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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(2936): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0113 | 1 | 68 | 0.0147 | 2943 | c.218 others(2960): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87407647 | T | TTTTACTT others(2937): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0245 | 1 | 367 | 0.0027 | 2944 | c.-44 others(2953): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 324 | chr6 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2937): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 146 | 0.0068 | 2944 | c.127 others(2963): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2937): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 7 | 0.1429 | 2944 | c.*16 others(2955): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2937): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 7 | 0.1429 | 2944 | c.*22 others(2955): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716103 | G | GTGGTGTC others(2937): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0151 | 1 | 84 | 0.0119 | 2944 | c.86- others(2957): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377946 | G | GCTGTGTT others(2937): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0025 | 1 | 261 | 0.0038 | 2944 | c.215 others(2961): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2937): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02922.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0015 a0001c0005t0001g0088 a0001c0005t0001g0092 others(1): Show |
4 | 11 | 0.3636 | 2944 | c.400 others(2963): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659557 | G | GCATCCTG others(2937): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0075 | 1 | 196 | 0.0051 | 2944 | c.*50 others(2955): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4642 | chr8 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2937): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 7 | 0.1429 | 2944 | c.*27 others(2955): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2937): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0129 | 1 | 20 | 0.0500 | 2944 | c.206 others(2963): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
ZBED4_chr22_49848844_49895080 | 49850342 | C | CCCCCCCC others(2937): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 314 | 0.0032 | 2944 | c.-39 others(2955): Show |
ZBED4 | ENSG00000100426.7 | transcript | ENST00000216268.6 | protein_coding | 3501 | chr22 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2937): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 135 | 0.0074 | 2944 | c.10- others(2957): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2938): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 a0001c0001t0004g0011 |
2 | 147 | 0.0136 | 2945 | c.127 others(2964): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(2938): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0252 | 1 | 4 | 0.2500 | 2945 | c.115 others(2964): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2938): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0115 | 1 | 8 | 0.1250 | 2945 | c.400 others(2964): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2938): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0109 | 1 | 8 | 0.1250 | 2945 | c.400 others(2964): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70276270 | C | CTTTTTTT others(2938): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 269 | 0.0037 | 2945 | c.264 others(2962): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCTCCT others(2938): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 228 | 0.0044 | 2945 | c.306 others(2964): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2938): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 7 | 0.1429 | 2945 | c.*27 others(2956): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2938): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 7 | 0.1429 | 2945 | c.*27 others(2956): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2938): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0069 a0001c0001t0010g0079 |
2 | 8 | 0.2500 | 2945 | c.*27 others(2956): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2938): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 7 | 0.1429 | 2945 | c.*27 others(2956): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2938): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 7 | 0.1429 | 2945 | c.*27 others(2956): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771939 | G | GGAGAAAA others(2938): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0027 | a0001c0027t0011 | a0001c0027t0011g0089 | 1 | 255 | 0.0039 | 2945 | c.389 others(2964): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(2938): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0037 | 1 | 4 | 0.2500 | 2945 | c.296 others(2962): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15945175 | C | CAATTTCA others(2939): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 264 | 0.0038 | 2946 | c.375 others(2967): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15946197 | A | ATGGCATT others(2939): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03195.hp2 |
a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0257 a0003c0003t0007g0262 |
2 | 260 | 0.0077 | 2946 | c.375 others(2967): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15946197 | A | ATGGCATT others(2939): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02965.hp2 HG03139.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0007a0003c0003t0028 | a0003c0003t0007g0261 a0003c0003t0007g0263 a0003c0003t0007g0264 others(1): Show |
4 | 262 | 0.0153 | 2946 | c.375 others(2967): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(2939): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0237 | 1 | 4 | 0.2500 | 2946 | c.115 others(2965): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325121 | C | CCTTCCCT others(2939): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 53 | 0.0189 | 2946 | c.125 others(2963): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
NPM2_chr8_22019134_22041897 | 22021592 | C | CAAAAGAA others(2939): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 322 | 0.0031 | 2946 | c.-31 others(2957): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2541 | chr8 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2939): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 7 | 0.1429 | 2946 | c.*27 others(2957): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2939): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 7 | 0.1429 | 2946 | c.*27 others(2957): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2939): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG01168.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0038 others(6): Show |
9 | 15 | 0.6000 | 2946 | c.*27 others(2957): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2939): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 7 | 0.1429 | 2946 | c.*27 others(2957): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2939): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 3 | 0.3333 | 2946 | c.-28 others(2957): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747263 | T | TGGGAGGC others(2939): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0113 | 1 | 295 | 0.0034 | 2946 | c.189 others(2963): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693498 | T | TCCACCTC others(2939): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 31 | 0.0323 | 2946 | c.-32 others(2957): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3153 | chr20 | TogoVar | |||||||
USP36_chr17_78790652_78845814 | 78791138 | T | TTTAGCTG others(2939): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 384 | 0.0026 | 2946 | c.*67 others(2957): Show |
USP36 | ENSG00000055483.20 | transcript | ENST00000449938.7 | protein_coding | 4513 | chr17 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2940): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0034 | 1 | 166 | 0.0060 | 2947 | c.173 others(2968): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411045 | C | CCTGCTGG others(2940): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0153 | 1 | 194 | 0.0052 | 2947 | c.-20 others(2958): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1899 | chr19 | TogoVar | |||||||
CCDC171_chr9_15548043_15979037 | 15947969 | T | TCCCCCCC others(2940): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0265 | 1 | 263 | 0.0038 | 2947 | c.375 others(2968): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2940): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 2 | 0.5000 | 2947 | c.44- others(2960): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725423 | A | AGGTGGAT others(2940): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0177 | 1 | 224 | 0.0045 | 2947 | c.340 others(2964): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(2940): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0148 | 1 | 4 | 0.2500 | 2947 | c.115 others(2966): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(2940): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0156 | 1 | 4 | 0.2500 | 2947 | c.115 others(2966): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811273 | C | CCTTCCTT others(2940): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 166 | 0.0060 | 2947 | c.773 others(2962): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(2940): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 others(34): Show |
37 | 38 | 0.9737 | 2947 | c.-12 others(2968): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(2940): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01123.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0001 | a0001c0001t0001g0142 a0001c0001t0013g0163 a0001c0002t0001g0132 others(4): Show |
7 | 8 | 0.8750 | 2947 | c.-12 others(2968): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |