| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPERD_chr19_5715637_5783734 | 5762058 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02559.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0055a0003c0004t0001g0324 | 2 | 336 | 0.0060 | 15 | c.142 others(34): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CATSPERD_chr19_5715637_5783734 | 5762059 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01261.hp1 HG04115.hp1 others(2): Show |
a0001a0012 | a0001c0001a0012c0015 | a0001c0001t0001a0012c0015t0001 | a0001c0001t0001g0046a0001c0001t0001g0136a0001c0001t0001g0194others(2): Show | 5 | 336 | 0.0149 | 15 | c.142 others(34): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | chr19 | TogoVar | ||||||
| CATSPERE_chr1_244456273_244645504 | 244573412 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(18): Show |
a0001a0010a0012 | a0001c0002a0001c0007a0001c0018others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0032a0001c0002t0001g0046a0001c0002t0001g0052others(18): Show | 21 | 206 | 0.1019 | 15 | c.195 others(32): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CATSPERE_chr1_244456273_244645504 | 244625428 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02897.hp2 NA19043.hp1 NA19054.hp2 |
a0002a0006a0010 | a0002c0004a0006c0010a0010c0014 | a0002c0004t0001a0006c0010t0001a0010c0014t0004 | a0002c0004t0001g0082a0006c0010t0001g0137a0010c0014t0004g0161 | 3 | 206 | 0.0146 | 15 | c.264 others(34): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CATSPERE_chr1_244456273_244645504 | 244625430 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03453.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0038a0001c0001t0001g0125a0001c0001t0004g0151others(1): Show | 4 | 206 | 0.0194 | 15 | c.264 others(34): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03710.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0003 | a0001c0001t0003g0185a0001c0006t0003g0193 | 2 | 206 | 0.0097 | 15 | c.264 others(34): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | HG02273.hp1 HG02970.hp2 NA18984.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0120a0001c0001t0003g0182a0001c0001t0003g0189others(1): Show | 4 | 206 | 0.0194 | 15 | c.264 others(34): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CATSPERE_chr1_244456273_244645504 | 244625432 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01192.hp1 HG01192.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0069a0001c0001t0001g0101others(6): Show | 9 | 206 | 0.0437 | 15 | c.264 others(34): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CATSPERG_chr19_38330830_38375943 | 38331528 | G | GGCAGGAG others(8): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0350 | 1 | 376 | 0.0027 | 15 | c.-43 others(26): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 4301 | chr19 | TogoVar | ||||||
| CAV1_chr7_116520036_116566179 | 116530208 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03239.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0082a0001c0001t0004g0083 | 2 | 342 | 0.0059 | 15 | c.195 others(32): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 342 | 0.0059 | 15 | c.195 others(32): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG02040.hp1 NA20805.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0184a0001c0003t0003g0178 | 2 | 342 | 0.0059 | 15 | c.195 others(32): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAV1_chr7_116520036_116566179 | 116546703 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0303 | 1 | 342 | 0.0029 | 15 | c.196 others(34): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CAVIN1_chr17_42397449_42428256 | 42411192 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0169 | 1 | 338 | 0.0030 | 15 | c.472 others(32): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
| CAVIN1_chr17_42397449_42428256 | 42413566 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 338 | 0.0030 | 15 | c.472 others(32): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
| CAVIN3_chr11_6313946_6325501 | 6324322 | T | TGCAGCAG others(8): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0006 | 1 | 426 | 0.0024 | 15 | c.-38 others(26): Show |
CAVIN3 | ENSG00000170955.10 | transcript | ENST00000303927.4 | protein_coding | 3822 | chr11 | TogoVar | ||||||
| CBFA2T2_chr20_33485096_33655030 | 33494273 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 298 | 0.0034 | 15 | c.34+ others(30): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33494274 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039a0001c0001t0004g0054 | 2 | 298 | 0.0067 | 15 | c.34+ others(30): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | chr20 | TogoVar | ||||||
| CBFA2T2_chr20_33485096_33655030 | 33544945 | C | CAGAACAG others(8): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 298 | 0.0034 | 15 | c.34+ others(32): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33544945 | C | CAGAATAG others(8): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03098.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008 | a0001c0001t0003g0153a0001c0001t0005g0138a0001c0001t0008g0007 | 3 | 298 | 0.0101 | 15 | c.34+ others(32): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33544985 | T | TAGAACAG others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0067a0001c0001t0007g0069 | 2 | 298 | 0.0067 | 15 | c.34+ others(32): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33544990 | T | TAGAACAG others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 298 | 0.0034 | 15 | c.34+ others(32): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33545010 | T | TAGAACAG others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0014a0001c0001t0015g0015 | 2 | 298 | 0.0067 | 15 | c.34+ others(32): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33557004 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0001 | 1 | 298 | 0.0034 | 15 | c.35- others(32): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33591179 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(72): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0159a0001c0001t0001g0195a0001c0001t0001g0222others(72): Show | 75 | 298 | 0.2517 | 15 | c.35- others(32): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T2_chr20_33485096_33655030 | 33621287 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03471.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0026 | a0001c0001t0013g0197a0001c0001t0013g0199a0001c0001t0013g0212others(1): Show | 4 | 298 | 0.0134 | 15 | c.510 others(32): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CBFA2T3_chr16_88869858_88982207 | 88880690 | T | TGCTGGCC others(8): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02818.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0030a0001c0003t0001others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0084a0001c0001t0001g0086others(5): Show | 8 | 284 | 0.0282 | 15 | c.147 others(30): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 10/11 | chr16 | TogoVar | ||||||
| CBFB_chr16_67024149_67106058 | 67055357 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0185 | 1 | 212 | 0.0047 | 15 | c.283 others(34): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CBFB_chr16_67024149_67106058 | 67058128 | G | GGTTGTTG others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0191a0001c0001t0005g0194 | 2 | 212 | 0.0094 | 15 | c.283 others(32): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CBFB_chr16_67024149_67106058 | 67066393 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0037 | 1 | 212 | 0.0047 | 15 | c.283 others(30): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CBLB_chr3_105650461_105874012 | 105780653 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 380 | 0.0026 | 15 | c.420 others(32): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | ||||||
| CBLC_chr19_44772890_44805652 | 44774945 | T | TTTTTGTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG02818.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0003c0005t0001g0029others(1): Show | 4 | 344 | 0.0116 | 15 | c.-29 others(26): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 2944 | chr19 | TogoVar | ||||||
| CBLIF_chr11_59824273_59850499 | 59834311 | T | TCTTCTTC others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 342 | 0.0029 | 15 | c.107 others(34): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | ||||||
| CBLL2_chrX_22267913_22279461 | 22271960 | G | GGTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 346 | 0.0029 | 15 | c.-10 others(26): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | ||||||
| CBLL2_chrX_22267913_22279461 | 22271960 | G | GTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 1 | 346 | 0.0029 | 15 | c.-10 others(26): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | ||||||
| CBLN2_chr18_72531681_72549342 | 72544973 | C | CTAATAAT others(8): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 NA19068.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0019a0001c0002t0006g0020 | 2 | 416 | 0.0048 | 15 | c.-12 others(26): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 632 | chr18 | TogoVar | ||||||
| CBL_chr11_119201339_119313149 | 119206289 | C | CCGGTGGC others(8): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 NA18956.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0131a0001c0001t0001g0212a0001c0001t0025g0017 | 3 | 364 | 0.0082 | 15 | c.-12 others(24): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 49 | chr11 | TogoVar | ||||||
| CBL_chr11_119201339_119313149 | 119260939 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0047 | a0001c0001t0002g0267a0001c0002t0047g0044 | 2 | 364 | 0.0055 | 15 | c.444 others(34): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CBL_chr11_119201339_119313149 | 119264383 | T | TTTCTCTT others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0028a0001c0001t0019g0031 | 2 | 364 | 0.0055 | 15 | c.444 others(32): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CBL_chr11_119201339_119313149 | 119264388 | T | TTTCTCTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01243.hp1 others(12): Show |
a0001a0008 | a0001c0001a0001c0006a0008c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0054a0001c0001t0001g0087a0001c0001t0001g0088others(12): Show | 15 | 364 | 0.0412 | 15 | c.444 others(32): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CBL_chr11_119201339_119313149 | 119264388 | T | TTTCTTTT others(8): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 364 | 0.0028 | 15 | c.444 others(32): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CBL_chr11_119201339_119313149 | 119283625 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 364 | 0.0028 | 15 | c.143 others(34): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CBR3_chr21_36130079_36151562 | 36138103 | T | TTTTAGTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 NA18522.hp2 |
a0002a0004 | a0002c0002a0004c0007 | a0002c0002t0001a0004c0007t0001 | a0002c0002t0001g0094a0002c0002t0001g0128a0004c0007t0001g0147 | 3 | 424 | 0.0071 | 15 | c.397 others(30): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CBR3_chr21_36130079_36151562 | 36142431 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01099.hp2 others(44): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006a0002c0002t0001g0015a0002c0002t0001g0025others(33): Show | 47 | 424 | 0.1109 | 15 | c.398 others(32): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CBR3_chr21_36130079_36151562 | 36142435 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 424 | 0.0024 | 15 | c.398 others(32): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CBR3_chr21_36130079_36151562 | 36142436 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02040.hp2 HG02080.hp1 others(15): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0020a0001c0001t0001g0034a0001c0001t0001g0057others(12): Show | 18 | 424 | 0.0425 | 15 | c.398 others(32): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CBR3_chr21_36130079_36151562 | 36142441 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19066.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0223 | 2 | 424 | 0.0047 | 15 | c.398 others(32): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CBR3_chr21_36130079_36151562 | 36146917 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 424 | 0.0024 | 15 | c.*40 others(24): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 356 | chr21 | TogoVar | ||||||
| CBX1_chr17_48065059_48106478 | 48073824 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01517.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0022a0001c0001t0002g0023others(4): Show | 7 | 396 | 0.0177 | 15 | c.413 others(32): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 4/4 | chr17 | TogoVar | ||||||
| CBX1_chr17_48065059_48106478 | 48080951 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 396 | 0.0025 | 15 | c.-37 others(32): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar |