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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPED1_chr7_120983711_121302442 | 121074509 | G | GTTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0006a0001c0007t0006others(1): Show | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0006g0048 others(3): Show |
6 | 29 | 0.2069 | 7 | c.616 others(26): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121117099 | A | ATATATAT | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0075 a0002c0002t0004g0131 |
2 | 138 | 0.0145 | 7 | c.919 others(24): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 7/22 | chr7 | TogoVar | |||||||
CPED1_chr7_120983711_121302442 | 121130721 | C | CCATTGCT | intron_variant | MODIFIER | HG01884.hp1 HG01928.hp2 HG01975.hp2 others(12): Show |
a0001a0003a0004 | a0001c0003a0003c0005a0004c0009 | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(4): Show | a0001c0003t0001g0082 a0001c0003t0003g0004 a0001c0003t0003g0011 others(12): Show |
15 | 138 | 0.1087 | 7 | c.157 others(24): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121279472 | A | ACAATAAG | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01257.hp1 others(22): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0118 others(22): Show |
25 | 138 | 0.1812 | 7 | c.286 others(26): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 22/22 | chr7 | TogoVar | |||||||
CPED1_chr7_120983711_121302442 | 121279473 | G | GAATAAGA | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01070.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0083 others(34): Show |
37 | 113 | 0.3274 | 7 | c.286 others(26): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165424879 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(83): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0041 others(83): Show |
86 | 308 | 0.2792 | 7 | c.308 others(26): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165459686 | G | GGGGGGGT | intron_variant | MODIFIER | HG00621.hp1 HG01071.hp2 HG01346.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0080 a0001c0001t0001g0202 others(15): Show |
18 | 278 | 0.0647 | 7 | c.308 others(24): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPHXL_chr16_75709131_75731490 | 75725753 | C | CTTTTTTT | intron_variant | MODIFIER | HG01257.hp2 HG02109.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0023 a0001c0001t0001g0086 a0001c0001t0001g0119 others(3): Show |
8 | 84 | 0.0952 | 7 | c.25+ others(20): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CPLANE1_chr5_37101235_37254376 | 37187060 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp1 HG02647.hp1 others(4): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0013t0001 | a0003c0004t0001g0053 a0003c0004t0001g0055 a0003c0004t0001g0060 others(4): Show |
7 | 75 | 0.0933 | 7 | c.408 others(24): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 23/52 | chr5 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 791183 | G | GGCGGGGA | intron_variant | MODIFIER | HG00423.hp1 HG01167.hp1 HG01433.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0017others(3): Show | a0001c0001t0002g0016 a0001c0001t0002g0054 a0001c0001t0002g0130 others(29): Show |
34 | 414 | 0.0821 | 7 | c.207 others(24): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 3/3 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826313 | C | CGGGGGCG | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02109.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0009 a0001c0001t0004g0080 a0001c0001t0004g0134 others(16): Show |
20 | 214 | 0.0935 | 7 | c.-34 others(16): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 185 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826466 | C | CGGGGCGG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG02735.hp1 HG04115.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0006g0069 others(3): Show |
6 | 167 | 0.0359 | 7 | c.-50 others(16): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 338 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826471 | C | CGGGGGCG | upstream_gene_variant | MODIFIER | HG01928.hp1 HG01981.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0104 a0001c0001t0001g0245 a0001c0001t0003g0286 others(1): Show |
4 | 410 | 0.0098 | 7 | c.-50 others(16): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 343 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 829221 | C | CCAGACAG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(213): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0138 others(199): Show |
216 | 414 | 0.5217 | 7 | c.-32 others(18): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 3093 | chr4 | TogoVar | |||||||
CPLX4_chr18_59290402_59323649 | 59307753 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0179 others(45): Show |
63 | 194 | 0.3247 | 7 | c.255 others(24): Show |
CPLX4 | ENSG00000166569.8 | transcript | ENST00000299721.3 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
CPM_chr12_68846175_68938171 | 68847187 | G | GTACATTA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG03130.hp1 NA19001.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0049a0002c0003t0025 | a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0049g0072 others(1): Show |
4 | 334 | 0.0120 | 7 | c.*92 others(18): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 3987 | chr12 | TogoVar | |||||||
CPM_chr12_68846175_68938171 | 68847452 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00639.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0049others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0076 a0001c0001t0001g0082 others(55): Show |
58 | 123 | 0.4715 | 7 | c.*89 others(18): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 3722 | chr12 | TogoVar | |||||||
CPNE1_chr20_35621044_35669900 | 35627187 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0120 a0003c0003t0001g0004 a0003c0003t0001g0054 others(5): Show |
11 | 142 | 0.0775 | 7 | c.123 others(22): Show |
CPNE1 | ENSG00000214078.13 | transcript | ENST00000397443.7 | protein_coding | 14/15 | chr20 | TogoVar | |||||||
CPNE2_chr16_57087583_57153369 | 57087922 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0002t0001a0003c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 others(19): Show |
23 | 109 | 0.2110 | 7 | c.-49 others(18): Show |
CPNE2 | ENSG00000140848.17 | transcript | ENST00000290776.13 | protein_coding | 4660 | chr16 | TogoVar | |||||||
CPNE2_chr16_57087583_57153369 | 57114934 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0055 others(16): Show |
22 | 132 | 0.1667 | 7 | c.361 others(22): Show |
CPNE2 | ENSG00000140848.17 | transcript | ENST00000290776.13 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE3_chr8_86509435_86566498 | 86522516 | G | GGATTTAC | intron_variant | MODIFIER | HG03516.hp2 NA18906.hp2 NA21309.hp1 |
a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0279 a0005c0007t0010g0280 a0005c0007t0010g0281 |
3 | 338 | 0.0089 | 7 | c.-10 others(24): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131717867 | T | TCCCTCCC | intron_variant | MODIFIER | HG02257.hp1 HG02615.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0038 a0001c0001t0002g0070 a0001c0001t0003g0023 others(3): Show |
6 | 76 | 0.0789 | 7 | c.360 others(24): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 3/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131876653 | A | AAAAAAAG | intron_variant | MODIFIER | HG01169.hp2 HG01884.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0029 others(9): Show |
12 | 88 | 0.1364 | 7 | c.180 others(26): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131923704 | C | CAAAAAAA | intron_variant | MODIFIER | HG01496.hp1 NA18939.hp1 NA18960.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001a0001c0002t0014 | a0001c0001t0007g0002 a0001c0002t0001g0016 a0001c0002t0001g0017 others(1): Show |
4 | 47 | 0.0851 | 7 | c.-1- others(24): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131953238 | T | TAAAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01069.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0026 others(28): Show |
31 | 85 | 0.3647 | 7 | c.-1- others(24): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131955410 | G | GTTTTTTT | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004a0001c0006 | a0001c0003t0001a0001c0003t0002a0001c0004t0001others(1): Show | a0001c0003t0001g0037 a0001c0003t0002g0071 a0001c0004t0001g0035 others(2): Show |
5 | 39 | 0.1282 | 7 | c.-1- others(24): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131978092 | T | TATATAAA | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02486.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 others(13): Show |
16 | 87 | 0.1839 | 7 | c.-2+ others(24): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131978148 | A | ATTTATAT | intron_variant | MODIFIER | HG02896.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 a0001c0001t0002g0090 |
2 | 87 | 0.0230 | 7 | c.-2+ others(24): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131978200 | A | ATATATAT | intron_variant | MODIFIER | HG02647.hp1 HG03041.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0030 a0001c0003t0003g0031 |
2 | 82 | 0.0244 | 7 | c.-2+ others(24): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131993472 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG02602.hp1 HG03239.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0054 a0001c0001t0002g0079 a0001c0001t0002g0083 others(3): Show |
6 | 27 | 0.2222 | 7 | c.-2+ others(24): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 132001549 | A | AGAGAAAG | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0090 a0001c0002t0001g0013 |
2 | 82 | 0.0244 | 7 | c.-2+ others(24): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 132027697 | C | CTTTTCCA | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 others(56): Show |
59 | 92 | 0.6413 | 7 | c.-2+ others(22): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE5_chr6_36735775_36844444 | 36834254 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0002t0001g0070 others(4): Show |
7 | 87 | 0.0805 | 7 | c.95+ others(22): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587275 | C | CCCCTCCA | intron_variant | MODIFIER | HG02615.hp2 HG03041.hp1 HG03139.hp1 others(1): Show |
a0001a0007 | a0001c0002a0001c0008a0007c0026 | a0001c0002t0001a0001c0002t0004a0001c0008t0001others(1): Show | a0001c0002t0001g0314 a0001c0002t0004g0264 a0001c0008t0001g0009 others(1): Show |
4 | 346 | 0.0116 | 7 | c.927 others(22): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE8_chr12_38647203_38910591 | 38710268 | C | CAAAAAAA | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp2 HG01943.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0010 | a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0144 others(8): Show |
11 | 13 | 0.8462 | 7 | c.915 others(24): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 13/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38736234 | T | TGTGTGTG | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0024 a0001c0001t0002g0019 a0001c0002t0002g0050 others(4): Show |
7 | 118 | 0.0593 | 7 | c.723 others(24): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPNE8_chr12_38647203_38910591 | 38756039 | C | CAAAAAAA | intron_variant | MODIFIER | HG02071.hp2 HG03139.hp1 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0158 a0001c0001t0005g0115 others(3): Show |
6 | 124 | 0.0484 | 7 | c.722 others(24): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 10/19 | chr12 | TogoVar | |||||||
CPO_chr2_206934518_206974474 | 206943710 | A | AGATGATG | intron_variant | MODIFIER | NA18940.hp2 NA18941.hp1 NA18992.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0141 a0001c0001t0001g0142 others(1): Show |
4 | 416 | 0.0096 | 7 | c.68+ others(22): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96663319 | T | TACATGAC | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01081.hp2 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 others(73): Show |
76 | 124 | 0.6129 | 7 | c.-35 others(26): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96787525 | C | CTTTTTTT | intron_variant | MODIFIER | HG02040.hp2 HG02622.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0126 others(1): Show |
4 | 33 | 0.1212 | 7 | c.433 others(24): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 97023057 | A | ATATACTG | intron_variant | MODIFIER | NA18522.hp2 NA19030.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0107 a0001c0004t0001g0114 |
2 | 124 | 0.0161 | 7 | c.962 others(24): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPS1_chr2_210551599_210684107 | 210683081 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(134): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0029others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(131): Show |
137 | 321 | 0.4268 | 7 | c.*50 others(18): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3975 | chr2 | TogoVar | |||||||
CPSF1_chr8_144388231_144414335 | 144392939 | C | CACCTGTG | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02630.hp1 others(15): Show |
a0001 | a0001c0001a0001c0033 | a0001c0001t0001a0001c0033t0001 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0030 others(7): Show |
18 | 348 | 0.0517 | 7 | c.*37 others(16): Show |
CPSF1 | ENSG00000071894.17 | transcript | ENST00000616140.2 | protein_coding | 291 | chr8 | TogoVar | |||||||
CPSF1_chr8_144388231_144414335 | 144398491 | C | CCCCAGGT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(143): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0003a0001c0006others(13): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(13): Show | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0010 others(58): Show |
146 | 345 | 0.4232 | 7 | c.175 others(22): Show |
CPSF1 | ENSG00000071894.17 | transcript | ENST00000616140.2 | protein_coding | 18/37 | chr8 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92168248 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0113a0001c0001t0117others(3): Show | a0001c0001t0042g0244 a0001c0001t0042g0250 a0001c0001t0113g0245 others(4): Show |
7 | 85 | 0.0824 | 7 | c.*65 others(18): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 16/16 | 6523 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CPSF3_chr2_9418654_9478101 | 9444159 | T | TATATATA | intron_variant | MODIFIER | HG03831.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0042 |
2 | 226 | 0.0088 | 7 | c.124 others(24): Show |
CPSF3 | ENSG00000119203.14 | transcript | ENST00000238112.8 | protein_coding | 10/17 | chr2 | TogoVar | |||||||
CPSF4L_chr17_73243449_73266880 | 73252114 | A | AAGGGATG | intron_variant | MODIFIER | HG00558.hp1 HG03942.hp2 NA18973.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0037 a0001c0001t0002g0109 others(2): Show |
9 | 396 | 0.0227 | 7 | c.497 others(22): Show |
CPSF4L | ENSG00000187959.9 | transcript | ENST00000344935.8 | protein_coding | 5/5 | chr17 | TogoVar | |||||||
CPSF6_chr12_69234569_69279358 | 69236479 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02129.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(4): Show | a0001c0001t0003g0002 a0001c0001t0005g0005 a0001c0001t0014g0207 others(6): Show |
11 | 390 | 0.0282 | 7 | c.-31 others(18): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3089 | chr12 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68768066 | C | CTTTTTTT | intron_variant | MODIFIER | HG02015.hp2 HG02258.hp2 HG02280.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0181 a0001c0001t0002g0006 a0001c0001t0003g0135 others(12): Show |
15 | 25 | 0.6000 | 7 | c.174 others(26): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 14/18 | chr11 | TogoVar | |||||||
CPT1C_chr19_49686116_49718731 | 49702075 | T | TATTTATA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG00741.hp2 others(17): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0002c0005others(1): Show | a0001c0002t0002a0001c0004t0002a0002c0005t0002others(1): Show | a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0190 others(16): Show |
20 | 341 | 0.0587 | 7 | c.693 others(22): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | chr19 | TogoVar |