| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RIMBP2_chr12_130391133_130721299 | 130392922 | T | TGCGTCAG others(603): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0147 | 1 | 180 | 0.0056 | 610 | c.*44 others(621): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3210 | chr12 | TogoVar | ||||||
| RIMBP2_chr12_130391133_130721299 | 130392922 | T | TGCGTCAG others(603): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 180 | 0.0056 | 610 | c.*44 others(621): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3210 | chr12 | TogoVar | ||||||
| RIMBP2_chr12_130391133_130721299 | 130392922 | T | TGCGTCAG others(603): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(49): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(13): Show | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0001t0001g0029others(49): Show | 52 | 180 | 0.2889 | 610 | c.*44 others(621): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3210 | chr12 | TogoVar | ||||||
| RIMBP2_chr12_130391133_130721299 | 130392922 | T | TGCGTCAG others(603): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 180 | 0.0056 | 610 | c.*44 others(621): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3210 | chr12 | TogoVar | ||||||
| RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCACAGC others(603): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0295 | 1 | 408 | 0.0025 | 610 | c.727 others(623): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
| RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(603): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 170 | 0.0059 | 610 | c.59- others(627): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
| SATL1_chrX_85087284_85248779 | 85088046 | G | GTATTTAT others(603): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 232 | 0.0043 | 610 | c.*43 others(621): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4237 | chrX | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339770 | A | ATTCTATC others(603): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0237 | 1 | 280 | 0.0036 | 610 | c.89- others(623): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SHROOM3_chr4_76430229_76788253 | 76608743 | T | TAGCATAG others(603): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0014 | a0014c0014 | a0014c0014t0023 | a0014c0014t0023g0072 | 1 | 218 | 0.0046 | 610 | c.323 others(629): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(603): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 346 | 0.0029 | 610 | c.-70 others(627): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
| SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(603): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 346 | 0.0029 | 610 | c.-70 others(627): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
| SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(603): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 346 | 0.0029 | 610 | c.-70 others(627): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
| SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(603): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 302 | 0.0033 | 610 | c.12+ others(625): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35914334 | G | GTGTGTGT others(603): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 NA18998.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 2 | 420 | 0.0048 | 610 | c.*36 others(621): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2649 | chr9 | TogoVar | ||||||
| SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(603): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 268 | 0.0037 | 610 | c.*75 others(621): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | ||||||
| TERT_chr5_1248167_1300068 | 1273533 | C | CCGTGATC others(603): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0190 | 1 | 392 | 0.0026 | 610 | c.228 others(629): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376820 | T | TCTGTGCC others(603): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049a0001c0001t0002g0050 | 2 | 370 | 0.0054 | 610 | c.-85 others(619): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 795 | chr19 | TogoVar | ||||||
| TMEM163_chr2_134450759_134724000 | 134608389 | A | AAGGAGGA others(603): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18983.hp1 NA18985.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0056a0001c0001t0003g0044a0001c0001t0003g0128others(2): Show | 5 | 222 | 0.0225 | 610 | c.323 others(629): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157311530 | G | GGCCTCCT others(603): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 | 1 | 344 | 0.0029 | 610 | c.327 others(627): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TMEM242_chr6_157284025_157328519 | 157313113 | T | TGCTGAGC others(603): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0274a0001c0001t0008g0315a0001c0001t0008g0316others(2): Show | 5 | 344 | 0.0145 | 610 | c.327 others(627): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2377592 | C | CCTCTCCC others(603): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0067 | 1 | 114 | 0.0088 | 610 | c.-25 others(629): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2418883 | T | TTCCCTCC others(603): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG02135.hp2 |
a0002a0015 | a0002c0002a0015c0015 | a0002c0002t0001a0015c0015t0001 | a0002c0002t0001g0025a0002c0002t0001g0100a0015c0015t0001g0031 | 3 | 114 | 0.0263 | 610 | c.215 others(627): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TNS3_chr7_47270154_47587111 | 47363030 | T | TCACCATC others(603): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02809.hp1 HG03453.hp2 others(1): Show |
a0001a0006 | a0001c0027a0006c0035a0006c0036others(1): Show | a0001c0027t0007a0006c0035t0002a0006c0036t0012others(1): Show | a0001c0027t0007g0185a0006c0035t0002g0005a0006c0036t0012g0088others(1): Show | 4 | 196 | 0.0204 | 610 | c.228 others(629): Show |
TNS3 | ENSG00000136205.18 | transcript | ENST00000311160.14 | protein_coding | 17/30 | chr7 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930893 | T | TGGGGTTA others(603): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 466 | 0.0022 | 610 | c.*46 others(621): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4476 | chr11 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507168 | C | CATACGTA others(603): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02155.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0038 | a0001c0001t0001g0027a0001c0001t0001g0092a0001c0001t0001g0175others(2): Show | 6 | 388 | 0.0155 | 610 | c.-23 others(627): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(603): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG01167.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037a0001c0001t0052 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0042others(7): Show | 12 | 388 | 0.0309 | 610 | c.-23 others(627): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TRAPPC12_chr2_3374694_3484565 | 3438060 | A | AATCACCC others(603): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0251 | 1 | 344 | 0.0029 | 610 | c.141 others(629): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TRIM48_chr11_55257155_55276114 | 55273308 | T | TTATATAT others(603): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 272 | 0.0037 | 610 | c.*28 others(621): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2195 | chr11 | TogoVar | ||||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(603): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0048 | 1 | 334 | 0.0030 | 610 | c.657 others(625): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| WDR64_chr1_241647281_241807777 | 241674918 | T | TCCTTCCT others(603): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0005 | a0005c0020 | a0005c0020t0004 | a0005c0020t0004g0185 | 1 | 326 | 0.0031 | 610 | c.483 others(625): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | ||||||
| WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(603): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0203 | 1 | 326 | 0.0031 | 610 | c.483 others(625): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(603): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0232 | 1 | 290 | 0.0035 | 610 | c.205 others(629): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76401740 | T | TCTCCACC others(603): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0020 | 1 | 346 | 0.0029 | 610 | c.181 others(631): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(604): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0048 | 1 | 249 | 0.0040 | 611 | c.49- others(626): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1153808 | A | ACGGGAGG others(604): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02135.hp1 NA18948.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0199a0001c0001t0002g0114a0001c0001t0003g0068others(6): Show | 9 | 337 | 0.0267 | 611 | c.61+ others(628): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1153808 | A | ACGGGAGG others(604): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0042 | 1 | 337 | 0.0030 | 611 | c.61+ others(628): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1153808 | A | ACGGGAGG others(604): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02071.hp2 HG02129.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0182a0001c0001t0004g0252a0001c0001t0005g0322others(1): Show | 4 | 337 | 0.0119 | 611 | c.61+ others(628): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1153808 | A | ACGGGAGG others(604): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0091 | 1 | 337 | 0.0030 | 611 | c.61+ others(628): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1153808 | A | ACGGGAGG others(604): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0304 | 1 | 337 | 0.0030 | 611 | c.61+ others(628): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(604): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 NA21309.hp2 |
a0003 | a0003c0006a0003c0048 | a0003c0006t0021a0003c0048t0041 | a0003c0006t0021g0088a0003c0006t0021g0089a0003c0048t0041g0168 | 3 | 228 | 0.0132 | 611 | c.259 others(632): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
| AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(604): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 301 | 0.0033 | 611 | c.125 others(632): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(604): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0000 | 1 | 416 | 0.0024 | 611 | c.*10 others(624): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
| AP2A2_chr11_920870_1017240 | 975421 | T | TGTGTGAG others(604): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02717.hp2 others(4): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0004a0003c0007t0004 | a0001c0002t0004g0227a0001c0002t0004g0229a0001c0002t0004g0236others(4): Show | 7 | 268 | 0.0261 | 611 | c.474 others(628): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1825077 | T | TCCACCTG others(604): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0044 | a0004c0044t0002 | a0004c0044t0002g0328 | 1 | 363 | 0.0028 | 611 | c.-48 others(626): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| B3GNTL1_chr17_82937149_83056770 | 83022566 | G | GCCCACCT others(604): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0258 | 1 | 266 | 0.0038 | 611 | c.298 others(628): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83022660 | G | GCCCACCT others(604): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0012 | 1 | 266 | 0.0038 | 611 | c.298 others(628): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| BOK_chr2_241553745_241579131 | 241570728 | G | GGGAGGGA others(604): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0276 | 1 | 434 | 0.0023 | 611 | c.513 others(626): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BRF1_chr14_105204286_105306001 | 105238027 | T | TGTGGCAC others(604): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 72 | 0.0139 | 611 | c.694 others(628): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
| C13orf46_chr13_113948705_113979076 | 113974180 | C | CTGGGGCG others(604): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0012 | 1 | 414 | 0.0024 | 611 | c.-18 others(620): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 105 | chr13 | TogoVar | ||||||
| C13orf46_chr13_113948705_113979076 | 113974180 | C | CTGGGGCG others(604): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0043 | a0002c0002t0043g0070 | 1 | 414 | 0.0024 | 611 | c.-18 others(620): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 105 | chr13 | TogoVar |