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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TOP1MT_chr8_143304324_143339880 | 143321834 | A | ACACGCCA others(733): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0212 | 1 | 230 | 0.0043 | 740 | c.961 others(755): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
TRIM28_chr19_58539064_58555715 | 58539222 | A | ACCTGCTT others(733): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 155 | 0.0065 | 740 | c.-55 others(751): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4841 | chr19 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028762 | T | TACCCTCG others(733): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0118 | 1 | 120 | 0.0083 | 740 | c.225 others(759): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870185 | C | CCACACAC others(733): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 227 | 0.0044 | 740 | c.*35 others(759): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8466813 | G | GGGGAGGG others(733): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 210 | 0.0048 | 740 | c.*43 others(749): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 304 | chrX | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(733): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 177 | 0.0056 | 740 | c.53+ others(755): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292704 | G | GCAAGTTA others(733): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 a0001c0001t0002g0273 |
2 | 310 | 0.0065 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292712 | G | GACTCTAG others(733): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 256 | 0.0039 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292756 | G | GGGACTCA others(733): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 396 | 0.0025 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292844 | T | TCAGCCAC others(733): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 289 | 0.0035 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292918 | A | ACAGCCAC others(733): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02896.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 a0001c0001t0003g0204 a0001c0001t0003g0205 |
3 | 253 | 0.0119 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292926 | A | ACAAGTTA others(733): Show |
intron_variant | MODIFIER | NA18999.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0115 |
2 | 246 | 0.0081 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292926 | A | ACAAGTTA others(733): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 245 | 0.0041 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293082 | A | AACTCTAG others(733): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 | 1 | 248 | 0.0040 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293148 | A | ACAAGTTA others(733): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 238 | 0.0042 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293149 | C | CAAGTTAG others(733): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 401 | 0.0025 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293786 | A | ATGCCCGG others(733): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157 | 1 | 110 | 0.0091 | 740 | c.339 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293954 | T | TCAGCCAC others(733): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0279 | 1 | 277 | 0.0036 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294155 | T | TGTGCCCG others(733): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 29 | 0.0345 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294250 | T | TCAGCCAC others(733): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 240 | 0.0042 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294340 | A | AACTCTAG others(733): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 286 | 0.0035 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294398 | A | ACAGCCAC others(733): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 287 | 0.0035 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294472 | A | ACAGCCAC others(733): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 a0001c0001t0003g0147 |
2 | 309 | 0.0065 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294488 | G | GACTCTAG others(733): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0268 | 1 | 276 | 0.0036 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294526 | G | GTGCCCGG others(733): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 354 | 0.0028 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294546 | T | TCAGCCAC others(733): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0332 | 1 | 300 | 0.0033 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(733): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 274 | 0.0036 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(733): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 274 | 0.0036 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(733): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 198 | 0.0051 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(733): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18960.hp1 NA19066.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0098 |
4 | 201 | 0.0199 | 740 | c.340 others(757): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(733): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0059 |
3 | 102 | 0.0294 | 740 | c.-10 others(757): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4018987 | G | GTTTTTTT others(733): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02970.hp1 HG02970.hp2 others(3): Show |
a0004 | a0004c0005a0004c0058 | a0004c0005t0006a0004c0005t0007a0004c0005t0011others(1): Show | a0004c0005t0006g0006 a0004c0005t0007g0016 a0004c0005t0007g0018 others(3): Show |
6 | 271 | 0.0221 | 740 | c.750 others(757): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 46/54 | chr17 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(734): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG02015.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0001t0036a0001c0001t0042others(9): Show | a0001c0001t0023g0192 a0001c0001t0036g0133 a0001c0001t0042g0183 others(12): Show |
15 | 31 | 0.4839 | 741 | c.-47 others(760): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240872327 | G | GAGGAGGG others(734): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02717.hp1 HG03139.hp2 others(1): Show |
a0003a0011 | a0003c0004a0011c0016 | a0003c0004t0006a0011c0016t0009 | a0003c0004t0006g0034 a0011c0016t0009g0128 |
4 | 247 | 0.0162 | 741 | c.525 others(756): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(734): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 5 | 0.2000 | 741 | c.927 others(758): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(734): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02523.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0010 | a0001c0003t0003g0081 a0001c0003t0003g0101 a0001c0003t0003g0105 others(1): Show |
4 | 8 | 0.5000 | 741 | c.927 others(758): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(734): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0016 | a0001c0002t0001g0003 a0001c0002t0016g0005 |
2 | 6 | 0.3333 | 741 | c.927 others(758): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(734): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 5 | 0.2000 | 741 | c.927 others(758): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(734): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 5 | 0.2000 | 741 | c.927 others(758): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(734): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 5 | 0.2000 | 741 | c.927 others(758): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(734): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 146 | 0.0068 | 741 | c.-18 others(752): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(734): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 |
a0059a0070 | a0059c0102a0070c0113 | a0059c0102t0001a0070c0113t0001 | a0059c0102t0001g0269 a0070c0113t0001g0029 |
2 | 78 | 0.0256 | 741 | c.963 others(758): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939818 | A | AAAAGAAA others(734): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0011 | 1 | 169 | 0.0059 | 741 | c.403 others(756): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(734): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 11 | 0.0909 | 741 | c.-26 others(750): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1508454 | T | TGCAAACC others(734): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0039 | 1 | 40 | 0.0250 | 741 | c.172 others(758): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(734): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 3 | 0.3333 | 741 | c.105 others(760): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62730862 | G | GCAGACAG others(734): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 3 | 0.3333 | 741 | c.105 others(760): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399854 | A | ACTCTTAG others(734): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0223 | 1 | 253 | 0.0040 | 741 | c.269 others(760): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27998945 | T | TTATATGC others(734): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 223 | 0.0045 | 741 | c.*51 others(752): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4328 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998945 | T | TTATATGC others(734): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 HG02523.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0087 a0004c0005t0001g0206 |
2 | 224 | 0.0089 | 741 | c.*51 others(752): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4328 | chr13 | TogoVar |