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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CREBRF_chr5_173051352_173144284 | 173130907 | A | ATGTTGGC others(1019): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137a0001c0001t0001g0151 | 2 | 292 | 0.0069 | 1026 | c.180 others(1045): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647358 | A | ACCCCTCC others(1019): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 276 | 0.0036 | 1026 | c.*52 others(1037): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2014 | chr15 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1297966 | C | CTCTCCTA others(1019): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01175.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0036a0001c0001t0003g0090a0001c0001t0004g0072others(1): Show | 4 | 159 | 0.0252 | 1026 | c.811 others(1043): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1019): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 230 | 0.0044 | 1026 | c.724 others(1045): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 455905 | G | GCAAATGA others(1019): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0053 | 1 | 88 | 0.0114 | 1026 | c.269 others(1045): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1337420 | A | ATGATGGT others(1019): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | 1026 | c.106 others(1045): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89619428 | C | CCCCCCCT others(1019): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 250 | 0.0040 | 1026 | c.-10 others(1045): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716361 | G | GTGTTGGT others(1019): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0148 | 1 | 170 | 0.0059 | 1026 | c.86- others(1039): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(1019): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0138 | 1 | 208 | 0.0048 | 1026 | c.282 others(1045): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(1019): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0006 | a0006c0010 | a0006c0010t0004 | a0006c0010t0004g0150a0006c0010t0004g0157 | 2 | 208 | 0.0096 | 1026 | c.282 others(1045): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(1019): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0009 | a0004c0009t0004 | a0004c0009t0004g0153 | 1 | 208 | 0.0048 | 1026 | c.282 others(1045): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1019): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02145.hp2 |
a0003 | a0003c0019a0003c0026 | a0003c0019t0002a0003c0026t0002 | a0003c0019t0002g0243a0003c0026t0002g0241a0003c0026t0002g0242 | 3 | 292 | 0.0103 | 1026 | c.228 others(1043): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1019): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0240 | 1 | 292 | 0.0034 | 1026 | c.228 others(1043): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1019): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02145.hp2 |
a0006a0021 | a0006c0010a0021c0031 | a0006c0010t0009a0021c0031t0020 | a0006c0010t0009g0077a0021c0031t0020g0010a0021c0031t0020g0069 | 3 | 369 | 0.0081 | 1026 | c.-49 others(1037): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1019): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0011 | a0011c0036 | a0011c0036t0006 | a0011c0036t0006g0067 | 1 | 369 | 0.0027 | 1026 | c.-49 others(1037): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG01070.hp2 others(29): Show |
a0001a0005a0012 | a0001c0002a0001c0024a0001c0027others(3): Show | a0001c0002t0002a0001c0002t0012a0001c0002t0014others(5): Show | a0001c0002t0002g0001a0001c0002t0002g0206a0001c0002t0002g0285others(25): Show | 32 | 408 | 0.0784 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0011 | a0011c0028 | a0011c0028t0002 | a0011c0028t0002g0256 | 1 | 408 | 0.0025 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0239 | 1 | 408 | 0.0025 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0345 | 1 | 408 | 0.0025 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0093 | 1 | 408 | 0.0025 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0077a0001c0001t0001g0094others(2): Show | 7 | 408 | 0.0172 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1019): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 408 | 0.0025 | 1026 | c.-14 others(1045): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGGAA others(1019): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 308 | 0.0033 | 1026 | c.157 others(1043): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1019): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0088 | 1 | 155 | 0.0065 | 1026 | c.487 others(1041): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1019): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0086 | 1 | 155 | 0.0065 | 1026 | c.487 others(1041): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399262 | T | TCACCATC others(1019): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 314 | 0.0032 | 1026 | c.-25 others(1043): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399262 | T | TCACCATC others(1019): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 314 | 0.0032 | 1026 | c.-25 others(1043): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCCT others(1019): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 376 | 0.0027 | 1026 | c.-79 others(1035): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | ||||||
LOC102725191_chr7_12499441_12546270 | 12528282 | A | ACTTTCCT others(1019): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01516.hp2 HG02976.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0005a0003c0003t0002g0176a0003c0003t0002g0308others(3): Show | 9 | 422 | 0.0213 | 1026 | c.545 others(1041): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3583540 | A | ACAGCCAC others(1019): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 292 | 0.0034 | 1026 | c.377 others(1043): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583558 | G | GCAGCCAC others(1019): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 292 | 0.0034 | 1026 | c.377 others(1043): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877016 | T | TAGGGAGG others(1019): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 274 | 0.0037 | 1026 | c.224 others(1045): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82002 | G | GGGAAGGC others(1019): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 442 | 0.0023 | 1026 | c.301 others(1043): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MYT1L_chr2_1784113_2336275 | 1861843 | G | GCAGCCTG others(1019): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0083 | 1 | 104 | 0.0096 | 1026 | c.271 others(1047): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124138667 | T | TTAATATT others(1019): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017 | 1 | 66 | 0.0152 | 1026 | c.55- others(1045): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NPRL3_chr16_80386_143673 | 82002 | G | GGGAAGGC others(1019): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 350 | 0.0029 | 1026 | c.*47 others(1037): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3383 | chr16 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133082580 | A | ATCCTCTC others(1019): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0040 | 1 | 68 | 0.0147 | 1026 | c.62- others(1045): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133082580 | A | ATCCTCTC others(1019): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0008 | 1 | 68 | 0.0147 | 1026 | c.62- others(1045): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CCGTCACC others(1019): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 66 | 0.0152 | 1026 | c.234 others(1041): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CTGTCACC others(1019): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0018 | 1 | 66 | 0.0152 | 1026 | c.234 others(1041): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | chr20 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CTGTCACC others(1019): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0015 | a0001c0001t0005g0003a0001c0001t0014g0033a0001c0001t0015g0032 | 4 | 66 | 0.0606 | 1026 | c.234 others(1041): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | chr20 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1019): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 456 | 0.0022 | 1026 | c.*31 others(1037): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1019): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 NA18973.hp1 NA18993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0042 | 5 | 456 | 0.0110 | 1026 | c.*31 others(1037): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1019): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 456 | 0.0044 | 1026 | c.*31 others(1037): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
OTOG_chr11_17542259_17651044 | 17552531 | C | CCCCACCT others(1019): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0120 | a0120c0135 | a0120c0135t0001 | a0120c0135t0001g0262 | 1 | 268 | 0.0037 | 1026 | c.292 others(1041): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGAGGG others(1019): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0072 | a0003c0072t0001 | a0003c0072t0001g0266 | 1 | 308 | 0.0033 | 1026 | c.371 others(1043): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492490 | C | CCGGGGAG others(1019): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0132 | 1 | 295 | 0.0034 | 1026 | c.126 others(1045): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492490 | C | CCGGGGAG others(1019): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0116 | 1 | 295 | 0.0034 | 1026 | c.126 others(1045): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(1019): Show |
downstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 1026 | c.*44 others(1037): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744487 | C | CCCTGGCT others(1019): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0131 | 1 | 196 | 0.0051 | 1026 | c.655 others(1043): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |