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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPA6_chr8_67417038_67751360 | 67468581 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01167.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0033 a0001c0001t0001g0098 a0001c0001t0001g0113 others(9): Show |
12 | 53 | 0.2264 | -15 | c.838 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67475789 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG02055.hp1 others(14): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0002c0002t0001a0005c0004t0001 | a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0046 others(14): Show |
17 | 120 | 0.1417 | -15 | c.838 others(32): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67475907 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG03225.hp2 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0126 a0002c0002t0001g0023 |
2 | 142 | 0.0141 | -15 | c.838 others(32): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67565933 | GGGAAACA others(8): Show |
G | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 142 | 0.0070 | -15 | c.193 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67607169 | CTCTTCTT others(8): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03225.hp1 NA18981.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0087 others(2): Show |
5 | 43 | 0.1163 | -15 | c.192 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67610021 | CAACAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 48 | 0.0208 | -15 | c.192 others(34): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67634179 | AATTATTA others(8): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 51 | 0.0196 | -15 | c.117 others(32): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16906351 | TTTCTTTC others(8): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0073 | a0073c0054 | a0073c0054t0001 | a0073c0054t0001g0003 | 1 | 276 | 0.0036 | -15 | c.402 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 30/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16938154 | TGTATTCA others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0064 | a0064c0068 | a0064c0068t0002 | a0064c0068t0002g0159 | 1 | 276 | 0.0036 | -15 | c.284 others(32): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 23/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16948868 | AAAGGGAA others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02145.hp1 others(9): Show |
a0001a0007a0024others(7): Show | a0001c0013a0007c0053a0024c0011others(7): Show | a0001c0013t0001a0007c0053t0001a0024c0011t0001others(7): Show | a0001c0013t0001g0138 a0007c0053t0001g0156 a0024c0011t0001g0018 others(9): Show |
12 | 91 | 0.1319 | -15 | c.250 others(34): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 20/41 | chr19 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16987166 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0042 | 1 | 271 | 0.0037 | -15 | c.139 others(34): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 13/41 | chr19 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82574722 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02572.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0014a0001c0001t0025 | a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0008g0230 others(9): Show |
12 | 78 | 0.1538 | -15 | c.272 others(32): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
CPEB2_chr4_14997481_15075151 | 15003704 | GCCCGGAC others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG01433.hp2 HG02523.hp1 NA18972.hp2 others(2): Show |
a0012 | a0012c0014 | a0012c0014t0004 | a0012c0014t0004g0003 a0012c0014t0004g0034 a0012c0014t0004g0171 |
5 | 286 | 0.0175 | -15 | c.103 others(24): Show |
p.Asp others(13): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 1/12 | 1230/7069 | 1037/3105 | 346/1034 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
CPEB3_chr10_92041692_92296078 | 92098160 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp2 HG02922.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0013a0001c0001t0019a0003c0005t0013 | a0001c0001t0013g0268 a0001c0001t0013g0274 a0001c0001t0019g0255 others(2): Show |
5 | 17 | 0.2941 | -15 | c.157 others(34): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92190665 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00639.hp2 others(116): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0002g0006 a0001c0001t0002g0134 a0001c0001t0002g0135 others(115): Show |
119 | 148 | 0.8041 | -15 | c.116 others(34): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92258626 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0053 | 1 | 158 | 0.0063 | -15 | c.-11 others(34): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPEB3_chr10_92041692_92296078 | 92280343 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18962.hp2 NA18999.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034 a0001c0002t0003g0093 |
2 | 89 | 0.0225 | -15 | c.-12 others(34): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
CPEB4_chr5_173883349_173966980 | 173905004 | TAATAATA others(8): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0018 | a0001c0001t0002g0248 a0001c0002t0018g0013 |
3 | 370 | 0.0081 | -15 | c.112 others(34): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CPEB4_chr5_173883349_173966980 | 173962076 | TTTTTATT others(8): Show |
T | downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0190 | 1 | 362 | 0.0028 | -15 | c.*59 others(26): Show |
CPEB4 | ENSG00000113742.14 | transcript | ENST00000265085.10 | protein_coding | 97 | chr5 | TogoVar | |||||||
CPED1_chr7_120983711_121302442 | 121047646 | TTTCTTCT others(8): Show |
T | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0066 | 1 | 20 | 0.0500 | -15 | c.540 others(30): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121047703 | CTTCTTCT others(8): Show |
C | intron_variant | MODIFIER | HG00558.hp1 NA18952.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0019 a0002c0002t0003g0020 |
2 | 138 | 0.0145 | -15 | c.540 others(30): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165417461 | AATAGACT others(8): Show |
A | intron_variant | MODIFIER | HG03654.hp1 HG03704.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0142 |
3 | 330 | 0.0091 | -15 | c.307 others(34): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
CPHXL_chr16_75709131_75731490 | 75719546 | AGCCTGGA others(8): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03209.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0111 |
3 | 386 | 0.0078 | -15 | c.26- others(30): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CPHXL_chr16_75709131_75731490 | 75725753 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG02602.hp2 HG02698.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0126 |
3 | 79 | 0.0380 | -15 | c.25+ others(28): Show |
CPHXL | ENSG00000283755.2 | transcript | ENST00000640559.2 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 817707 | CCGCCCCC others(8): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0124 | 1 | 414 | 0.0024 | -15 | c.31+ others(30): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
CPN2_chr3_194334768_194356328 | 194349778 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02280.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0005a0002c0001others(5): Show | a0001c0002t0003a0001c0005t0006a0002c0001t0001others(5): Show | a0001c0002t0003g0103 a0001c0005t0006g0022 a0002c0001t0001g0032 others(7): Show |
12 | 67 | 0.1791 | -15 | c.-4+ others(30): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
CPNE2_chr16_57087583_57153369 | 57124063 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 355 | 0.0028 | -15 | c.927 others(30): Show |
CPNE2 | ENSG00000140848.17 | transcript | ENST00000290776.13 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131547487 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0002 | a0001c0002t0001g0058 a0001c0004t0002g0081 |
2 | 92 | 0.0217 | -15 | c.130 others(34): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 14/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131676029 | CTATTATT others(8): Show |
C | intron_variant | MODIFIER | HG02735.hp2 NA18939.hp1 NA18946.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0003g0024 others(4): Show |
7 | 14 | 0.5000 | -15 | c.592 others(32): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131814572 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0040 | 1 | 10 | 0.1000 | -15 | c.180 others(34): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131958609 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 8 | 0.1250 | -15 | c.-1- others(32): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131958970 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0094 | 1 | 67 | 0.0149 | -15 | c.-1- others(32): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CPNE5_chr6_36735775_36844444 | 36842147 | AAAAAAAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02071.hp1 NA18747.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0376 a0001c0001t0003g0379 a0001c0001t0008g0377 others(1): Show |
4 | 378 | 0.0106 | -15 | c.-27 others(26): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 2704 | chr6 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587958 | ACCCACAG others(8): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01071.hp2 HG02109.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0097 a0001c0001t0001g0213 others(8): Show |
11 | 323 | 0.0341 | -15 | c.928 others(30): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588076 | ACCCACAG others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(34): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0086 others(34): Show |
37 | 346 | 0.1069 | -15 | c.928 others(30): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89601600 | TCCCGAGT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 346 | 0.0029 | -15 | c.*49 others(26): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 4355 | chr16 | TogoVar | |||||||
CPNE9_chr3_9698833_9734908 | 9713523 | ATGAATGA others(8): Show |
A | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 438 | 0.0023 | -15 | c.650 others(30): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 10/20 | chr3 | TogoVar | |||||||
CPNE9_chr3_9698833_9734908 | 9715898 | CCCTATGG others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00741.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0052 a0001c0001t0001g0056 others(46): Show |
50 | 438 | 0.1142 | -15 | c.823 others(28): Show |
CPNE9 | ENSG00000144550.14 | transcript | ENST00000383832.8 | protein_coding | 13/20 | chr3 | TogoVar | |||||||
CPO_chr2_206934518_206974474 | 206970662 | AATAATTG others(8): Show |
A | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0220 | 1 | 420 | 0.0024 | -15 | c.*12 others(26): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 1189 | chr2 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12734058 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG02683.hp1 HG03491.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0014others(1): Show | a0001c0001t0003g0205 a0002c0002t0001g0020 a0002c0002t0014g0001 others(1): Show |
5 | 66 | 0.0758 | -15 | c.290 others(34): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96757354 | GATAATAA others(8): Show |
G | intron_variant | MODIFIER | HG03516.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0028 a0001c0007t0001g0038 |
2 | 24 | 0.0833 | -15 | c.-34 others(34): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 96991553 | CATAATAA others(8): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02273.hp2 HG03017.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0002a0004c0006t0001 | a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0002t0002g0004 others(1): Show |
4 | 22 | 0.1818 | -15 | c.961 others(34): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPQ_chr8_96640242_97148501 | 97122917 | TAAAATAA others(8): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 87 | 0.0115 | -15 | c.125 others(36): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99446771 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 | 1 | 96 | 0.0104 | -15 | c.155 others(32): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPT1A_chr11_68749883_68846916 | 68750768 | ACAGCCAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(169): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 others(168): Show |
172 | 233 | 0.7382 | -15 | c.*68 others(26): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 4114 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68750932 | TAGGTGAG others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02922.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0014a0001c0001t0018others(5): Show | a0001c0001t0004g0128 a0001c0001t0014g0106 a0001c0001t0014g0138 others(10): Show |
13 | 232 | 0.0560 | -15 | c.*66 others(26): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 3950 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68803712 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0045 others(33): Show |
36 | 146 | 0.2466 | -15 | c.555 others(30): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 5/18 | chr11 | TogoVar | |||||||
CPT1C_chr19_49686116_49718731 | 49694080 | AAAATAAA others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 334 | 0.0030 | -15 | c.141 others(32): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49699457 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 86 | 0.0116 | -15 | c.282 others(32): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49702414 | TCAAGACC others(8): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 348 | 0.0029 | -15 | c.693 others(30): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |