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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COPB1_chr11_14452512_14504811 | 14454637 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0016others(58): Show | 65 | 386 | 0.1684 | 17 | c.*31 others(28): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 2874 | chr11 | TogoVar | ||||||
COPB1_chr11_14452512_14504811 | 14477389 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(50): Show | 57 | 386 | 0.1477 | 17 | c.135 others(34): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 11/21 | chr11 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902721 | A | AAGGAAAG others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 |
a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0266a0003c0011t0001g0288 | 2 | 330 | 0.0061 | 17 | c.735 others(32): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130591453 | C | CCCCTGCC others(10): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 326 | 0.0031 | 17 | c.737 others(36): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130659354 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01993.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0011 | a0001c0002t0007g0237a0001c0002t0007g0238a0001c0002t0007g0239others(1): Show | 4 | 326 | 0.0123 | 17 | c.243 others(34): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
COPRS_chr17_31846871_31864244 | 31858771 | A | AGGCTCCT others(10): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 372 | 0.0027 | 17 | c.99+ others(30): Show |
COPRS | ENSG00000172301.11 | transcript | ENST00000302362.11 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
COPRS_chr17_31846871_31864244 | 31859356 | C | CGGGGGCG others(10): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(207): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(50): Show | 210 | 372 | 0.5645 | 17 | c.-15 others(26): Show |
COPRS | ENSG00000172301.11 | transcript | ENST00000302362.11 | protein_coding | 113 | chr17 | TogoVar | ||||||
COPRS_chr17_31846871_31864244 | 31859356 | C | CGGGGGCG others(10): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0028 | 7 | 372 | 0.0188 | 17 | c.-15 others(26): Show |
COPRS | ENSG00000172301.11 | transcript | ENST00000302362.11 | protein_coding | 113 | chr17 | TogoVar | ||||||
COPS3_chr17_17241616_17286246 | 17258602 | G | GTTTTTAA others(10): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 3 | 352 | 0.0085 | 17 | c.936 others(34): Show |
COPS3 | ENSG00000141030.13 | transcript | ENST00000268717.10 | protein_coding | 8/11 | chr17 | TogoVar | ||||||
COPS7B_chr2_231781445_231814253 | 231781626 | G | GACCACAG others(10): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01069.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017a0001c0001t0018others(6): Show | a0001c0001t0004g0002a0001c0001t0004g0011a0001c0001t0004g0041others(32): Show | 50 | 348 | 0.1437 | 17 | c.-49 others(28): Show |
COPS7B | ENSG00000144524.18 | transcript | ENST00000350033.8 | protein_coding | 4818 | chr2 | TogoVar | ||||||
COPS9_chr2_240125828_240141305 | 240135855 | G | GGTTGATT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(303): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(36): Show | 306 | 442 | 0.6923 | 17 | c.63+ others(30): Show |
COPS9 | ENSG00000172428.11 | transcript | ENST00000607357.2 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
COQ5_chr12_120498279_120534158 | 120526698 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02818.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0037a0002c0003t0001g0287a0002c0003t0001g0314 | 4 | 388 | 0.0103 | 17 | c.202 others(34): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
COQ7_chr16_19062614_19085095 | 19064374 | T | TGTGTGTG others(10): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 NA19062.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0006a0002c0003t0002g0007 | 2 | 372 | 0.0054 | 17 | c.-32 others(28): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3239 | chr16 | TogoVar | ||||||
COQ7_chr16_19062614_19085095 | 19077590 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02615.hp2 HG02965.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0020a0002c0002t0003 | a0001c0001t0001g0134a0001c0001t0020g0101a0002c0002t0003g0080 | 3 | 372 | 0.0081 | 17 | c.576 others(32): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CORIN_chr4_47589001_47843067 | 47805148 | A | AAAAATAA others(10): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 264 | 0.0038 | 17 | c.208 others(34): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98119794 | G | GTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 342 | 0.0029 | 17 | c.*49 others(28): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1180 | chr9 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98119798 | G | GTTTTTGT others(10): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 342 | 0.0029 | 17 | c.*49 others(28): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1176 | chr9 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98119798 | G | GTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 342 | 0.0029 | 17 | c.*49 others(28): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1176 | chr9 | TogoVar | ||||||
CORO7_chr16_4349542_4421596 | 4395996 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0260 | 1 | 297 | 0.0034 | 17 | c.565 others(32): Show |
CORO7 | ENSG00000262246.6 | transcript | ENST00000251166.9 | protein_coding | 6/27 | chr16 | TogoVar | ||||||
COX15_chr10_99705868_99737127 | 99730807 | T | TCCCAAGG others(10): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 422 | 0.0024 | 17 | c.91- others(32): Show |
COX15 | ENSG00000014919.13 | transcript | ENST00000016171.6 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
COX16_chr14_70320081_70364683 | 70328072 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 HG03688.hp2 NA18950.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0024a0001c0001t0002g0034a0001c0001t0011g0190 | 5 | 376 | 0.0133 | 17 | c.204 others(34): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 3/3 | chr14 | TogoVar | ||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 384 | 0.0026 | 17 | c.434 others(32): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01515.hp1 HG02083.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0039a0001c0001t0001g0044a0001c0001t0001g0082others(2): Show | 7 | 384 | 0.0182 | 17 | c.434 others(32): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG02015.hp1 others(9): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0081a0001c0001t0001g0122others(7): Show | 12 | 384 | 0.0313 | 17 | c.434 others(32): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02056.hp2 HG02148.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0027 | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0001t0001g0112others(6): Show | 14 | 384 | 0.0365 | 17 | c.434 others(32): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
COX18_chr4_73047362_73074716 | 73067864 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01168.hp2 HG01169.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0140others(1): Show | 5 | 384 | 0.0130 | 17 | c.434 others(32): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
COX4I2_chr20_31632912_31650006 | 31633906 | T | TAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0057a0002c0002t0001g0050 | 2 | 300 | 0.0067 | 17 | c.-40 others(28): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 4005 | chr20 | TogoVar | ||||||
COX5B_chr2_97641062_97653383 | 97646769 | A | ACCCGGGA others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 346 | 0.0029 | 17 | c.104 others(32): Show |
COX5B | ENSG00000135940.7 | transcript | ENST00000258424.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COX6A1_chr12_120433113_120445730 | 120435328 | T | TCTGCTTG others(10): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | 17 | c.-27 others(28): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 2784 | chr12 | TogoVar | ||||||
COX7A2L_chr2_42344338_42366217 | 42364250 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025 | a0001c0001t0003g0003a0001c0001t0025g0079 | 2 | 406 | 0.0049 | 17 | c.-31 others(28): Show |
COX7A2L | ENSG00000115944.15 | transcript | ENST00000234301.3 | protein_coding | 3034 | chr2 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46881001 | A | AAAAATAA others(10): Show |
intron_variant | MODIFIER | HG02451.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0047a0001c0001t0004g0048 | 2 | 300 | 0.0067 | 17 | c.-10 others(38): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46881001 | A | AAAAATAA others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 300 | 0.0033 | 17 | c.-10 others(38): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46907848 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 NA18612.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041a0001c0001t0002g0042a0001c0001t0002g0043others(4): Show | 7 | 300 | 0.0233 | 17 | c.-10 others(36): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
CPA2_chr7_130261863_130294798 | 130267771 | T | TCTCTCTC others(10): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 400 | 0.0025 | 17 | c.71+ others(30): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CPA2_chr7_130261863_130294798 | 130267773 | C | CTCTTCTC others(10): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 400 | 0.0025 | 17 | c.71+ others(30): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPA4_chr7_130288161_130329180 | 130308723 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0161 | 1 | 402 | 0.0025 | 17 | c.793 others(32): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPA4_chr7_130288161_130329180 | 130308723 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 |
a0006a0007 | a0006c0010a0007c0013 | a0006c0010t0005a0007c0013t0003 | a0006c0010t0005g0055a0007c0013t0003g0119 | 2 | 402 | 0.0050 | 17 | c.793 others(32): 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(10): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0023a0001c0004t0010 | a0001c0001t0023g0150a0001c0004t0010g0170 | 2 | 402 | 0.0050 | 17 | c.793 others(32): 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(10): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18906.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0110a0001c0001t0001g0125 | 3 | 144 | 0.0208 | 17 | c.839 others(36): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67681200 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 HG03195.hp2 others(2): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0002c0002t0001a0007c0010t0001 | a0001c0001t0001g0085a0001c0001t0001g0099a0001c0001t0001g0107others(2): Show | 5 | 144 | 0.0347 | 17 | c.117 others(36): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16987177 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0045 | a0045c0051 | a0045c0051t0001 | a0045c0051t0001g0083 | 1 | 278 | 0.0036 | 17 | c.139 others(36): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16987179 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0073 | a0073c0082 | a0073c0082t0001 | a0073c0082t0001g0069 | 1 | 278 | 0.0036 | 17 | c.139 others(36): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82615295 | G | GACCTTGC others(10): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0349 | 1 | 354 | 0.0028 | 17 | c.271 others(36): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92289718 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 278 | 0.0036 | 17 | c.-12 others(34): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92289732 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02155.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0045 | a0001c0001t0002g0134a0001c0001t0045g0277 | 2 | 278 | 0.0072 | 17 | c.-12 others(34): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 120994657 | G | GTGTGTGT others(10): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0004 | a0004c0013 | a0004c0013t0006 | a0004c0013t0006g0035 | 1 | 140 | 0.0071 | 17 | c.249 others(34): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121088763 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01099.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0131a0002c0002t0002g0102 | 2 | 140 | 0.0143 | 17 | c.617 others(34): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121199693 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01081.hp2 others(6): Show |
a0001a0002a0006 | a0001c0003a0002c0002a0006c0010 | a0001c0003t0004a0001c0003t0013a0002c0002t0001others(5): Show | a0001c0003t0004g0066a0001c0003t0013g0009a0002c0002t0001g0074others(6): Show | 9 | 140 | 0.0643 | 17 | c.205 others(38): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | chr7 | TogoVar | ||||||
CPHXL_chr16_75709131_75731490 | 75725753 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01070.hp1 HG01169.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0050a0001c0001t0001g0133others(2): Show | 10 | 388 | 0.0258 | 17 | c.25+ others(30): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
CPHXL_chr16_75709131_75731490 | 75725774 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 388 | 0.0026 | 17 | c.25+ others(30): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar |