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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COQ8A_chr1_226935294_226992544 | 226978822 | G | GCACCCAC others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01106.hp1 HG01934.hp2 others(28): Show |
a0001a0002a0003 | a0001c0020a0002c0004a0002c0007others(4): Show | a0001c0020t0003a0002c0004t0003a0002c0004t0008others(5): Show | a0001c0020t0003g0318 a0002c0004t0003g0021 a0002c0004t0003g0022 others(23): Show |
31 | 410 | 0.0756 | 15 | c.730 others(32): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COQ8B_chr19_40686530_40721886 | 40695326 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(167): Show |
a0001a0002a0005others(6): Show | a0001c0002a0001c0003a0001c0004others(15): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(16): Show | a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0035 others(147): Show |
170 | 393 | 0.4326 | 15 | c.120 others(32): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
COQ8B_chr19_40686530_40721886 | 40695326 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0240 a0001c0004t0001g0258 a0001c0004t0001g0259 others(1): Show |
4 | 227 | 0.0176 | 15 | c.120 others(32): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47632753 | A | AGATAGAT others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03225.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0227 a0002c0003t0001g0230 |
2 | 251 | 0.0080 | 15 | c.219 others(34): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47632757 | A | AGATAGAT others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG01070.hp2 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0003a0005c0027others(1): Show | a0001c0001t0003a0001c0001t0009a0002c0003t0003others(2): Show | a0001c0001t0003g0002 a0001c0001t0003g0014 a0001c0001t0003g0027 others(12): Show |
16 | 220 | 0.0727 | 15 | c.219 others(34): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47805148 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0206 | 1 | 122 | 0.0082 | 15 | c.208 others(32): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98119798 | G | GTTTTTGT others(8): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0026 |
2 | 239 | 0.0084 | 15 | c.*49 others(26): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1176 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98119802 | G | GTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 192 | 0.0052 | 15 | c.*49 others(26): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1172 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98148084 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0188 | 1 | 339 | 0.0029 | 15 | c.201 others(32): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98148751 | C | CAAACAAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(61): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(59): Show |
64 | 331 | 0.1934 | 15 | c.201 others(32): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
CORO7_chr16_4349542_4421596 | 4395996 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02055.hp2 HG02258.hp1 others(10): Show |
a0002a0003a0004 | a0002c0001a0003c0003a0004c0005 | a0002c0001t0001a0003c0003t0001a0004c0005t0001 | a0002c0001t0001g0071 a0002c0001t0001g0121 a0002c0001t0001g0122 others(10): Show |
13 | 109 | 0.1193 | 15 | c.565 others(30): Show |
CORO7 | ENSG00000262246.6 | transcript | ENST00000251166.9 | protein_coding | 6/27 | chr16 | TogoVar | |||||||
CORO7_chr16_4349542_4421596 | 4400797 | C | CAATAATA others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01257.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0030 others(5): Show |
9 | 102 | 0.0882 | 15 | c.564 others(32): Show |
CORO7 | ENSG00000262246.6 | transcript | ENST00000251166.9 | protein_coding | 6/27 | chr16 | TogoVar | |||||||
COTL1_chr16_84560596_84623078 | 84591823 | C | CAAATAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0202 others(40): Show |
44 | 67 | 0.6567 | 15 | c.161 others(32): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
COX14_chr12_50107236_50125453 | 50112907 | C | CGTTATGT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01167.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(45): Show |
94 | 110 | 0.8545 | 15 | c.-9+ others(28): Show |
COX14 | ENSG00000178449.9 | transcript | ENST00000550487.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COX16_chr14_70320081_70364683 | 70328072 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00733.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0079 a0001c0001t0002g0036 a0001c0001t0002g0038 others(12): Show |
17 | 53 | 0.3208 | 15 | c.204 others(32): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
COX16_chr14_70320081_70364683 | 70345920 | T | TCAGCTGC others(8): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 373 | 0.0027 | 15 | c.70- others(30): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19000.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0141 a0001c0001t0013g0139 a0001c0001t0013g0140 |
3 | 87 | 0.0345 | 15 | c.434 others(30): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 2 | 86 | 0.0233 | 15 | c.434 others(30): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG01123.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0033others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0094 others(8): Show |
21 | 105 | 0.2000 | 15 | c.434 others(30): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01192.hp2 HG01516.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0031a0001c0002t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0040 others(10): Show |
34 | 118 | 0.2881 | 15 | c.434 others(30): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0014g0113 |
3 | 87 | 0.0345 | 15 | c.434 others(30): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 85 | 0.0118 | 15 | c.434 others(30): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73067864 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 85 | 0.0118 | 15 | c.434 others(30): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46880993 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0281 a0001c0001t0003g0152 |
2 | 169 | 0.0118 | 15 | c.-10 others(36): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
CPA3_chr3_148860296_148902203 | 148899547 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG03139.hp1 HG03516.hp2 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0046 a0001c0001t0001g0168 a0007c0011t0001g0197 |
3 | 15 | 0.2000 | 15 | c.*28 others(26): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | |||||||
CPA4_chr7_130288161_130329180 | 130308723 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0150 | 1 | 373 | 0.0027 | 15 | c.793 others(30): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPA4_chr7_130288161_130329180 | 130308850 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0010a0001c0004t0014 | a0001c0004t0010g0036 a0001c0004t0010g0167 a0001c0004t0010g0171 others(3): Show |
6 | 364 | 0.0165 | 15 | c.793 others(30): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67448639 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01891.hp1 HG02109.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0007 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0038 others(6): Show |
9 | 69 | 0.1304 | 15 | c.839 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67472378 | T | TTATTTTA others(8): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 134 | 0.0075 | 15 | c.838 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67543774 | C | CTATTATT others(8): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18981.hp2 NA19077.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0135 a0002c0002t0001g0020 a0004c0005t0001g0117 |
3 | 33 | 0.0909 | 15 | c.193 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67607169 | C | CTCTTCTT others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0006 | 1 | 39 | 0.0256 | 15 | c.192 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67607172 | T | TTCTTCTT others(8): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 137 | 0.0073 | 15 | c.192 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67607251 | T | TCTTCTCC others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 92 | 0.0109 | 15 | c.192 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67607251 | T | TCTTCTTC others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 92 | 0.0109 | 15 | c.192 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67630110 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02976.hp1 others(4): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0004a0008c0009t0004 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0123 others(4): Show |
7 | 37 | 0.1892 | 15 | c.117 others(32): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67673353 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03130.hp2 NA19060.hp2 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0004 | a0001c0001t0001g0037 a0001c0001t0001g0112 a0008c0009t0004g0110 |
3 | 58 | 0.0517 | 15 | c.117 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67681200 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0002c0002t0001g0013 |
3 | 51 | 0.0588 | 15 | c.117 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67733196 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0024 | 1 | 117 | 0.0085 | 15 | c.116 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67749788 | C | CCTGCAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 142 | 0.0070 | 15 | c.-36 others(26): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 3429 | chr8 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16888395 | G | GTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0110 | a0110c0063 | a0110c0063t0001 | a0110c0063t0001g0019 | 1 | 234 | 0.0043 | 15 | c.*47 others(26): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 4555 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16926304 | C | CTTTATTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01168.hp1 HG01169.hp1 others(8): Show |
a0002a0017a0034others(6): Show | a0002c0056a0017c0050a0034c0026others(7): Show | a0002c0056t0001a0017c0050t0001a0034c0026t0001others(7): Show | a0002c0056t0001g0081 a0017c0050t0001g0095 a0034c0026t0001g0233 others(8): Show |
11 | 242 | 0.0455 | 15 | c.337 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 25/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16987177 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03130.hp2 |
a0009a0091 | a0009c0004a0091c0098 | a0009c0004t0001a0091c0098t0001 | a0009c0004t0001g0069 a0091c0098t0001g0065 |
2 | 249 | 0.0080 | 15 | c.139 others(34): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16987179 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0103 | a0103c0110 | a0103c0110t0001 | a0103c0110t0001g0055 | 1 | 142 | 0.0070 | 15 | c.139 others(34): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16990863 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02809.hp1 HG02965.hp1 others(1): Show |
a0005a0084a0087others(1): Show | a0005c0015a0084c0183a0087c0184others(1): Show | a0005c0015t0002a0084c0183t0001a0087c0184t0001others(1): Show | a0005c0015t0002g0110 a0084c0183t0001g0056 a0087c0184t0001g0057 others(1): Show |
4 | 81 | 0.0494 | 15 | c.126 others(34): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 12/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 17013512 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02451.hp1 others(16): Show |
a0002a0014a0017others(15): Show | a0002c0017a0014c0105a0017c0185others(16): Show | a0002c0017t0001a0014c0105t0001a0017c0185t0001others(16): Show | a0002c0017t0001g0162 a0014c0105t0001g0140 a0017c0185t0001g0058 others(16): Show |
19 | 43 | 0.4419 | 15 | c.268 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 3/41 | chr19 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82594364 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01361.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0126 a0001c0001t0013g0127 a0001c0001t0013g0128 others(2): Show |
5 | 153 | 0.0327 | 15 | c.272 others(34): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92044163 | A | AGATGATG others(8): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0108 a0001c0001t0002g0006 a0001c0001t0002g0127 others(82): Show |
85 | 191 | 0.4450 | 15 | c.*80 others(26): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 2528 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92059325 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02055.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0005a0001c0003t0001a0001c0004t0011others(1): Show | a0001c0001t0005g0247 a0001c0001t0005g0271 a0001c0003t0001g0149 others(2): Show |
5 | 103 | 0.0485 | 15 | c.187 others(34): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92289718 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03098.hp1 NA18999.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0006a0001c0002t0003a0002c0006t0002 | a0001c0001t0006g0235 a0001c0002t0003g0093 a0002c0006t0002g0236 |
3 | 117 | 0.0256 | 15 | c.-12 others(32): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92289732 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0213 others(1): Show |
4 | 211 | 0.0190 | 15 | c.-12 others(32): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar |