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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARS1_chr11_2995929_3062423 | 3049865 | AGCAGAGT others(10): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 320 | 0.0031 | -17 | c.26- others(32): Show |
CARS1 | ENSG00000110619.18 | transcript | ENST00000380525.9 | protein_coding | 1/22 | chr11 | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41729768 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0160 | 1 | 162 | 0.0062 | -17 | c.429 others(34): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 5/26 | chrX | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705988 | AAAAAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 414 | 0.0024 | -17 | c.-26 others(28): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2544 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705990 | AAAAAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG03516.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080 a0001c0001t0002g0085 |
2 | 414 | 0.0048 | -17 | c.-26 others(28): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2546 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705992 | AAAAAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 a0001c0001t0003g0091 |
2 | 411 | 0.0049 | -17 | c.-26 others(28): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2548 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705994 | AAAAAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01433.hp1 HG01993.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0003g0003 others(8): Show |
19 | 409 | 0.0465 | -17 | c.-26 others(28): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2550 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705996 | AAAAAAAT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 HG03225.hp2 NA18940.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0003a0004c0005t0003others(1): Show | a0001c0001t0002g0087 a0001c0001t0003g0003 a0001c0001t0003g0040 others(3): Show |
8 | 401 | 0.0200 | -17 | c.-26 others(28): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2552 | chr4 | TogoVar | |||||||
CASP6_chr4_109683628_109708445 | 109705998 | AAAAATAT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 405 | 0.0025 | -17 | c.-26 others(28): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2554 | chr4 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113675428 | ACCCACAG others(10): Show |
A | upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0312 | 1 | 404 | 0.0025 | -17 | c.-45 others(28): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 4483 | chr10 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74960700 | ATATATAT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01993.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0073 | a0001c0001t0020g0199 a0001c0001t0073g0006 |
2 | 225 | 0.0089 | -17 | c.-42 others(28): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4004 | chr7 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 74999601 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0034a0001c0001t0066 | a0001c0001t0028g0219 a0001c0001t0034g0105 a0001c0001t0066g0089 |
3 | 14 | 0.2143 | -17 | c.114 others(34): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96752550 | ATAACCTC others(10): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0004a0001c0017t0001 | a0001c0001t0004g0264 a0001c0001t0004g0281 a0001c0017t0001g0027 |
3 | 73 | 0.0411 | -17 | c.152 others(36): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10792325 | CCGCCCCC others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0004 | a0001c0001t0001g0163 a0001c0011t0004g0164 |
2 | 201 | 0.0100 | -17 | c.-23 others(36): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5715643 | TAAAAAAA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0096 others(16): Show |
19 | 92 | 0.2065 | -17 | c.-50 others(28): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4993 | chr19 | TogoVar | |||||||
CATSPERD_chr19_5715637_5783734 | 5751197 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp2 HG02818.hp2 others(5): Show |
a0001a0026 | a0001c0001a0026c0032 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0116 a0001c0001t0001g0138 a0001c0001t0001g0146 others(5): Show |
8 | 19 | 0.4211 | -17 | c.988 others(32): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAT_chr11_34433934_34477060 | 34441561 | GAGGTGGG others(10): Show |
G | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0267 | 1 | 422 | 0.0024 | -17 | c.66+ others(32): Show |
CAT | ENSG00000121691.7 | transcript | ENST00000241052.5 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
CAV3_chr3_8728802_8751758 | 8745478 | AAGCGGGT others(10): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01123.hp1 HG01515.hp2 others(3): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0014a0001c0007t0005 | a0001c0003t0014g0061 a0001c0007t0005g0040 a0001c0007t0005g0077 others(2): Show |
6 | 474 | 0.0127 | -17 | c.115 others(30): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42410892 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0076 a0001c0001t0015g0055 a0001c0001t0015g0056 others(1): Show |
4 | 5 | 0.8000 | -17 | c.472 others(34): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42413565 | GGAAAAAA others(10): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 295 | 0.0034 | -17 | c.472 others(34): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33529010 | AGTTTGTT others(10): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0160 | 1 | 296 | 0.0034 | -17 | c.34+ others(34): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33643791 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0192 | 1 | 295 | 0.0034 | -17 | c.148 others(34): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33652534 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0282 | 1 | 8 | 0.1250 | -17 | c.*78 others(28): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 2505 | chr20 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88873828 | CGTGCTGA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp1 NA18969.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0109 others(1): Show |
4 | 282 | 0.0142 | -17 | c.*31 others(28): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1029 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88905670 | TGGGGCTG others(10): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0140 | 1 | 281 | 0.0036 | -17 | c.152 others(34): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88975806 | TCTCCAGA others(10): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 282 | 0.0035 | -17 | c.151 others(32): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105755016 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(94): Show |
a0001a0005a0010 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(12): Show | a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0177 others(94): Show |
97 | 172 | 0.5640 | -17 | c.567 others(34): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105829666 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02717.hp1 NA19043.hp2 |
a0001 | a0001c0014 | a0001c0014t0021 | a0001c0014t0021g0300 a0001c0014t0021g0301 |
2 | 9 | 0.2222 | -17 | c.419 others(36): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | |||||||
CBLC_chr19_44772890_44805652 | 44784950 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 125 | 0.0080 | -17 | c.917 others(32): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CBLL2_chrX_22267913_22279461 | 22271960 | GTTTTTTT others(10): Show |
G | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02074.hp1 NA18979.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 10 | 0.6000 | -17 | c.-10 others(28): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | |||||||
CBLN1_chr16_49272917_49286838 | 49282352 | CAGCCGGC others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(107): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0002 a0001c0001t0003g0010 a0001c0001t0003g0022 others(11): Show |
110 | 394 | 0.2792 | -17 | c.-90 others(26): Show |
CBLN1 | ENSG00000102924.13 | transcript | ENST00000219197.11 | protein_coding | 515 | chr16 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119266783 | ATGACCTC others(10): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 362 | 0.0028 | -17 | c.444 others(34): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | chr11 | TogoVar | |||||||
CBR3_chr21_36130079_36151562 | 36137533 | AGGAAGGA others(10): Show |
A | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 422 | 0.0024 | -17 | c.290 others(32): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBS_chr21_43048191_43080835 | 43077083 | GAAAAAAA others(10): Show |
G | upstream_gene_variant | MODIFIER | HG02132.hp2 HG03486.hp2 |
a0001a0002 | a0001c0012a0002c0003 | a0001c0012t0002a0002c0003t0004 | a0001c0012t0002g0126 a0002c0003t0004g0163 |
2 | 23 | 0.0870 | -17 | c.-14 others(28): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1249 | chr21 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48080944 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 387 | 0.0026 | -17 | c.-37 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48080946 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 374 | 0.0027 | -17 | c.-37 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48080948 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0065 |
2 | 364 | 0.0055 | -17 | c.-37 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48080950 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0040 a0001c0001t0005g0119 |
2 | 360 | 0.0056 | -17 | c.-37 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48080952 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01243.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0068 |
2 | 361 | 0.0055 | -17 | c.-37 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48084202 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 70 | 0.0143 | -17 | c.-37 others(34): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CBX3_chr7_26196745_26218607 | 26217320 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01516.hp2 HG01884.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0019 a0001c0001t0006g0056 a0001c0001t0006g0057 others(3): Show |
6 | 35 | 0.1714 | -17 | c.*51 others(28): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 3714 | chr7 | TogoVar | |||||||
CC2D2A_chr4_15464882_15606552 | 15468497 | AACAGAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 342 | 0.0029 | -17 | c.-15 others(28): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1384 | chr4 | TogoVar | |||||||
CC2D2B_chr10_95902975_96038745 | 95947107 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0020 | a0020c0039 | a0020c0039t0001 | a0020c0039t0001g0003 | 1 | 308 | 0.0032 | -17 | c.802 others(34): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCAR2_chr8_22599757_22625471 | 22616880 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 374 | 0.0027 | -17 | c.184 others(34): Show |
CCAR2 | ENSG00000158941.17 | transcript | ENST00000308511.9 | protein_coding | 14/20 | chr8 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59601010 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02738.hp1 HG02818.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0199 a0001c0001t0002g0133 a0001c0001t0002g0230 others(3): Show |
6 | 47 | 0.1277 | -17 | c.212 others(36): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658341 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 240 | 0.0042 | -17 | c.212 others(36): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658351 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0130 |
2 | 234 | 0.0085 | -17 | c.212 others(36): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658353 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0204 | 1 | 230 | 0.0043 | -17 | c.212 others(36): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658355 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0075 | 1 | 191 | 0.0052 | -17 | c.212 others(36): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658400 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0029 | 1 | 239 | 0.0042 | -17 | c.212 others(36): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC110_chr4_185440182_185476733 | 185443921 | CTTTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01433.hp2 HG01934.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0128 a0001c0001t0001g0231 others(17): Show |
21 | 26 | 0.8077 | -17 | c.*15 others(28): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1260 | chr4 | TogoVar |