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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2025): Show |
intron_variant | MODIFIER | NA19009.hp1 NA19063.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0073 a0001c0002t0001g0104 |
2 | 23 | 0.0870 | 2032 | c.-90 others(2047): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2025): Show |
intron_variant | MODIFIER | HG03704.hp1 NA19010.hp2 |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0014a0002c0011t0004 | a0001c0001t0014g0027 a0002c0011t0004g0074 |
2 | 23 | 0.0870 | 2032 | c.-90 others(2047): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2025): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02004.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0002a0001c0002t0003a0001c0013t0003 | a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0002t0003g0080 others(1): Show |
4 | 25 | 0.1600 | 2032 | c.-90 others(2047): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2025): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 22 | 0.0455 | 2032 | c.-90 others(2047): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14212238 | T | TATTTACT others(2025): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0103 | 1 | 109 | 0.0092 | 2032 | c.212 others(2053): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC others(2025): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0058 | 1 | 17 | 0.0588 | 2032 | c.*11 others(2053): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(2025): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 135 | 0.0074 | 2032 | c.*31 others(2043): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3639432 | T | TGGGGGTG others(2025): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0060 | 1 | 216 | 0.0046 | 2032 | c.719 others(2049): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2025): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0062 | 1 | 43 | 0.0233 | 2032 | c.-12 others(2053): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976616 | C | CCACGCAG others(2025): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0023 | a0023c0083 | a0023c0083t0044 | a0023c0083t0044g0004 | 1 | 63 | 0.0159 | 2032 | c.199 others(2051): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(2025): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0084 | 1 | 45 | 0.0222 | 2032 | c.332 others(2051): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46170550 | T | TGGAGGAG others(2025): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 28 | 0.0357 | 2032 | c.194 others(2049): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870216 | A | ACACACAC others(2025): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 291 | 0.0034 | 2032 | c.*35 others(2051): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2025): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0010 | a0010c0010 | a0010c0010t0003 | a0010c0010t0003g0139 | 1 | 356 | 0.0028 | 2032 | c.341 others(2049): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501132 | G | GGGCCCTC others(2025): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0007 | a0005c0007t0009 | a0005c0007t0009g0308 | 1 | 222 | 0.0045 | 2032 | c.268 others(2051): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88501132 | G | GGGCCCTC others(2025): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01361.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0009a0002c0011others(1): Show | a0001c0001t0004a0002c0009t0012a0002c0011t0034others(2): Show | a0001c0001t0004g0178 a0002c0009t0012g0002 a0002c0011t0034g0019 others(2): Show |
6 | 227 | 0.0264 | 2032 | c.268 others(2051): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049873 | G | GGCCCCCC others(2026): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0004 | 1 | 24 | 0.0417 | 2033 | c.255 others(2050): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2026): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 22 | 0.0455 | 2033 | c.-90 others(2048): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2026): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 22 | 0.0455 | 2033 | c.-90 others(2048): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2026): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 22 | 0.0455 | 2033 | c.-90 others(2048): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2026): Show |
intron_variant | MODIFIER | HG03831.hp2 NA19062.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0034 a0001c0002t0004g0083 |
2 | 23 | 0.0870 | 2033 | c.-90 others(2048): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2026): Show |
intron_variant | MODIFIER | HG01981.hp2 NA19011.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0103 |
3 | 24 | 0.1250 | 2033 | c.-90 others(2048): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2026): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0088 | 1 | 22 | 0.0455 | 2033 | c.-90 others(2048): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2026): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0011 | 1 | 22 | 0.0455 | 2033 | c.-90 others(2048): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252881 | T | TCACCACC others(2026): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0317 | 1 | 326 | 0.0031 | 2033 | c.666 others(2050): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACAGA others(2026): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0138 | 1 | 67 | 0.0149 | 2033 | c.487 others(2048): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2026): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0007 | a0007c0039 | a0007c0039t0002 | a0007c0039t0002g0134 | 1 | 95 | 0.0105 | 2033 | c.*11 others(2054): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2026): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 224 | 0.0045 | 2033 | c.*39 others(2044): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(2026): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0087 | a0001c0087t0009 | a0001c0087t0009g0054 | 1 | 45 | 0.0222 | 2033 | c.332 others(2052): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(2026): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0273 a0001c0001t0035g0275 |
2 | 5 | 0.4000 | 2033 | c.*12 others(2046): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2026): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0035 | 1 | 20 | 0.0500 | 2033 | c.206 others(2052): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325187 | G | GGGGCGGG others(2026): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0119 | 1 | 149 | 0.0067 | 2033 | c.531 others(2050): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2026): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 28 | 0.0357 | 2033 | c.-50 others(2044): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2026): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01257.hp1 others(25): Show |
a0001a0018 | a0001c0001a0018c0024 | a0001c0001t0003a0018c0024t0003 | a0001c0001t0003g0003 a0001c0001t0003g0015 a0001c0001t0003g0042 others(9): Show |
28 | 383 | 0.0731 | 2033 | c.341 others(2050): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2027): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0012 | a0012c0042 | a0012c0042t0031 | a0012c0042t0031g0039 | 1 | 44 | 0.0227 | 2034 | c.108 others(2051): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2027): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 44 | 0.0227 | 2034 | c.108 others(2051): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2027): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 195 | 0.0051 | 2034 | c.648 others(2051): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293567 | G | GGCCCACC others(2027): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0144 | 1 | 106 | 0.0094 | 2034 | c.411 others(2051): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2027): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 22 | 0.0455 | 2034 | c.-90 others(2049): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2027): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0082 | 1 | 22 | 0.0455 | 2034 | c.-90 others(2049): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2027): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 22 | 0.0455 | 2034 | c.-90 others(2049): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2027): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 | 1 | 22 | 0.0455 | 2034 | c.-90 others(2049): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2027): Show |
intron_variant | MODIFIER | NA19030.hp2 NA20300.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0008 | a0002c0001t0001g0005 a0002c0001t0008g0005 |
2 | 3 | 0.6667 | 2034 | c.126 others(2051): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRID2_chr4_92298966_93779566 | 92649026 | T | TCAATTTA others(2027): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 32 | 0.0313 | 2034 | c.244 others(2053): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(2027): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 15 | 0.0667 | 2034 | c.61+ others(2053): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 67927791 | T | TATATATA others(2027): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 82 | 0.0122 | 2034 | c.756 others(2053): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744721 | T | TCCTGGTT others(2027): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0032 | 1 | 122 | 0.0082 | 2034 | c.655 others(2051): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4083708 | T | TCCTCCCT others(2027): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0014 | a0014c0085 | a0014c0085t0043 | a0014c0085t0043g0010 | 1 | 45 | 0.0222 | 2034 | c.332 others(2053): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 22/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(2027): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 259 | 0.0039 | 2034 | c.101 others(2053): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2027): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 2 | 357 | 0.0056 | 2034 | c.341 others(2051): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar |