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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1025): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01256.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(1): Show | a0001c0001t0001g0195a0001c0001t0006g0021a0001c0001t0006g0183others(2): Show | 5 | 232 | 0.0216 | 1032 | c.29- others(1047): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1025): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01255.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0058a0001c0002t0040 | a0001c0001t0002g0056a0001c0001t0002g0057a0001c0001t0002g0081others(2): Show | 5 | 232 | 0.0216 | 1032 | c.29- others(1047): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1025): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0149a0001c0001t0004g0209a0001c0001t0023g0148others(1): Show | 4 | 232 | 0.0172 | 1032 | c.29- others(1047): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC6A12_chr12_185081_219157 | 197114 | C | CATCTATC others(1025): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0354 | 1 | 420 | 0.0024 | 1032 | c.107 others(1049): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(1025): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0361 | 1 | 420 | 0.0024 | 1032 | c.107 others(1049): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(1025): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0022 | a0004c0022t0007 | a0004c0022t0007g0224 | 1 | 420 | 0.0024 | 1032 | c.107 others(1049): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1025): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 186 | 0.0054 | 1032 | c.-50 others(1043): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870213 | C | CACACACA others(1025): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 338 | 0.0030 | 1032 | c.*35 others(1051): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1026): Show |
3_prime_UTR_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0090 | 1 | 350 | 0.0029 | 1033 | c.*23 others(1044): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1026): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 318 | 0.0031 | 1033 | c.285 others(1052): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1026): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0191 | 1 | 318 | 0.0031 | 1033 | c.285 others(1052): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1026): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 318 | 0.0031 | 1033 | c.285 others(1052): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1026): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0294 | 1 | 318 | 0.0031 | 1033 | c.285 others(1052): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1026): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 318 | 0.0031 | 1033 | c.285 others(1052): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1026): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 318 | 0.0031 | 1033 | c.285 others(1052): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1026): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0196a0001c0001t0004g0197 | 2 | 318 | 0.0063 | 1033 | c.285 others(1052): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1026): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 318 | 0.0031 | 1033 | c.285 others(1052): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1026): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0134 | 1 | 210 | 0.0048 | 1033 | c.273 others(1050): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAACG others(1026): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0246 | 1 | 326 | 0.0031 | 1033 | c.327 others(1050): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(1026): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0129a0001c0001t0025g0162 | 2 | 184 | 0.0109 | 1033 | c.449 others(1050): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1026): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 278 | 0.0036 | 1033 | c.328 others(1050): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1026): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0055 | a0001c0055t0001 | a0001c0055t0001g0230 | 1 | 278 | 0.0036 | 1033 | c.328 others(1050): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1026): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0010 | a0010c0025 | a0010c0025t0001 | a0010c0025t0001g0162 | 1 | 278 | 0.0036 | 1033 | c.328 others(1050): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500731 | G | GGTGTGTG others(1026): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0239 | 1 | 292 | 0.0034 | 1033 | c.268 others(1052): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGGGAGA others(1026): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 1033 | c.*29 others(1044): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355671 | G | GGGAGGAA others(1026): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 82 | 0.0122 | 1033 | c.757 others(1048): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1026): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03195.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0232a0001c0001t0002g0249a0001c0001t0003g0355others(1): Show | 4 | 408 | 0.0098 | 1033 | c.-14 others(1052): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241349 | C | CCCCTTCC others(1026): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 183 | 0.0055 | 1033 | c.107 others(1052): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241364 | C | CTCCCTAT others(1026): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 183 | 0.0055 | 1033 | c.107 others(1052): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 321751 | C | CAAAAAAA others(1026): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0076 | 1 | 155 | 0.0065 | 1033 | c.-29 others(1044): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2956 | chrX | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(1026): Show |
upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 323 | 0.0031 | 1033 | c.-21 others(1044): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1026): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0242 | 1 | 276 | 0.0036 | 1033 | c.*65 others(1044): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173024 | T | TCTCCCCC others(1026): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0134 | 1 | 158 | 0.0063 | 1033 | c.*11 others(1054): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRP1B_chr2_140226423_142136016 | 142027732 | T | TGAAAGCT others(1026): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0010 | a0001c0010t0011 | a0001c0010t0011g0028 | 1 | 28 | 0.0357 | 1033 | c.82+ others(1052): Show |
LRP1B | ENSG00000168702.18 | transcript | ENST00000389484.8 | protein_coding | 1/90 | chr2 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1026): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0146 | 1 | 394 | 0.0025 | 1033 | c.-8+ others(1046): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1026): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0016 | 1 | 376 | 0.0027 | 1033 | c.*15 others(1044): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(1026): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 160 | 0.0063 | 1033 | c.389 others(1054): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(1026): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 324 | 0.0031 | 1033 | c.115 others(1050): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50678994 | G | GTGGGGAG others(1026): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0001 | a0002c0001t0062 | a0002c0001t0062g0037 | 1 | 316 | 0.0032 | 1033 | c.257 others(1052): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005580 | T | TCATCACC others(1026): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 436 | 0.0023 | 1033 | c.*11 others(1052): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATA3_chr2_230991121_231013040 | 231005580 | T | TCATCACC others(1026): Show |
intron_variant | MODIFIER | HG03654.hp1 NA19066.hp1 |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0052 | 2 | 436 | 0.0046 | 1033 | c.*11 others(1052): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATA3_chr2_230991121_231013040 | 231005580 | T | TCATCACC others(1026): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01928.hp1 others(35): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0007 | a0001c0001t0001a0003c0003t0001a0003c0003t0005others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0034a0003c0003t0001g0006others(13): Show | 38 | 436 | 0.0872 | 1033 | c.*11 others(1052): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATA3_chr2_230991121_231013040 | 231005580 | T | TCATCACC others(1026): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(108): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0013others(41): Show | 111 | 436 | 0.2546 | 1033 | c.*11 others(1052): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATA3_chr2_230991121_231013040 | 231005580 | T | TCATCACC others(1026): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01257.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 5 | 436 | 0.0115 | 1033 | c.*11 others(1052): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1026): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 360 | 0.0056 | 1033 | c.*24 others(1044): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1026): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 202 | 0.0050 | 1033 | c.*53 others(1044): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1741269 | A | AGCAGGAC others(1026): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0042 | 1 | 431 | 0.0023 | 1033 | c.*35 others(1044): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2685 | chr17 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292564 | A | AACTCTAG others(1026): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 404 | 0.0025 | 1033 | c.339 others(1050): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46293518 | A | ACAAGTTA others(1026): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0370 | 1 | 404 | 0.0025 | 1033 | c.339 others(1050): 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(1026): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0380 | 1 | 404 | 0.0025 | 1033 | c.340 others(1050): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |