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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COX16_chr14_70320081_70364683 | 70324718 | TTACTC | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01891.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150a0001c0001t0003g0237a0001c0001t0003g0268others(7): Show | 10 | 376 | 0.0266 | -5 | c.*16 others(16): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 362 | chr14 | TogoVar | ||||||
COX16_chr14_70320081_70364683 | 70357158 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG02280.hp1 HG02451.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0095a0001c0001t0001g0096a0001c0001t0001g0097others(13): Show | 16 | 376 | 0.0426 | -5 | c.69+ others(20): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
COX17_chr3_119664532_119682406 | 119677003 | TGGGGC | T | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(2): Show | 8 | 420 | 0.0191 | -5 | c.107 others(20): Show |
COX17 | ENSG00000138495.7 | transcript | ENST00000261070.7 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
COX19_chr7_959852_980549 | 966143 | CTTTCT | C | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01934.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022a0001c0001t0031others(3): Show | a0001c0001t0003g0003a0001c0001t0003g0057a0001c0001t0003g0058others(16): Show | 49 | 432 | 0.1134 | -5 | c.*32 others(16): Show |
COX19 | ENSG00000240230.6 | transcript | ENST00000344111.4 | protein_coding | 3/3 | 3230 | chr7 | TogoVar | |||||
COX20_chr1_244830658_244850057 | 244831658 | TTTTTG | T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0056others(1): Show | 10 | 298 | 0.0336 | -5 | c.-40 others(16): Show |
COX20 | ENSG00000203667.10 | transcript | ENST00000411948.7 | protein_coding | 3999 | chr1 | TogoVar | ||||||
COX20_chr1_244830658_244850057 | 244832393 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01433.hp2 HG02922.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006a0001c0001t0002g0010a0001c0001t0002g0055others(1): Show | 8 | 298 | 0.0269 | -5 | c.-33 others(16): Show |
COX20 | ENSG00000203667.10 | transcript | ENST00000411948.7 | protein_coding | 3264 | chr1 | TogoVar | ||||||
COX4I1_chr16_85794695_85812068 | 85802550 | CAACAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(418): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(88): Show | 421 | 432 | 0.9745 | -5 | c.73+ others(20): Show |
COX4I1 | ENSG00000131143.10 | transcript | ENST00000253452.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
COX5A_chr15_74914791_74943073 | 74917216 | GGTAGC | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0020others(52): Show | 82 | 428 | 0.1916 | -5 | c.*32 others(16): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 2574 | chr15 | TogoVar | ||||||
COX5A_chr15_74914791_74943073 | 74936271 | AAAAAC | A | intron_variant | MODIFIER | HG01975.hp2 HG02273.hp1 NA18948.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0038a0001c0001t0001g0180others(12): Show | 18 | 428 | 0.0421 | -5 | c.100 others(22): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
COX5B_chr2_97641062_97653383 | 97652143 | TTTAAG | T | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 346 | 0.0087 | -5 | c.*40 others(16): Show |
COX5B | ENSG00000135940.7 | transcript | ENST00000258424.3 | protein_coding | 3761 | chr2 | TogoVar | ||||||
COX6C_chr8_99872865_99898707 | 99886677 | AGAAAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00639.hp2 others(80): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0074a0001c0002t0002g0005a0001c0002t0002g0006others(38): Show | 83 | 356 | 0.2332 | -5 | c.*15 others(20): Show |
COX6C | ENSG00000164919.11 | transcript | ENST00000520468.7 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
COX7A2_chr6_75232787_75248801 | 75242818 | CAAAAA | C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01106.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0012others(7): Show | 32 | 382 | 0.0838 | -5 | c.18+ others(18): Show |
COX7A2 | ENSG00000112695.13 | transcript | ENST00000684430.2 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
COX7A2_chr6_75232787_75248801 | 75248719 | GAACAT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(38): Show | 309 | 382 | 0.8089 | -5 | c.-49 others(16): Show |
COX7A2 | ENSG00000112695.13 | transcript | ENST00000684430.2 | protein_coding | 4919 | chr6 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46739343 | CCAAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0128others(2): Show | 5 | 300 | 0.0167 | -5 | c.-49 others(22): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46759899 | GTCTTA | G | intron_variant | MODIFIER | HG03486.hp2 HG03490.hp1 HG04204.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0121others(1): Show | 4 | 300 | 0.0133 | -5 | c.-49 others(24): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46762371 | CACAAT | C | intron_variant | MODIFIER | HG01433.hp1 HG01952.hp1 HG02015.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0161a0001c0001t0001g0171others(18): Show | 21 | 300 | 0.0700 | -5 | c.-49 others(24): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
COX7B2_chr4_46729827_46914245 | 46773822 | TTAGTC | T | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0128others(1): Show | 4 | 300 | 0.0133 | -5 | c.-49 others(24): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
COX7B_chrX_77894468_77912376 | 77898349 | TTTTTC | T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0047others(2): Show | 8 | 294 | 0.0272 | -5 | c.-12 others(16): Show |
COX7B | ENSG00000131174.7 | transcript | ENST00000650309.2 | protein_coding | 1118 | chrX | TogoVar | ||||||
COX7B_chrX_77894468_77912376 | 77906971 | GTTGTT | G | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02559.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0004g0001a0001c0001t0004g0009a0001c0001t0004g0010others(13): Show | 24 | 294 | 0.0816 | -5 | c.*17 others(16): Show |
COX7B | ENSG00000131174.7 | transcript | ENST00000650309.2 | protein_coding | 3/3 | 1723 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
COX8C_chr14_93342182_93353356 | 93343771 | ATTCAT | A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 427 | 0.0070 | -5 | c.-34 others(16): Show |
COX8C | ENSG00000187581.3 | transcript | ENST00000342144.3 | protein_coding | 3410 | chr14 | TogoVar | ||||||
CPA1_chr7_130375494_130393108 | 130389406 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(11): Show | 47 | 434 | 0.1083 | -5 | c.*13 others(16): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 1299 | chr7 | TogoVar | ||||||
CPA1_chr7_130375494_130393108 | 130390125 | CATTAT | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0014others(4): Show | 25 | 434 | 0.0576 | -5 | c.*21 others(16): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 2018 | chr7 | TogoVar | ||||||
CPA3_chr3_148860296_148902203 | 148872061 | ATTTAG | A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01175.hp2 others(40): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0029others(22): Show | 43 | 400 | 0.1075 | -5 | c.269 others(22): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPA3_chr3_148860296_148902203 | 148895858 | TTATGA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(119): Show |
a0001a0006a0008 | a0001c0001a0001c0010a0006c0006others(1): Show | a0001c0001t0002a0001c0010t0002a0006c0006t0002others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0008others(64): Show | 122 | 400 | 0.3050 | -5 | c.106 others(22): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPA6_chr8_67417038_67751360 | 67475812 | TCTTTC | T | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 HG03516.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0022a0001c0001t0001g0030a0001c0001t0001g0056others(4): Show | 7 | 144 | 0.0486 | -5 | c.838 others(22): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67475818 | CTTTCT | C | intron_variant | MODIFIER | HG01069.hp2 HG02109.hp2 HG02145.hp2 others(10): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0009others(2): Show | a0001c0001t0001a0002c0002t0001a0006c0009t0004others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0044others(10): Show | 13 | 144 | 0.0903 | -5 | c.838 others(22): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67475867 | CTTTCT | C | intron_variant | MODIFIER | HG03492.hp1 NA18612.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0100a0002c0002t0001g0068 | 2 | 144 | 0.0139 | -5 | c.838 others(22): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67610021 | CAACAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01167.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0026a0001c0001t0001g0035a0001c0001t0001g0104others(11): Show | 14 | 144 | 0.0972 | -5 | c.192 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67713774 | TAAGAG | T | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 NA20300.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0005a0001c0001t0001g0076a0007c0010t0001g0006 | 3 | 144 | 0.0208 | -5 | c.116 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67716151 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0027others(45): Show | 48 | 144 | 0.3333 | -5 | c.116 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67728133 | CAAACA | C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01070.hp1 others(80): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(80): Show | 83 | 144 | 0.5764 | -5 | c.116 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67734497 | ATGACT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02451.hp1 others(8): Show |
a0001a0006a0008 | a0001c0001a0006c0009a0008c0008 | a0001c0001t0001a0006c0009t0004a0008c0008t0001 | a0001c0001t0001g0110a0001c0001t0001g0112a0001c0001t0001g0113others(8): Show | 11 | 144 | 0.0764 | -5 | c.116 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16948868 | AAAGGG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(90): Show |
a0001a0002a0003others(51): Show | a0001c0001a0001c0007a0001c0033others(67): Show | a0001c0001t0002a0001c0007t0002a0001c0033t0002others(67): Show | a0001c0001t0002g0158a0001c0001t0002g0185a0001c0001t0002g0199others(90): Show | 93 | 278 | 0.3345 | -5 | c.250 others(24): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 20/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16984331 | AGAGAG | A | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG01975.hp1 others(6): Show |
a0021a0023a0039others(6): Show | a0021c0143a0023c0075a0039c0076others(6): Show | a0021c0143t0001a0023c0075t0001a0039c0076t0001others(6): Show | a0021c0143t0001g0012a0023c0075t0001g0137a0039c0076t0001g0126others(6): Show | 9 | 278 | 0.0324 | -5 | c.139 others(24): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16984392 | TAACTC | T | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG01891.hp1 others(11): Show |
a0001a0010a0011others(8): Show | a0001c0013a0010c0004a0011c0091others(9): Show | a0001c0013t0001a0010c0004t0001a0011c0091t0001others(9): Show | a0001c0013t0001g0090a0001c0013t0001g0138a0010c0004t0001g0068others(11): Show | 14 | 278 | 0.0504 | -5 | c.139 others(24): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
CPAMD8_chr19_16887951_17031810 | 16987180 | ATATAT | A | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01099.hp2 others(7): Show |
a0001a0002a0004others(7): Show | a0001c0033a0002c0176a0004c0005others(7): Show | a0001c0033t0002a0002c0176t0001a0004c0005t0002others(7): Show | a0001c0033t0002g0002a0002c0176t0001g0014a0004c0005t0002g0188others(7): Show | 10 | 278 | 0.0360 | -5 | c.139 others(24): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | ||||||
CPB1_chr3_148822811_148865187 | 148834408 | TAACTC | T | intron_variant | MODIFIER | NA18747.hp2 NA18983.hp2 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0001g0180 | 3 | 456 | 0.0066 | -5 | c.148 others(18): Show |
CPB1 | ENSG00000153002.12 | transcript | ENST00000282957.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPB2_chr13_46048186_46110033 | 46056095 | ATATAT | A | intron_variant | MODIFIER | HG02886.hp1 HG03209.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0057a0001c0001t0001g0086 | 3 | 330 | 0.0091 | -5 | c.100 others(22): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 9/10 | chr13 | TogoVar | ||||||
CPB2_chr13_46048186_46110033 | 46102540 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG02965.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0042others(4): Show | 7 | 330 | 0.0212 | -5 | c.74+ others(20): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
CPD_chr17_30373927_30474989 | 30398233 | TAGAAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(149): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(142): Show | 152 | 296 | 0.5135 | -5 | c.994 others(24): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CPEB1_chr15_82538201_82652363 | 82551632 | TAGAAG | T | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02723.hp1 others(2): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0003a0002c0005t0003 | a0002c0002t0003g0007a0002c0002t0003g0017a0002c0002t0003g0080others(2): Show | 5 | 354 | 0.0141 | -5 | c.128 others(22): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 9/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82574722 | CAAAAA | C | intron_variant | MODIFIER | HG01175.hp2 HG03942.hp1 NA18989.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0013 | a0002c0002t0002g0134a0002c0002t0002g0140a0002c0002t0002g0144others(5): Show | 8 | 354 | 0.0226 | -5 | c.272 others(22): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82579918 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG02056.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0002a0002c0002t0003 | a0001c0001t0009g0188a0002c0002t0002g0105a0002c0002t0002g0106others(4): Show | 7 | 354 | 0.0198 | -5 | c.272 others(22): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82590209 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0020a0001c0001t0024 | a0001c0001t0018g0001a0001c0001t0018g0084a0001c0001t0020g0114others(2): Show | 6 | 354 | 0.0170 | -5 | c.272 others(24): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB1_chr15_82538201_82652363 | 82614745 | AGAAAC | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02965.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0030a0002c0003t0031a0002c0003t0032others(1): Show | a0002c0003t0030g0002a0002c0003t0031g0003a0002c0003t0032g0004others(1): Show | 4 | 354 | 0.0113 | -5 | c.271 others(24): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
CPEB2_chr4_14997481_15075151 | 15068906 | CTTTTG | C | 3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02630.hp2 others(2): Show |
a0006 | a0006c0007 | a0006c0007t0008 | a0006c0007t0008g0023a0006c0007t0008g0095a0006c0007t0008g0096others(1): Show | 5 | 288 | 0.0174 | -5 | c.*25 others(16): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 12/12 | 2541 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
CPEB2_chr4_14997481_15075151 | 15068979 | GTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02622.hp1 others(4): Show |
a0010a0018 | a0010c0010a0018c0024 | a0010c0010t0007a0018c0024t0007 | a0010c0010t0007g0012a0010c0010t0007g0101a0010c0010t0007g0102others(3): Show | 7 | 288 | 0.0243 | -5 | c.*26 others(16): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 12/12 | 2604 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
CPEB3_chr10_92041692_92296078 | 92098160 | TAAAAA | T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01257.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0044 | a0001c0002t0002g0001a0001c0002t0002g0019a0001c0002t0002g0021others(6): Show | 10 | 278 | 0.0360 | -5 | c.157 others(24): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 7/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92217206 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG02257.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0005a0001c0001t0011a0001c0001t0013others(2): Show | a0001c0001t0005g0248a0001c0001t0005g0249a0001c0001t0011g0265others(6): Show | 9 | 278 | 0.0324 | -5 | c.100 others(26): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92258626 | ATATAT | A | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG04115.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0041 | a0001c0002t0002g0016a0001c0002t0004g0014a0001c0002t0041g0071 | 3 | 278 | 0.0108 | -5 | c.-11 others(24): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar |