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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1008): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0267 | 1 | 8 | 0.1250 | 1015 | c.285 others(1034): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585313 | C | CAGAGGTG others(1008): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0294 | 1 | 117 | 0.0085 | 1015 | c.-22 others(1032): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585521 | A | ATGTTGAG others(1008): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0095 | 1 | 142 | 0.0070 | 1015 | c.-22 others(1032): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585521 | A | ATGTTGAG others(1008): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0111 | 1 | 142 | 0.0070 | 1015 | c.-22 others(1032): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CALY_chr10_133319072_133341896 | 133334332 | C | CTCTGAAG others(1008): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 2 | 248 | 0.0081 | 1015 | c.-21 others(1032): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17431973 | G | GCTTTGTG others(1008): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG02970.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0010a0001c0001t0024a0001c0008t0032others(3): Show | a0001c0001t0010g0014 a0001c0001t0024g0196 a0001c0008t0032g0015 others(3): Show |
6 | 317 | 0.0189 | 1015 | c.127 others(1034): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(1008): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 211 | 0.0047 | 1015 | c.342 others(1036): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114199743 | G | GTGCTTAC others(1008): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 394 | 0.0025 | 1015 | c.172 others(1030): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878226 | T | TATATATA others(1008): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 164 | 0.0061 | 1015 | c.192 others(1034): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132149309 | G | GCTCCTAC others(1008): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | 1015 | c.-50 others(1026): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4991 | chr12 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGGGAGA others(1008): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 233 | 0.0043 | 1015 | c.*29 others(1026): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89635115 | T | TCCTTTCC others(1008): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 245 | 0.0041 | 1015 | c.105 others(1030): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1008): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02080.hp2 HG02280.hp1 others(4): Show |
a0001a0010 | a0001c0001a0001c0009a0010c0023 | a0001c0001t0001a0001c0001t0003a0001c0009t0003others(1): Show | a0001c0001t0001g0247 a0001c0001t0003g0275 a0001c0001t0003g0276 others(4): Show |
7 | 143 | 0.0490 | 1015 | c.-14 others(1034): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1008): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 34 | 0.0294 | 1015 | c.-8- others(1030): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FUT9_chr6_96010974_96220612 | 96193218 | T | TAAAGAGC others(1008): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 34 | 0.0294 | 1015 | c.-8- others(1030): Show |
FUT9 | ENSG00000172461.11 | transcript | ENST00000302103.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1008): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 132 | 0.0076 | 1015 | c.94- others(1028): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294662 | A | ACTTATCC others(1008): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02886.hp1 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0138 a0001c0001t0001g0139 others(2): Show |
6 | 379 | 0.0158 | 1015 | c.105 others(1032): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294662 | A | ACTTATCC others(1008): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02976.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0154 |
3 | 376 | 0.0080 | 1015 | c.105 others(1032): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294663 | T | TCCACTTA others(1008): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 353 | 0.0028 | 1015 | c.105 others(1032): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1008): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 283 | 0.0035 | 1015 | c.105 others(1032): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1008): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00738.hp1 others(10): Show |
a0001a0003a0005 | a0001c0001a0001c0014a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0014t0001others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0090 a0001c0001t0001g0230 others(9): Show |
13 | 295 | 0.0441 | 1015 | c.105 others(1032): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1008): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 283 | 0.0035 | 1015 | c.105 others(1032): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1008): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02109.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0107 others(2): Show |
5 | 287 | 0.0174 | 1015 | c.105 others(1032): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1008): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 283 | 0.0035 | 1015 | c.105 others(1032): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(1008): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0153 |
3 | 285 | 0.0105 | 1015 | c.105 others(1032): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1360946 | C | CCTCTCTG others(1008): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 67 | 0.0149 | 1015 | c.759 others(1032): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997233 | G | GGGGGCGG others(1008): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 364 | 0.0027 | 1015 | c.-22 others(1026): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 437 | chr6 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471627 | T | TATATTTA others(1008): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 28 | 0.0357 | 1015 | c.125 others(1032): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
MAK_chr6_10757723_10843539 | 10787134 | A | ATTCACCA others(1008): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 255 | 0.0039 | 1015 | c.131 others(1034): Show |
MAK | ENSG00000111837.12 | transcript | ENST00000354489.7 | protein_coding | 10/14 | chr6 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432638 | A | AAAGGGAG others(1008): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 229 | 0.0044 | 1015 | c.225 others(1032): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(1008): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 64 | 0.0156 | 1015 | c.225 others(1032): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1008): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 | 1 | 210 | 0.0048 | 1015 | c.-5+ others(1030): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1008): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19078.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0020 | a0002c0002t0002g0113 a0002c0002t0020g0114 |
2 | 211 | 0.0095 | 1015 | c.-5+ others(1030): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1008): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01981.hp2 HG02148.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0018 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0109 a0002c0002t0001g0106 a0002c0002t0001g0112 others(6): Show |
10 | 219 | 0.0457 | 1015 | c.-5+ others(1030): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535833 | A | AGGGGGGA others(1008): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 a0001c0001t0001g0312 |
2 | 286 | 0.0070 | 1015 | c.140 others(1032): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1008): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0040 | 1 | 24 | 0.0417 | 1015 | c.371 others(1032): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1008): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp2 HG03516.hp1 |
a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0138 a0012c0012t0001g0139 a0012c0012t0001g0142 |
3 | 26 | 0.1154 | 1015 | c.371 others(1032): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1008): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 82 | 0.0122 | 1015 | c.147 others(1032): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 363668 | A | ACAGTGCA others(1008): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0022 | 1 | 21 | 0.0476 | 1015 | c.325 others(1032): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 363668 | A | ACAGTGCA others(1008): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 1 | 21 | 0.0476 | 1015 | c.325 others(1032): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCCCGAC others(1008): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0191 |
2 | 162 | 0.0123 | 1015 | c.113 others(1032): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCGACAC others(1008): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0017 a0001c0001t0013g0049 |
2 | 162 | 0.0123 | 1015 | c.113 others(1032): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCGACAC others(1008): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00735.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0128 a0001c0001t0001g0170 a0001c0001t0001g0197 others(8): Show |
11 | 171 | 0.0643 | 1015 | c.113 others(1032): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCGACAC others(1008): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 161 | 0.0062 | 1015 | c.113 others(1032): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TOLLIP_chr11_1269371_1314632 | 1287808 | C | CGCCGCAC others(1008): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0273 | 1 | 286 | 0.0035 | 1015 | c.519 others(1030): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169105 | C | CACGACTC others(1008): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0019 | a0019c0018 | a0019c0018t0002 | a0019c0018t0002g0024 | 1 | 79 | 0.0127 | 1015 | c.*92 others(1024): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 838 | chrX | TogoVar | |||||||
VEGFB_chr11_64229584_64244264 | 64237126 | G | GAGGGAGA others(1008): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 221 | 0.0045 | 1015 | c.375 others(1028): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1009): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03130.hp2 |
a0001a0007 | a0001c0062a0007c0047 | a0001c0062t0004a0007c0047t0007 | a0001c0062t0004g0226 a0007c0047t0007g0090 |
2 | 154 | 0.0130 | 1016 | c.130 others(1035): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1009): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0139 | 1 | 153 | 0.0065 | 1016 | c.130 others(1035): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1009): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 153 | 0.0065 | 1016 | c.130 others(1035): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar |