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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN12_chr19_38725192_38749474 | 38735698 | GGGGGTTC others(12): Show |
G | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0214 | 1 | 342 | 0.0029 | -19 | c.158 others(36): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735738 | GGGGGTTC others(12): Show |
G | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 342 | 0.0029 | -19 | c.158 others(36): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735808 | GGGGGTTC others(12): Show |
G | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 342 | 0.0029 | -19 | c.158 others(36): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735823 | GGGGCGGG others(12): Show |
G | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168 | 1 | 342 | 0.0029 | -19 | c.158 others(36): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30759052 | TTCCCTCC others(12): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0147 | 1 | 384 | 0.0026 | -19 | c.775 others(34): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 7/22 | chr2 | TogoVar | ||||||
CAPN1_chr11_65176928_65217006 | 65215764 | AAACGAGT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 394 | 0.0025 | -19 | c.*44 others(30): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 3759 | chr11 | TogoVar | ||||||
CAPN1_chr11_65176928_65217006 | 65215900 | GGGTGGGC others(12): Show |
G | downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0273 | 1 | 394 | 0.0025 | -19 | c.*46 others(30): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 3895 | chr11 | TogoVar | ||||||
CAPN1_chr11_65176928_65217006 | 65215913 | AGTGAGCG others(12): Show |
A | downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 | 1 | 394 | 0.0025 | -19 | c.*46 others(30): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 3908 | chr11 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230746224 | CTTCTCTC others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01168.hp1 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0048a0001c0003t0001g0045a0001c0005t0001g0037others(31): Show | 34 | 394 | 0.0863 | -19 | c.-12 others(30): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1163 | chr1 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34103733 | CACAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0023a0001c0001t0003g0026 | 3 | 246 | 0.0122 | -19 | c.*43 others(30): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1124 | chr11 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30754076 | CAACATTC others(12): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01361.hp1 HG01891.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036a0002c0002t0002g0037a0002c0002t0002g0038others(13): Show | 20 | 378 | 0.0529 | -19 | c.-39 others(34): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 1/18 | chr12 | TogoVar | ||||||
CAPS2_chr12_75270979_75335324 | 75311705 | AAAAAAAC others(12): Show |
A | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 370 | 0.0027 | -19 | c.545 others(36): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112660581 | AGAAGTAG others(12): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 368 | 0.0027 | -19 | c.585 others(34): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116859903 | TTTCTTTC others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02074.hp2 HG02280.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0003 | a0001c0001t0011g0007a0001c0002t0003g0055 | 2 | 354 | 0.0057 | -19 | c.-27 others(30): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2683 | chr7 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19404355 | CCAAATTG others(12): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 364 | 0.0028 | -19 | c.93+ others(36): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933704 | CTTTCTTT others(12): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0023 | 1 | 322 | 0.0031 | -19 | c.151 others(36): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80175952 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(58): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0012a0002c0002others(17): Show | a0001c0001t0002a0001c0012t0001a0002c0002t0001others(23): Show | a0001c0001t0002g0004a0001c0001t0002g0096a0001c0001t0002g0102others(55): Show | 61 | 376 | 0.1622 | -19 | c.-36 others(38): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARHSP1_chr16_8847947_8874006 | 8861158 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02040.hp2 HG02155.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0039 | a0001c0001t0003g0012a0001c0001t0003g0043a0001c0001t0003g0221others(5): Show | 9 | 470 | 0.0192 | -19 | c.-7- others(34): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CARNMT1_chr9_74975790_75033293 | 75006350 | CCTAATGC others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00597.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022a0001c0001t0002g0020a0001c0001t0002g0021others(39): Show | 46 | 366 | 0.1257 | -19 | c.591 others(36): Show |
CARNMT1 | ENSG00000156017.13 | transcript | ENST00000376834.8 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
CARNS1_chr11_67410678_67430604 | 67427073 | GTTTTTTT others(12): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG01934.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0023a0001c0003t0012a0001c0004t0012others(9): Show | a0001c0001t0023g0029a0001c0003t0012g0003a0001c0003t0012g0019others(22): Show | 48 | 346 | 0.1387 | -19 | c.*24 others(30): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 1470 | chr11 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41510413 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 164 | 0.0061 | -19 | c.*99 others(31): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 4520 | chrX | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96752550 | ATAACCTC others(12): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA19010.hp1 |
a0002 | a0002c0004a0002c0006 | a0002c0004t0001a0002c0006t0001 | a0002c0004t0001g0053a0002c0006t0001g0041 | 2 | 358 | 0.0056 | -19 | c.152 others(38): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CATSPERB_chr14_91575698_91737086 | 91707575 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(197): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0029others(197): Show | 200 | 271 | 0.7380 | -19 | c.466 others(34): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 6/26 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5746516 | CCTCCCGG others(12): Show |
C | intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 | 1 | 336 | 0.0030 | -19 | c.808 others(34): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5751197 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02165.hp1 HG02280.hp1 others(5): Show |
a0001a0003a0011 | a0001c0001a0003c0004a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(2): Show | a0001c0001t0001g0054a0001c0001t0001g0060a0001c0001t0001g0062others(5): Show | 8 | 336 | 0.0238 | -19 | c.988 others(34): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERG_chr19_38330830_38375943 | 38337293 | AGGTGCTG others(12): Show |
A | frameshift_variant | HIGH | HG01258.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0280 | 1 | 376 | 0.0027 | -19 | c.61_ others(24): Show |
p.Val others(4): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 2/29 | 121/3691 | 61/3480 | 21/1159 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CAV1_chr7_116520036_116566179 | 116533338 | AAAAATAA others(12): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00597.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0298a0001c0001t0002g0257a0001c0001t0002g0258others(47): Show | 50 | 342 | 0.1462 | -19 | c.195 others(36): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV3_chr3_8728802_8751758 | 8736460 | GCCAGGAG others(12): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0010 | a0001c0010t0012 | a0001c0010t0012g0069 | 1 | 476 | 0.0021 | -19 | c.114 others(36): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAVIN1_chr17_42397449_42428256 | 42410892 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01192.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0025a0001c0001t0026others(2): Show | a0001c0001t0007g0002a0001c0001t0007g0084a0001c0001t0007g0085others(11): Show | 18 | 338 | 0.0533 | -19 | c.472 others(36): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42413558 | CAAAAAGG others(12): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0005 | a0001c0005t0028 | a0001c0005t0028g0028 | 1 | 338 | 0.0030 | -19 | c.472 others(36): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33514271 | GTGGTGCG others(12): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0282 | 1 | 298 | 0.0034 | -19 | c.34+ others(36): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33610747 | GTATCCCA others(12): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0044 | a0001c0004t0044g0092 | 1 | 298 | 0.0034 | -19 | c.179 others(34): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88954340 | CCAGCCAA others(12): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0099 | 1 | 284 | 0.0035 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88954379 | CACCCAAG others(12): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0268 | 1 | 284 | 0.0035 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88954913 | CCCAAGGC others(12): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0100 | 1 | 284 | 0.0035 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88954932 | TCCAAGGC others(12): Show |
T | intron_variant | MODIFIER | NA18964.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0131 | 2 | 284 | 0.0070 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955046 | GCCAAGGC others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp2 others(33): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0031others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0021a0001c0001t0001g0038others(33): Show | 36 | 284 | 0.1268 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955109 | ACTCCTGA others(12): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01361.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0020 | a0001c0001t0001g0016a0001c0001t0001g0057a0001c0001t0001g0266others(3): Show | 6 | 284 | 0.0211 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955217 | GCCAAGGC others(12): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0269 | 2 | 284 | 0.0070 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955451 | ACTCCTGA others(12): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01361.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0016a0001c0001t0020others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0022a0001c0001t0001g0057others(7): Show | 10 | 284 | 0.0352 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955559 | GCCAAGGC others(12): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 284 | 0.0035 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955670 | TCACCCAA others(12): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00733.hp2 others(23): Show |
a0001 | a0001c0001a0001c0015a0001c0021 | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0042a0001c0001t0001g0043others(23): Show | 26 | 284 | 0.0916 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955803 | CCACCCAA others(12): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0115 | 1 | 284 | 0.0035 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955939 | CCCAAGGC others(12): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0029 | a0001c0001t0001g0256a0001c0020t0029g0111 | 2 | 284 | 0.0070 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88955958 | GCCAAGGC others(12): Show |
G | intron_variant | MODIFIER | HG03239.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0098 | 2 | 284 | 0.0070 | -19 | c.151 others(38): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105829666 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00741.hp2 others(27): Show |
a0001a0002a0009 | a0001c0002a0001c0019a0002c0005others(1): Show | a0001c0002t0007a0001c0002t0010a0001c0002t0017others(5): Show | a0001c0002t0007g0004a0001c0002t0007g0007a0001c0002t0007g0008others(27): Show | 30 | 380 | 0.0790 | -19 | c.419 others(38): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44784950 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0047 | 1 | 344 | 0.0029 | -19 | c.917 others(34): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CBLL2_chrX_22267913_22279461 | 22271960 | GTTTTTTT others(12): Show |
G | upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 346 | 0.0029 | -19 | c.-10 others(30): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119231431 | CCTGTAAT others(12): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02723.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0008a0001c0001t0010a0001c0001t0046others(1): Show | a0001c0001t0008g0342a0001c0001t0008g0343a0001c0001t0008g0344others(4): Show | 7 | 364 | 0.0192 | -19 | c.196 others(35): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119264423 | CTTCTCTT others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG01081.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0297others(17): Show | 20 | 364 | 0.0550 | -19 | c.444 others(36): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |