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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPA6_chr8_67417038_67751360 | 67634179 | AATTATTA others(11): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0031 | 1 | 51 | 0.0196 | -18 | c.117 others(35): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67713095 | GTGTGTAT others(11): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG02135.hp1 NA18962.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 others(2): Show |
5 | 118 | 0.0424 | -18 | c.116 others(37): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67740388 | CACAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 142 | 0.0070 | -18 | c.116 others(35): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16906348 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG03486.hp2 |
a0018a0024 | a0018c0143a0024c0011 | a0018c0143t0001a0024c0011t0001 | a0018c0143t0001g0012 a0024c0011t0001g0018 a0024c0011t0001g0021 |
3 | 270 | 0.0111 | -18 | c.402 others(35): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | |||||||
CPD_chr17_30373927_30474989 | 30376579 | GCTGTAGG others(11): Show |
G | upstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0138 | 1 | 294 | 0.0034 | -18 | c.-24 others(29): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 2347 | chr17 | TogoVar | |||||||
CPD_chr17_30373927_30474989 | 30470236 | CACGTGTA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0021 a0001c0001t0009g0022 a0001c0001t0009g0023 others(1): Show |
4 | 294 | 0.0136 | -18 | c.*54 others(29): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 248 | chr17 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82579918 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0279 a0001c0001t0004g0124 |
2 | 14 | 0.1429 | -18 | c.272 others(35): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82598239 | GCTGAGGT others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(237): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(40): Show | a0001c0001t0001g0318 a0001c0001t0001g0328 a0001c0001t0004g0088 others(234): Show |
240 | 352 | 0.6818 | -18 | c.272 others(37): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92190665 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00642.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0108 a0001c0001t0002g0125 a0001c0001t0002g0127 others(26): Show |
29 | 58 | 0.5000 | -18 | c.116 others(37): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92258625 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03471.hp2 HG04115.hp2 others(1): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0003t0023a0001c0009t0034 | a0001c0003t0001g0145 a0001c0003t0001g0190 a0001c0003t0023g0226 others(1): Show |
4 | 182 | 0.0220 | -18 | c.-11 others(37): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPEB4_chr5_173883349_173966980 | 173905001 | TAATAATA others(11): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0223 | 1 | 370 | 0.0027 | -18 | c.112 others(37): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121047646 | TTTCTTCT others(11): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014 | 1 | 20 | 0.0500 | -18 | c.540 others(33): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121129295 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 137 | 0.0073 | -18 | c.140 others(35): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121189760 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0007a0001c0003t0009 | a0001c0003t0003g0011 a0001c0003t0003g0025 a0001c0003t0003g0026 others(3): Show |
6 | 68 | 0.0882 | -18 | c.205 others(39): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPLANE1_chr5_37101235_37254376 | 37245297 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 HG02896.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0003 | a0001c0001t0001a0001c0011t0004a0004c0003t0001 | a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0179 others(6): Show |
9 | 16 | 0.5625 | -18 | c.337 others(33): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 4/52 | chr5 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 822080 | ACTGTCTC others(11): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 others(2): Show |
5 | 414 | 0.0121 | -18 | c.31+ others(33): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826244 | GCGGGGGC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0001g0384 others(45): Show |
49 | 414 | 0.1184 | -18 | c.-29 others(27): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 116 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826317 | GCGGGGGC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 339 | 0.0029 | -18 | c.-36 others(27): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 189 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826429 | GGGGGCGG others(11): Show |
G | upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0085 | 1 | 413 | 0.0024 | -18 | c.-48 others(27): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 301 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826470 | GCGGGGGC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0009 a0001c0001t0004g0133 a0001c0001t0004g0134 others(1): Show |
5 | 414 | 0.0121 | -18 | c.-52 others(27): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 342 | chr4 | TogoVar | |||||||
CPLX4_chr18_59290402_59323649 | 59310947 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01175.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 a0001c0001t0007g0127 a0001c0001t0007g0128 others(2): Show |
8 | 95 | 0.0842 | -18 | c.255 others(35): Show |
CPLX4 | ENSG00000166569.8 | transcript | ENST00000299721.3 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
CPM_chr12_68846175_68938171 | 68923158 | AGAGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG02976.hp2 others(1): Show |
a0002 | a0002c0003a0002c0009a0002c0010 | a0002c0003t0006a0002c0003t0048a0002c0009t0037others(1): Show | a0002c0003t0006g0027 a0002c0003t0048g0024 a0002c0009t0037g0023 others(1): Show |
4 | 132 | 0.0303 | -18 | c.160 others(35): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
CPN2_chr3_194334768_194356328 | 194349778 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(51): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0005others(6): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0009others(11): Show | a0001c0002t0003g0004 a0001c0002t0003g0013 a0001c0002t0003g0034 others(20): Show |
54 | 109 | 0.4954 | -18 | c.-4+ others(33): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131547484 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02683.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0002g0083 a0001c0002t0001g0033 a0001c0002t0003g0063 others(2): Show |
5 | 92 | 0.0543 | -18 | c.130 others(37): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 14/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131580388 | CTATACAT others(11): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01496.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0044 a0001c0001t0001g0060 others(5): Show |
8 | 30 | 0.2667 | -18 | c.867 others(35): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 9/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131615911 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03209.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0001 | a0001c0001t0001g0054 a0001c0001t0013g0040 a0001c0002t0001g0033 |
3 | 92 | 0.0326 | -18 | c.682 others(37): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 7/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131708957 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | NA18962.hp1 NA18966.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0073 a0001c0002t0001g0025 |
2 | 12 | 0.1667 | -18 | c.361 others(35): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 3/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131799907 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 90 | 0.0111 | -18 | c.181 others(37): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131814572 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02602.hp1 HG02735.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0002g0079 others(5): Show |
8 | 17 | 0.4706 | -18 | c.180 others(37): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131942463 | TGAGAGAG others(11): Show |
T | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0064 | 1 | 31 | 0.0323 | -18 | c.-1- others(35): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 132005332 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 91 | 0.0110 | -18 | c.-2+ others(35): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 132005336 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 91 | 0.0110 | -18 | c.-2+ others(35): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 132005342 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0052 a0001c0004t0001g0051 |
2 | 43 | 0.0465 | -18 | c.-2+ others(35): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89571126 | CGGGCACG others(11): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0170 a0001c0002t0004g0317 |
2 | 344 | 0.0058 | -18 | c.-47 others(29): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 4631 | chr16 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89597158 | TGGGGTCT others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp2 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0002c0017others(2): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0010others(5): Show | a0001c0002t0003g0022 a0001c0002t0003g0035 a0001c0002t0003g0037 others(59): Show |
65 | 333 | 0.1952 | -18 | c.*54 others(27): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 15/15 | 547 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE8_chr12_38647203_38910591 | 38662871 | CAAGAACA others(11): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 |
2 | 340 | 0.0059 | -18 | c.150 others(37): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 19/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38894658 | ACTCTCTC others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0002g0019 others(69): Show |
72 | 93 | 0.7742 | -18 | c.98+ others(35): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12729338 | AGACGTTT others(11): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 288 | 0.0035 | -18 | c.290 others(37): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96717024 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01255.hp2 HG01975.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0009 | a0001c0001t0001a0001c0002t0001a0005c0009t0001 | a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0080 others(3): Show |
6 | 21 | 0.2857 | -18 | c.-34 others(37): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96777748 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 123 | 0.0081 | -18 | c.-34 others(35): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96880518 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0043 | 1 | 8 | 0.1250 | -18 | c.849 others(33): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96991553 | CATAATAA others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02004.hp1 HG02280.hp1 others(20): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0030 others(20): Show |
23 | 41 | 0.5610 | -18 | c.961 others(37): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPS1_chr2_210551599_210684107 | 210571855 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(60): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 others(60): Show |
63 | 101 | 0.6238 | -18 | c.127 others(35): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF3_chr2_9418654_9478101 | 9466249 | CGCACACA others(11): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 228 | 0.0044 | -18 | c.178 others(37): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 15/17 | chr2 | TogoVar | |||||||
CPSF3_chr2_9418654_9478101 | 9466408 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG03195.hp1 HG03540.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0211 a0001c0004t0001g0212 |
2 | 224 | 0.0089 | -18 | c.178 others(37): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99446771 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01255.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 a0001c0002t0001g0146 |
3 | 98 | 0.0306 | -18 | c.155 others(35): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPT2_chr1_53191824_53219197 | 53192639 | CTGTGTGT others(11): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0061 | 1 | 12 | 0.0833 | -18 | c.-43 others(29): Show |
CPT2 | ENSG00000157184.7 | transcript | ENST00000371486.4 | protein_coding | 4184 | chr1 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29003173 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 280 | 0.0036 | -18 | c.132 others(37): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29069770 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01071.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0069 others(18): Show |
21 | 40 | 0.5250 | -18 | c.864 others(35): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29123597 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 161 | 0.0062 | -18 | c.-10 others(35): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 1/12 | chr7 | TogoVar |