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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2855): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0014 | 1 | 23 | 0.0435 | 2862 | c.284 others(2881): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2856): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0052 | 1 | 9 | 0.1111 | 2863 | c.642 others(2880): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2856): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0170 a0001c0001t0003g0171 |
2 | 4 | 0.5000 | 2863 | c.-28 others(2874): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2856): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0025 |
2 | 4 | 0.5000 | 2863 | c.-28 others(2874): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2856): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0084 | 1 | 23 | 0.0435 | 2863 | c.284 others(2882): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
ARL3_chr10_102668731_102719397 | 102707412 | T | TATAGCTG others(2857): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 421 | 0.0024 | 2864 | c.4-1 others(2877): Show |
ARL3 | ENSG00000138175.9 | transcript | ENST00000260746.6 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2857): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0108 | 1 | 166 | 0.0060 | 2864 | c.173 others(2885): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2857): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0004 | a0004c0006 | a0004c0006t0009 | a0004c0006t0009g0042 | 1 | 32 | 0.0313 | 2864 | c.56- others(2877): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2857): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0008 | a0008c0009 | a0008c0009t0016 | a0008c0009t0016g0040 | 1 | 282 | 0.0035 | 2864 | c.265 others(2885): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AAGCTGAG others(2857): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0248 | 1 | 105 | 0.0095 | 2864 | c.157 others(2883): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2857): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0018 | 1 | 23 | 0.0435 | 2864 | c.284 others(2883): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
SNAP23_chr15_42490634_42538058 | 42514126 | T | TTTGTTTT others(2857): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 303 | 0.0033 | 2864 | c.148 others(2879): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNAP23_chr15_42490634_42538058 | 42514126 | T | TTTGTTTT others(2857): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 303 | 0.0033 | 2864 | c.148 others(2879): Show |
SNAP23 | ENSG00000092531.10 | transcript | ENST00000249647.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(2857): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 62 | 0.0161 | 2864 | c.*53 others(2875): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
WWTR1_chr3_149512235_149663025 | 149660775 | A | ACACATTT others(2857): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0003 | a0002c0003t0023 | a0002c0003t0023g0014 | 1 | 330 | 0.0030 | 2864 | c.-30 others(2875): Show |
WWTR1 | ENSG00000018408.15 | transcript | ENST00000360632.8 | protein_coding | 2751 | chr3 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2858): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02257.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0136 a0001c0002t0003g0123 |
2 | 167 | 0.0120 | 2865 | c.173 others(2886): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63361783 | T | TAAGAAAT others(2858): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 308 | 0.0032 | 2865 | c.333 others(2884): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132150015 | T | TCACACCA others(2858): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0015 | a0015c0024 | a0015c0024t0001 | a0015c0024t0001g0012 | 1 | 110 | 0.0091 | 2865 | c.902 others(2880): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2858): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0159 | 1 | 82 | 0.0122 | 2865 | c.147 others(2882): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2858): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0037 | 1 | 274 | 0.0036 | 2865 | c.130 others(2882): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2858): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 3 | 0.3333 | 2865 | c.-28 others(2876): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2859): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0116 | 1 | 166 | 0.0060 | 2866 | c.173 others(2887): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431903 | A | ACAGGGTG others(2859): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 342 | 0.0029 | 2866 | c.101 others(2885): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2859): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0118 |
2 | 4 | 0.5000 | 2866 | c.-28 others(2877): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2859): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 3 | 0.3333 | 2866 | c.-28 others(2877): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2860): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 146 | 0.0068 | 2867 | c.127 others(2886): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(2860): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG03017.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0024 a0001c0002t0004g0027 a0001c0002t0004g0034 |
3 | 154 | 0.0195 | 2867 | c.228 others(2888): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(2860): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 152 | 0.0066 | 2867 | c.228 others(2888): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2861): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0073 |
2 | 147 | 0.0136 | 2868 | c.127 others(2887): 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(2861): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02004.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0125 a0001c0001t0001g0151 |
3 | 148 | 0.0203 | 2868 | c.127 others(2887): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2861): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0307 | 1 | 106 | 0.0094 | 2868 | c.353 others(2885): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2862): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0053 | 1 | 166 | 0.0060 | 2869 | c.173 others(2890): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2862): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 146 | 0.0068 | 2869 | c.127 others(2888): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88713164 | A | ACCCGAGA others(2862): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0148 | 1 | 225 | 0.0044 | 2869 | c.738 others(2884): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251277 | C | CCACATCC others(2862): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 68 | 0.0147 | 2869 | c.207 others(2888): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88713164 | A | ACCCGAGA others(2862): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0025 | a0025c0037 | a0025c0037t0012 | a0025c0037t0012g0269 | 1 | 158 | 0.0063 | 2869 | c.*24 others(2880): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2173 | chr16 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(2862): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 13 | 0.0769 | 2869 | c.*13 others(2882): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2862): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 159 | 0.0063 | 2869 | c.-27 others(2886): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2862): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0083 | 1 | 274 | 0.0036 | 2869 | c.130 others(2886): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2862): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0169 | 1 | 3 | 0.3333 | 2869 | c.-28 others(2880): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2862): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0045 |
9 | 11 | 0.8182 | 2869 | c.-28 others(2880): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2862): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 |
3 | 5 | 0.6000 | 2869 | c.-28 others(2880): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2862): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 3 | 0.3333 | 2869 | c.-28 others(2880): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2862): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 a0001c0001t0004g0019 a0001c0001t0004g0050 |
8 | 10 | 0.8000 | 2869 | c.-28 others(2880): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SYNRG_chr17_37509807_37614418 | 37600849 | G | GAAGAAAA others(2862): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 348 | 0.0029 | 2869 | c.78- others(2882): Show |
SYNRG | ENSG00000275066.5 | transcript | ENST00000612223.5 | protein_coding | 1/21 | chr17 | TogoVar | |||||||
TAOK1_chr17_29385363_29556903 | 29487253 | A | AAAAAAAA others(2862): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0016 a0001c0003t0008g0017 |
2 | 317 | 0.0063 | 2869 | c.656 others(2886): Show |
TAOK1 | ENSG00000160551.12 | transcript | ENST00000261716.8 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2863): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 146 | 0.0068 | 2870 | c.127 others(2889): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2863): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0134 | 1 | 69 | 0.0145 | 2870 | c.*52 others(2881): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
FAM118A_chr22_45304934_45346955 | 45328374 | T | TTGAAGGA others(2863): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0131 | 1 | 411 | 0.0024 | 2870 | c.522 others(2885): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2863): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0069 | a0001c0002t0069g0126 | 1 | 9 | 0.1111 | 2870 | c.*39 others(2881): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar |