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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2912): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0187 | 1 | 135 | 0.0074 | 2919 | c.10- others(2932): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2912): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 135 | 0.0074 | 2919 | c.10- others(2932): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2912): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 135 | 0.0074 | 2919 | c.10- others(2932): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2913): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0186 | 1 | 288 | 0.0035 | 2920 | c.96+ others(2935): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2913): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0079 | 1 | 166 | 0.0060 | 2920 | c.173 others(2941): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(2913): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 55 | 0.0182 | 2920 | c.891 others(2935): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2913): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 146 | 0.0068 | 2920 | c.127 others(2939): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2913): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 146 | 0.0068 | 2920 | c.127 others(2939): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325121 | C | CCTTCCCT others(2913): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 53 | 0.0189 | 2920 | c.125 others(2937): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2913): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 7 | 0.1429 | 2920 | c.*27 others(2931): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2913): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 7 | 0.1429 | 2920 | c.*27 others(2931): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2913): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 38 | 0.0263 | 2920 | c.*19 others(2931): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2913): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 38 | 0.0263 | 2920 | c.*19 others(2931): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2913): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 38 | 0.0263 | 2920 | c.*19 others(2931): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2914): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0126 | 1 | 166 | 0.0060 | 2921 | c.173 others(2942): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CYB5RL_chr1_54164651_54205030 | 54185303 | T | TGAAAGAT others(2914): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 | 1 | 408 | 0.0025 | 2921 | c.436 others(2938): Show |
CYB5RL | ENSG00000215883.11 | transcript | ENST00000534324.6 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2914): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 | 1 | 7 | 0.1429 | 2921 | c.*27 others(2932): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2914): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0080 | 1 | 274 | 0.0036 | 2921 | c.130 others(2938): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740324 | A | AGCCGGAC others(2914): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 222 | 0.0045 | 2921 | c.-25 others(2932): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2546 | chr17 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2914): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00738.hp2 HG01978.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0003g0009 others(7): Show |
11 | 48 | 0.2292 | 2921 | c.*19 others(2932): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1740324 | A | AGCCGGAC others(2914): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0003 | a0003c0021 | a0003c0021t0010 | a0003c0021t0010g0074 | 1 | 210 | 0.0048 | 2921 | c.*26 others(2932): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1740 | chr17 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2915): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0061 | 1 | 166 | 0.0060 | 2922 | c.173 others(2943): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(2915): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 312 | 0.0032 | 2922 | c.*85 others(2933): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2915): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0079 |
2 | 147 | 0.0136 | 2922 | c.127 others(2941): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CYB5RL_chr1_54164651_54205030 | 54185303 | T | TGAAAGAT others(2915): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 408 | 0.0025 | 2922 | c.436 others(2939): Show |
CYB5RL | ENSG00000215883.11 | transcript | ENST00000534324.6 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706433 | G | GATAGATA others(2915): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 256 | 0.0039 | 2922 | c.228 others(2939): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
FLG_chr1_152297165_152330239 | 152304195 | C | CGATGGTT others(2915): Show |
conservative_inframe_insertion | MODERATE | HG01261.hp1 | a0059 | a0059c0148 | a0059c0148t0001 | a0059c0148t0001g0077 | 1 | 261 | 0.0038 | 2922 | c.106 others(2933): Show |
p.His others(2937): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10762/12793 | 10690/12186 | 3564/4061 | chr1 | TogoVar | |||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAGAGAG others(2915): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0094 | a0094c0057 | a0094c0057t0001 | a0094c0057t0001g0043 | 1 | 8 | 0.1250 | 2922 | c.723 others(2939): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2915): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 7 | 0.1429 | 2922 | c.*27 others(2933): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2915): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 3 | 0.3333 | 2922 | c.-28 others(2933): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2915): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 38 | 0.0263 | 2922 | c.*19 others(2933): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2915): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0068 | 1 | 38 | 0.0263 | 2922 | c.*19 others(2933): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2915): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 38 | 0.0263 | 2922 | c.*19 others(2933): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2916): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0049 | 1 | 166 | 0.0060 | 2923 | c.173 others(2944): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2916): Show |
intron_variant | MODIFIER | NA18997.hp1 NA19009.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0107 a0002c0003t0003g0108 |
2 | 255 | 0.0078 | 2923 | c.109 others(2938): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2916): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0109 | 1 | 254 | 0.0039 | 2923 | c.109 others(2938): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2916): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0110 | 1 | 254 | 0.0039 | 2923 | c.109 others(2938): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(2916): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 312 | 0.0032 | 2923 | c.*85 others(2934): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | |||||||
DCAF17_chr2_171429226_171490052 | 171463810 | A | AGAAATAA others(2916): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 358 | 0.0028 | 2923 | c.839 others(2940): Show |
DCAF17 | ENSG00000115827.14 | transcript | ENST00000375255.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2916): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 233 | 0.0043 | 2923 | c.-91 others(2944): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2916): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 7 | 0.1429 | 2923 | c.*27 others(2934): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2916): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 7 | 0.1429 | 2923 | c.*27 others(2934): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2916): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 38 | 0.0263 | 2923 | c.*19 others(2934): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
ZNF461_chr19_36631618_36671837 | 36661642 | T | TAAGATGA others(2916): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 341 | 0.0029 | 2923 | c.9+3 others(2936): Show |
ZNF461 | ENSG00000197808.14 | transcript | ENST00000588268.6 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2917): Show |
intron_variant | MODIFIER | NA19059.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0245 | 1 | 288 | 0.0035 | 2924 | c.96+ others(2939): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2917): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0168 | 1 | 288 | 0.0035 | 2924 | c.96+ others(2939): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2917): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0106 | 1 | 254 | 0.0039 | 2924 | c.109 others(2939): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045986 | C | CTCCTCCA others(2917): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00639.hp1 others(23): Show |
a0001a0002a0007 | a0001c0008a0002c0002a0002c0029others(1): Show | a0001c0008t0001a0002c0002t0002a0002c0002t0015others(2): Show | a0001c0008t0001g0001 a0002c0002t0002g0001 a0002c0002t0002g0024 others(11): Show |
26 | 378 | 0.0688 | 2924 | c.109 others(2939): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9780252 | G | GAAGAAAA others(2917): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0190 | 1 | 206 | 0.0049 | 2924 | c.-16 others(2945): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2917): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 7 | 0.1429 | 2924 | c.*27 others(2935): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar |