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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(863): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0122 | 1 | 27 | 0.0370 | 870 | c.94+ others(885): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758764 | T | TCACCTGC others(863): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01981.hp2 |
a0010 | a0010c0017 | a0010c0017t0001a0010c0017t0002 | a0010c0017t0001g0273 a0010c0017t0002g0297 |
2 | 171 | 0.0117 | 870 | c.654 others(889): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1077271 | C | CGGGAGGC others(863): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 160 | 0.0063 | 870 | c.*56 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4551 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078446 | G | GGCTGAGG others(863): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 | 1 | 246 | 0.0041 | 870 | c.*44 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3376 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078446 | G | GGCTGAGG others(863): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 246 | 0.0041 | 870 | c.*44 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3376 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078446 | G | GGCTGAGG others(863): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0309 | 1 | 246 | 0.0041 | 870 | c.*44 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3376 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078543 | G | GCTATGGG others(863): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 | 1 | 241 | 0.0041 | 870 | c.*43 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3279 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078543 | G | GCTATGGG others(863): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG02132.hp2 HG04184.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 others(3): Show |
6 | 246 | 0.0244 | 870 | c.*43 others(881): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3279 | chr1 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585467 | T | TGAGGGAA others(863): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0342 | 1 | 325 | 0.0031 | 870 | c.-22 others(887): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585520 | A | AATGTTGA others(863): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0281 a0001c0001t0011g0282 |
2 | 86 | 0.0233 | 870 | c.-22 others(887): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(863): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0317 | 1 | 261 | 0.0038 | 870 | c.-22 others(887): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(863): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0236 | 1 | 261 | 0.0038 | 870 | c.-22 others(887): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(863): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp2 HG03130.hp2 others(1): Show |
a0001a0002a0003 | a0001c0023a0002c0002a0003c0006 | a0001c0023t0006a0002c0002t0003a0003c0006t0007others(1): Show | a0001c0023t0006g0143 a0002c0002t0003g0150 a0003c0006t0007g0151 others(1): Show |
4 | 255 | 0.0157 | 870 | c.82+ others(887): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(863): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 | 1 | 4 | 0.2500 | 870 | c.342 others(889): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(863): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18906.hp1 |
a0019a0025 | a0019c0038a0025c0028 | a0019c0038t0001a0025c0028t0001 | a0019c0038t0001g0113 a0025c0028t0001g0099 |
2 | 5 | 0.4000 | 870 | c.342 others(889): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(863): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0134 | 1 | 4 | 0.2500 | 870 | c.342 others(889): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098092 | T | TAAATATA others(863): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0046 | 1 | 258 | 0.0039 | 870 | c.181 others(889): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(863): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0002t0005a0001c0006t0047others(3): Show | a0001c0001t0002g0023 a0001c0002t0005g0025 a0001c0006t0047g0019 others(3): Show |
6 | 8 | 0.7500 | 870 | c.110 others(887): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(863): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(26): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0041 a0001c0001t0002g0111 a0001c0001t0002g0122 others(26): Show |
29 | 31 | 0.9355 | 870 | c.110 others(887): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232218 | G | GTCACCAC others(863): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 312 | 0.0032 | 870 | c.513 others(885): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
CYLC1_chrX_83856146_83891698 | 83878224 | A | AATATATA others(863): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 a0002c0002t0001g0182 |
2 | 190 | 0.0105 | 870 | c.192 others(889): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(863): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0186 | 1 | 97 | 0.0103 | 870 | c.923 others(889): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1450265 | G | GCTGTGAC others(863): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0016 | 1 | 38 | 0.0263 | 870 | c.107 others(889): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915400 | C | CATTAAGG others(863): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 267 | 0.0037 | 870 | c.179 others(889): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927949 | T | TGGAGGTG others(863): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0092 | 1 | 276 | 0.0036 | 870 | c.190 others(889): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928191 | G | GTGGTGAT others(863): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0242 | 1 | 241 | 0.0041 | 870 | c.190 others(889): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137350578 | C | CTAGATAG others(863): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0012 | 1 | 3 | 0.3333 | 870 | c.149 others(887): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 14/21 | chr9 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998945 | T | TTATATGC others(863): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0102 | 1 | 223 | 0.0045 | 870 | c.*51 others(881): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4328 | chr13 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(863): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0275 | 1 | 337 | 0.0030 | 870 | c.666 others(887): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602415 | T | TCCTCCTC others(863): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0370 | 1 | 393 | 0.0025 | 870 | c.633 others(887): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1361136 | T | TCTCTGTC others(863): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0070 | 1 | 113 | 0.0088 | 870 | c.759 others(887): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(863): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 188 | 0.0053 | 870 | c.-30 others(881): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(863): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA18941.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 190 | 0.0158 | 870 | c.-30 others(881): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(863): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0065 | 1 | 77 | 0.0130 | 870 | c.-27 others(881): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(863): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 77 | 0.0130 | 870 | c.-27 others(881): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(863): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 31 | 0.0323 | 870 | c.956 others(887): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(863): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 31 | 0.0323 | 870 | c.956 others(887): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055104 | T | TGCATAGA others(863): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009 | a0001c0001t0001g0030 a0001c0001t0006g0221 a0001c0001t0009g0043 |
3 | 18 | 0.1667 | 870 | c.193 others(889): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(863): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 NA19091.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 2 | 171 | 0.0117 | 870 | c.-30 others(881): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(863): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01255.hp2 others(11): Show |
a0001a0002a0007 | a0001c0001a0001c0015a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0114 others(11): Show |
14 | 19 | 0.7368 | 870 | c.100 others(889): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GGGAAGGG others(863): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0258 | 1 | 213 | 0.0047 | 870 | c.250 others(885): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(863): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0041 | 1 | 8 | 0.1250 | 870 | c.250 others(885): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCTTACC others(863): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 167 | 0.0060 | 870 | c.147 others(889): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(863): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 NA19057.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0068 a0003c0003t0002g0073 a0003c0003t0002g0080 others(2): Show |
5 | 225 | 0.0222 | 870 | c.176 others(889): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(863): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0340 | 1 | 221 | 0.0045 | 870 | c.176 others(889): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(863): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0082 | 1 | 221 | 0.0045 | 870 | c.176 others(889): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398256 | A | ATCACCTC others(863): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0015 | a0015c0026 | a0015c0026t0004 | a0015c0026t0004g0092 | 1 | 205 | 0.0049 | 870 | c.106 others(887): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(863): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 67 | 0.0149 | 870 | c.306 others(889): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(863): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0168 | 1 | 132 | 0.0076 | 870 | c.126 others(889): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(863): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG01981.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0006 a0001c0001t0002g0061 a0001c0001t0002g0166 others(7): Show |
10 | 28 | 0.3571 | 870 | c.24+ others(887): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar |