| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CPA2_chr7_130261863_130294798 | 130268294 | GGGGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00639.hp1 others(57): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0002t0001a0005c0007t0001 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0016others(39): Show | 60 | 400 | 0.1500 | -8 | c.72- others(21): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CPA2_chr7_130261863_130294798 | 130285990 | CTCAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00609.hp1 others(86): Show |
a0000a0001a0002 | a0000c0008a0001c0001a0001c0006others(1): Show | a0000c0008t0001a0001c0001t0001a0001c0006t0001others(1): Show | a0000c0008t0001g0081a0001c0001t0001g0001a0001c0001t0001g0002others(51): Show | 89 | 400 | 0.2225 | -8 | c.107 others(27): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 10/10 | chr7 | TogoVar | ||||||
| CPA3_chr3_148860296_148902203 | 148873025 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(126): Show |
a0001a0006a0008 | a0001c0001a0001c0010a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0002others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0037a0001c0001t0001g0064others(68): Show | 129 | 400 | 0.3225 | -8 | c.269 others(25): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CPA4_chr7_130288161_130329180 | 130323895 | TTGTGTGT others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(105): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0011others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0035others(73): Show | 108 | 402 | 0.2687 | -8 | c.*12 others(19): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 11/11 | 1253 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
| CPA5_chr7_130339816_130373730 | 130340335 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00738.hp1 others(12): Show |
a0001a0002a0004 | a0001c0004a0002c0005a0004c0012 | a0001c0004t0004a0002c0005t0004a0004c0012t0004 | a0001c0004t0004g0013a0001c0004t0004g0020a0001c0004t0004g0063others(5): Show | 15 | 412 | 0.0364 | -8 | c.-50 others(19): Show |
CPA5 | ENSG00000158525.16 | transcript | ENST00000474905.6 | protein_coding | 4480 | chr7 | TogoVar | ||||||
| CPA5_chr7_130339816_130373730 | 130343167 | CTCTTTCT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02970.hp2 HG03195.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0002a0002c0005t0001a0002c0005t0005 | a0001c0002t0002g0004a0002c0005t0001g0011a0002c0005t0005g0032 | 4 | 412 | 0.0097 | -8 | c.-21 others(19): Show |
CPA5 | ENSG00000158525.16 | transcript | ENST00000474905.6 | protein_coding | 1648 | chr7 | TogoVar | ||||||
| CPA5_chr7_130339816_130373730 | 130357952 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG03669.hp1 HG03688.hp1 HG03834.hp2 |
a0002 | a0002c0005a0002c0015 | a0002c0005t0001a0002c0015t0002 | a0002c0005t0001g0061a0002c0015t0002g0093 | 3 | 412 | 0.0073 | -8 | c.334 others(25): Show |
CPA5 | ENSG00000158525.16 | transcript | ENST00000474905.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CPA6_chr8_67417038_67751360 | 67430131 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(12): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0018others(12): Show | 15 | 144 | 0.1042 | -8 | c.104 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67447506 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02818.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0052a0001c0001t0001g0086a0001c0001t0001g0127others(3): Show | 6 | 144 | 0.0417 | -8 | c.839 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67447540 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0113a0001c0001t0001g0114 | 3 | 144 | 0.0208 | -8 | c.839 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67463469 | AATAAATA others(1): Show |
A | intron_variant | MODIFIER | HG02723.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0110 | 2 | 144 | 0.0139 | -8 | c.838 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67475767 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG01258.hp2 HG02257.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0050a0001c0001t0001g0059others(2): Show | 5 | 144 | 0.0347 | -8 | c.838 others(25): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67475881 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0036others(4): Show | 7 | 144 | 0.0486 | -8 | c.838 others(25): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67496519 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01175.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0035a0001c0001t0001g0112a0001c0001t0002g0025others(9): Show | 12 | 144 | 0.0833 | -8 | c.636 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67616501 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG00735.hp2 others(22): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0033a0001c0001t0001g0034others(22): Show | 25 | 144 | 0.1736 | -8 | c.192 others(25): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67684001 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01884.hp1 others(18): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0007 | a0001c0001t0001a0002c0002t0001a0009c0007t0001 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0018others(18): Show | 21 | 144 | 0.1458 | -8 | c.117 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67699484 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp1 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0104a0002c0002t0001g0101a0002c0002t0001g0102others(1): Show | 4 | 144 | 0.0278 | -8 | c.116 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67713095 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG01258.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0087 | 2 | 144 | 0.0139 | -8 | c.116 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| CPA6_chr8_67417038_67751360 | 67733217 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG02109.hp1 HG02451.hp1 others(9): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0006c0009t0004others(1): Show | a0001c0001t0001g0114a0001c0001t0001g0123a0001c0001t0001g0125others(9): Show | 12 | 144 | 0.0833 | -8 | c.116 others(27): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16906337 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01099.hp1 HG01175.hp2 others(19): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0013a0002c0058others(16): Show | a0001c0001t0002a0001c0013t0001a0002c0058t0002others(16): Show | a0001c0001t0002g0185a0001c0001t0002g0219a0001c0013t0001g0138others(19): Show | 22 | 278 | 0.0791 | -8 | c.402 others(25): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16906403 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01109.hp2 others(15): Show |
a0002a0010a0015others(10): Show | a0002c0018a0010c0004a0015c0008others(11): Show | a0002c0018t0001a0010c0004t0001a0015c0008t0001others(12): Show | a0002c0018t0001g0115a0002c0018t0001g0116a0010c0004t0001g0089others(15): Show | 18 | 278 | 0.0648 | -8 | c.402 others(25): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16939149 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG03209.hp2 |
a0063a0100a0110 | a0063c0144a0100c0068a0110c0115 | a0063c0144t0001a0100c0068t0002a0110c0115t0001 | a0063c0144t0001g0118a0100c0068t0002g0159a0110c0115t0001g0098 | 3 | 278 | 0.0108 | -8 | c.279 others(25): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 22/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16983399 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0047a0100a0122 | a0047c0046a0100c0068a0122c0162 | a0047c0046t0002a0100c0068t0002a0122c0162t0001 | a0047c0046t0002g0135a0047c0046t0002g0136a0100c0068t0002g0159others(1): Show | 4 | 278 | 0.0144 | -8 | c.139 others(27): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16990863 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01433.hp2 others(4): Show |
a0001a0010a0012others(3): Show | a0001c0001a0010c0004a0012c0083others(3): Show | a0001c0001t0002a0010c0004t0001a0012c0083t0001others(3): Show | a0001c0001t0002g0277a0010c0004t0001g0089a0010c0004t0001g0254others(4): Show | 7 | 278 | 0.0252 | -8 | c.126 others(27): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 12/41 | chr19 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 17031553 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG00642.hp2 others(13): Show |
a0003a0004a0005others(11): Show | a0003c0002a0003c0151a0004c0005others(12): Show | a0003c0002t0002a0003c0151t0001a0004c0005t0002others(12): Show | a0003c0002t0002g0252a0003c0151t0001g0143a0004c0005t0002g0188others(13): Show | 16 | 278 | 0.0576 | -8 | c.-49 others(19): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 4744 | chr19 | TogoVar | ||||||
| CPB1_chr3_148822811_148865187 | 148846797 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG01175.hp2 HG01346.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0004c0010t0001 | a0001c0001t0001g0032a0001c0001t0001g0099a0001c0001t0001g0164others(9): Show | 13 | 456 | 0.0285 | -8 | c.981 others(25): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CPB2_chr13_46048186_46110033 | 46108157 | TTATATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0042others(6): Show | 9 | 330 | 0.0273 | -8 | c.-31 others(19): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 3125 | chr13 | TogoVar | ||||||
| CPD_chr17_30373927_30474989 | 30449129 | TATAAATA others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01361.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0264a0001c0001t0005g0265a0001c0001t0005g0266 | 3 | 296 | 0.0101 | -8 | c.287 others(25): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CPEB1_chr15_82538201_82652363 | 82579918 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00639.hp1 others(79): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0025others(17): Show | a0001c0001t0004g0090a0001c0001t0004g0091a0001c0001t0004g0092others(79): Show | 82 | 354 | 0.2316 | -8 | c.272 others(25): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
| CPEB1_chr15_82538201_82652363 | 82614848 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001a0001c0001t0018g0084 | 3 | 354 | 0.0085 | -8 | c.271 others(27): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
| CPEB1_chr15_82538201_82652363 | 82641105 | AATTCTCC others(1): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02965.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015a0001c0001t0026 | a0001c0001t0009g0187a0001c0001t0009g0188a0001c0001t0015g0189others(3): Show | 6 | 354 | 0.0170 | -8 | c.-98 others(25): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
| CPEB1_chr15_82538201_82652363 | 82645868 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02818.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216a0002c0002t0002g0217a0002c0002t0002g0218others(1): Show | 4 | 354 | 0.0113 | -8 | c.-98 others(25): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
| CPEB2_chr4_14997481_15075151 | 15018936 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02523.hp1 HG02647.hp2 others(10): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0002c0017others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(7): Show | a0001c0001t0001g0159a0001c0001t0003g0149a0002c0002t0002g0064others(8): Show | 13 | 288 | 0.0451 | -8 | c.212 others(27): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CPEB3_chr10_92041692_92296078 | 92071070 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG02145.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0015a0001c0001t0019others(3): Show | a0001c0001t0006g0242a0001c0001t0015g0198a0001c0001t0015g0211others(4): Show | 7 | 278 | 0.0252 | -8 | c.186 others(29): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 9/9 | chr10 | TogoVar | ||||||
| CPEB3_chr10_92041692_92296078 | 92082264 | CTTTGTTT others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0007a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0007g0150a0001c0001t0007g0151a0001c0001t0007g0152others(6): Show | 9 | 278 | 0.0324 | -8 | c.168 others(25): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 8/9 | chr10 | TogoVar | ||||||
| CPEB3_chr10_92041692_92296078 | 92181367 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00738.hp2 others(40): Show |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(4): Show | a0001c0002t0002g0001a0001c0002t0002g0008a0001c0002t0002g0016others(39): Show | 43 | 278 | 0.1547 | -8 | c.116 others(25): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
| CPEB3_chr10_92041692_92296078 | 92258625 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 NA19068.hp2 NA19089.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0016 | a0001c0003t0001g0182a0001c0003t0001g0187a0001c0003t0016g0153 | 3 | 278 | 0.0108 | -8 | c.-11 others(27): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| CPEB4_chr5_173883349_173966980 | 173893030 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0049 | a0001c0001t0019g0039a0001c0001t0019g0040a0001c0001t0049g0267 | 3 | 372 | 0.0081 | -8 | c.112 others(27): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CPED1_chr7_120983711_121302442 | 121078498 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0056a0001c0001t0001g0071a0001c0001t0001g0083others(76): Show | 79 | 140 | 0.5643 | -8 | c.616 others(27): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CPED1_chr7_120983711_121302442 | 121098739 | TATATAAA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00639.hp1 others(39): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0007a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0047a0001c0001t0001g0056a0001c0001t0001g0071others(39): Show | 42 | 140 | 0.3000 | -8 | c.749 others(23): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CPED1_chr7_120983711_121302442 | 121189791 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00741.hp2 others(8): Show |
a0002 | a0002c0002a0002c0017 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0055a0002c0002t0001g0075a0002c0002t0001g0086others(8): Show | 11 | 140 | 0.0786 | -8 | c.205 others(29): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CPHXL2_chr16_75655227_75682009 | 75678267 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0103 | 6 | 392 | 0.0153 | -8 | c.-12 others(19): Show |
CPHXL2 | ENSG00000284484.1 | transcript | ENST00000640173.1 | protein_coding | 1259 | chr16 | TogoVar | ||||||
| CPLANE1_chr5_37101235_37254376 | 37245297 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00621.hp1 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0045others(9): Show | a0001c0001t0001a0001c0001t0010a0001c0009t0001others(10): Show | a0001c0001t0001g0078a0001c0001t0001g0123a0001c0001t0001g0124others(42): Show | 45 | 268 | 0.1679 | -8 | c.337 others(23): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 4/52 | chr5 | TogoVar | ||||||
| CPLX4_chr18_59290402_59323649 | 59304924 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015 | a0001c0001t0001g0034a0001c0001t0001g0072a0001c0001t0001g0190others(2): Show | 8 | 418 | 0.0191 | -8 | c.255 others(25): Show |
CPLX4 | ENSG00000166569.8 | transcript | ENST00000299721.3 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| CPLX4_chr18_59290402_59323649 | 59310947 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01168.hp2 HG01433.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0201a0001c0001t0001g0202others(14): Show | 22 | 418 | 0.0526 | -8 | c.255 others(25): Show |
CPLX4 | ENSG00000166569.8 | transcript | ENST00000299721.3 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| CPLX4_chr18_59290402_59323649 | 59323185 | AGTGTGTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01433.hp2 HG01515.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002a0001c0001t0002g0252a0001c0001t0002g0253others(4): Show | 11 | 418 | 0.0263 | -8 | c.-47 others(19): Show |
CPLX4 | ENSG00000166569.8 | transcript | ENST00000299721.3 | protein_coding | 4537 | chr18 | TogoVar | ||||||
| CPM_chr12_68846175_68938171 | 68923158 | AGAGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG01074.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0072a0001c0001t0001g0160a0001c0001t0001g0161others(49): Show | 53 | 340 | 0.1559 | -8 | c.160 others(25): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | ||||||
| CPM_chr12_68846175_68938171 | 68923915 | TTAAAACT others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp2 HG02723.hp1 others(13): Show |
a0002a0003 | a0002c0003a0002c0005a0002c0008others(1): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0015others(8): Show | a0002c0003t0003g0328a0002c0003t0007g0324a0002c0003t0015g0329others(13): Show | 16 | 340 | 0.0471 | -8 | c.160 others(25): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | ||||||
| CPM_chr12_68846175_68938171 | 68935243 | ATTGTTTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(190): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0074a0001c0001t0001g0122a0001c0001t0001g0129others(189): Show | 193 | 340 | 0.5677 | -8 | c.-21 others(19): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2073 | chr12 | TogoVar | ||||||
| CPN2_chr3_194334768_194356328 | 194349778 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02258.hp2 others(14): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0004a0004c0012others(4): Show | a0001c0001t0001a0003c0004t0004a0004c0012t0012others(5): Show | a0001c0001t0001g0114a0001c0001t0001g0141a0003c0004t0004g0034others(10): Show | 17 | 440 | 0.0386 | -8 | c.-4+ others(23): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar |