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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBFA2T2_chr20_33485096_33655030 | 33535446 | CCTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0036 | a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 others(11): Show |
14 | 298 | 0.0470 | -3 | c.34+ others(20): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33551539 | TTTG | T | intron_variant | MODIFIER | HG02559.hp1 NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0014 a0001c0001t0015g0015 a0001c0001t0015g0016 |
3 | 298 | 0.0101 | -3 | c.35- others(20): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33609166 | TTAA | T | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 others(1): Show |
4 | 298 | 0.0134 | -3 | c.179 others(20): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33633370 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG02080.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0105 others(7): Show |
10 | 298 | 0.0336 | -3 | c.122 others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33633385 | TAAA | T | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0030a0001c0006t0007a0001c0010t0028 | a0001c0001t0030g0001 a0001c0006t0007g0282 a0001c0010t0028g0132 |
3 | 298 | 0.0101 | -3 | c.122 others(22): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 8/10 | chr20 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33643821 | TATA | T | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01516.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0003g0096 a0001c0001t0003g0145 a0001c0001t0005g0086 others(9): Show |
12 | 298 | 0.0403 | -3 | c.148 others(20): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33652534 | CAAA | C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01106.hp1 others(79): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0159 a0001c0001t0001g0220 a0001c0001t0001g0222 others(79): Show |
82 | 298 | 0.2752 | -3 | c.*78 others(14): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 2505 | chr20 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88906476 | GAAT | G | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(3): Show | a0001c0003t0001g0166 a0001c0003t0001g0204 a0001c0003t0001g0245 others(7): Show |
10 | 284 | 0.0352 | -3 | c.152 others(20): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88926327 | ACCT | A | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0007a0001c0009t0015 | a0001c0001t0001g0013 a0001c0009t0007g0100 a0001c0009t0015g0083 |
3 | 284 | 0.0106 | -3 | c.152 others(22): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88932791 | CAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG01070.hp2 HG01258.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0021 others(19): Show |
22 | 284 | 0.0775 | -3 | c.152 others(22): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67038694 | TGAA | T | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 others(7): Show |
10 | 212 | 0.0472 | -3 | c.282 others(20): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67055357 | CTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0002g0009 others(18): Show |
21 | 212 | 0.0991 | -3 | c.283 others(22): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67064822 | TTTG | T | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0005 a0001c0001t0004g0198 a0001c0001t0004g0199 others(9): Show |
12 | 212 | 0.0566 | -3 | c.283 others(20): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67077320 | TTGA | T | intron_variant | MODIFIER | HG03209.hp2 HG03453.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 a0001c0001t0008g0031 a0001c0001t0008g0035 |
3 | 212 | 0.0142 | -3 | c.400 others(20): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67092698 | CTTT | C | intron_variant | MODIFIER | HG01069.hp2 HG01433.hp2 HG01943.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0001g0106 others(4): Show |
7 | 212 | 0.0330 | -3 | c.496 others(20): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67103267 | ATGT | A | downstream_gene_variant | MODIFIER | HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 a0001c0001t0008g0031 |
2 | 212 | 0.0094 | -3 | c.*44 others(14): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 2210 | chr16 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105653566 | CTTT | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0042 a0001c0001t0001g0066 a0001c0001t0001g0089 others(79): Show |
82 | 380 | 0.2158 | -3 | c.*54 others(14): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 1894 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105660958 | GTCT | G | intron_variant | MODIFIER | NA18942.hp2 NA18950.hp2 NA18970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0312 a0001c0001t0006g0349 a0001c0001t0006g0350 others(3): Show |
6 | 380 | 0.0158 | -3 | c.269 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105683538 | ACTC | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp2 others(85): Show |
a0001a0006a0007others(2): Show | a0001c0002a0001c0004a0001c0012others(4): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0010others(13): Show | a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0191 others(85): Show |
88 | 380 | 0.2316 | -3 | c.220 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 14/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105697958 | CCAA | C | intron_variant | MODIFIER | HG00280.hp2 HG02080.hp2 NA18951.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0287 a0001c0002t0008g0288 a0001c0002t0008g0289 others(11): Show |
14 | 380 | 0.0368 | -3 | c.195 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 12/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105726157 | TTTC | T | intron_variant | MODIFIER | HG00735.hp2 HG02258.hp1 HG02451.hp2 others(5): Show |
a0001a0002 | a0001c0019a0002c0005 | a0001c0019t0027a0002c0005t0014a0002c0005t0020 | a0001c0019t0027g0028 a0002c0005t0014g0002 a0002c0005t0014g0009 others(5): Show |
8 | 380 | 0.0211 | -3 | c.120 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 9/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105731611 | TTTA | T | intron_variant | MODIFIER | HG00735.hp2 HG02258.hp1 HG02451.hp2 others(5): Show |
a0001a0002 | a0001c0019a0002c0005 | a0001c0019t0027a0002c0005t0014a0002c0005t0020 | a0001c0019t0027g0028 a0002c0005t0014g0002 a0002c0005t0014g0009 others(5): Show |
8 | 380 | 0.0211 | -3 | c.120 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 9/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105732222 | CCTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(72): Show |
a0001a0003a0004 | a0001c0001a0001c0013a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0042 others(72): Show |
75 | 380 | 0.1974 | -3 | c.120 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 9/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105742889 | CCTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00733.hp1 HG00741.hp2 others(21): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0022 | a0001c0001t0001a0001c0001t0028a0001c0002t0007others(3): Show | a0001c0001t0001g0062 a0001c0001t0028g0108 a0001c0002t0007g0004 others(21): Show |
24 | 380 | 0.0632 | -3 | c.846 others(20): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 6/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105743635 | CAAT | C | intron_variant | MODIFIER | HG00280.hp2 HG02080.hp2 NA18951.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0287 a0001c0002t0008g0288 a0001c0002t0008g0289 others(11): Show |
14 | 380 | 0.0368 | -3 | c.845 others(20): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 6/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105755016 | CTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0019a0001c0023others(1): Show | a0001c0001t0023a0001c0019t0027a0001c0023t0023others(2): Show | a0001c0001t0023g0304 a0001c0019t0027g0028 a0001c0023t0023g0303 others(7): Show |
10 | 380 | 0.0263 | -3 | c.567 others(20): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105805934 | GAAA | G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01123.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0003a0001c0001t0016a0001c0001t0019others(11): Show | a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0116 others(56): Show |
59 | 380 | 0.1553 | -3 | c.420 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105818788 | TAAG | T | intron_variant | MODIFIER | HG01952.hp2 HG02647.hp2 HG03453.hp2 |
a0001a0006 | a0001c0011a0006c0015 | a0001c0011t0046a0001c0011t0047a0006c0015t0045 | a0001c0011t0046g0379 a0001c0011t0047g0378 a0006c0015t0045g0380 |
3 | 380 | 0.0079 | -3 | c.419 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105821214 | CATT | C | intron_variant | MODIFIER | HG01167.hp2 HG02004.hp1 HG02735.hp2 |
a0001a0009 | a0001c0002a0009c0022 | a0001c0002t0010a0009c0022t0010 | a0001c0002t0010g0005 a0001c0002t0010g0006 a0009c0022t0010g0014 |
3 | 380 | 0.0079 | -3 | c.419 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105829120 | CTGA | C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02451.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0002c0005t0020 | a0001c0001t0004g0217 a0001c0001t0004g0283 a0002c0005t0020g0216 |
3 | 380 | 0.0079 | -3 | c.419 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105829666 | CAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp2 others(32): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0003g0136 a0001c0001t0003g0147 a0001c0001t0003g0159 others(32): Show |
35 | 380 | 0.0921 | -3 | c.419 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105838249 | ATTT | A | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0023a0001c0002t0007others(4): Show | a0001c0001t0001g0042 a0001c0001t0001g0088 a0001c0001t0023g0304 others(8): Show |
11 | 380 | 0.0290 | -3 | c.419 others(22): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105871494 | CAGT | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01123.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0003a0001c0001t0016a0001c0001t0019others(9): Show | a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0116 others(53): Show |
56 | 380 | 0.1474 | -3 | c.-27 others(14): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 2483 | chr3 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44775991 | TAAA | T | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG01884.hp2 others(63): Show |
a0000a0001a0002others(2): Show | a0000c0002a0000c0004a0000c0007others(9): Show | a0000c0002t0001a0000c0004t0001a0000c0007t0001others(9): Show | a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0032 others(54): Show |
66 | 344 | 0.1919 | -3 | c.-19 others(14): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 1898 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44780469 | ATTT | A | intron_variant | MODIFIER | HG02280.hp2 HG03017.hp2 HG03486.hp1 others(6): Show |
a0000a0001a0003 | a0000c0002a0001c0001a0003c0005 | a0000c0002t0001a0001c0001t0001a0003c0005t0001 | a0000c0002t0001g0012 a0000c0002t0001g0013 a0000c0002t0001g0034 others(4): Show |
9 | 344 | 0.0262 | -3 | c.354 others(18): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44799719 | AAAG | A | intron_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG03239.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0054 a0003c0005t0001g0115 a0003c0005t0001g0118 |
3 | 344 | 0.0087 | -3 | c.136 others(20): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44799807 | AAGG | A | intron_variant | MODIFIER | HG02071.hp1 HG02523.hp2 HG03834.hp2 others(10): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0001a0001c0001t0001 | a0000c0002t0001g0034 a0000c0002t0001g0044 a0000c0002t0001g0127 others(10): Show |
13 | 344 | 0.0378 | -3 | c.136 others(20): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLL1_chr7_107739142_107766667 | 107748507 | CCTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(126): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0078 a0001c0001t0002g0002 a0001c0001t0002g0006 others(25): Show |
129 | 432 | 0.2986 | -3 | c.14- others(16): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CBLL2_chrX_22267913_22279461 | 22267927 | GAAA | G | upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 346 | 0.0029 | -3 | c.-50 others(14): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 4985 | chrX | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22271143 | GAAA | G | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02293.hp1 others(8): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0000 a0002c0004t0001g0000 |
11 | 346 | 0.0318 | -3 | c.-18 others(14): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 1769 | chrX | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22271960 | GTTT | G | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 1 | 346 | 0.0029 | -3 | c.-10 others(14): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22273806 | CTCA | C | conservative_inframe_deletion | MODERATE | HG00438.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0000 | 1 | 346 | 0.0029 | -3 | c.820 others(10): Show |
p.His others(6): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 1/1 | 899/1549 | 820/1278 | 274/425 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
CBLL2_chrX_22267913_22279461 | 22277365 | GAAA | G | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01884.hp2 others(19): Show |
a0002a0003a0008 | a0002c0002a0002c0003a0002c0004others(2): Show | a0002c0002t0001a0002c0003t0001a0002c0004t0001others(2): Show | a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0004t0001g0000 others(2): Show |
22 | 346 | 0.0636 | -3 | c.*30 others(14): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 2905 | chrX | TogoVar | |||||||
CBLN1_chr16_49272917_49286838 | 49279978 | AAAC | A | intron_variant | MODIFIER | HG02486.hp2 HG03486.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 3 | 396 | 0.0076 | -3 | c.385 others(18): Show |
CBLN1 | ENSG00000102924.13 | transcript | ENST00000219197.11 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
CBLN4_chr20_55992357_56010519 | 55995352 | ATTT | A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG02132.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0013 others(5): Show |
11 | 426 | 0.0258 | -3 | c.*32 others(14): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 2004 | chr20 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119206289 | CCGG | C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02723.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0008a0001c0001t0010a0001c0001t0046others(1): Show | a0001c0001t0008g0342 a0001c0001t0008g0343 a0001c0001t0008g0344 others(4): Show |
7 | 364 | 0.0192 | -3 | c.-12 others(12): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 49 | chr11 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119213944 | TTTC | T | intron_variant | MODIFIER | HG01081.hp1 HG01192.hp2 HG01257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0038a0001c0001t0039others(3): Show | a0001c0001t0003g0062 a0001c0001t0003g0104 a0001c0001t0003g0105 others(11): Show |
14 | 364 | 0.0385 | -3 | c.195 others(20): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119223184 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(103): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0155 a0001c0001t0001g0198 a0001c0001t0001g0199 others(103): Show |
106 | 364 | 0.2912 | -3 | c.196 others(20): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119245956 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(58): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(58): Show |
61 | 364 | 0.1676 | -3 | c.443 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119253988 | CAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01099.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0228 others(8): Show |
11 | 364 | 0.0302 | -3 | c.444 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |