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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TPO_chr2_1408463_1548673 | 1480807 | A | ATCCGTCC others(1075): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 130 | 0.0077 | 1082 | c.133 others(1101): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TTLL8_chr22_50013575_50063298 | 50028864 | C | CCCCATCA others(1075): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 224 | 0.0045 | 1082 | c.225 others(1101): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133291362 | C | CCCCGTGT others(1075): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0094 | 1 | 284 | 0.0035 | 1082 | c.121 others(1101): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1076): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 326 | 0.0031 | 1083 | c.327 others(1100): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(1076): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0130 | 1 | 242 | 0.0041 | 1083 | c.266 others(1100): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333412 | C | CACACCGG others(1076): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 370 | 0.0027 | 1083 | c.891 others(1098): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585729 | T | TACAGCCC others(1076): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0167 | 1 | 236 | 0.0042 | 1083 | c.294 others(1100): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1076): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0017 | 1 | 230 | 0.0044 | 1083 | c.724 others(1102): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516624 | A | ACAGGGGG others(1076): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 88 | 0.0114 | 1083 | c.86- others(1100): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1076): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0003 | a0003c0145 | a0003c0145t0002 | a0003c0145t0002g0066 | 1 | 252 | 0.0040 | 1083 | c.118 others(1102): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1076): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0035 | a0035c0104 | a0035c0104t0001 | a0035c0104t0001g0183 | 1 | 252 | 0.0040 | 1083 | c.118 others(1102): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1076): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0110 | a0110c0185 | a0110c0185t0001 | a0110c0185t0001g0157 | 1 | 252 | 0.0040 | 1083 | c.118 others(1102): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927921 | G | GTGGTGGT others(1076): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03471.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0272a0001c0003t0001g0273 | 2 | 288 | 0.0069 | 1083 | c.190 others(1102): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99927921 | G | GTGGTGGT others(1076): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0220a0001c0003t0001g0221 | 2 | 288 | 0.0069 | 1083 | c.190 others(1102): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99927921 | G | GTGGTGGT others(1076): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0232 | 1 | 288 | 0.0035 | 1083 | c.190 others(1102): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99928014 | G | GTGGTGGT others(1076): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0051 | 1 | 288 | 0.0035 | 1083 | c.190 others(1102): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FBXO47_chr17_38931432_38972403 | 38946629 | T | TAAGTACA others(1076): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 344 | 0.0029 | 1083 | c.617 others(1100): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435509 | C | CGGAGGGA others(1076): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0076 | 1 | 96 | 0.0104 | 1083 | c.-16 others(1104): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252914 | C | CCACCACC others(1076): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0003 | a0002c0003t0014 | a0002c0003t0014g0263 | 1 | 366 | 0.0027 | 1083 | c.666 others(1100): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252980 | T | TCACCACC others(1076): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0215 | 1 | 366 | 0.0027 | 1083 | c.666 others(1100): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GRIN3A_chr9_101564352_101743647 | 101617062 | T | TGGTGGCG others(1076): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG01884.hp1 others(43): Show |
a0002a0005 | a0002c0002a0002c0022a0005c0008others(3): Show | a0002c0002t0005a0002c0002t0008a0002c0002t0011others(11): Show | a0002c0002t0005g0287a0002c0002t0005g0290a0002c0002t0005g0294others(43): Show | 46 | 324 | 0.1420 | 1083 | c.261 others(1102): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
GRIN3A_chr9_101564352_101743647 | 101617062 | T | TGGTGGCG others(1076): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0035 | a0005c0035t0040 | a0005c0035t0040g0235 | 1 | 324 | 0.0031 | 1083 | c.261 others(1102): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
GRIN3A_chr9_101564352_101743647 | 101617068 | C | CGGGCGCC others(1076): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0112 | 1 | 324 | 0.0031 | 1083 | c.261 others(1102): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(1076): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0022 | 1 | 282 | 0.0036 | 1083 | c.258 others(1100): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1076): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01515.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0002 | a0001c0001t0001g0055a0001c0001t0001g0114a0001c0001t0010g0178others(1): Show | 4 | 236 | 0.0170 | 1083 | c.193 others(1102): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1076): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 236 | 0.0042 | 1083 | c.193 others(1102): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1076): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0205 | 1 | 236 | 0.0042 | 1083 | c.193 others(1102): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1076): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 236 | 0.0042 | 1083 | c.193 others(1102): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1076): Show |
intron_variant | MODIFIER | HG03540.hp2 HG04204.hp2 NA18522.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0001a0001c0001t0012a0001c0002t0008others(1): Show | a0001c0001t0001g0164a0001c0001t0012g0008a0001c0002t0008g0038others(1): Show | 4 | 236 | 0.0170 | 1083 | c.193 others(1102): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055118 | A | AGTTGGAT others(1076): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0053 | 1 | 236 | 0.0042 | 1083 | c.193 others(1102): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1076): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0131 | 1 | 330 | 0.0030 | 1083 | c.-5+ others(1098): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1076): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19000.hp2 NA19003.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0130a0002c0002t0002g0128a0002c0002t0003g0142others(1): Show | 4 | 330 | 0.0121 | 1083 | c.-5+ others(1098): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1076): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0124 | 1 | 330 | 0.0030 | 1083 | c.-5+ others(1098): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1076): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0030 | 1 | 326 | 0.0031 | 1083 | c.162 others(1102): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1076): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0184 | 1 | 326 | 0.0031 | 1083 | c.162 others(1102): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1076): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0088 | 1 | 326 | 0.0031 | 1083 | c.162 others(1102): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1076): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0242 | 1 | 308 | 0.0033 | 1083 | c.371 others(1100): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1076): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 322 | 0.0031 | 1083 | c.*48 others(1094): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3162861 | C | CTCTAGAG others(1076): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0127 | 1 | 210 | 0.0048 | 1083 | c.38- others(1100): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114099745 | G | GCCCCCCA others(1076): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 67 | 0.0149 | 1083 | c.56- others(1100): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(1076): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0032 | a0001c0001t0016g0112a0001c0002t0032g0102 | 2 | 160 | 0.0125 | 1083 | c.389 others(1104): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(1076): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0143 | 1 | 160 | 0.0063 | 1083 | c.389 others(1104): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
THEG_chr19_356747_381026 | 377475 | C | CCCCCACC others(1076): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 | 2 | 370 | 0.0054 | 1083 | c.-15 others(1094): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1450 | chr19 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744303 | T | TAAAAACT others(1076): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0064 | 1 | 372 | 0.0027 | 1083 | c.749 others(1098): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1076): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 372 | 0.0027 | 1083 | c.749 others(1098): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1076): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 372 | 0.0027 | 1083 | c.749 others(1098): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204190 | T | TATAATAT others(1076): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043 | 1 | 174 | 0.0058 | 1083 | c.41- others(1100): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1076): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 167 | 0.0060 | 1083 | c.*53 others(1094): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1077): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 238 | 0.0042 | 1084 | c.787 others(1099): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049142 | C | CGGGGGGC others(1077): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0007 | 1 | 308 | 0.0033 | 1084 | c.*55 others(1095): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2961 | chr8 | TogoVar |