| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CORO2B_chr15_68573993_68732806 | 68708357 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 | 1 | 256 | 0.0039 | -16 | c.334 others(33): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CORT_chr1_10445031_10456998 | 10456414 | AAGATGCA others(9): Show |
A | downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 428 | 0.0023 | -16 | c.*48 others(27): Show |
CORT | ENSG00000241563.4 | transcript | ENST00000377049.4 | protein_coding | 4417 | chr1 | TogoVar | ||||||
| COTL1_chr16_84560596_84623078 | 84581975 | CTTCTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0050a0001c0001t0001g0168a0001c0001t0002g0143others(83): Show | 86 | 440 | 0.1955 | -16 | c.318 others(33): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
| COTL1_chr16_84560596_84623078 | 84591634 | TAAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(133): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0029others(131): Show | 136 | 440 | 0.3091 | -16 | c.161 others(33): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
| COX10_chr17_14064504_14213677 | 14151526 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0056 | 1 | 322 | 0.0031 | -16 | c.625 others(33): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| COX10_chr17_14064504_14213677 | 14182259 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG01070.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0002c0002others(6): Show | a0001c0003t0001a0001c0003t0005a0001c0004t0001others(13): Show | a0001c0003t0001g0032a0001c0003t0001g0079a0001c0003t0001g0080others(41): Show | 44 | 322 | 0.1367 | -16 | c.696 others(33): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| COX16_chr14_70320081_70364683 | 70357158 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009a0001c0001t0003g0043a0001c0001t0003g0240others(3): Show | 10 | 376 | 0.0266 | -16 | c.69+ others(31): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
| COX17_chr3_119664532_119682406 | 119667716 | CACACACA others(9): Show |
C | downstream_gene_variant | MODIFIER | NA18969.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 420 | 0.0048 | -16 | c.*19 others(27): Show |
COX17 | ENSG00000138495.7 | transcript | ENST00000261070.7 | protein_coding | 1815 | chr3 | TogoVar | ||||||
| COX20_chr1_244830658_244850057 | 244831636 | TTTGGTTT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01516.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 4 | 298 | 0.0134 | -16 | c.-40 others(27): Show |
COX20 | ENSG00000203667.10 | transcript | ENST00000411948.7 | protein_coding | 4021 | chr1 | TogoVar | ||||||
| COX5A_chr15_74914791_74943073 | 74933419 | ATATCTAT others(9): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01256.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0039a0001c0001t0001g0040others(31): Show | 44 | 428 | 0.1028 | -16 | c.101 others(33): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
| COX6A1_chr12_120433113_120445730 | 120441968 | ATTATTAT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011 | 6 | 426 | 0.0141 | -16 | c.*14 others(27): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 1239 | chr12 | TogoVar | ||||||
| COX6A1_chr12_120433113_120445730 | 120441971 | ATTATTAT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0027 | 6 | 426 | 0.0141 | -16 | c.*14 others(27): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 1242 | chr12 | TogoVar | ||||||
| COX6A2_chr16_31422731_31433360 | 31426579 | AGTGTGTG others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02559.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0027others(6): Show | 18 | 412 | 0.0437 | -16 | c.*11 others(27): Show |
COX6A2 | ENSG00000156885.6 | transcript | ENST00000287490.5 | protein_coding | 1151 | chr16 | TogoVar | ||||||
| COX7B2_chr4_46729827_46914245 | 46797092 | TAAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 300 | 0.0033 | -16 | c.-50 others(35): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
| COX7B2_chr4_46729827_46914245 | 46837274 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222a0001c0001t0001g0226 | 2 | 300 | 0.0067 | -16 | c.-50 others(33): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
| CPA1_chr7_130375494_130393108 | 130392347 | GACACACA others(9): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02165.hp2 NA18969.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0012a0001c0001t0004g0012a0001c0001t0004g0052 | 6 | 434 | 0.0138 | -16 | c.*43 others(27): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 4240 | chr7 | TogoVar | ||||||
| CPA2_chr7_130261863_130294798 | 130267773 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0253 | 2 | 400 | 0.0050 | -16 | c.71+ others(29): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CPA5_chr7_130339816_130373730 | 130357952 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0133 | 1 | 412 | 0.0024 | -16 | c.334 others(33): Show |
CPA5 | ENSG00000158525.16 | transcript | ENST00000474905.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CPA6_chr8_67417038_67751360 | 67447532 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 144 | 0.0069 | -16 | c.839 others(35): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67475870 | TCTTTCTT others(9): Show |
T | intron_variant | MODIFIER | HG03453.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0106 | 2 | 144 | 0.0139 | -16 | c.838 others(33): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67475871 | CTTTCTTT others(9): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0006 | 1 | 144 | 0.0069 | -16 | c.838 others(33): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67607151 | CTCCTCTT others(9): Show |
C | intron_variant | MODIFIER | NA18981.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0117 | 1 | 144 | 0.0069 | -16 | c.192 others(35): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67616501 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03491.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0128a0001c0001t0001g0129a0002c0002t0001g0061 | 3 | 144 | 0.0208 | -16 | c.192 others(33): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67713095 | GTGTGTAT others(9): Show |
G | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 144 | 0.0069 | -16 | c.116 others(35): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16906337 | CCTTTCTT others(9): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG02293.hp1 others(6): Show |
a0002a0003a0006others(4): Show | a0002c0059a0002c0176a0003c0002others(5): Show | a0002c0059t0001a0002c0176t0001a0003c0002t0002others(5): Show | a0002c0059t0001g0044a0002c0176t0001g0014a0003c0002t0002g0252others(6): Show | 9 | 278 | 0.0324 | -16 | c.402 others(33): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16906395 | TTTCTTTC others(9): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01257.hp2 HG01258.hp2 others(4): Show |
a0008a0010a0037others(4): Show | a0008c0009a0010c0004a0037c0104others(4): Show | a0008c0009t0001a0010c0004t0001a0037c0104t0001others(4): Show | a0008c0009t0001g0217a0010c0004t0001g0243a0037c0104t0001g0150others(4): Show | 7 | 278 | 0.0252 | -16 | c.402 others(33): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16939149 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0016 | a0016c0117 | a0016c0117t0001 | a0016c0117t0001g0114 | 1 | 278 | 0.0036 | -16 | c.279 others(33): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 22/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16939179 | TTATTTAT others(9): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01934.hp2 others(8): Show |
a0002a0005a0013others(7): Show | a0002c0062a0005c0131a0013c0078others(7): Show | a0002c0062t0002a0005c0131t0002a0013c0078t0002others(7): Show | a0002c0062t0002g0176a0005c0131t0002g0063a0013c0078t0002g0171others(8): Show | 11 | 278 | 0.0396 | -16 | c.279 others(33): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 22/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16978989 | TATCCATC others(9): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02818.hp2 others(1): Show |
a0023a0029a0114 | a0023c0031a0029c0067a0114c0113 | a0023c0031t0001a0029c0067t0001a0114c0113t0001 | a0023c0031t0001g0025a0023c0031t0001g0026a0029c0067t0001g0004others(1): Show | 4 | 278 | 0.0144 | -16 | c.158 others(35): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 14/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 17031553 | CGTGTGTG others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 |
a0013a0014 | a0013c0078a0014c0027 | a0013c0078t0002a0014c0027t0001 | a0013c0078t0002g0171a0014c0027t0001g0175 | 2 | 278 | 0.0072 | -16 | c.-49 others(27): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 4744 | chr19 | TogoVar | ||||||
| CPB1_chr3_148822811_148865187 | 148846797 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 456 | 0.0022 | -16 | c.981 others(33): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CPEB3_chr10_92041692_92296078 | 92071070 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0011a0001c0004t0033 | a0001c0004t0011g0252a0001c0004t0011g0264a0001c0004t0033g0269 | 3 | 278 | 0.0108 | -16 | c.186 others(37): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 9/9 | chr10 | TogoVar | ||||||
| CPEB3_chr10_92041692_92296078 | 92190665 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03471.hp2 NA18939.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0001t0010a0001c0002t0002others(2): Show | a0001c0001t0007g0208a0001c0001t0010g0118a0001c0002t0002g0018others(2): Show | 5 | 278 | 0.0180 | -16 | c.116 others(35): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
| CPEB3_chr10_92041692_92296078 | 92191379 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 278 | 0.0036 | -16 | c.116 others(35): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
| CPEB4_chr5_173883349_173966980 | 173892997 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0294 | 1 | 372 | 0.0027 | -16 | c.112 others(35): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CPEB4_chr5_173883349_173966980 | 173964524 | GGGGTGGG others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011a0001c0001t0003g0051 | 3 | 372 | 0.0081 | -16 | c.*83 others(27): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 2545 | chr5 | TogoVar | ||||||
| CPED1_chr7_120983711_121302442 | 121117084 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 140 | 0.0071 | -16 | c.919 others(33): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CPED1_chr7_120983711_121302442 | 121129297 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0115 | 1 | 140 | 0.0071 | -16 | c.140 others(33): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CPHXL_chr16_75709131_75731490 | 75718159 | AGTGAGCC others(9): Show |
A | intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 388 | 0.0026 | -16 | c.219 others(30): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
| CPHXL_chr16_75709131_75731490 | 75725753 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0056 | 5 | 388 | 0.0129 | -16 | c.25+ others(29): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
| CPLANE1_chr5_37101235_37254376 | 37245297 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp1 HG02647.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0011a0001c0016others(4): Show | a0001c0001t0001a0001c0011t0004a0001c0016t0001others(5): Show | a0001c0001t0001g0069a0001c0001t0001g0086a0001c0001t0001g0180others(9): Show | 12 | 268 | 0.0448 | -16 | c.337 others(31): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 4/52 | chr5 | TogoVar | ||||||
| CPLANE2_chr1_16226692_16242183 | 16241494 | TTTCCAAA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG02723.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0051a0001c0001t0001g0053others(4): Show | 14 | 380 | 0.0368 | -16 | c.-47 others(27): Show |
CPLANE2 | ENSG00000132881.12 | transcript | ENST00000375599.8 | protein_coding | 4312 | chr1 | TogoVar | ||||||
| CPLX1_chr4_779957_831129 | 826394 | GGACCCGG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0379 | 1 | 416 | 0.0024 | -16 | c.-44 others(25): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 266 | chr4 | TogoVar | ||||||
| CPLX4_chr18_59290402_59323649 | 59304924 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0017others(4): Show | a0001c0001t0003g0005a0001c0001t0003g0021a0001c0001t0003g0022others(48): Show | 72 | 418 | 0.1723 | -16 | c.255 others(33): Show |
CPLX4 | ENSG00000166569.8 | transcript | ENST00000299721.3 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| CPM_chr12_68846175_68938171 | 68923158 | AGAGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03130.hp2 HG03540.hp1 |
a0002a0003a0004 | a0002c0010a0003c0011a0004c0013 | a0002c0010t0046a0003c0011t0012a0004c0013t0004 | a0002c0010t0046g0029a0003c0011t0012g0028a0004c0013t0004g0027 | 3 | 340 | 0.0088 | -16 | c.160 others(33): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | ||||||
| CPM_chr12_68846175_68938171 | 68935243 | ATTGTTTG others(9): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(24): Show |
a0002a0003a0005 | a0002c0003a0002c0005a0002c0008others(3): Show | a0002c0003t0001a0002c0003t0003a0002c0003t0007others(15): Show | a0002c0003t0001g0313a0002c0003t0003g0328a0002c0003t0007g0317others(24): Show | 27 | 340 | 0.0794 | -16 | c.-21 others(27): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2073 | chr12 | TogoVar | ||||||
| CPN2_chr3_194334768_194356328 | 194349778 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0078 | 2 | 440 | 0.0046 | -16 | c.-4+ others(31): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
| CPNE1_chr20_35621044_35669900 | 35658802 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01081.hp1 others(10): Show |
a0003 | a0003c0003a0003c0013 | a0003c0003t0001a0003c0013t0001 | a0003c0003t0001g0016a0003c0003t0001g0069a0003c0003t0001g0071others(9): Show | 13 | 272 | 0.0478 | -16 | c.-1+ others(31): Show |
CPNE1 | ENSG00000214078.13 | transcript | ENST00000397443.7 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
| CPNE3_chr8_86509435_86566498 | 86533024 | TTATCTAT others(9): Show |
T | intron_variant | MODIFIER | HG01975.hp2 HG02300.hp1 NA18965.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0226a0001c0001t0001g0227a0001c0001t0002g0274others(9): Show | 14 | 340 | 0.0412 | -16 | c.459 others(31): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CPNE4_chr3_131528569_132040014 | 131547486 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02486.hp1 HG02602.hp1 others(4): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(1): Show | a0001c0002t0001g0030a0001c0002t0001g0035a0001c0002t0001g0039others(4): Show | 7 | 94 | 0.0745 | -16 | c.130 others(35): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 14/15 | chr3 | TogoVar |