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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIN2_chr12_51276038_51329174 | 51295578 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG02486.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0001c0001t0006a0003c0003t0001others(1): Show | a0001c0001t0001g0079 a0001c0001t0001g0271 a0001c0001t0001g0272 others(6): Show |
9 | 400 | 0.0225 | -45 | c.761 others(60): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13284226 | ATGTGTGT others(38): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0271 a0001c0001t0001g0272 others(3): Show |
6 | 314 | 0.0191 | -45 | c.-26 others(64): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829767 | TTTCTTTT others(38): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0040 | 1 | 204 | 0.0049 | -45 | c.297 others(62): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55853138 | TAAATAAA others(38): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0192 a0001c0001t0002g0172 a0001c0001t0005g0302 others(32): Show |
35 | 320 | 0.1094 | -45 | c.490 others(64): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57185961 | GCTCAATA others(38): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020 a0001c0001t0007g0126 |
2 | 272 | 0.0074 | -45 | c.761 others(62): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3/6 | chr20 | TogoVar | |||||||
BNIP3_chr10_131962684_131986923 | 131980971 | GGGTCTCC others(38): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG03098.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 a0001c0001t0003g0081 |
3 | 438 | 0.0069 | -45 | c.46+ others(58): Show |
BNIP3 | ENSG00000176171.12 | transcript | ENST00000368636.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13573474 | TTCTTTCT others(38): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02280.hp1 others(8): Show |
a0005a0018 | a0005c0005a0018c0037 | a0005c0005t0002a0018c0037t0005 | a0005c0005t0002g0002 a0005c0005t0002g0176 a0005c0005t0002g0177 others(2): Show |
11 | 258 | 0.0426 | -45 | c.903 others(64): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | |||||||
BPIFC_chr22_32408845_32469446 | 32424597 | TCTTCTCC others(38): Show |
T | intron_variant | MODIFIER | HG02622.hp2 NA18952.hp2 NA19006.hp2 others(1): Show |
a0001a0011 | a0001c0001a0011c0011 | a0001c0001t0002a0011c0011t0003 | a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0056 others(1): Show |
4 | 422 | 0.0095 | -45 | c.121 others(64): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1430165 | GTCTGGTC others(38): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG01515.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0020others(4): Show | a0002c0002t0002g0098 a0002c0002t0002g0164 a0002c0002t0002g0166 others(8): Show |
11 | 360 | 0.0306 | -45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1430212 | GTCTGGTC others(38): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 360 | 0.0028 | -45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1431158 | GTCTGGTC others(38): Show |
G | intron_variant | MODIFIER | HG03540.hp1 NA19091.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0019 | a0001c0001t0001g0186 a0002c0002t0019g0042 |
2 | 360 | 0.0056 | -45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1431205 | GTCTGGTC others(38): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0330 | 1 | 360 | 0.0028 | -45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1431487 | GTCTGGTC others(38): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0043 | 1 | 360 | 0.0028 | -45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1432008 | GTCTGGTC others(38): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 360 | 0.0028 | -45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1433091 | GTCTGGTC others(38): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 360 | 0.0028 | -45 | c.92- others(60): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39217035 | AAATATAT others(38): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0003 | a0004c0003t0029 | a0004c0003t0029g0015 | 1 | 338 | 0.0030 | -45 | c.365 others(64): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BTBD2_chr19_1980448_2020714 | 1987427 | GCCCCCCA others(38): Show |
G | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0082 | 1 | 364 | 0.0028 | -45 | c.118 others(60): Show |
BTBD2 | ENSG00000133243.10 | transcript | ENST00000255608.9 | protein_coding | 6/8 | chr19 | TogoVar | |||||||
BTRC_chr10_101349165_101562313 | 101415486 | TTTATGTT others(38): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01167.hp2 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0053 a0001c0001t0002g0076 a0001c0001t0005g0086 others(3): Show |
6 | 266 | 0.0226 | -45 | c.49- others(62): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23347717 | GTAAAGGA others(38): Show |
G | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 326 | 0.0031 | -45 | c.-29 others(56): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2921 | chr10 | TogoVar | |||||||
C11orf71_chr11_114393532_114405511 | 114394192 | TCTTTTCT others(38): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 2 | 422 | 0.0047 | -45 | c.*57 others(56): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 4339 | chr11 | TogoVar | |||||||
C17orf78_chr17_37370985_37397708 | 37390259 | ATAATTAT others(38): Show |
A | intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0266 | 1 | 441 | 0.0023 | -45 | c.750 others(60): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C19orf38_chr19_10843415_10874790 | 10871595 | GGCGGCGG others(38): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 384 | 0.0026 | -45 | c.*22 others(56): Show |
C19orf38 | ENSG00000214212.9 | transcript | ENST00000397820.5 | protein_coding | 1806 | chr19 | TogoVar | |||||||
C1orf174_chr1_3884133_3905272 | 3892166 | GGGTGCTA others(38): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 440 | 0.0023 | -45 | c.129 others(60): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
C1orf174_chr1_3884133_3905272 | 3892304 | GGGTGCTA others(38): Show |
G | intron_variant | MODIFIER | NA19072.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0146 | 1 | 440 | 0.0023 | -45 | c.129 others(60): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
C1orf174_chr1_3884133_3905272 | 3892350 | GGGTGCTA others(38): Show |
G | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0049 | 1 | 440 | 0.0023 | -45 | c.129 others(60): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46311275 | TTATACCT others(38): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0011 | a0011c0013 | a0011c0013t0004 | a0011c0013t0004g0063 | 1 | 378 | 0.0027 | -45 | c.721 others(60): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6022245 | CCTACAGA others(38): Show |
C | upstream_gene_variant | MODIFIER | HG01258.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0195 | 1 | 346 | 0.0029 | -45 | c.-38 others(56): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3815 | chr4 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147911208 | GTCTATTC others(38): Show |
G | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 | 1 | 452 | 0.0022 | -45 | c.-47 others(56): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 4671 | chr5 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497508 | AAAAAAAA others(38): Show |
A | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 218 | 0.0046 | -45 | c.293 others(62): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39596272 | TGGGCAGG others(38): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(73): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0008others(24): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(46): Show | a0001c0001t0003g0023 a0001c0001t0005g0007 a0001c0001t0007g0038 others(73): Show |
76 | 236 | 0.3220 | -45 | c.237 others(62): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53906057 | CCTCCTCC others(38): Show |
C | upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 364 | 0.0028 | -45 | c.-34 others(56): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3220 | chr19 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85769227 | CACACATA others(38): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0118 | 1 | 146 | 0.0069 | -45 | c.89- others(62): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72114243 | TGAAGGGA others(38): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG03130.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015a0001c0001t0049 | a0001c0001t0010g0114 a0001c0001t0015g0042 a0001c0001t0049g0130 |
3 | 142 | 0.0211 | -45 | c.245 others(62): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12691372 | TATATAAA others(38): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0166 | 1 | 214 | 0.0047 | -45 | c.299 others(64): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12691376 | TAAATATA others(38): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0087 | 1 | 214 | 0.0047 | -45 | c.299 others(64): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12751051 | AATAAGAT others(38): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01167.hp2 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0176 a0001c0001t0004g0134 a0001c0001t0005g0040 others(13): Show |
16 | 214 | 0.0748 | -45 | c.300 others(62): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12801309 | CTATCTAT others(38): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0028 | 1 | 214 | 0.0047 | -45 | c.641 others(64): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7499776 | TGTGTCCA others(38): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03041.hp2 HG03486.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0015others(3): Show | a0001c0001t0004g0026 a0001c0001t0011g0058 a0001c0001t0015g0037 others(3): Show |
6 | 58 | 0.1035 | -45 | c.510 others(64): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | chr1 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79005026 | AAGGGAGT others(38): Show |
A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0220 | 1 | 394 | 0.0025 | -45 | c.-14 others(64): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735823 | GGGGCGGG others(38): Show |
G | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0185 | 1 | 342 | 0.0029 | -45 | c.158 others(62): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230800217 | AAATAAGA others(38): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG03130.hp2 others(1): Show |
a0001a0018 | a0001c0003a0001c0005a0018c0029 | a0001c0003t0001a0001c0005t0001a0018c0029t0001 | a0001c0003t0001g0343 a0001c0003t0001g0344 a0001c0005t0001g0033 others(1): Show |
4 | 394 | 0.0102 | -45 | c.204 others(64): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116890526 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 354 | 0.0028 | -45 | c.103 others(62): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122201633 | CCCCCACC others(38): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0147 a0001c0001t0005g0148 |
2 | 314 | 0.0064 | -45 | c.-24 others(66): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88930667 | AGGGCTGG others(38): Show |
A | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0175 | 1 | 284 | 0.0035 | -45 | c.152 others(64): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975140 | CAGCCATG others(38): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01433.hp2 others(7): Show |
a0001a0003a0007 | a0001c0001a0003c0013a0007c0031 | a0001c0001t0001a0003c0013t0001a0007c0031t0001 | a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 others(7): Show |
10 | 284 | 0.0352 | -45 | c.151 others(62): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBLL1_chr7_107739142_107766667 | 107766291 | GATTTGTT others(38): Show |
G | downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 432 | 0.0023 | -45 | c.*71 others(56): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 4625 | chr7 | TogoVar | |||||||
CCDC105_chr19_15005726_15028276 | 15010174 | AGACTCTA others(38): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01255.hp2 HG01358.hp2 others(7): Show |
a0002a0009a0013others(2): Show | a0002c0002a0009c0012a0013c0021others(2): Show | a0002c0002t0001a0009c0012t0001a0013c0021t0001others(2): Show | a0002c0002t0001g0004 a0002c0002t0001g0175 a0009c0012t0001g0020 others(7): Show |
10 | 440 | 0.0227 | -45 | c.-65 others(54): Show |
CCDC105 | ENSG00000160994.4 | transcript | ENST00000292574.4 | protein_coding | 551 | chr19 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 196699 | GCCCCCAT others(38): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02922.hp2 HG03139.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0174a0001c0001t0175a0001c0002t0226 | a0001c0001t0174g0115 a0001c0001t0175g0116 a0001c0002t0226g0284 |
3 | 406 | 0.0074 | -45 | c.*85 others(56): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 168 | chr5 | TogoVar | |||||||
CCDC170_chr6_151489017_151626193 | 151504401 | GTAATTGG others(38): Show |
G | intron_variant | MODIFIER | HG02965.hp2 HG03195.hp1 HG03453.hp1 others(2): Show |
a0002a0006a0028 | a0002c0021a0006c0010a0028c0030 | a0002c0021t0004a0006c0010t0044a0006c0010t0046others(1): Show | a0002c0021t0004g0194 a0002c0021t0004g0195 a0006c0010t0044g0201 others(2): Show |
5 | 320 | 0.0156 | -45 | c.57+ others(62): Show |
CCDC170 | ENSG00000120262.10 | transcript | ENST00000239374.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC170_chr6_151489017_151626193 | 151531225 | GAGATTGA others(38): Show |
G | intron_variant | MODIFIER | NA19076.hp1 | a0027 | a0027c0028 | a0027c0028t0055 | a0027c0028t0055g0286 | 1 | 320 | 0.0031 | -45 | c.58- others(60): Show |
CCDC170 | ENSG00000120262.10 | transcript | ENST00000239374.8 | protein_coding | 1/10 | chr6 | TogoVar |