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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2108): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01358.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(2): Show |
5 | 49 | 0.1020 | 2115 | c.125 others(2134): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2108): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0115 a0001c0001t0013g0116 |
2 | 46 | 0.0435 | 2115 | c.125 others(2134): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2108): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0022 | a0022c0032 | a0022c0032t0008 | a0022c0032t0008g0089 | 1 | 32 | 0.0313 | 2115 | c.218 others(2130): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432039 | C | CAGGGTGG others(2108): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0013 | 1 | 226 | 0.0044 | 2115 | c.101 others(2132): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432128 | A | ATAGGATG others(2108): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0296 | 1 | 336 | 0.0030 | 2115 | c.101 others(2132): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DELE1_chr5_141918871_141947047 | 141922981 | A | ATTTTTGT others(2109): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 366 | 0.0027 | 2116 | c.-96 others(2125): Show |
DELE1 | ENSG00000081791.9 | transcript | ENST00000432126.7 | protein_coding | 889 | chr5 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3316036 | A | ATCACCAC others(2109): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 231 | 0.0043 | 2116 | c.259 others(2135): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2109): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0125 | 1 | 45 | 0.0222 | 2116 | c.125 others(2135): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2109): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 45 | 0.0222 | 2116 | c.125 others(2135): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2109): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0024 a0001c0001t0006g0029 a0001c0001t0006g0030 others(3): Show |
6 | 50 | 0.1200 | 2116 | c.125 others(2135): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2109): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01891.hp1 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0011a0001c0001t0029others(1): Show | a0001c0001t0007g0119 a0001c0001t0007g0120 a0001c0001t0007g0121 others(9): Show |
12 | 56 | 0.2143 | 2116 | c.125 others(2135): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2109): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01106.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0019others(2): Show | a0001c0001t0004g0140 a0001c0001t0004g0143 a0001c0001t0004g0146 others(14): Show |
18 | 62 | 0.2903 | 2116 | c.125 others(2135): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2109): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 a0001c0001t0003g0110 |
2 | 46 | 0.0435 | 2116 | c.125 others(2135): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2109): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG03453.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0030 | a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 others(4): Show |
7 | 51 | 0.1373 | 2116 | c.125 others(2135): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2109): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01256.hp2 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0016 | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(13): Show |
16 | 60 | 0.2667 | 2116 | c.125 others(2135): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2109): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0027 | a0001c0001t0005g0132 a0001c0001t0005g0134 a0001c0001t0005g0135 others(3): Show |
6 | 50 | 0.1200 | 2116 | c.125 others(2135): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2109): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 a0001c0001t0005g0131 |
2 | 46 | 0.0435 | 2116 | c.125 others(2135): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953879 | C | CCACCCCA others(2109): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 267 | 0.0037 | 2116 | c.503 others(2131): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
SIN3A_chr15_75364379_75456690 | 75424997 | T | TTTTAAAT others(2109): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 322 | 0.0031 | 2116 | c.190 others(2133): Show |
SIN3A | ENSG00000169375.17 | transcript | ENST00000394947.8 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
TPGS2_chr18_36789108_36834002 | 36827967 | G | GAGGTCGA others(2109): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 334 | 0.0030 | 2116 | c.85+ others(2129): Show |
TPGS2 | ENSG00000134779.15 | transcript | ENST00000334295.9 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2110): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0249 | 1 | 50 | 0.0200 | 2117 | c.147 others(2134): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045802 | G | GACACCTC others(2110): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0011 | a0003c0011t0006 | a0003c0011t0006g0142 | 1 | 384 | 0.0026 | 2117 | c.109 others(2132): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2110): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0138 | 1 | 254 | 0.0039 | 2117 | c.109 others(2132): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585260 | G | GTGTTGAG others(2110): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0280 | 1 | 346 | 0.0029 | 2117 | c.-22 others(2134): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2110): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016 | a0001c0001t0015g0075 a0001c0001t0016g0114 |
2 | 3 | 0.6667 | 2117 | c.-52 others(2138): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2110): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0033 | 1 | 45 | 0.0222 | 2117 | c.125 others(2136): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 87046752 | C | CCAGGCTG others(2110): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0127 | 1 | 45 | 0.0222 | 2117 | c.125 others(2136): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2110): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0025 | a0025c0031 | a0025c0031t0032 | a0025c0031t0032g0275 | 1 | 32 | 0.0313 | 2117 | c.218 others(2132): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(2110): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 154 | 0.0065 | 2117 | c.360 others(2136): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2110): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0045 | 1 | 4 | 0.2500 | 2117 | c.291 others(2136): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2110): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0023 | 1 | 35 | 0.0286 | 2117 | c.-28 others(2136): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2111): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0080 | 1 | 2 | 0.5000 | 2118 | c.-52 others(2139): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2111): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 69 | 0.0145 | 2118 | c.*52 others(2129): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
HRNR_chr1_152207076_152229193 | 152215377 | A | ATGTCGGC others(2111): Show |
disruptive_inframe_insertion | MODERATE | NA18947.hp1 | a0001 | a0001c0111 | a0001c0111t0001 | a0001c0111t0001g0119 | 1 | 320 | 0.0031 | 2118 | c.625 others(2127): Show |
p.His others(2133): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6327/9629 | 6251/8553 | 2084/2850 | chr1 | TogoVar | |||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2111): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 436 | 0.0023 | 2118 | c.*63 others(2127): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | |||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2111): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 436 | 0.0023 | 2118 | c.*63 others(2127): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(2112): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0072 | 1 | 17 | 0.0588 | 2119 | c.*11 others(2140): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2112): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0219 | 1 | 224 | 0.0045 | 2119 | c.*39 others(2130): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2112): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01516.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0127 a0002c0003t0002g0128 |
2 | 44 | 0.0455 | 2119 | c.-12 others(2140): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2112): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 436 | 0.0023 | 2119 | c.*63 others(2128): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | |||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2112): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 436 | 0.0023 | 2119 | c.*63 others(2128): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | |||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2112): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0076 |
2 | 437 | 0.0046 | 2119 | c.*63 others(2128): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | |||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2112): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 436 | 0.0023 | 2119 | c.*63 others(2128): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2113): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0019 | a0019c0068 | a0019c0068t0005 | a0019c0068t0005g0001 | 1 | 13 | 0.0769 | 2120 | c.354 others(2139): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2113): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 39 | 0.0256 | 2120 | c.177 others(2139): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2113): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 39 | 0.0256 | 2120 | c.177 others(2139): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198155 | C | TGAAGGCA others(2113): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0002 | 1 | 142 | 0.0070 | 2120 | c.646 others(2132): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2113): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 144 | 0.0069 | 2120 | c.*17 others(2131): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2113): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 172 | 0.0058 | 2120 | c.*22 others(2131): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2113): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 172 | 0.0058 | 2120 | c.*22 others(2131): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar |