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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COX18_chr4_73047362_73074716 | 73067841 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01433.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0021 | a0001c0001t0003g0019a0001c0001t0003g0054a0001c0001t0003g0076others(4): Show | 10 | 384 | 0.0260 | 5 | c.434 others(20): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
COX20_chr1_244830658_244850057 | 244843190 | T | TAGAAA | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01074.hp2 others(66): Show |
a0001a0004a0005 | a0001c0001a0004c0006a0005c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(22): Show | 69 | 298 | 0.2315 | 5 | c.*18 others(12): Show |
COX20 | ENSG00000203667.10 | transcript | ENST00000411948.7 | protein_coding | 4/4 | 19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
COX4I2_chr20_31632912_31650006 | 31636646 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG03041.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016a0002c0002t0001g0036a0002c0002t0001g0048others(3): Show | 6 | 300 | 0.0200 | 5 | c.-13 others(16): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 1265 | chr20 | TogoVar | ||||||
COX5A_chr15_74914791_74943073 | 74916019 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01975.hp2 HG02630.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0018a0001c0001t0001g0038others(15): Show | 20 | 428 | 0.0467 | 5 | c.*44 others(16): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 3771 | chr15 | TogoVar | ||||||
COX5A_chr15_74914791_74943073 | 74931016 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00621.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0033others(15): Show | 27 | 428 | 0.0631 | 5 | c.101 others(22): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
COX6A2_chr16_31422731_31433360 | 31427911 | G | GCGCCC | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02486.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0026others(10): Show | 25 | 412 | 0.0607 | 5 | c.211 others(18): Show |
COX6A2 | ENSG00000156885.6 | transcript | ENST00000287490.5 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
COX6B1_chr19_35643323_35663782 | 35647250 | G | GAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01099.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(9): Show | 23 | 440 | 0.0523 | 5 | c.-11 others(16): Show |
COX6B1 | ENSG00000126267.11 | transcript | ENST00000649813.2 | protein_coding | 1072 | chr19 | TogoVar | ||||||
COX7A2L_chr2_42344338_42366217 | 42355717 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0004a0001c0001t0001g0021a0001c0001t0001g0037others(5): Show | 35 | 406 | 0.0862 | 5 | c.73- others(20): Show |
COX7A2L | ENSG00000115944.15 | transcript | ENST00000234301.3 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46739343 | C | CCAAAA | intron_variant | MODIFIER | HG01167.hp1 HG02080.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0138others(4): Show | 7 | 300 | 0.0233 | 5 | c.-49 others(22): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46744738 | A | ATTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 HG02165.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0107a0001c0001t0003g0144a0001c0001t0003g0148others(7): Show | 10 | 300 | 0.0333 | 5 | c.-49 others(22): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46747280 | C | CTATTT | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0077others(8): Show | 11 | 300 | 0.0367 | 5 | c.-49 others(24): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46763142 | T | TATATA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(127): Show |
a0000a0001a0002 | a0000c0002a0001c0001a0002c0003 | a0000c0002t0003a0001c0001t0001a0001c0001t0002others(5): Show | a0000c0002t0003g0233a0001c0001t0001g0002a0001c0001t0001g0097others(125): Show | 130 | 300 | 0.4333 | 5 | c.-49 others(24): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46907848 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG01175.hp1 others(10): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0003a0001c0001t0001a0001c0001t0003 | a0000c0002t0003g0233a0001c0001t0001g0226a0001c0001t0001g0236others(10): Show | 13 | 300 | 0.0433 | 5 | c.-10 others(24): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
COX8A_chr11_63969620_63981543 | 63976983 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 9 | 336 | 0.0268 | 5 | c.*66 others(14): Show |
COX8A | ENSG00000176340.4 | transcript | ENST00000314133.4 | protein_coding | 441 | chr11 | TogoVar | ||||||
COX8C_chr14_93342182_93353356 | 93348605 | A | ATTTCT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01081.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0002c0002t0001g0007others(2): Show | 39 | 427 | 0.0913 | 5 | c.*48 others(14): Show |
COX8C | ENSG00000187581.3 | transcript | ENST00000342144.3 | protein_coding | 250 | chr14 | TogoVar | ||||||
CPA3_chr3_148860296_148902203 | 148892046 | A | ACTCTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(262): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0011others(146): Show | 265 | 400 | 0.6625 | 5 | c.106 others(24): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPA3_chr3_148860296_148902203 | 148899547 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG02004.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0019others(13): Show | 19 | 400 | 0.0475 | 5 | c.*28 others(16): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | ||||||
CPA4_chr7_130288161_130329180 | 130296679 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(168): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0011a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0102a0001c0001t0002g0008a0001c0001t0002g0009others(128): Show | 171 | 402 | 0.4254 | 5 | c.69- others(20): Show |
CPA4 | ENSG00000128510.12 | transcript | ENST00000222482.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPA5_chr7_130339816_130373730 | 130357993 | T | TGTGTG | intron_variant | MODIFIER | HG02818.hp1 HG03927.hp2 HG04204.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0146a0001c0002t0002g0078a0001c0003t0003g0118others(1): Show | 4 | 412 | 0.0097 | 5 | c.334 others(22): Show |
CPA5 | ENSG00000158525.16 | transcript | ENST00000474905.6 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67421105 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01175.hp1 HG02135.hp2 others(4): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0004 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0052a0001c0001t0001g0112a0001c0001t0001g0116others(4): Show | 7 | 144 | 0.0486 | 5 | c.*13 others(16): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 932 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67458198 | C | CTTTTA | intron_variant | MODIFIER | HG00423.hp2 HG01891.hp1 HG01891.hp2 others(37): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0007 | a0001c0001t0001a0002c0002t0001a0009c0007t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0009others(37): Show | 40 | 144 | 0.2778 | 5 | c.839 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67463486 | A | ATAAAT | intron_variant | MODIFIER | NA18964.hp2 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0086a0001c0001t0003g0001 | 2 | 144 | 0.0139 | 5 | c.838 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67468581 | A | AAAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(82): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(82): Show | 85 | 144 | 0.5903 | 5 | c.838 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67524613 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG02258.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0018a0001c0001t0001g0075a0001c0001t0001g0076others(8): Show | 11 | 144 | 0.0764 | 5 | c.193 others(22): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67610021 | C | CAACAA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG02257.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0119a0001c0001t0001g0127others(6): Show | 9 | 144 | 0.0625 | 5 | c.192 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67629479 | C | CAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0088others(4): Show | 7 | 144 | 0.0486 | 5 | c.117 others(22): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67660322 | G | GTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01255.hp1 HG01261.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0056others(18): Show | 21 | 144 | 0.1458 | 5 | c.117 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67668781 | G | GGCTTT | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0002c0002t0001g0013 | 3 | 144 | 0.0208 | 5 | c.117 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67728133 | C | CAAACA | intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01891.hp2 others(19): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(19): Show | 22 | 144 | 0.1528 | 5 | c.116 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16932563 | A | AAATAC | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(35): Show |
a0002a0004a0007others(26): Show | a0002c0056a0002c0176a0004c0180others(33): Show | a0002c0056t0001a0002c0176t0001a0004c0180t0001others(33): Show | a0002c0056t0001g0081a0002c0176t0001g0014a0004c0180t0001g0041others(35): Show | 38 | 278 | 0.1367 | 5 | c.284 others(24): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 23/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16948868 | A | AAAGGG | intron_variant | MODIFIER | HG01891.hp1 HG02074.hp2 HG02135.hp1 others(2): Show |
a0001a0011a0063others(1): Show | a0001c0007a0001c0013a0011c0091others(2): Show | a0001c0007t0002a0001c0013t0001a0011c0091t0001others(2): Show | a0001c0007t0002g0221a0001c0013t0001g0090a0011c0091t0001g0179others(2): Show | 5 | 278 | 0.0180 | 5 | c.250 others(24): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 20/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 17013512 | A | AAAAAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(19): Show |
a0001a0002a0005others(14): Show | a0001c0033a0002c0120a0005c0003others(17): Show | a0001c0033t0002a0002c0120t0001a0005c0003t0002others(17): Show | a0001c0033t0002g0027a0002c0120t0001g0074a0005c0003t0002g0125others(19): Show | 22 | 278 | 0.0791 | 5 | c.268 others(22): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 3/41 | chr19 | TogoVar | ||||||
CPD_chr17_30373927_30474989 | 30400652 | C | CTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(1): Show | a0001c0001t0001g0082a0001c0001t0007g0272a0001c0001t0007g0273others(7): Show | 10 | 296 | 0.0338 | 5 | c.994 others(24): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CPD_chr17_30373927_30474989 | 30439368 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(220): Show | 235 | 296 | 0.7939 | 5 | c.223 others(22): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CPD_chr17_30373927_30474989 | 30450859 | C | CAAACA | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0021a0001c0001t0009g0022a0001c0001t0009g0023others(1): Show | 4 | 296 | 0.0135 | 5 | c.307 others(22): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CPEB1_chr15_82538201_82652363 | 82594364 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(187): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(32): Show | a0001c0001t0001g0268a0001c0001t0010g0110a0001c0001t0010g0196others(186): Show | 190 | 354 | 0.5367 | 5 | c.272 others(24): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82603544 | C | CATTAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(35): Show | a0001c0001t0001g0268a0001c0001t0004g0202a0001c0001t0004g0203others(213): Show | 217 | 354 | 0.6130 | 5 | c.271 others(24): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82607162 | A | ATATCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0004a0001c0001t0010a0001c0001t0014others(32): Show | a0001c0001t0004g0220a0001c0001t0004g0221a0001c0001t0010g0110others(198): Show | 202 | 354 | 0.5706 | 5 | c.271 others(24): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82608763 | G | GATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0010a0001c0001t0014a0001c0001t0018others(32): Show | a0001c0001t0010g0110a0001c0001t0010g0196a0001c0001t0010g0197others(198): Show | 202 | 354 | 0.5706 | 5 | c.271 others(24): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92095601 | T | TATATA | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0005a0001c0001t0036a0001c0001t0038others(1): Show | a0001c0001t0005g0247a0001c0001t0036g0275a0001c0001t0038g0263others(1): Show | 4 | 278 | 0.0144 | 5 | c.157 others(24): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92124443 | G | GAACAA | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01257.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021a0001c0002t0002g0022a0001c0002t0002g0029others(2): Show | 5 | 278 | 0.0180 | 5 | c.145 others(26): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92240862 | A | AAAAAC | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00639.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0111a0001c0001t0002g0002a0001c0001t0002g0003others(75): Show | 78 | 278 | 0.2806 | 5 | c.-11 others(20): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92289718 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02083.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0262a0001c0001t0003g0107a0001c0001t0003g0117others(4): Show | 7 | 278 | 0.0252 | 5 | c.-12 others(22): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
CPEB4_chr5_173883349_173966980 | 173950603 | C | CAAAAT | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01346.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0046a0001c0001t0001g0083others(10): Show | 17 | 372 | 0.0457 | 5 | c.166 others(22): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CPEB4_chr5_173883349_173966980 | 173962076 | T | TTTTTA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02165.hp1 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0002a0001c0001t0001g0084a0001c0001t0003g0079others(1): Show | 4 | 372 | 0.0108 | 5 | c.*59 others(16): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 97 | chr5 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 120994656 | T | TTGTTG | intron_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG01884.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0003t0003others(6): Show | a0001c0001t0003g0001a0001c0001t0003g0008a0001c0001t0005g0003others(19): Show | 22 | 140 | 0.1571 | 5 | c.249 others(22): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 2/22 | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 120997927 | A | AAAAAT | intron_variant | MODIFIER | HG02886.hp2 HG02965.hp2 NA18941.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0056a0001c0001t0002g0051a0001c0001t0004g0064others(4): Show | 7 | 140 | 0.0500 | 5 | c.249 others(22): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121007967 | G | GTTTTC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(90): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0043a0001c0001t0001g0047a0001c0001t0001g0071others(90): Show | 93 | 140 | 0.6643 | 5 | c.250 others(22): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121063381 | G | GAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01106.hp2 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0099a0001c0001t0001g0106a0001c0001t0002g0062others(14): Show | 17 | 140 | 0.1214 | 5 | c.541 others(20): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPED1_chr7_120983711_121302442 | 121078045 | T | TTTTTG | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(19): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(19): Show | 22 | 140 | 0.1571 | 5 | c.616 others(24): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |