| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CASTOR2_chr7_74959705_75036528 | 74960706 | ATATATAT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0120 | 1 | 228 | 0.0044 | -11 | c.-42 others(22): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 3998 | chr7 | TogoVar | ||||||
| CASTOR2_chr7_74959705_75036528 | 74981113 | GGTCCTGC others(4): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0120 | 1 | 228 | 0.0044 | -11 | c.113 others(30): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CASTOR2_chr7_74959705_75036528 | 74999601 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0118 | 2 | 228 | 0.0088 | -11 | c.114 others(28): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAST_chr5_96657376_96779683 | 96672706 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0239a0002c0003t0001g0240 | 2 | 358 | 0.0056 | -11 | c.76- others(26): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAST_chr5_96657376_96779683 | 96680372 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0112 | 1 | 358 | 0.0028 | -11 | c.138 others(28): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CAST_chr5_96657376_96779683 | 96752551 | TAACCTCA others(4): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02886.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0013 | a0001c0001t0002a0001c0002t0002a0002c0013t0001 | a0001c0001t0002g0034a0001c0002t0002g0301a0002c0013t0001g0191 | 3 | 358 | 0.0084 | -11 | c.152 others(30): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | chr5 | TogoVar | ||||||
| CASZ1_chr1_10631604_10801646 | 10791034 | GATGTGCC others(4): Show |
G | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0023 | a0001c0023t0053 | a0001c0023t0053g0131 | 1 | 236 | 0.0042 | -11 | c.-23 others(30): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
| CATSPER1_chr11_66011752_66031479 | 66024271 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 2 | 408 | 0.0049 | -11 | c.121 others(28): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91578236 | GCCCCCCC others(4): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(193): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(193): Show | 196 | 271 | 0.7233 | -11 | c.*26 others(22): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 2461 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91616733 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157a0001c0001t0001g0158 | 2 | 271 | 0.0074 | -11 | c.240 others(28): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91619901 | GTGTGTGT others(4): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 271 | 0.0037 | -11 | c.226 others(30): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 19/26 | chr14 | TogoVar | ||||||
| CATSPERB_chr14_91575698_91737086 | 91652670 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01069.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0019others(32): Show | 35 | 271 | 0.1292 | -11 | c.143 others(30): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
| CATSPERD_chr19_5715637_5783734 | 5731560 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02630.hp1 |
a0033a0034 | a0033c0047a0034c0046 | a0033c0047t0001a0034c0046t0001 | a0033c0047t0001g0004a0034c0046t0001g0005 | 2 | 336 | 0.0060 | -11 | c.276 others(28): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CATSPERD_chr19_5715637_5783734 | 5751531 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02027.hp2 HG02976.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0154a0001c0001t0002g0024a0002c0002t0001g0049others(1): Show | 4 | 336 | 0.0119 | -11 | c.988 others(24): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CATSPERD_chr19_5715637_5783734 | 5760619 | GGACCAAG others(4): Show |
G | intron_variant | MODIFIER | NA18974.hp1 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0053 | 1 | 336 | 0.0030 | -11 | c.142 others(30): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | chr19 | TogoVar | ||||||
| CATSPERD_chr19_5715637_5783734 | 5764029 | AGAAGAAA others(4): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 336 | 0.0030 | -11 | c.150 others(28): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CATSPERD_chr19_5715637_5783734 | 5772214 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG02027.hp2 HG02818.hp2 others(7): Show |
a0001a0004a0032 | a0001c0001a0004c0003a0032c0024 | a0001c0001t0001a0004c0003t0001a0032c0024t0001 | a0001c0001t0001g0099a0004c0003t0001g0110a0004c0003t0001g0241others(7): Show | 10 | 336 | 0.0298 | -11 | c.176 others(28): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CATSPERE_chr1_244456273_244645504 | 244489450 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01891.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0201a0001c0003t0001g0198 | 2 | 206 | 0.0097 | -11 | c.327 others(26): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CATSPERE_chr1_244456273_244645504 | 244508831 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 206 | 0.0049 | -11 | c.430 others(28): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CATSPERE_chr1_244456273_244645504 | 244531235 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03471.hp1 |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0006c0010t0001 | a0001c0002t0001g0088a0006c0010t0001g0137a0006c0010t0001g0138 | 3 | 206 | 0.0146 | -11 | c.536 others(30): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAV1_chr7_116520036_116566179 | 116533348 | TAAATAAA others(4): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0016others(100): Show | 106 | 342 | 0.3099 | -11 | c.195 others(28): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAV1_chr7_116520036_116566179 | 116534384 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0061 | 1 | 342 | 0.0029 | -11 | c.195 others(28): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
| CAV1_chr7_116520036_116566179 | 116555519 | AGAGAGAG others(4): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00738.hp1 HG01934.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0157a0001c0001t0001g0160a0001c0001t0001g0213others(4): Show | 7 | 342 | 0.0205 | -11 | c.196 others(28): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
| CAV1_chr7_116520036_116566179 | 116555521 | AGAGAGAG others(4): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01123.hp1 HG01257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0142a0001c0001t0001g0147others(6): Show | 10 | 342 | 0.0292 | -11 | c.196 others(28): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
| CAVIN1_chr17_42397449_42428256 | 42410892 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02630.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0265a0001c0001t0003g0031a0001c0001t0003g0032 | 3 | 338 | 0.0089 | -11 | c.472 others(28): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
| CAVIN1_chr17_42397449_42428256 | 42413566 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 338 | 0.0030 | -11 | c.472 others(28): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
| CBFA2T2_chr20_33485096_33655030 | 33494258 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0131 | 1 | 298 | 0.0034 | -11 | c.34+ others(26): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | chr20 | TogoVar | ||||||
| CBFA2T2_chr20_33485096_33655030 | 33497274 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0293 | 1 | 298 | 0.0034 | -11 | c.34+ others(26): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33501630 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0083 | 1 | 298 | 0.0034 | -11 | c.34+ others(28): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33504473 | GCTCACGG others(4): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01496.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029a0001c0001t0004g0030a0001c0001t0004g0037others(13): Show | 16 | 298 | 0.0537 | -11 | c.34+ others(28): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33634670 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0218 | 1 | 298 | 0.0034 | -11 | c.122 others(30): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33643799 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168 | 1 | 298 | 0.0034 | -11 | c.148 others(28): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | chr20 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88932791 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0016 | a0001c0016t0005 | a0001c0016t0005g0069 | 1 | 284 | 0.0035 | -11 | c.152 others(30): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
| CBFB_chr16_67024149_67106058 | 67028189 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 212 | 0.0047 | -11 | c.-12 others(22): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 959 | chr16 | TogoVar | ||||||
| CBFB_chr16_67024149_67106058 | 67102119 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG02074.hp1 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0014 | a0001c0002t0003g0007a0001c0002t0003g0008a0001c0002t0003g0038others(17): Show | 20 | 212 | 0.0943 | -11 | c.*33 others(22): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 1062 | chr16 | TogoVar | ||||||
| CBLB_chr3_105650461_105874012 | 105675613 | GTGGTTCA others(4): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0325 | 1 | 380 | 0.0026 | -11 | c.256 others(30): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 17/18 | chr3 | TogoVar | ||||||
| CBLB_chr3_105650461_105874012 | 105754549 | GAGAGAGA others(4): Show |
G | intron_variant | MODIFIER | NA18979.hp1 NA18994.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0291a0001c0002t0008g0297 | 2 | 380 | 0.0053 | -11 | c.567 others(28): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | ||||||
| CBLC_chr19_44772890_44805652 | 44784950 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03453.hp1 NA18978.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008a0001c0009 | a0001c0001t0001a0001c0008t0001a0001c0009t0001 | a0001c0001t0001g0267a0001c0001t0001g0268a0001c0008t0001g0050others(1): Show | 4 | 344 | 0.0116 | -11 | c.917 others(26): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CBLC_chr19_44772890_44805652 | 44794457 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG02165.hp2 others(20): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0119others(16): Show | 23 | 344 | 0.0669 | -11 | c.136 others(28): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CBLIF_chr11_59824273_59850499 | 59834238 | CTTTTTCT others(4): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 342 | 0.0029 | -11 | c.107 others(30): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | ||||||
| CBLL1_chr7_107739142_107766667 | 107741027 | CAGTACAA others(4): Show |
C | upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 432 | 0.0023 | -11 | c.-31 others(22): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 3114 | chr7 | TogoVar | ||||||
| CBLL2_chrX_22267913_22279461 | 22271143 | GAAAAAAA others(4): Show |
G | upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 346 | 0.0029 | -11 | c.-18 others(22): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 1769 | chrX | TogoVar | ||||||
| CBLL2_chrX_22267913_22279461 | 22271960 | GTTTTTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01192.hp1 others(13): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0000a0002c0002t0001g0000a0002c0003t0001g0000others(1): Show | 16 | 346 | 0.0462 | -11 | c.-10 others(22): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | ||||||
| CBLN4_chr20_55992357_56010519 | 56006967 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0024 | -11 | c.-28 others(22): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 1449 | chr20 | TogoVar | ||||||
| CBL_chr11_119201339_119313149 | 119210603 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0245 | 1 | 364 | 0.0028 | -11 | c.195 others(28): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CBL_chr11_119201339_119313149 | 119245956 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(106): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0010 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(15): Show | a0001c0001t0001g0010a0001c0001t0001g0131a0001c0001t0001g0134others(106): Show | 109 | 364 | 0.2995 | -11 | c.443 others(30): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CBL_chr11_119201339_119313149 | 119270436 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02818.hp1 NA18977.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0023a0002c0003t0002g0202 | 2 | 364 | 0.0055 | -11 | c.444 others(28): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CBR1_chr21_36065024_36078164 | 36068697 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 NA19030.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 3 | 430 | 0.0070 | -11 | c.-14 others(22): Show |
CBR1 | ENSG00000159228.13 | transcript | ENST00000290349.11 | protein_coding | 1326 | chr21 | TogoVar | ||||||
| CBS_chr21_43048191_43080835 | 43052880 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 298 | 0.0034 | -11 | c.*98 others(20): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 310 | chr21 | TogoVar | ||||||
| CBS_chr21_43048191_43080835 | 43077083 | GAAAAAAA others(4): Show |
G | upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 298 | 0.0034 | -11 | c.-14 others(22): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1249 | chr21 | TogoVar |