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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAV2_chr7_116494738_116513541 | 116498923 | A | AACACACA others(7): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 68 | 0.0147 | 14 | c.-85 others(23): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 814 | chr7 | TogoVar | |||||||
CAV3_chr3_8728802_8751758 | 8746797 | T | TCACACAC others(7): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0085 | 1 | 436 | 0.0023 | 14 | c.*93 others(23): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 40 | chr3 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42401707 | A | AAGAAAGA others(7): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG04184.hp2 HG06807.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0123 a0001c0001t0001g0195 a0001c0001t0001g0215 others(4): Show |
7 | 203 | 0.0345 | 14 | c.*29 others(25): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 741 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42405682 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0077 | 1 | 291 | 0.0034 | 14 | c.472 others(29): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42411192 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02622.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0082 a0001c0001t0001g0145 others(4): Show |
8 | 136 | 0.0588 | 14 | c.472 others(31): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42419882 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0058 | 1 | 162 | 0.0062 | 14 | c.471 others(31): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33494273 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 87 | 0.0115 | 14 | 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 | 33494273 | A | ATATATTT others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 a0001c0001t0004g0020 |
2 | 88 | 0.0227 | 14 | 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 | T | TTTTATAT others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 10 | 0.1000 | 14 | c.34+ others(31): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33559172 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 153 | 0.0065 | 14 | c.35- others(31): 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(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(103): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0251 others(103): Show |
106 | 183 | 0.5792 | 14 | c.35- others(31): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33633803 | T | TTGCCATG others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0007a0001c0001t0008a0001c0001t0025others(1): Show | a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 others(10): Show |
13 | 296 | 0.0439 | 14 | c.122 others(33): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642110 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0184 | 1 | 233 | 0.0043 | 14 | c.148 others(33): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33643757 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0095 | 1 | 296 | 0.0034 | 14 | c.148 others(31): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88889737 | C | CAAATCCC others(7): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 282 | 0.0035 | 14 | c.711 others(31): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88915399 | G | GGAGTGTG others(7): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02109.hp2 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0025a0001c0003t0001others(6): Show | a0001c0001t0001g0040 a0001c0001t0001g0105 a0001c0001t0001g0135 others(12): Show |
15 | 282 | 0.0532 | 14 | c.152 others(33): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67037666 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0206 | 1 | 110 | 0.0091 | 14 | c.282 others(29): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67055357 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 108 | 0.0093 | 14 | c.283 others(33): 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(7): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0082 |
2 | 51 | 0.0392 | 14 | c.283 others(29): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67075197 | A | ATATGTGT others(7): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 48 | 0.0208 | 14 | c.400 others(31): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105665442 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0165 | 1 | 354 | 0.0028 | 14 | c.268 others(33): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105665442 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0341 | 1 | 354 | 0.0028 | 14 | c.268 others(33): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105722568 | A | AATTTCAG others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(374): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(59): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0043 others(373): Show |
377 | 378 | 0.9974 | 14 | c.120 others(33): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 9/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754527 | G | GAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0186 | 1 | 369 | 0.0027 | 14 | c.567 others(31): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754529 | G | GAGAGAGA others(7): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02622.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0009g0183 others(1): Show |
4 | 240 | 0.0167 | 14 | c.567 others(31): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105780653 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0128 | 1 | 332 | 0.0030 | 14 | c.420 others(31): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105780654 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18978.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0032 | a0001c0001t0003g0123 a0001c0001t0003g0131 a0001c0001t0003g0136 others(1): Show |
4 | 378 | 0.0106 | 14 | c.420 others(31): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105821260 | A | ATATCTAT others(7): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0327 | 1 | 77 | 0.0130 | 14 | c.419 others(33): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105873380 | G | GCACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 NA18975.hp2 NA18994.hp1 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0008a0001c0014t0021 | a0001c0002t0008g0296 a0001c0002t0008g0298 a0001c0014t0021g0300 |
3 | 45 | 0.0667 | 14 | c.-46 others(25): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4369 | chr3 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44774130 | T | TTGTGTGT others(7): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001a0003a0006 | a0001c0006a0003c0003a0006c0010 | a0001c0006t0001a0003c0003t0001a0006c0010t0001 | a0001c0006t0001g0049 a0003c0003t0001g0083 a0003c0003t0001g0103 others(1): Show |
4 | 144 | 0.0278 | 14 | c.-38 others(25): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 3759 | chr19 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59827460 | G | GACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 NA18973.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0075 a0002c0002t0001g0206 |
2 | 25 | 0.0800 | 14 | c.*20 others(25): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 1812 | chr11 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59827486 | C | CACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01123.hp2 NA18948.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0209 others(1): Show |
4 | 332 | 0.0120 | 14 | c.*19 others(25): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 1786 | chr11 | TogoVar | |||||||
CBLL1_chr7_107739142_107766667 | 107743870 | G | GGTGTCCT others(7): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0022 a0001c0001t0004g0022 |
2 | 430 | 0.0047 | 14 | c.-29 others(23): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 271 | chr7 | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22271960 | G | GGTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 5 | 0.2000 | 14 | c.-10 others(25): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22271960 | G | GTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG02040.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0002c0004t0001a0003c0005t0001 | a0001c0001t0001g0000 a0002c0004t0001g0000 a0003c0005t0001g0000 |
8 | 12 | 0.6667 | 14 | c.-10 others(25): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | |||||||
CBLN2_chr18_72531681_72549342 | 72542909 | C | CCACACAC others(7): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 51 | 0.0196 | 14 | c.-16 others(31): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 2/4 | chr18 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119245956 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 27 | 0.0370 | 14 | c.443 others(33): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119260939 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02145.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0020others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0269 a0001c0001t0002g0304 others(3): Show |
7 | 98 | 0.0714 | 14 | c.444 others(33): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119277237 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0242 | 1 | 358 | 0.0028 | 14 | c.100 others(31): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119277239 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02109.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0019others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0269 a0001c0001t0002g0285 others(5): Show |
9 | 132 | 0.0682 | 14 | c.100 others(31): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119277241 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02559.hp1 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0048 | a0001c0002t0022g0043 a0001c0002t0022g0048 a0001c0002t0048g0047 |
3 | 88 | 0.0341 | 14 | c.100 others(31): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119283625 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03704.hp2 NA18944.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0126 a0001c0001t0001g0166 a0001c0001t0001g0169 others(3): Show |
6 | 37 | 0.1622 | 14 | c.143 others(33): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36142431 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(62): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0272 a0002c0002t0001g0004 a0002c0002t0001g0009 others(36): Show |
65 | 310 | 0.2097 | 14 | c.398 others(31): 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(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(118): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0011 | a0001c0001t0001a0001c0004t0001a0008c0011t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(58): Show |
121 | 390 | 0.3103 | 14 | c.398 others(31): 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(7): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0220 | 1 | 270 | 0.0037 | 14 | c.398 others(31): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36142436 | A | AACAAAAA others(7): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0020 a0001c0004t0001g0221 a0001c0004t0001g0222 |
5 | 274 | 0.0182 | 14 | c.398 others(31): 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(7): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18948.hp1 NA18949.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0158 a0001c0001t0001g0177 others(4): Show |
8 | 419 | 0.0191 | 14 | c.398 others(31): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36146923 | C | CTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0238 | 1 | 66 | 0.0152 | 14 | c.*41 others(23): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 362 | chr21 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48073824 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02451.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0032 a0001c0001t0002g0035 others(3): Show |
7 | 33 | 0.2121 | 14 | c.413 others(31): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48080951 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0256 | 1 | 241 | 0.0041 | 14 | c.-37 others(31): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar |