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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBLB_chr3_105650461_105874012 | 105754527 | G | GAGAGAC | intron_variant | MODIFIER | HG02280.hp1 NA20300.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0038 | a0001c0001t0009g0212a0001c0001t0009g0213a0001c0001t0038g0214 | 3 | 380 | 0.0079 | 6 | c.567 others(23): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105754529 | G | GAGAGAC | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01074.hp1 others(20): Show |
a0001a0010 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0043others(3): Show | a0001c0001t0004g0176a0001c0001t0004g0250a0001c0001t0004g0252others(20): Show | 23 | 380 | 0.0605 | 6 | c.567 others(23): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105847392 | C | CCACACA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp1 others(63): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(10): Show | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0044others(63): Show | 66 | 380 | 0.1737 | 6 | c.419 others(23): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105861684 | T | TACACAC | intron_variant | MODIFIER | HG01256.hp2 HG01943.hp2 NA18952.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0037 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0004t0037g0165 | 3 | 380 | 0.0079 | 6 | c.168 others(23): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 2/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105873380 | G | GCACACA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG02015.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0012others(3): Show | a0001c0001t0004g0312a0001c0002t0002g0172a0001c0002t0002g0200others(40): Show | 43 | 380 | 0.1132 | 6 | c.-46 others(17): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4369 | chr3 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44774129 | G | GGTGTGT | upstream_gene_variant | MODIFIER | HG01358.hp2 HG02055.hp1 HG02280.hp1 others(3): Show |
a0000a0001a0002 | a0000c0004a0001c0001a0001c0011others(1): Show | a0000c0004t0001a0001c0001t0001a0001c0011t0001others(1): Show | a0000c0004t0001g0091a0000c0004t0001g0113a0001c0001t0001g0099others(3): Show | 6 | 344 | 0.0174 | 6 | c.-38 others(17): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 3760 | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44774130 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02109.hp2 HG02280.hp2 others(8): Show |
a0000a0001a0003 | a0000c0002a0001c0001a0001c0006others(2): Show | a0000c0002t0001a0001c0001t0001a0001c0006t0001others(2): Show | a0000c0002t0001g0041a0001c0001t0001g0045a0001c0001t0001g0125others(7): Show | 11 | 344 | 0.0320 | 6 | c.-38 others(17): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 3759 | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44784950 | G | GTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(13): Show |
a0000a0001a0002 | a0000c0004a0000c0017a0001c0001others(1): Show | a0000c0004t0001a0000c0017t0001a0001c0001t0001others(1): Show | a0000c0004t0001g0089a0000c0004t0001g0090a0000c0004t0001g0091others(13): Show | 16 | 344 | 0.0465 | 6 | c.917 others(21): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CBLIF_chr11_59824273_59850499 | 59827460 | G | GACACAC | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(12): Show | 15 | 342 | 0.0439 | 6 | c.*20 others(17): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 1812 | chr11 | TogoVar | ||||||
CBLL1_chr7_107739142_107766667 | 107764446 | T | TTGTGTG | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0036a0001c0001t0003g0077others(1): Show | 8 | 432 | 0.0185 | 6 | c.*52 others(17): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 2780 | chr7 | TogoVar | ||||||
CBLL2_chrX_22267913_22279461 | 22271960 | G | GTTTTTT | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01943.hp1 HG02165.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000a0002c0002t0001g0000 | 3 | 346 | 0.0087 | 6 | c.-10 others(17): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | ||||||
CBLN2_chr18_72531681_72549342 | 72542909 | C | CCACACA | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0031a0001c0002t0003others(3): Show | a0001c0001t0004g0010a0001c0001t0004g0132a0001c0001t0031g0148others(6): Show | 35 | 416 | 0.0841 | 6 | c.-16 others(23): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 2/4 | chr18 | TogoVar | ||||||
CBLN2_chr18_72531681_72549342 | 72544973 | C | CTAATAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01074.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(30): Show | 47 | 416 | 0.1130 | 6 | c.-12 others(17): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 632 | chr18 | TogoVar | ||||||
CBLN4_chr20_55992357_56010519 | 56010246 | G | GTCTCTC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(3): Show | 15 | 426 | 0.0352 | 6 | c.-60 others(17): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 4728 | chr20 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119206289 | C | CCGGCGG | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01257.hp2 HG01884.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0054a0001c0001t0002g0281a0001c0001t0003g0364others(1): Show | 4 | 364 | 0.0110 | 6 | c.-12 others(15): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 49 | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119206289 | C | CCGGTGG | upstream_gene_variant | MODIFIER | HG03710.hp2 NA18963.hp1 NA18964.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0156a0001c0001t0001g0203a0001c0001t0001g0204others(4): Show | 7 | 364 | 0.0192 | 6 | c.-12 others(15): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 49 | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119210603 | A | ATTTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0044a0001c0002t0006others(2): Show | a0001c0001t0005g0021a0001c0001t0005g0022a0001c0001t0005g0241others(6): Show | 9 | 364 | 0.0247 | 6 | c.195 others(23): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119236595 | G | GTATATA | intron_variant | MODIFIER | HG01884.hp2 HG02738.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0169a0001c0001t0002g0023a0001c0001t0011g0157others(5): Show | 8 | 364 | 0.0220 | 6 | c.443 others(23): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119260939 | C | CTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01109.hp1 others(27): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0123a0001c0001t0001g0131a0001c0001t0001g0134others(27): Show | 30 | 364 | 0.0824 | 6 | c.444 others(25): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119266018 | C | CAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01257.hp1 HG02683.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(2): Show | a0001c0001t0001g0171a0001c0001t0001g0185a0001c0001t0002g0005others(13): Show | 16 | 364 | 0.0440 | 6 | c.444 others(23): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119270416 | T | TTATATA | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02723.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0005 | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(2): Show | a0001c0001t0002g0262a0001c0001t0002g0266a0001c0001t0002g0339others(5): Show | 8 | 364 | 0.0220 | 6 | c.444 others(23): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119277239 | G | GCACACA | intron_variant | MODIFIER | HG02015.hp1 HG02055.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0029 | a0001c0001t0001g0178a0001c0001t0001g0226a0001c0001t0001g0249others(4): Show | 7 | 364 | 0.0192 | 6 | c.100 others(23): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBR3_chr21_36130079_36151562 | 36141261 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(102): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0006a0002c0002t0001g0010others(72): Show | 105 | 424 | 0.2476 | 6 | c.397 others(23): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CBS_chr21_43048191_43080835 | 43077865 | C | CCACACA | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02129.hp1 HG02165.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0008a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0008g0033a0001c0002t0001g0001a0001c0002t0001g0005others(2): Show | 5 | 298 | 0.0168 | 6 | c.-21 others(17): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2031 | chr21 | TogoVar | ||||||
CBS_chr21_43048191_43080835 | 43079143 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(84): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0002g0035a0001c0001t0002g0041a0001c0001t0002g0056others(41): Show | 87 | 298 | 0.2920 | 6 | c.-34 others(17): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3309 | chr21 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48069277 | T | TAAAAAA | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(3): Show | 6 | 396 | 0.0152 | 6 | c.*21 others(17): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 781 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48078787 | C | CTTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01169.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0013others(40): Show | 43 | 396 | 0.1086 | 6 | c.-37 others(23): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CBX2_chr17_79773148_79792983 | 79777923 | A | ACCCCCG | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0021a0001c0002t0036others(1): Show | a0001c0001t0001g0123a0001c0002t0021g0185a0001c0002t0036g0124others(1): Show | 4 | 466 | 0.0086 | 6 | c.-31 others(15): Show |
CBX2 | ENSG00000173894.11 | transcript | ENST00000310942.9 | protein_coding | 224 | chr17 | TogoVar | ||||||
CBX3_chr7_26196745_26218607 | 26208917 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00733.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0141a0001c0001t0001g0147others(10): Show | 19 | 410 | 0.0463 | 6 | c.330 others(21): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CBX4_chr17_79828156_79844440 | 79828522 | T | TCACACA | downstream_gene_variant | MODIFIER | HG02071.hp2 HG03098.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0002g0055 | 3 | 420 | 0.0071 | 6 | c.*54 others(17): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 4633 | chr17 | TogoVar | ||||||
CBX4_chr17_79828156_79844440 | 79828524 | T | TCACACA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01261.hp1 HG02451.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0008a0001c0007t0004 | a0001c0001t0002g0082a0001c0001t0008g0056a0001c0007t0004g0037 | 3 | 420 | 0.0071 | 6 | c.*54 others(17): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 4631 | chr17 | TogoVar | ||||||
CBX4_chr17_79828156_79844440 | 79834118 | T | TGCCGCC | disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG01069.hp1 HG01071.hp1 others(21): Show |
a0002a0005a0007 | a0002c0003a0002c0008a0005c0012others(1): Show | a0002c0003t0001a0002c0003t0003a0002c0003t0005others(3): Show | a0002c0003t0001g0009a0002c0003t0001g0016a0002c0003t0001g0025others(7): Show | 24 | 420 | 0.0571 | 6 | c.151 others(15): Show |
p.Ala others(13): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 5/5 | 1712/2675 | 1523/1683 | 508/560 | chr17 | TogoVar | ||
CBX5_chr12_54225942_54285122 | 54229272 | T | TAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0005others(51): Show | 57 | 368 | 0.1549 | 6 | c.*12 others(19): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 1669 | chr12 | TogoVar | ||||||
CBX5_chr12_54225942_54285122 | 54261687 | T | TGTTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(217): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0199a0001c0001t0002g0001a0001c0001t0002g0003others(199): Show | 220 | 368 | 0.5978 | 6 | c.-42 others(23): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
CBX7_chr22_39125772_39157680 | 39145718 | A | AGGGGGC | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG01257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0003g0014a0001c0001t0003g0093a0001c0001t0007g0100others(5): Show | 12 | 380 | 0.0316 | 6 | c.113 others(23): Show |
CBX7 | ENSG00000100307.13 | transcript | ENST00000216133.10 | protein_coding | 2/5 | chr22 | TogoVar | ||||||
CBX7_chr22_39125772_39157680 | 39149037 | T | TCCCTCC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0009others(148): Show | 265 | 380 | 0.6974 | 6 | c.113 others(21): Show |
CBX7 | ENSG00000100307.13 | transcript | ENST00000216133.10 | protein_coding | 2/5 | chr22 | TogoVar | ||||||
CBY3_chr5_179673560_179686034 | 179676225 | T | TACACAC | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01243.hp2 HG01884.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(7): Show | 21 | 412 | 0.0510 | 6 | c.*23 others(17): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 2334 | chr5 | TogoVar | ||||||
CBY3_chr5_179673560_179686034 | 179677966 | T | TAAAAAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG02040.hp2 HG02451.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0002c0002t0001g0013 | 10 | 412 | 0.0243 | 6 | c.*61 others(15): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 593 | chr5 | TogoVar | ||||||
CBY3_chr5_179673560_179686034 | 179677967 | T | TAAAAAA | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01346.hp1 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005 | 7 | 412 | 0.0170 | 6 | c.*61 others(15): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 592 | chr5 | TogoVar | ||||||
CBY3_chr5_179673560_179686034 | 179679350 | G | GCAGCTA | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008a0002c0002t0001g0010a0002c0002t0001g0013 | 7 | 412 | 0.0170 | 6 | c.47- others(17): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13925933 | A | AAAAAAT | intron_variant | MODIFIER | HG01109.hp2 HG02818.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0290a0001c0001t0001g0291 | 6 | 370 | 0.0162 | 6 | c.194 others(23): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CC2D1A_chr19_13901201_13935879 | 13934498 | A | AGTGTGT | downstream_gene_variant | MODIFIER | HG02040.hp2 HG02280.hp2 HG02723.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0004a0004c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(3): Show | a0001c0002t0001g0232a0001c0002t0002g0029a0001c0002t0005g0275others(4): Show | 7 | 370 | 0.0189 | 6 | c.*41 others(17): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 3620 | chr19 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15470649 | A | ATCTCTC | intron_variant | MODIFIER | HG01433.hp2 HG03195.hp1 HG03486.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0002c0005t0001 | a0001c0001t0001g0028a0001c0001t0002g0016a0001c0001t0002g0017others(2): Show | 5 | 344 | 0.0145 | 6 | c.-19 others(21): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15500075 | T | TTGTGTG | intron_variant | MODIFIER | HG01192.hp2 NA18974.hp1 NA19058.hp1 others(2): Show |
a0001a0002 | a0001c0008a0002c0003 | a0001c0008t0002a0002c0003t0001a0002c0003t0002 | a0001c0008t0002g0271a0002c0003t0001g0259a0002c0003t0002g0247others(2): Show | 5 | 344 | 0.0145 | 6 | c.248 others(23): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15500099 | G | GTATACA | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272a0001c0001t0002g0311a0001c0001t0002g0323 | 3 | 344 | 0.0087 | 6 | c.248 others(23): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15500099 | G | GTATATA | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG03942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0109a0001c0001t0001g0178others(2): Show | 5 | 344 | 0.0145 | 6 | c.248 others(23): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15500107 | G | GTGTGTA | intron_variant | MODIFIER | HG01358.hp2 HG02132.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0001a0002c0003t0002a0002c0005t0001 | a0001c0001t0001g0006a0002c0003t0002g0315a0002c0005t0001g0139 | 3 | 344 | 0.0087 | 6 | c.248 others(23): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 95926815 | A | AGTGTGT | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02572.hp1 others(1): Show |
a0006a0010 | a0006c0008a0010c0011 | a0006c0008t0001a0010c0011t0001a0010c0011t0002 | a0006c0008t0001g0063a0010c0011t0001g0153a0010c0011t0002g0151others(1): Show | 4 | 312 | 0.0128 | 6 | c.241 others(21): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 95947078 | C | CAAAAAA | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03471.hp2 others(3): Show |
a0003a0009 | a0003c0003a0009c0012 | a0003c0003t0001a0009c0012t0001 | a0003c0003t0001g0068a0003c0003t0001g0084a0003c0003t0001g0089others(3): Show | 6 | 312 | 0.0192 | 6 | c.802 others(23): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CC2D2B_chr10_95902975_96038745 | 95965785 | T | TTGTGTG | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00741.hp1 others(23): Show |
a0004a0005a0008others(2): Show | a0004c0004a0005c0006a0008c0010others(2): Show | a0004c0004t0001a0005c0006t0001a0008c0010t0001others(2): Show | a0004c0004t0001g0095a0004c0004t0001g0160a0005c0006t0001g0052others(23): Show | 26 | 312 | 0.0833 | 6 | c.125 others(21): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |