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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBLB_chr3_105650461_105874012 | 105834668 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(43): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0043 others(309): Show |
312 | 378 | 0.8254 | 5 | c.419 others(24): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44774945 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00738.hp2 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0071 a0001c0001t0001g0170 a0001c0001t0001g0181 others(15): Show |
18 | 318 | 0.0566 | 5 | c.-29 others(16): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 2944 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44776162 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0001a0001c0006t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0036 others(29): Show |
41 | 342 | 0.1199 | 5 | c.-17 others(16): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 1727 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44784950 | G | GTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02004.hp1 others(7): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0258 a0003c0003t0001g0062 a0003c0003t0001g0082 others(7): Show |
10 | 134 | 0.0746 | 5 | c.917 others(20): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLL2_chrX_22267913_22279461 | 22271960 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02080.hp1 HG02083.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 9 | 13 | 0.6923 | 5 | c.-10 others(16): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | |||||||
CBLN4_chr20_55992357_56010519 | 55994784 | A | AGCAAT | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01261.hp2 HG02109.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0004 a0001c0001t0006g0007 a0001c0001t0006g0079 |
16 | 424 | 0.0377 | 5 | c.*37 others(16): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 2572 | chr20 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119210603 | A | ATTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG02647.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0005a0001c0002t0006a0001c0002t0022others(2): Show | a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0243 others(8): Show |
11 | 185 | 0.0595 | 5 | c.195 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119260939 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00609.hp2 others(63): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(8): Show | a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0262 others(61): Show |
66 | 157 | 0.4204 | 5 | c.444 others(24): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119264388 | T | TTTCTC | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01256.hp1 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0091 others(22): Show |
25 | 175 | 0.1429 | 5 | c.444 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119270436 | A | ATATTT | intron_variant | MODIFIER | HG01109.hp1 HG01515.hp2 HG02071.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0009others(1): Show | a0001c0001t0002a0001c0001t0004a0002c0003t0002others(2): Show | a0001c0001t0002g0279 a0001c0001t0002g0295 a0001c0001t0002g0297 others(8): Show |
12 | 121 | 0.0992 | 5 | c.444 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119270436 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00609.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0021 | a0001c0001t0002g0257 a0001c0001t0002g0271 a0001c0001t0002g0283 others(11): Show |
14 | 123 | 0.1138 | 5 | c.444 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119270437 | T | TATATA | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019a0001c0001t0031 | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 others(5): Show |
9 | 350 | 0.0257 | 5 | c.444 others(22): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | chr11 | TogoVar | |||||||
CBR3_chr21_36130079_36151562 | 36138103 | T | TTTTAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(151): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0002a0003c0003others(3): Show | a0001c0004t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0004t0001g0157 a0001c0004t0001g0214 a0001c0004t0001g0268 others(107): Show |
154 | 397 | 0.3879 | 5 | c.397 others(20): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36141261 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01109.hp2 others(37): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0002a0004c0006others(2): Show | a0001c0004t0001a0002c0002t0001a0004c0006t0001others(2): Show | a0001c0004t0001g0219 a0001c0004t0001g0221 a0002c0002t0001g0016 others(29): Show |
40 | 101 | 0.3960 | 5 | c.397 others(22): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36146917 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01496.hp2 HG01928.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0171 a0001c0001t0001g0178 others(1): Show |
7 | 124 | 0.0565 | 5 | c.*40 others(14): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 356 | chr21 | TogoVar | |||||||
CBS_chr21_43048191_43080835 | 43079143 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG01167.hp2 others(55): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0080 a0001c0001t0002g0096 a0001c0001t0002g0160 others(43): Show |
58 | 178 | 0.3258 | 5 | c.-34 others(16): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3309 | chr21 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48065294 | T | TTAACA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0263 a0001c0001t0001g0292 a0001c0001t0002g0011 others(91): Show |
98 | 394 | 0.2487 | 5 | c.*61 others(16): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 4764 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48069277 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0029 others(6): Show |
11 | 312 | 0.0353 | 5 | c.*21 others(16): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 781 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48078787 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00733.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0038 others(35): Show |
38 | 300 | 0.1267 | 5 | c.-37 others(22): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48105324 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01169.hp2 HG01256.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0031 others(15): Show |
18 | 66 | 0.2727 | 5 | c.-40 others(16): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 3847 | chr17 | TogoVar | |||||||
CBX3_chr7_26196745_26218607 | 26208917 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG01109.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0061 others(10): Show |
26 | 102 | 0.2549 | 5 | c.330 others(20): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CBX3_chr7_26196745_26218607 | 26208951 | T | TTTTTC | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0046 a0001c0001t0004g0059 a0001c0001t0004g0108 others(2): Show |
6 | 390 | 0.0154 | 5 | c.330 others(20): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
CBX6_chr22_38856422_38877216 | 38859274 | A | ACATCC | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0021 | 3 | 404 | 0.0074 | 5 | c.*69 others(16): Show |
CBX6 | ENSG00000183741.12 | transcript | ENST00000407418.8 | protein_coding | 2147 | chr22 | TogoVar | |||||||
CBY1_chr22_38651638_38678850 | 38674839 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02717.hp2 HG03453.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014 a0001c0001t0001g0095 a0001c0001t0003g0003 others(6): Show |
10 | 138 | 0.0725 | 5 | c.*16 others(16): Show |
CBY1 | ENSG00000100211.12 | transcript | ENST00000216029.8 | protein_coding | 990 | chr22 | TogoVar | |||||||
CBY1_chr22_38651638_38678850 | 38674856 | A | AGAAAG | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 NA19083.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0079 a0001c0002t0002g0089 |
3 | 268 | 0.0112 | 5 | c.*16 others(16): Show |
CBY1 | ENSG00000100211.12 | transcript | ENST00000216029.8 | protein_coding | 1007 | chr22 | TogoVar | |||||||
CBY3_chr5_179673560_179686034 | 179677966 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG01361.hp1 others(26): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0009t0001g0025 |
29 | 335 | 0.0866 | 5 | c.*61 others(14): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 593 | chr5 | TogoVar | |||||||
CBY3_chr5_179673560_179686034 | 179677967 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00642.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(1): Show |
28 | 188 | 0.1489 | 5 | c.*61 others(14): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 592 | chr5 | TogoVar | |||||||
CC2D1A_chr19_13901201_13935879 | 13921995 | T | TTTTTG | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02559.hp2 others(18): Show |
a0004a0017 | a0004c0005a0017c0017 | a0004c0005t0001a0004c0005t0002a0004c0005t0003others(2): Show | a0004c0005t0001g0011 a0004c0005t0001g0018 a0004c0005t0001g0019 others(13): Show |
21 | 368 | 0.0571 | 5 | c.164 others(24): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15502371 | T | TTTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp2 others(92): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0006a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(11): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(92): Show |
95 | 342 | 0.2778 | 5 | c.248 others(18): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15573139 | C | CAAGTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0004others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(34): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(318): Show |
326 | 342 | 0.9532 | 5 | c.359 others(24): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 28/36 | chr4 | TogoVar | |||||||
CC2D2B_chr10_95902975_96038745 | 95934865 | G | GTTTGT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(93): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0027a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 others(93): Show |
96 | 271 | 0.3542 | 5 | c.337 others(22): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95947114 | T | TATATA | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00735.hp2 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0027a0002c0014others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0027t0001others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0003g0029 others(7): Show |
10 | 236 | 0.0424 | 5 | c.802 others(22): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | chr10 | TogoVar | |||||||
CC2D2B_chr10_95902975_96038745 | 96015231 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(43): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0007a0001c0027others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 others(42): Show |
46 | 114 | 0.4035 | 5 | c.351 others(22): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 29/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCAR1_chr10_68716239_68797377 | 68717525 | C | CCCCCT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01433.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0004others(2): Show | a0001c0001t0001g0001 a0001c0003t0002g0047 a0001c0003t0002g0048 others(23): Show |
26 | 355 | 0.0732 | 5 | c.-38 others(16): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 3713 | chr10 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59433891 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01243.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0024others(5): Show | a0001c0001t0004g0040 a0001c0001t0004g0044 a0001c0001t0004g0066 others(22): Show |
25 | 53 | 0.4717 | 5 | c.*20 others(16): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 11/11 | 2016 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59461729 | C | CTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01109.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0002g0133 a0001c0001t0004g0066 a0001c0001t0004g0080 others(13): Show |
16 | 67 | 0.2388 | 5 | c.553 others(22): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59485597 | T | TATTTA | intron_variant | MODIFIER | HG02559.hp2 HG03579.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0154 a0001c0001t0001g0159 |
3 | 240 | 0.0125 | 5 | c.213 others(22): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59508711 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0069 a0001c0001t0001g0130 a0001c0001t0001g0154 others(26): Show |
29 | 148 | 0.1959 | 5 | c.213 others(24): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59542173 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0064 others(49): Show |
52 | 108 | 0.4815 | 5 | c.213 others(24): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59543847 | A | AAAAAG | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0068 a0001c0001t0001g0144 a0001c0001t0002g0230 others(6): Show |
9 | 219 | 0.0411 | 5 | c.213 others(24): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59550998 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG02132.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0034 | a0001c0001t0001g0025 a0001c0001t0001g0084 a0001c0001t0001g0195 others(2): Show |
5 | 34 | 0.1471 | 5 | c.213 others(24): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59595114 | C | CAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0086 a0001c0001t0001g0199 a0001c0001t0003g0211 others(7): Show |
10 | 173 | 0.0578 | 5 | c.212 others(26): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59632771 | G | GTTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(168): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 others(168): Show |
171 | 240 | 0.7125 | 5 | c.212 others(24): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59635415 | C | CTGAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(72): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0047 others(72): Show |
75 | 147 | 0.5102 | 5 | c.212 others(24): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59698216 | G | GCCCCC | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00738.hp2 others(22): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0019 a0001c0001t0001g0062 a0001c0001t0001g0068 others(22): Show |
25 | 134 | 0.1866 | 5 | c.-87 others(14): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 794 | chr18 | TogoVar | |||||||
CCDC102A_chr16_57507181_57541571 | 57520536 | A | AATAAC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(53): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0008 a0001c0001t0001g0106 a0001c0001t0001g0140 others(43): Show |
56 | 108 | 0.5185 | 5 | c.921 others(20): Show |
CCDC102A | ENSG00000135736.6 | transcript | ENST00000258214.3 | protein_coding | 4/8 | chr16 | TogoVar | |||||||
CCDC102B_chr18_68793080_69060189 | 68853360 | A | ACTTCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0007others(30): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032 others(191): Show |
195 | 214 | 0.9112 | 5 | c.936 others(22): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68864575 | C | CACTAA | intron_variant | MODIFIER | HG00621.hp1 NA18964.hp1 NA18971.hp2 others(3): Show |
a0002a0006a0028 | a0002c0005a0006c0012a0028c0033 | a0002c0005t0001a0006c0012t0001a0028c0033t0001 | a0002c0005t0001g0198 a0006c0012t0001g0034 a0006c0012t0001g0070 others(3): Show |
6 | 214 | 0.0280 | 5 | c.937 others(24): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 68942934 | C | CGGCCT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(90): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0007others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(26): Show | a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0062 others(90): Show |
93 | 214 | 0.4346 | 5 | c.126 others(26): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC102B_chr18_68793080_69060189 | 69009924 | A | ATTTTT | intron_variant | MODIFIER | HG01175.hp2 HG01258.hp1 HG02698.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0096 a0001c0001t0001g0205 a0001c0003t0001g0099 others(3): Show |
6 | 19 | 0.3158 | 5 | c.126 others(22): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |