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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(790): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0029 | 1 | 2 | 0.5000 | 797 | c.227 others(816): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(790): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02055.hp2 HG02129.hp2 others(6): Show |
a0001a0002 | a0001c0007a0001c0009a0001c0013others(3): Show | a0001c0007t0001a0001c0007t0014a0001c0009t0001others(5): Show | a0001c0007t0001g0095 a0001c0007t0014g0055 a0001c0009t0001g0057 others(6): Show |
9 | 10 | 0.9000 | 797 | c.227 others(816): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(790): Show |
intron_variant | MODIFIER | NA19007.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0081 a0001c0001t0003g0122 |
2 | 3 | 0.6667 | 797 | c.227 others(816): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(790): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0080 | a0001c0001t0010g0099 a0001c0001t0010g0102 a0001c0001t0010g0103 others(2): Show |
5 | 7 | 0.7143 | 797 | c.597 others(814): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(790): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0006 | a0006c0059 | a0006c0059t0001 | a0006c0059t0001g0025 | 1 | 171 | 0.0058 | 797 | c.600 others(816): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM120A_chr7_75981831_75999595 | 75988926 | T | TGGGGGGG others(790): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 239 | 0.0042 | 797 | c.377 others(812): Show |
TMEM120A | ENSG00000189077.11 | transcript | ENST00000493111.7 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930685 | G | GTTAGGGA others(790): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 166 | 0.0060 | 797 | c.*49 others(808): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4684 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507363 | C | CATACGTA others(790): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0224 | 1 | 365 | 0.0027 | 797 | c.-23 others(814): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507402 | C | CATACGTA others(790): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0230 | 1 | 371 | 0.0027 | 797 | c.-23 others(814): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCACC others(790): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 50 | 0.0200 | 797 | c.*24 others(808): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(790): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0035 | 1 | 2 | 0.5000 | 797 | c.*53 others(808): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(790): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0005 | a0001c0005t0015 | a0001c0005t0015g0156 | 1 | 2 | 0.5000 | 797 | c.*53 others(808): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(790): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 HG02970.hp2 NA18522.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0007a0001c0004t0007 | a0001c0002t0007g0033 a0001c0002t0007g0034 a0001c0004t0007g0126 |
3 | 4 | 0.7500 | 797 | c.*53 others(808): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
ZNF627_chr19_11592483_11624161 | 11613148 | T | TCCCCTCC others(790): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 319 | 0.0031 | 797 | c.4-1 others(810): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173308 | C | CCAACACA others(791): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0302 | 1 | 335 | 0.0030 | 798 | c.61+ others(813): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111144 | T | TCTCCTAA others(791): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0206 | 1 | 294 | 0.0034 | 798 | c.401 others(815): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111508 | A | ACCACAGA others(791): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0004 | a0004c0020 | a0004c0020t0001 | a0004c0020t0001g0215 | 1 | 359 | 0.0028 | 798 | c.401 others(815): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111515 | A | ACACCTCC others(791): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 215 | 0.0047 | 798 | c.401 others(815): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111555 | G | GGGCACCT others(791): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0335 | 1 | 254 | 0.0039 | 798 | c.401 others(815): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111893 | A | ACACCTCC others(791): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0317 | 1 | 158 | 0.0063 | 798 | c.401 others(815): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(791): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0014 | a0002c0014t0016 | a0002c0014t0016g0147 | 1 | 7 | 0.1429 | 798 | c.775 others(813): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(791): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0006 | a0006c0013 | a0006c0013t0024 | a0006c0013t0024g0060 | 1 | 7 | 0.1429 | 798 | c.775 others(813): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(791): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0012 | a0003c0012t0034 | a0003c0012t0034g0015 | 1 | 7 | 0.1429 | 798 | c.775 others(813): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(791): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0012 | a0003c0012t0033 | a0003c0012t0033g0078 | 1 | 7 | 0.1429 | 798 | c.775 others(813): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113435584 | C | CAGGTGTA others(791): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0006 | a0002c0006t0013 | a0002c0006t0013g0213 | 1 | 69 | 0.0145 | 798 | c.380 others(815): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(791): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0129 | 1 | 112 | 0.0089 | 798 | c.48- others(815): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(791): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02258.hp1 others(7): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0009a0001c0004t0025a0001c0004t0053others(1): Show | a0001c0004t0009g0291 a0001c0004t0009g0292 a0001c0004t0009g0293 others(7): Show |
10 | 119 | 0.0840 | 798 | c.352 others(815): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(791): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0296 | 1 | 110 | 0.0091 | 798 | c.352 others(815): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(791): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0309 a0001c0001t0006g0310 |
2 | 111 | 0.0180 | 798 | c.352 others(815): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(791): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02280.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0006a0005c0012t0006 | a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0006g0304 others(5): Show |
8 | 117 | 0.0684 | 798 | c.352 others(815): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(791): Show |
intron_variant | MODIFIER | NA19087.hp1 NA19090.hp1 |
a0001 | a0001c0007 | a0001c0007t0021 | a0001c0007t0021g0300 a0001c0007t0021g0301 |
2 | 111 | 0.0180 | 798 | c.352 others(815): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCT others(791): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0013 | a0003c0013t0050 | a0003c0013t0050g0290 | 1 | 110 | 0.0091 | 798 | c.352 others(815): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(791): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18957.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0230 a0001c0001t0002g0185 a0001c0001t0002g0220 others(1): Show |
4 | 10 | 0.4000 | 798 | c.446 others(817): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(791): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 223 | 0.0045 | 798 | c.*36 others(809): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(791): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 8 | 0.1250 | 798 | c.-70 others(807): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(791): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 8 | 0.1250 | 798 | c.-70 others(807): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
CBY3_chr5_179673560_179686034 | 179683309 | T | TTTTTTAG others(791): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 NA18951.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
3 | 410 | 0.0073 | 798 | c.-23 others(809): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 2276 | chr5 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 2 | 0.5000 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00733.hp2 others(38): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0102 others(38): Show |
41 | 42 | 0.9762 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG02055.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0026 | a0001c0001t0011g0229 a0001c0001t0026g0148 |
2 | 3 | 0.6667 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0237 | 1 | 2 | 0.5000 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG02109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0109 a0001c0001t0001g0139 a0001c0001t0002g0016 others(14): Show |
17 | 18 | 0.9444 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0064 a0001c0001t0001g0077 others(15): Show |
18 | 19 | 0.9474 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0178 | 1 | 2 | 0.5000 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 2 | 0.5000 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02886.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0029a0001c0001t0035others(1): Show | a0001c0001t0003g0035 a0001c0001t0003g0176 a0001c0001t0029g0182 others(2): Show |
5 | 6 | 0.8333 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0005 | a0003c0005t0025 | a0003c0005t0025g0034 | 1 | 2 | 0.5000 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0060 | a0001c0001t0003g0046 a0001c0001t0060g0170 |
2 | 3 | 0.6667 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0226 a0001c0001t0023g0227 |
2 | 3 | 0.6667 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(791): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0199 a0001c0001t0003g0158 a0001c0001t0003g0211 |
3 | 4 | 0.7500 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar |