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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TECTA_chr11_121096243_121196490 | 121185956 | G | GAATGAGT others(790): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0012 | a0012c0059 | a0012c0059t0001 | a0012c0059t0001g0024 | 1 | 348 | 0.0029 | 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 | a0001c0001t0003g0235 | 1 | 368 | 0.0027 | 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 | a0001c0001t0003g0010 | 1 | 466 | 0.0022 | 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 | a0001c0001t0010 | a0001c0001t0010g0270 | 1 | 388 | 0.0026 | 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 | a0001c0001t0010 | a0001c0001t0010g0242 | 1 | 388 | 0.0026 | 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 | 360 | 0.0028 | 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 | 202 | 0.0050 | 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 | a0001c0005t0015g0155 | 1 | 202 | 0.0050 | 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 | a0001c0002t0007g0033a0001c0002t0007g0034a0001c0004t0007g0125 | 3 | 202 | 0.0149 | 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 | a0001c0001t0002g0030 | 1 | 322 | 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 | a0001c0001t0086 | a0001c0001t0086g0294 | 1 | 337 | 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 | a0001c0003t0004g0236 | 1 | 368 | 0.0027 | 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 | a0007 | a0007c0020 | a0007c0020t0001 | a0007c0020t0001g0092 | 1 | 368 | 0.0027 | 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 | a0001c0001t0003g0267 | 1 | 368 | 0.0027 | 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 | a0001c0001t0003g0340 | 1 | 368 | 0.0027 | 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 | a0001c0001t0003g0300 | 1 | 368 | 0.0027 | 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 | a0036 | a0036c0047 | a0036c0047t0015 | a0036c0047t0015g0151 | 1 | 262 | 0.0038 | 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 | a0015 | a0015c0014 | a0015c0014t0025 | a0015c0014t0025g0060 | 1 | 262 | 0.0038 | 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 | a0008 | a0008c0013 | a0008c0013t0036 | a0008c0013t0036g0015 | 1 | 262 | 0.0038 | 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 | a0008 | a0008c0013 | a0008c0013t0035 | a0008c0013t0035g0078 | 1 | 262 | 0.0038 | 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 | a0006 | a0006c0007 | a0006c0007t0013 | a0006c0007t0013g0213 | 1 | 262 | 0.0038 | 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 | a0001c0001t0044 | a0001c0001t0044g0127 | 1 | 169 | 0.0059 | 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 | a0001c0004t0009a0001c0004t0025a0001c0004t0035others(2): Show | a0001c0004t0009g0294a0001c0004t0009g0295a0001c0004t0009g0296others(7): Show | 10 | 340 | 0.0294 | 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 | a0001c0004t0009g0298 | 1 | 340 | 0.0029 | 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 | a0001c0001t0006g0311a0001c0001t0006g0312 | 2 | 340 | 0.0059 | 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 |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0006a0006c0012t0006 | a0001c0001t0006g0304a0001c0001t0006g0305a0001c0001t0006g0306others(5): Show | 8 | 340 | 0.0235 | 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 | a0001c0007t0021g0302a0001c0007t0021g0303 | 2 | 340 | 0.0059 | 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 | a0003c0013t0052 | a0003c0013t0052g0293 | 1 | 340 | 0.0029 | 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 | a0001c0001t0001g0089a0001c0001t0002g0046a0001c0001t0002g0076others(1): Show | 4 | 266 | 0.0150 | 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 | a0001c0003t0001g0053 | 1 | 391 | 0.0026 | 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 | 300 | 0.0033 | 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 | 300 | 0.0033 | 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 | a0001c0001t0001g0001a0001c0001t0001g0004 | 3 | 412 | 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 | a0001c0001t0001g0209 | 1 | 242 | 0.0041 | 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 | a0001c0001t0001g0072a0001c0001t0001g0105a0001c0001t0001g0107others(38): Show | 41 | 242 | 0.1694 | 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 | a0001c0001t0011g0229a0001c0001t0026g0148 | 2 | 242 | 0.0083 | 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 | 242 | 0.0041 | 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 | a0001c0001t0001g0109a0001c0001t0001g0139a0001c0001t0002g0016others(14): Show | 17 | 242 | 0.0703 | 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 | a0001c0001t0001g0013a0001c0001t0001g0069a0001c0001t0001g0094others(15): Show | 18 | 242 | 0.0744 | 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 | a0001c0001t0005g0179 | 1 | 242 | 0.0041 | 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 | 242 | 0.0041 | 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 | a0001c0001t0003g0040a0001c0001t0003g0176a0001c0001t0029g0182others(2): Show | 5 | 242 | 0.0207 | 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 | a0004 | a0004c0005 | a0004c0005t0025 | a0004c0005t0025g0034 | 1 | 242 | 0.0041 | 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 | a0001c0001t0003g0046a0001c0001t0060g0173 | 2 | 242 | 0.0083 | 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 | a0001c0001t0023g0192a0001c0001t0023g0193 | 2 | 242 | 0.0083 | 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 | a0001c0001t0001g0205a0001c0001t0003g0158a0001c0001t0003g0218 | 3 | 242 | 0.0124 | 798 | c.266 others(815): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231306 | A | AGGTGGGG others(791): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 380 | 0.0026 | 798 | c.-37 others(809): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3590 | chr13 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(791): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0028 | 1 | 336 | 0.0030 | 798 | c.248 others(815): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(791): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0021 | 1 | 336 | 0.0030 | 798 | c.248 others(815): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(791): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18942.hp2 NA18969.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0007 | a0002c0003t0003g0011a0002c0003t0003g0069a0002c0003t0007g0074 | 3 | 336 | 0.0089 | 798 | c.248 others(815): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |