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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAV1_chr7_116520036_116566179 | 116562888 | AAGAGGAA others(5): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0018 | 1 | 342 | 0.0029 | -12 | c.*36 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1710 | chr7 | TogoVar | |||||||
CAV1_chr7_116520036_116566179 | 116562928 | AAGAGAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 342 | 0.0029 | -12 | c.*36 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1750 | chr7 | TogoVar | |||||||
CAV2_chr7_116494738_116513541 | 116503886 | AGAGGGAG others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031 | 1 | 374 | 0.0027 | -12 | c.339 others(29): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42410892 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01952.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0024 a0001c0001t0002g0243 a0001c0001t0002g0254 others(11): Show |
15 | 338 | 0.0444 | -12 | c.472 others(29): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42413566 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 338 | 0.0030 | -12 | c.472 others(29): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN3_chr11_6313946_6325501 | 6322867 | GTACTTGC others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0004 | 1 | 426 | 0.0024 | -12 | c.-24 others(23): Show |
CAVIN3 | ENSG00000170955.10 | transcript | ENST00000303927.4 | protein_coding | 2367 | chr11 | TogoVar | |||||||
CAVIN4_chr9_100573079_100593389 | 100583616 | TATTCATT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(58): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0020others(1): Show | a0001c0001t0001g0064 a0001c0003t0002g0002 a0001c0003t0002g0018 others(10): Show |
61 | 382 | 0.1597 | -12 | c.409 others(29): Show |
CAVIN4 | ENSG00000170681.7 | transcript | ENST00000307584.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33494232 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0282 | 1 | 298 | 0.0034 | -12 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33494243 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012 | 1 | 298 | 0.0034 | -12 | c.34+ others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33514206 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 298 | 0.0034 | -12 | c.34+ others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33529743 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(165): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(29): Show | a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0234 others(165): Show |
168 | 298 | 0.5638 | -12 | c.34+ others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33529771 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0273 | 1 | 298 | 0.0034 | -12 | c.34+ others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33538064 | GCTGACGT others(5): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012 | 1 | 298 | 0.0034 | -12 | c.34+ others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33544945 | CAGAATAG others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0140 | 1 | 298 | 0.0034 | -12 | c.34+ others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33545439 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 298 | 0.0034 | -12 | c.34+ others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33547687 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01123.hp1 NA20805.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0178 a0001c0002t0002g0180 |
2 | 298 | 0.0067 | -12 | c.34+ others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33548974 | GTCCATCC others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG03471.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0026 | a0001c0001t0013g0197 a0001c0001t0013g0199 a0001c0001t0013g0212 others(1): Show |
4 | 298 | 0.0134 | -12 | c.35- others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33591467 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01070.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0031others(2): Show | a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 others(32): Show |
35 | 298 | 0.1175 | -12 | c.35- others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33616078 | GAGATAGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG02809.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0004a0001c0002t0002a0001c0011t0028 | a0001c0001t0004g0030 a0001c0002t0002g0177 a0001c0011t0028g0132 |
3 | 298 | 0.0101 | -12 | c.421 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642106 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0293 | 1 | 298 | 0.0034 | -12 | c.148 others(31): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642108 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02886.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0015a0002c0009t0029 | a0001c0001t0015g0015 a0002c0009t0029g0283 |
2 | 298 | 0.0067 | -12 | c.148 others(31): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642110 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG02273.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0021g0265 others(1): Show |
4 | 298 | 0.0134 | -12 | c.148 others(31): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642112 | TTTTTTGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01169.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0003g0073 a0001c0001t0003g0090 a0001c0001t0003g0109 others(11): Show |
14 | 298 | 0.0470 | -12 | c.148 others(31): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642114 | TTTTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp1 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0077 a0001c0001t0003g0087 a0001c0001t0003g0089 others(29): Show |
32 | 298 | 0.1074 | -12 | c.148 others(31): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642116 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG02300.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006 | a0001c0001t0003g0097 a0001c0001t0003g0119 a0001c0001t0003g0122 others(8): Show |
11 | 298 | 0.0369 | -12 | c.148 others(31): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33643753 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG02572.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0002 | a0001c0001t0007g0012 a0001c0002t0002g0183 |
2 | 298 | 0.0067 | -12 | c.148 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33643825 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0162 a0001c0001t0012g0163 a0001c0001t0012g0164 others(1): Show |
4 | 298 | 0.0134 | -12 | c.148 others(29): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88887803 | AAGTTCTG others(5): Show |
A | intron_variant | MODIFIER | NA18950.hp1 NA19004.hp2 NA19005.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0001a0001c0003t0004 | a0001c0001t0004g0074 a0001c0003t0001g0203 a0001c0003t0004g0198 others(1): Show |
4 | 284 | 0.0141 | -12 | c.712 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88894218 | GCACACAT others(5): Show |
G | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 284 | 0.0035 | -12 | c.380 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88894324 | ACACACAT others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02630.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0137 a0001c0001t0001g0257 a0001c0001t0033g0116 |
3 | 284 | 0.0106 | -12 | c.380 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88894382 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 284 | 0.0035 | -12 | c.380 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88903679 | GGGGGGCA others(5): Show |
G | intron_variant | MODIFIER | HG03195.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0030 | a0001c0001t0001a0001c0030t0005 | a0001c0001t0001g0179 a0001c0030t0005g0069 |
2 | 284 | 0.0070 | -12 | c.152 others(29): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88914643 | AGCCATCA others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02109.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0025a0001c0003t0001others(7): Show | a0001c0001t0001g0103 a0001c0001t0001g0162 a0001c0001t0025g0099 others(10): Show |
13 | 284 | 0.0458 | -12 | c.152 others(31): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88931087 | GCCAGGGA others(5): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 284 | 0.0035 | -12 | c.152 others(31): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88943031 | GGCACAGT others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02723.hp1 |
a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0281 a0001c0010t0002g0282 |
2 | 284 | 0.0070 | -12 | c.151 others(31): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88964909 | TATCCATC others(5): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01099.hp2 others(35): Show |
a0001a0004a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0016others(11): Show | a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0038 others(35): Show |
38 | 284 | 0.1338 | -12 | c.151 others(31): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88980771 | ATGGGTGG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0283 | 1 | 284 | 0.0035 | -12 | c.-39 others(23): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3565 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67028189 | TAAAAAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0196 | 1 | 212 | 0.0047 | -12 | c.-12 others(23): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 959 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67085152 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 212 | 0.0047 | -12 | c.495 others(29): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67102119 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0051 | 1 | 212 | 0.0047 | -12 | c.*33 others(23): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 1062 | chr16 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105665412 | AATAAATA others(5): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 others(3): Show |
6 | 380 | 0.0158 | -12 | c.268 others(31): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105665434 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02572.hp2 HG02896.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0003a0001c0003t0005a0001c0007t0013others(2): Show | a0001c0001t0003g0154 a0001c0003t0005g0305 a0001c0003t0005g0306 others(8): Show |
11 | 380 | 0.0290 | -12 | c.268 others(31): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754493 | AAGAGAGA others(5): Show |
A | intron_variant | MODIFIER | HG02080.hp2 NA18951.hp2 NA18967.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0287 a0001c0002t0008g0288 a0001c0002t0008g0289 others(5): Show |
8 | 380 | 0.0211 | -12 | c.567 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754511 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01361.hp1 HG01943.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0037 | a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0119 others(5): Show |
8 | 380 | 0.0211 | -12 | c.567 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754523 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG02622.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0031 | a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0153 others(2): Show |
5 | 380 | 0.0132 | -12 | c.567 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105779504 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0373 a0001c0007t0013g0374 a0001c0007t0013g0375 others(2): Show |
5 | 380 | 0.0132 | -12 | c.420 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105780647 | AGTTTTGT others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 380 | 0.0026 | -12 | c.420 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105847392 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0342 | 1 | 380 | 0.0026 | -12 | c.419 others(29): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44784950 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA18960.hp1 NA18995.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0266 a0003c0003t0001g0082 |
2 | 344 | 0.0058 | -12 | c.917 others(27): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44785532 | GTAGATAG others(5): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01884.hp1 others(11): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0254 others(11): Show |
14 | 344 | 0.0407 | -12 | c.917 others(29): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |