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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COPG2_chr7_130501238_130673748 | 130506318 | TCCCCCCC | T | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01261.hp2 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0070 a0001c0002t0003g0081 a0001c0002t0003g0088 others(17): Show |
20 | 301 | 0.0664 | -7 | c.*35 others(16): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 24/24 | 351 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130644141 | TAAAACAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(88): Show |
a0001a0010 | a0001c0001a0001c0006a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0002g0026 others(88): Show |
91 | 324 | 0.2809 | -7 | c.323 others(24): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
COPS3_chr17_17241616_17286246 | 17255299 | CAAAACAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 others(43): Show |
59 | 350 | 0.1686 | -7 | c.937 others(22): Show |
COPS3 | ENSG00000141030.13 | transcript | ENST00000268717.10 | protein_coding | 8/11 | chr17 | TogoVar | |||||||
COPS7A_chr12_6719046_6736865 | 6733427 | ATTGTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(403): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(86): Show |
406 | 470 | 0.8638 | -7 | c.*23 others(18): Show |
COPS7A | ENSG00000111652.10 | transcript | ENST00000543155.6 | protein_coding | 1563 | chr12 | TogoVar | |||||||
COQ6_chr14_73945302_73968670 | 73956653 | ATCCACTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(137): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0002c0004others(3): Show | a0001c0001t0003a0002c0003t0001a0002c0003t0003others(4): Show | a0001c0001t0003g0108 a0002c0003t0001g0006 a0002c0003t0001g0011 others(64): Show |
140 | 454 | 0.3084 | -7 | c.481 others(22): Show |
COQ6 | ENSG00000119723.17 | transcript | ENST00000334571.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COQ6_chr14_73945302_73968670 | 73965268 | AGAGGATG | A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0111 a0001c0001t0001g0190 |
7 | 454 | 0.0154 | -7 | c.*22 others(18): Show |
COQ6 | ENSG00000119723.17 | transcript | ENST00000334571.7 | protein_coding | 1599 | chr14 | TogoVar | |||||||
COQ8B_chr19_40686530_40721886 | 40695873 | CTATTATT | C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01175.hp2 others(24): Show |
a0001a0002a0013 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(6): Show | a0001c0002t0001g0005 a0001c0002t0001g0077 a0001c0002t0001g0080 others(21): Show |
27 | 408 | 0.0662 | -7 | c.120 others(24): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 13/14 | chr19 | TogoVar | |||||||
COQ8B_chr19_40686530_40721886 | 40714149 | AAGGTCTG | A | intron_variant | MODIFIER | HG02723.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0030 a0002c0008t0001g0228 a0002c0008t0001g0278 |
4 | 408 | 0.0098 | -7 | c.223 others(20): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
CORO1A_chr16_30178602_30194076 | 30190395 | TTATAATA | T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01243.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0024 |
5 | 340 | 0.0147 | -7 | c.*14 others(18): Show |
CORO1A | ENSG00000102879.17 | transcript | ENST00000219150.10 | protein_coding | 1320 | chr16 | TogoVar | |||||||
CORO1A_chr16_30178602_30194076 | 30190400 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01123.hp1 HG02055.hp2 others(51): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
54 | 333 | 0.1622 | -7 | c.*14 others(18): Show |
CORO1A | ENSG00000102879.17 | transcript | ENST00000219150.10 | protein_coding | 1325 | chr16 | TogoVar | |||||||
CORO1B_chr11_67430510_67448476 | 67443960 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02818.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0012 a0001c0001t0008g0013 a0001c0001t0008g0022 |
7 | 279 | 0.0251 | -7 | c.-56 others(16): Show |
CORO1B | ENSG00000172725.14 | transcript | ENST00000341356.10 | protein_coding | 485 | chr11 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98119787 | TTTGTTTG | T | downstream_gene_variant | MODIFIER | HG02451.hp1 HG03139.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 a0001c0001t0003g0282 a0001c0001t0003g0287 others(3): Show |
6 | 335 | 0.0179 | -7 | c.*49 others(18): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1187 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98119802 | GTTTTTGT | G | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03942.hp1 HG04184.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0028others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0203 a0001c0001t0004g0067 others(4): Show |
7 | 198 | 0.0354 | -7 | c.*49 others(18): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1172 | chr9 | TogoVar | |||||||
COTL1_chr16_84560596_84623078 | 84581978 | CTTTTTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02109.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0084 others(19): Show |
22 | 170 | 0.1294 | -7 | c.318 others(24): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
COTL1_chr16_84560596_84623078 | 84610870 | CATCTTCA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(150): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0032 others(146): Show |
153 | 438 | 0.3493 | -7 | c.160 others(24): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
COX11_chr17_54955422_54973654 | 54964531 | CTTTAACT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0023 others(13): Show |
46 | 434 | 0.1060 | -7 | c.522 others(22): Show |
COX11 | ENSG00000166260.13 | transcript | ENST00000299335.8 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
COX16_chr14_70320081_70364683 | 70325680 | GGATTTAC | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(120): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0010 others(89): Show |
123 | 374 | 0.3289 | -7 | c.*64 others(16): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 4/4 | 646 | chr14 | TogoVar | ||||||
COX16_chr14_70320081_70364683 | 70328072 | ATTTTTTT | A | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01069.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0132 a0001c0001t0002g0188 a0001c0001t0003g0020 others(3): Show |
8 | 44 | 0.1818 | -7 | c.204 others(24): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
COX17_chr3_119664532_119682406 | 119677018 | CGGGGCGG | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(175): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(27): Show |
178 | 395 | 0.4506 | -7 | c.107 others(22): Show |
COX17 | ENSG00000138495.7 | transcript | ENST00000261070.7 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
COX17_chr3_119664532_119682406 | 119677089 | AGGCAGAG | A | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02055.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0044 |
5 | 413 | 0.0121 | -7 | c.107 others(22): Show |
COX17 | ENSG00000138495.7 | transcript | ENST00000261070.7 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
COX6B1_chr19_35643323_35663782 | 35647250 | GAAAAAAA | G | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02257.hp2 HG02698.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0033 a0001c0001t0001g0063 a0001c0001t0001g0064 others(7): Show |
13 | 70 | 0.1857 | -7 | c.-11 others(18): Show |
COX6B1 | ENSG00000126267.11 | transcript | ENST00000649813.2 | protein_coding | 1072 | chr19 | TogoVar | |||||||
COX6B1_chr19_35643323_35663782 | 35659412 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02257.hp2 HG02451.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0034 others(7): Show |
18 | 365 | 0.0493 | -7 | c.*76 others(16): Show |
COX6B1 | ENSG00000126267.11 | transcript | ENST00000649813.2 | protein_coding | 631 | chr19 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46763011 | TTATAATA | T | intron_variant | MODIFIER | NA18950.hp2 NA18952.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0292 |
3 | 298 | 0.0101 | -7 | c.-49 others(26): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46790473 | TTTATTAC | T | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0281 a0001c0001t0002g0074 a0001c0001t0003g0097 others(3): Show |
6 | 298 | 0.0201 | -7 | c.-50 others(26): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B_chrX_77894468_77912376 | 77907783 | GGAAAGTC | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02559.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0004g0001 a0001c0001t0004g0009 a0001c0001t0005g0008 others(11): Show |
25 | 292 | 0.0856 | -7 | c.*25 others(18): Show |
COX7B | ENSG00000131174.7 | transcript | ENST00000650309.2 | protein_coding | 408 | chrX | TogoVar | |||||||
COX8A_chr11_63969620_63981543 | 63972855 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG02015.hp1 NA18956.hp2 NA18959.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 6 | 226 | 0.0265 | -7 | c.-18 others(18): Show |
COX8A | ENSG00000176340.4 | transcript | ENST00000314133.4 | protein_coding | 1764 | chr11 | TogoVar | |||||||
CPA1_chr7_130375494_130393108 | 130389406 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01256.hp1 HG01256.hp2 others(8): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(6): Show |
11 | 41 | 0.2683 | -7 | c.*13 others(18): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 1299 | chr7 | TogoVar | |||||||
CPA2_chr7_130261863_130294798 | 130285990 | CTCAAAAA | C | intron_variant | MODIFIER | HG02135.hp2 HG03654.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0153 |
3 | 309 | 0.0097 | -7 | c.107 others(26): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 10/10 | chr7 | TogoVar | |||||||
CPA2_chr7_130261863_130294798 | 130285992 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(116): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0004 | a0001c0001t0001a0002c0003t0001a0004c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(39): Show |
119 | 301 | 0.3953 | -7 | c.107 others(26): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67475785 | CTTTCTTT | C | intron_variant | MODIFIER | HG02129.hp2 HG02258.hp2 HG03130.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0112 a0002c0002t0001g0065 a0004c0005t0001g0031 |
3 | 118 | 0.0254 | -7 | c.838 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67475836 | TTTCTTTC | T | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0022 |
3 | 135 | 0.0222 | -7 | c.838 others(24): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67495153 | CTTTCCTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02055.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0114 others(7): Show |
10 | 142 | 0.0704 | -7 | c.637 others(26): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 6/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67733218 | AAAAAAAT | A | intron_variant | MODIFIER | HG01891.hp1 HG02056.hp1 HG02135.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0120 others(5): Show |
8 | 142 | 0.0563 | -7 | c.116 others(26): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16958088 | GGTTAACA | G | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG03195.hp1 others(2): Show |
a0001a0002a0017others(1): Show | a0001c0013a0002c0019a0017c0116others(1): Show | a0001c0013t0001a0002c0019t0001a0017c0116t0001others(1): Show | a0001c0013t0001g0090 a0002c0019t0001g0008 a0002c0019t0001g0139 others(2): Show |
5 | 276 | 0.0181 | -7 | c.221 others(24): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 18/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16987178 | AAATATAT | A | intron_variant | MODIFIER | HG00609.hp2 HG01070.hp1 HG01993.hp1 others(7): Show |
a0001a0009a0011others(4): Show | a0001c0001a0009c0004a0011c0012others(6): Show | a0001c0001t0002a0009c0004t0001a0011c0012t0002others(6): Show | a0001c0001t0002g0048 a0009c0004t0001g0088 a0011c0012t0002g0209 others(7): Show |
10 | 269 | 0.0372 | -7 | c.139 others(26): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16987180 | ATATATAT | A | intron_variant | MODIFIER | HG01071.hp2 HG01167.hp1 HG01169.hp2 others(7): Show |
a0001a0007a0009others(4): Show | a0001c0001a0007c0016a0007c0052others(6): Show | a0001c0001t0002a0007c0016t0001a0007c0052t0002others(6): Show | a0001c0001t0002g0185 a0007c0016t0001g0123 a0007c0016t0001g0124 others(7): Show |
10 | 258 | 0.0388 | -7 | c.139 others(26): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82574722 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02818.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0148 a0002c0002t0002g0149 others(4): Show |
8 | 74 | 0.1081 | -7 | c.272 others(24): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82579918 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00735.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0004a0001c0001t0013a0001c0001t0026others(11): Show | a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 others(36): Show |
39 | 51 | 0.7647 | -7 | c.272 others(24): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92123389 | GCAAGGAC | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(196): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0108 a0001c0001t0002g0002 a0001c0001t0002g0003 others(195): Show |
199 | 276 | 0.7210 | -7 | c.145 others(28): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 6/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92139582 | AAAAACAT | A | intron_variant | MODIFIER | HG02258.hp1 HG03516.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0007g0241 others(1): Show |
4 | 276 | 0.0145 | -7 | c.145 others(26): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 6/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92258626 | ATATATAT | A | intron_variant | MODIFIER | HG02280.hp1 HG02300.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0013a0001c0002t0007a0001c0004t0011others(1): Show | a0001c0001t0013g0268 a0001c0001t0013g0274 a0001c0002t0007g0018 others(3): Show |
6 | 163 | 0.0368 | -7 | c.-11 others(26): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPED1_chr7_120983711_121302442 | 121044650 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01074.hp1 others(14): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(7): Show | a0001c0001t0001g0056 a0001c0001t0002g0033 a0001c0001t0002g0034 others(14): Show |
17 | 37 | 0.4595 | -7 | c.434 others(24): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121088763 | CAAAAAAA | C | intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01496.hp1 others(12): Show |
a0001a0002a0003 | a0001c0003a0002c0004a0003c0005 | a0001c0003t0001a0001c0003t0002a0001c0003t0008others(3): Show | a0001c0003t0001g0038 a0001c0003t0001g0081 a0001c0003t0001g0135 others(12): Show |
15 | 26 | 0.5769 | -7 | c.617 others(24): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121101674 | GAACCAGC | G | intron_variant | MODIFIER | HG03041.hp2 HG03453.hp1 |
a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0017 a0003c0005t0003g0018 |
2 | 138 | 0.0145 | -7 | c.918 others(24): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121167725 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp1 others(42): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0001g0043 a0002c0002t0001g0036 a0002c0002t0001g0070 others(42): Show |
45 | 62 | 0.7258 | -7 | c.205 others(28): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165440461 | CCCACACA | C | intron_variant | MODIFIER | HG01928.hp1 HG02080.hp2 HG02148.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0091 a0001c0001t0001g0148 a0001c0001t0001g0197 others(13): Show |
16 | 330 | 0.0485 | -7 | c.308 others(26): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPHXL2_chr16_75655227_75682009 | 75662796 | CTTTTTTT | C | intron_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG01975.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0062 others(9): Show |
15 | 209 | 0.0718 | -7 | c.208 others(24): Show |
CPHXL2 | ENSG00000284484.1 | transcript | ENST00000640173.1 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
CPHXL2_chr16_75655227_75682009 | 75663885 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp2 HG01258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0059 a0001c0001t0001g0115 others(7): Show |
11 | 127 | 0.0866 | -7 | c.208 others(24): Show |
CPHXL2 | ENSG00000284484.1 | transcript | ENST00000640173.1 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
CPHXL_chr16_75709131_75731490 | 75725753 | CTTTTTTT | C | intron_variant | MODIFIER | NA18950.hp2 NA18964.hp1 NA18972.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0038 |
6 | 82 | 0.0732 | -7 | c.25+ others(20): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CPLANE1_chr5_37101235_37254376 | 37199096 | CAAAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(5): Show |
a0007a0024 | a0007c0007a0024c0021 | a0007c0007t0003a0024c0021t0003 | a0007c0007t0003g0040 a0007c0007t0003g0041 a0007c0007t0003g0042 others(5): Show |
8 | 135 | 0.0593 | -7 | c.350 others(24): Show |
CPLANE1 | ENSG00000197603.16 | transcript | ENST00000651892.2 | protein_coding | 19/52 | chr5 | TogoVar |