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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAV1_chr7_116520036_116566179 | 116555518 | A | AAGAAAGA others(7): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 342 | 0.0029 | 14 | c.196 others(31): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116555518 | A | AAGAAAGA others(7): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0275a0001c0001t0001g0313 | 3 | 342 | 0.0088 | 14 | c.196 others(31): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAV2_chr7_116494738_116513541 | 116498910 | C | CCACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0017a0001c0001t0007g0006 | 4 | 374 | 0.0107 | 14 | c.-87 others(23): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 827 | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116498923 | A | AACACACA others(7): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | 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 | a0002c0008t0002g0086 | 1 | 476 | 0.0021 | 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 | a0001c0001t0001g0128a0001c0001t0001g0215a0001c0001t0001g0235others(4): Show | 7 | 338 | 0.0207 | 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 | a0001c0001t0024g0078 | 1 | 338 | 0.0030 | 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 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0083others(5): Show | 8 | 338 | 0.0237 | 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 | a0001c0001t0006g0057 | 1 | 338 | 0.0030 | 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 | a0001c0001t0004g0024 | 1 | 298 | 0.0034 | 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 | a0001c0001t0004g0020a0001c0001t0004g0021 | 2 | 298 | 0.0067 | 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 | a0001c0001t0007g0012 | 1 | 298 | 0.0034 | 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 | a0001c0001t0004g0054 | 1 | 298 | 0.0034 | 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 |
a0001a0003 | a0001c0001a0001c0004a0003c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0234a0001c0001t0001g0255a0001c0001t0001g0256others(103): Show | 106 | 298 | 0.3557 | 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 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0007a0001c0001t0008a0001c0001t0025others(1): Show | a0001c0001t0007g0008a0001c0001t0007g0010a0001c0001t0007g0011others(10): Show | 13 | 298 | 0.0436 | 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 | a0001c0005t0002g0182 | 1 | 298 | 0.0034 | 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 | a0001c0002t0024g0074 | 1 | 298 | 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 | a0001c0002t0001g0104 | 1 | 284 | 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 | a0001c0001t0001g0079a0001c0001t0001g0103a0001c0001t0001g0163others(12): Show | 15 | 284 | 0.0528 | 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 | 212 | 0.0047 | 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 | 212 | 0.0047 | 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 | a0001c0001t0001g0059a0001c0001t0001g0082 | 2 | 212 | 0.0094 | 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 | 212 | 0.0047 | 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 | a0001c0001t0041g0166 | 1 | 380 | 0.0026 | 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 | a0001c0001t0004g0342 | 1 | 380 | 0.0026 | 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(375): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(59): Show | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0042others(375): Show | 378 | 380 | 0.9947 | 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 | a0001c0001t0009g0187 | 1 | 380 | 0.0026 | 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 | a0001c0001t0004g0207a0001c0001t0004g0209a0001c0001t0009g0184others(1): Show | 4 | 380 | 0.0105 | 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 | a0001c0001t0003g0127 | 1 | 380 | 0.0026 | 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 | a0001c0001t0003g0121a0001c0001t0003g0130a0001c0001t0003g0135others(1): Show | 4 | 380 | 0.0105 | 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 | a0001c0003t0005g0328 | 1 | 380 | 0.0026 | 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 | a0001c0002t0008g0297a0001c0002t0008g0299a0001c0014t0021g0301 | 3 | 380 | 0.0079 | 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 |
a0001a0002a0004 | a0001c0006a0002c0003a0004c0010 | a0001c0006t0001a0002c0003t0001a0004c0010t0001 | a0001c0006t0001g0048a0002c0003t0001g0081a0002c0003t0001g0101others(1): Show | 4 | 344 | 0.0116 | 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 | a0001c0001t0001g0073a0002c0002t0001g0239 | 2 | 342 | 0.0059 | 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 | a0002c0002t0001g0236a0002c0002t0001g0237a0002c0002t0001g0242others(1): Show | 4 | 342 | 0.0117 | 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 | a0001c0001t0001g0023a0001c0001t0004g0023 | 2 | 432 | 0.0046 | 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 | 346 | 0.0029 | 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 | a0001c0001t0001g0000a0002c0004t0001g0000a0003c0005t0001g0000 | 8 | 346 | 0.0231 | 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 | a0001c0003t0002g0107 | 1 | 416 | 0.0024 | 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 | a0001c0001t0003g0012 | 1 | 364 | 0.0028 | 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 | a0001c0001t0002g0268a0001c0001t0002g0269a0001c0001t0002g0270others(4): Show | 7 | 364 | 0.0192 | 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 | a0001c0001t0005g0239 | 1 | 364 | 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 | a0001c0001t0002g0268a0001c0001t0002g0269a0001c0001t0002g0270others(6): Show | 9 | 364 | 0.0247 | 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 | a0001c0002t0022a0001c0002t0047 | a0001c0002t0022g0040a0001c0002t0022g0045a0001c0002t0047g0044 | 3 | 364 | 0.0082 | 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 | a0001c0001t0001g0123a0001c0001t0001g0163a0001c0001t0001g0166others(3): Show | 6 | 364 | 0.0165 | 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 | a0001c0004t0001g0302a0002c0002t0001g0002a0002c0002t0001g0010others(41): Show | 65 | 424 | 0.1533 | 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(119): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0011 | a0001c0001t0001a0001c0004t0001a0008c0011t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(69): Show | 122 | 424 | 0.2877 | 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 | a0001c0009t0004g0244 | 1 | 424 | 0.0024 | 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 | a0001c0004t0001g0023a0001c0004t0001g0241a0001c0004t0001g0242 | 5 | 424 | 0.0118 | 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 | a0001c0001t0001g0171a0001c0001t0001g0186a0001c0001t0001g0200others(5): Show | 8 | 424 | 0.0189 | 14 | c.398 others(31): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |