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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CBFB_chr16_67024149_67106058 | 67075197 | A | ATACGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0188 a0001c0001t0005g0190 a0001c0001t0005g0194 others(1): Show |
4 | 51 | 0.0784 | 8 | c.400 others(25): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67075197 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01069.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0084 a0001c0001t0001g0105 a0001c0001t0001g0106 others(12): Show |
15 | 62 | 0.2419 | 8 | c.400 others(25): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67084165 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0011 others(2): Show |
5 | 31 | 0.1613 | 8 | c.495 others(25): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105665408 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18944.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0042 | a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0042g0179 |
3 | 329 | 0.0091 | 8 | c.268 others(27): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105669065 | A | AATCCATC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(160): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0043 others(160): Show |
163 | 164 | 0.9939 | 8 | c.268 others(27): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754529 | G | GAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01106.hp2 others(17): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0004g0173 a0001c0001t0004g0177 a0001c0001t0004g0192 others(17): Show |
20 | 256 | 0.0781 | 8 | c.567 others(25): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105780653 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG00741.hp2 others(23): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0022 | a0001c0001t0003a0001c0002t0007a0001c0002t0010others(2): Show | a0001c0001t0003g0134 a0001c0002t0007g0005 a0001c0002t0007g0008 others(23): Show |
26 | 357 | 0.0728 | 8 | c.420 others(25): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105821260 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00609.hp1 others(95): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(22): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0043 others(95): Show |
98 | 174 | 0.5632 | 8 | c.419 others(27): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105873380 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 HG02074.hp2 HG03453.hp2 others(1): Show |
a0001a0008 | a0001c0003a0001c0009a0001c0011others(1): Show | a0001c0003t0005a0001c0009t0004a0001c0011t0046others(1): Show | a0001c0003t0005g0334 a0001c0009t0004g0201 a0001c0011t0046g0378 others(1): Show |
4 | 46 | 0.0870 | 8 | c.-46 others(19): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4369 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105873411 | C | CACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01106.hp1 others(18): Show |
a0001a0002a0006 | a0001c0002a0001c0019a0002c0005others(1): Show | a0001c0002t0007a0001c0002t0010a0001c0019t0027others(2): Show | a0001c0002t0007g0005 a0001c0002t0007g0008 a0001c0002t0007g0009 others(18): Show |
21 | 369 | 0.0569 | 8 | c.-46 others(19): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4400 | chr3 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44774129 | G | GGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02572.hp2 HG02647.hp1 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0004c0004t0001 | a0001c0001t0001g0002 a0003c0003t0001g0111 a0003c0003t0001g0112 others(6): Show |
9 | 311 | 0.0289 | 8 | c.-38 others(19): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 3760 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44774130 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02559.hp1 HG02698.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0002c0007others(3): Show | a0001c0001t0001a0001c0006t0001a0002c0007t0001others(3): Show | a0001c0001t0001g0252 a0001c0006t0001g0119 a0002c0007t0001g0014 others(4): Show |
8 | 148 | 0.0541 | 8 | c.-38 others(19): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 3759 | chr19 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44779553 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02258.hp1 HG02280.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0009others(4): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(4): Show | a0001c0001t0001g0036 a0001c0006t0001g0049 a0001c0009t0001g0060 others(12): Show |
17 | 311 | 0.0547 | 8 | c.353 others(25): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44797574 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00735.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0009others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(5): Show | a0001c0001t0001g0074 a0001c0001t0001g0104 a0001c0001t0001g0105 others(27): Show |
30 | 312 | 0.0962 | 8 | c.136 others(27): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44804794 | G | GTCACCTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp1 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0009others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(5): Show | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0045 others(52): Show |
56 | 342 | 0.1637 | 8 | c.*42 others(19): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 4143 | chr19 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59827460 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG02135.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 others(3): Show |
6 | 29 | 0.2069 | 8 | c.*20 others(19): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 1812 | chr11 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59834299 | T | TCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0064 |
3 | 317 | 0.0095 | 8 | c.107 others(27): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59834303 | T | TCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 NA18955.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0071 a0001c0001t0001g0125 a0002c0002t0001g0195 others(3): Show |
6 | 287 | 0.0209 | 8 | c.107 others(27): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59834307 | T | TCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01928.hp1 HG02615.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0019 a0001c0001t0001g0078 a0001c0001t0001g0117 others(3): Show |
10 | 189 | 0.0529 | 8 | c.107 others(27): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59834311 | T | TCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01071.hp2 HG01106.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0024 others(5): Show |
19 | 28 | 0.6786 | 8 | c.107 others(27): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59834311 | T | TCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01256.hp2 HG01258.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0023 a0001c0001t0001g0061 a0001c0001t0001g0147 others(3): Show |
8 | 17 | 0.4706 | 8 | c.107 others(27): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | |||||||
CBLN2_chr18_72531681_72549342 | 72542909 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01952.hp1 HG02015.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0003a0001c0003t0002others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0058 others(6): Show |
27 | 77 | 0.3506 | 8 | c.-16 others(25): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 2/4 | chr18 | TogoVar | |||||||
CBLN4_chr20_55992357_56010519 | 56010246 | G | GTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01123.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0019 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0014g0023 others(1): Show |
10 | 93 | 0.1075 | 8 | c.-60 others(19): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 4728 | chr20 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119216339 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02615.hp2 others(19): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(19): Show |
22 | 122 | 0.1803 | 8 | c.195 others(25): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119236595 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03453.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0058a0001c0001t0061 | a0001c0001t0013g0030 a0001c0001t0058g0018 a0001c0001t0061g0255 |
3 | 78 | 0.0385 | 8 | c.443 others(25): 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(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0001g0141 a0001c0001t0001g0163 a0001c0001t0001g0167 others(16): Show |
19 | 110 | 0.1727 | 8 | c.444 others(27): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119266018 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(61): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0013 a0001c0001t0001g0137 a0001c0001t0001g0139 others(61): Show |
64 | 157 | 0.4076 | 8 | 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 | 119277239 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(34): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0007c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0002g0258 others(32): Show |
37 | 160 | 0.2313 | 8 | c.100 others(25): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119277241 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02257.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0024 | a0001c0002t0006g0037 a0001c0002t0006g0038 a0001c0002t0006g0040 others(4): Show |
7 | 92 | 0.0761 | 8 | c.100 others(25): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48101948 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02965.hp2 HG02970.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0314 others(11): Show |
15 | 61 | 0.2459 | 8 | c.-71 others(17): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 471 | chr17 | TogoVar | |||||||
CBX3_chr7_26196745_26218607 | 26208917 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01496.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016 | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0060 others(6): Show |
28 | 104 | 0.2692 | 8 | c.330 others(23): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CBX3_chr7_26196745_26218607 | 26212582 | T | TTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02922.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 |
3 | 230 | 0.0130 | 8 | c.*39 others(17): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 6/6 | 406 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CBX4_chr17_79828156_79844440 | 79828524 | T | TCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0004g0057 a0001c0001t0004g0060 |
3 | 69 | 0.0435 | 8 | c.*54 others(19): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 4631 | chr17 | TogoVar | |||||||
CBX5_chr12_54225942_54285122 | 54229272 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00673.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0002g0001 a0001c0001t0002g0156 a0001c0001t0002g0158 others(35): Show |
41 | 162 | 0.2531 | 8 | c.*12 others(21): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 1669 | chr12 | TogoVar | |||||||
CBY3_chr5_179673560_179686034 | 179676225 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show |
69 | 158 | 0.4367 | 8 | c.*23 others(19): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 2334 | chr5 | TogoVar | |||||||
CBY3_chr5_179673560_179686034 | 179677966 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 HG02572.hp2 HG02922.hp1 others(1): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0003t0001g0009 |
4 | 310 | 0.0129 | 8 | c.*61 others(17): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 593 | chr5 | TogoVar | |||||||
CC2D1A_chr19_13901201_13935879 | 13926065 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp2 others(10): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0030 others(7): Show |
13 | 312 | 0.0417 | 8 | c.194 others(25): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15493245 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0196 a0001c0001t0001g0227 a0001c0001t0001g0229 others(3): Show |
6 | 274 | 0.0219 | 8 | c.248 others(25): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15500099 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02293.hp2 NA18995.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0180 a0001c0001t0001g0201 a0001c0001t0001g0224 others(1): Show |
4 | 302 | 0.0132 | 8 | c.248 others(25): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2A_chr4_15464882_15606552 | 15524447 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01952.hp2 HG02148.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0113 a0001c0001t0001g0198 a0001c0001t0001g0236 others(7): Show |
10 | 212 | 0.0472 | 8 | c.115 others(27): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95926815 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03195.hp1 HG04199.hp1 others(1): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0006c0008t0001 | a0003c0003t0001g0063 a0006c0008t0001g0117 a0006c0008t0001g0129 others(1): Show |
4 | 163 | 0.0245 | 8 | c.241 others(23): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95993940 | G | GTATGTAT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02970.hp2 NA19072.hp2 |
a0002a0004 | a0002c0002a0002c0005a0004c0004 | a0002c0002t0001a0002c0005t0001a0004c0004t0001 | a0002c0002t0001g0102 a0002c0005t0001g0278 a0004c0004t0001g0157 |
3 | 253 | 0.0119 | 8 | c.264 others(27): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96000333 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18995.hp2 NA19079.hp1 others(1): Show |
a0001a0003a0011 | a0001c0001a0003c0003a0011c0032 | a0001c0001t0002a0003c0003t0002a0011c0032t0001 | a0001c0001t0002g0238 a0003c0003t0002g0065 a0003c0003t0002g0066 others(1): Show |
4 | 175 | 0.0229 | 8 | c.285 others(27): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 24/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96003586 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01109.hp1 others(27): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0004a0002c0002t0001others(7): Show | a0001c0001t0001g0044 a0001c0001t0001g0179 a0001c0001t0001g0202 others(27): Show |
30 | 48 | 0.6250 | 8 | c.285 others(25): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 24/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96029274 | A | ATGTATAT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG02451.hp2 others(1): Show |
a0001a0013 | a0001c0001a0013c0013 | a0001c0001t0003a0013c0013t0003 | a0001c0001t0003g0030 a0001c0001t0003g0050 a0001c0001t0003g0184 others(1): Show |
4 | 285 | 0.0140 | 8 | c.412 others(27): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCAR1_chr10_68716239_68797377 | 68752883 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02055.hp2 HG02109.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0228 others(11): Show |
14 | 88 | 0.1591 | 8 | c.111 others(25): Show |
CCAR1 | ENSG00000060339.14 | transcript | ENST00000265872.11 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCAR2_chr8_22599757_22625471 | 22611388 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(203): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(102): Show |
206 | 242 | 0.8512 | 8 | c.585 others(25): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59430692 | A | AATCTCAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(194): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(194): Show |
197 | 240 | 0.8208 | 8 | c.*52 others(19): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 246 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59460936 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(53): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(53): Show |
56 | 113 | 0.4956 | 8 | c.553 others(25): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 5/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59477538 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023 | a0001c0001t0003g0046 a0001c0001t0023g0226 a0001c0001t0023g0227 |
3 | 40 | 0.0750 | 8 | c.265 others(25): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar |