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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP89_chr19_32870925_32976958 | 32944220 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03453.hp2 NA19043.hp1 |
a0007 | a0007c0009 | a0007c0009t0011 | a0007c0009t0011g0123 a0007c0009t0011g0124 a0007c0009t0011g0125 |
3 | 386 | 0.0078 | 20 | c.595 others(37): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
CER1_chr9_14714724_14727733 | 14719561 | G | GCATTCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0007 | 2 | 460 | 0.0044 | 20 | c.*52 others(29): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 162 | chr9 | TogoVar | |||||||
CER1_chr9_14714724_14727733 | 14719561 | G | GCCTGCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 460 | 0.0022 | 20 | c.*52 others(29): Show |
CER1 | ENSG00000147869.5 | transcript | ENST00000380911.4 | protein_coding | 162 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128416841 | C | CTTTGTTT others(13): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 400 | 0.0025 | 20 | c.-40 others(31): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 4015 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437809 | A | ATATATAC others(13): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01884.hp1 others(12): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0013 | a0001c0002t0001a0001c0003t0001a0004c0013t0001 | a0001c0002t0001g0043 a0001c0002t0001g0052 a0001c0003t0001g0044 others(10): Show |
15 | 400 | 0.0375 | 20 | c.*96 others(29): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 463 | chr9 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181599535 | T | TCAAAACA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01070.hp2 HG01071.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0004 a0002c0003t0004g0101 |
3 | 298 | 0.0101 | 20 | c.481 others(37): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181606232 | G | GGAAGGGA others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01168.hp1 HG01496.hp2 others(35): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(11): Show | a0001c0001t0001g0171 a0001c0001t0001g0210 a0001c0001t0003g0187 others(34): Show |
38 | 298 | 0.1275 | 20 | c.239 others(37): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181650111 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 298 | 0.0034 | 20 | c.238 others(37): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46680586 | C | CCATCCAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0025 | a0001c0025t0023 | a0001c0025t0023g0093 | 1 | 340 | 0.0029 | 20 | c.*65 others(31): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3823 | chr22 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46691056 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02922.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0034a0001c0004t0020a0001c0008t0020 | a0001c0001t0034g0307 a0001c0004t0020g0042 a0001c0008t0020g0158 |
3 | 340 | 0.0088 | 20 | c.133 others(37): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 11/12 | chr22 | TogoVar | |||||||
CERS1_chr19_18863545_18901158 | 18863713 | A | AGGGCTCT others(13): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01168.hp2 others(21): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0003t0003 | a0001c0002t0001g0238 a0001c0002t0001g0310 a0001c0002t0003g0006 others(16): Show |
24 | 380 | 0.0632 | 20 | c.*62 others(31): Show |
CERS1 | ENSG00000223802.9 | transcript | ENST00000623882.4 | protein_coding | 4831 | chr19 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466812 | C | CCTCCCTC others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0125 a0001c0001t0001g0255 a0001c0001t0001g0256 others(3): Show |
6 | 362 | 0.0166 | 20 | c.845 others(37): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100467842 | T | TATAGATA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 362 | 0.0028 | 20 | c.845 others(37): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100467850 | T | TATAGATA others(13): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 362 | 0.0028 | 20 | c.845 others(37): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100494210 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 362 | 0.0028 | 20 | c.174 others(37): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 3/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100526478 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01069.hp1 others(14): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(5): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(14): Show |
17 | 362 | 0.0470 | 20 | c.-92 others(37): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8240585 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG02055.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0139 a0001c0001t0002g0140 others(13): Show |
16 | 418 | 0.0383 | 20 | c.-1- others(37): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245118 | A | AAAAACAA others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0001 | a0001c0001t0003g0115 a0002c0003t0001g0392 |
2 | 418 | 0.0048 | 20 | c.-1- others(35): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245122 | A | AACAAACA others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 NA20805.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0003c0004t0004 | a0001c0001t0003g0083 a0003c0004t0004g0252 |
2 | 418 | 0.0048 | 20 | c.-1- others(35): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8266863 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 a0001c0001t0003g0397 |
2 | 418 | 0.0048 | 20 | c.*47 others(31): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4443 | chr19 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8267294 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 NA18957.hp1 NA18973.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0001 | a0001c0001t0002g0146 a0001c0001t0002g0316 a0001c0001t0002g0329 others(2): Show |
5 | 418 | 0.0120 | 20 | c.*51 others(31): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 4874 | chr19 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148919 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0223 | 1 | 320 | 0.0031 | 20 | c.198 others(37): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50148925 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0304 | 1 | 320 | 0.0031 | 20 | c.198 others(37): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50156420 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0203 a0001c0001t0004g0083 a0001c0001t0004g0173 others(4): Show |
7 | 320 | 0.0219 | 20 | c.197 others(39): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168520598 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0066 | 1 | 176 | 0.0057 | 20 | c.171 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168559733 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG01978.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0055 a0001c0001t0001g0101 a0001c0001t0002g0061 others(12): Show |
15 | 176 | 0.0852 | 20 | c.277 others(37): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168620062 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 176 | 0.0057 | 20 | c.408 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168746820 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0059 | 1 | 176 | 0.0057 | 20 | c.846 others(39): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168760738 | G | GTTTGTTT others(13): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0126 a0001c0001t0013g0174 |
2 | 176 | 0.0114 | 20 | c.846 others(37): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01243.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0316 others(20): Show |
23 | 336 | 0.0685 | 20 | c.118 others(39): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75447445 | A | AATTTATT others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03688.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0001 | a0001c0001t0013g0258 a0001c0002t0001g0098 |
2 | 336 | 0.0060 | 20 | c.348 others(39): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55830773 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 87 | 0.0115 | 20 | c.53- others(35): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55830803 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03209.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002 | 2 | 87 | 0.0230 | 20 | c.53- others(35): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55830819 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 87 | 0.0115 | 20 | c.53- others(35): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55835677 | G | GAGAGAGG others(13): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0079 | 1 | 87 | 0.0115 | 20 | c.-26 others(31): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2582 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55835677 | G | GAGGAAGG others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0015 others(21): Show |
25 | 87 | 0.2874 | 20 | c.-26 others(31): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2582 | chr16 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55837579 | T | TTAACTAC others(13): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 87 | 0.0115 | 20 | c.-45 others(31): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4484 | chr16 | TogoVar | |||||||
CES5A_chr16_55841154_55880373 | 55866658 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG02071.hp2 others(1): Show |
a0003a0023 | a0003c0004a0003c0053a0023c0050 | a0003c0004t0004a0003c0053t0006a0023c0050t0002 | a0003c0004t0004g0095 a0003c0004t0004g0125 a0003c0053t0006g0164 others(1): Show |
4 | 449 | 0.0089 | 20 | c.552 others(35): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 576446 | G | GAGGAAGG others(13): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 HG03942.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0012 | a0001c0001t0002g0000 a0002c0002t0012g0000 |
2 | 422 | 0.0047 | 20 | c.-39 others(31): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3933 | chr18 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56959989 | A | AAGAAAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01261.hp2 NA18947.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0074 others(3): Show |
7 | 462 | 0.0152 | 20 | c.-19 others(31): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 1960 | chr16 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56959997 | A | AAGAAAGA others(13): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 462 | 0.0022 | 20 | c.-19 others(31): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 1952 | chr16 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58801050 | T | TGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0003 |
2 | 204 | 0.0098 | 20 | c.223 others(39): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58990754 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0159 | 1 | 204 | 0.0049 | 20 | c.278 others(39): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58995975 | A | AATCTATC others(13): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18953.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0076 a0001c0002t0002g0027 |
2 | 204 | 0.0098 | 20 | c.278 others(39): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 390 | 0.0026 | 20 | c.959 others(37): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0011 | a0011c0015 | a0011c0015t0003 | a0011c0015t0003g0093 | 1 | 390 | 0.0026 | 20 | c.959 others(37): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653029 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 a0001c0001t0003g0123 |
2 | 390 | 0.0051 | 20 | c.959 others(37): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP221_chr2_119539449_119661661 | 119628294 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01496.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138 a0001c0001t0001g0167 a0001c0001t0002g0170 |
3 | 226 | 0.0133 | 20 | c.165 others(37): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121928670 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0291 | 1 | 354 | 0.0028 | 20 | c.748 others(37): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121966151 | C | CCCCTCCC others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(119): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0007a0002c0001others(7): Show | a0001c0003t0001a0001c0007t0001a0002c0001t0001others(7): Show | a0001c0003t0001g0264 a0001c0003t0001g0330 a0001c0003t0001g0331 others(118): Show |
122 | 354 | 0.3446 | 20 | c.249 others(37): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |