | 0.0923 | 7 | c.-24 others(16): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAGAGG | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG01243.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0023a0001c0001t0054others(3): Show | a0001c0001t0009g0194 a0001c0001t0009g0196 a0001c0001t0009g0197 others(9): Show |
12 | 71 | 0.1690 | 6 | c.-24 others(15): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAGAGG | 5_prime_UTR_variant | MODIFIER | HG00597.hp1 HG01168.hp2 HG01169.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0015others(12): Show | a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 others(47): Show |
51 | 110 | 0.4636 | 5 | c.-24 others(14): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AGG | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0010a0001c0001t0020others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 others(48): Show |
52 | 111 | 0.4685 | 2 | c.-24 others(11): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | G | 5_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01358.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0014a0001c0001t0017others(10): Show | a0001c0001t0004g0066 a0001c0001t0004g0069 a0001c0001t0004g0070 others(30): Show |
33 | 92 | 0.3587 | 0 | c.-24 others(4): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 241 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553515 | G | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0021 others(197): Show |
202 | 203 | 0.9951 | 0 | c.-24 others(4): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 245 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60553515 | G | GGAGA | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(54): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0002g0002 a0001c0001t0002g0089 a0001c0001t0002g0090 others(53): Show |
57 | 58 | 0.9828 | 4 | c.-24 others(13): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 246 | chr2 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99271290 | CCGCCGCC others(1): Show |
C | 5_prime_UTR_variant | MODIFIER | NA18948.hp2 NA19058.hp1 NA19088.hp2 |
a0001 | a0001c0002 | a0001c0002t0019a0001c0002t0052 | a0001c0002t0019g0139 a0001c0002t0019g0140 a0001c0002t0052g0141 |
3 | 348 | 0.0086 | -8 | c.-80 others(15): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 73 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99271298 | G | GCGCCGCT others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0002g0064 a0001c0001t0005g0002 a0001c0001t0005g0293 others(39): Show |
43 | 344 | 0.1250 | 9 | c.-89 others(16): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 81 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99271298 | G | GCGCGCTG others(13): Show |
5_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0342 | 1 | 302 | 0.0033 | 20 | c.-81 others(27): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 81 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99271298 | GCGCCGCT others(23): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0229 | 1 | 302 | 0.0033 | -30 | c.-11 others(38): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 81 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99271305 | T | C | 5_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0342 | 1 | 344 | 0.0029 | 0 | c.-87 others(3): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 87 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99271305 | T | TGCCGCCG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02602.hp2 HG02683.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0068a0001c0001t0069a0001c0001t0078 | a0001c0001t0068g0288 a0001c0001t0069g0289 a0001c0001t0078g0343 |
3 | 346 | 0.0087 | 21 | c.-10 others(29): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 88 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99271314 | T | C | 5_prime_UTR_variant | MODIFIER | HG02922.hp2 HG03041.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0029a0001c0001t0070others(1): Show | a0001c0001t0028g0003 a0001c0001t0029g0004 a0001c0001t0070g0290 others(1): Show |
4 | 336 | 0.0119 | 0 | c.-96 others(3): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 96 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99271314 | T | TGCCGCC | 5_prime_UTR_variant | MODIFIER | NA18966.hp2 NA18968.hp1 NA18969.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0053 | a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0012g0147 others(5): Show |
8 | 340 | 0.0235 | 6 | c.-10 others(14): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 97 | chr14 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99271314 | TGCCGCCG others(8): Show |
T | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00642.hp2 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0011 a0001c0002t0016g0012 |
2 | 334 | 0.0060 | -15 | c.-11 others(23): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 1/4 | 97 | chr14 | TogoVar |