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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(1027): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0119 | 1 | 248 | 0.0040 | 1034 | c.387 others(1053): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(1027): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0141 | 1 | 169 | 0.0059 | 1034 | c.48- others(1051): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1027): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 416 | 0.0024 | 1034 | c.*10 others(1047): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(1027): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01261.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0031a0001c0001t0001g0042others(3): Show | 6 | 268 | 0.0224 | 1034 | c.474 others(1051): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1027): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 318 | 0.0031 | 1034 | c.285 others(1053): 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(1027): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0149 | 1 | 318 | 0.0031 | 1034 | c.285 others(1053): 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(1027): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0063 | 1 | 210 | 0.0048 | 1034 | c.273 others(1051): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1027): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01952.hp2 HG02273.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0189a0002c0004t0002g0194a0002c0004t0002g0195others(1): Show | 4 | 326 | 0.0123 | 1034 | c.327 others(1051): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1027): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0188 | 1 | 326 | 0.0031 | 1034 | c.327 others(1051): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AAAGGGAA others(1027): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 326 | 0.0031 | 1034 | c.327 others(1051): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 421676 | A | AACACACA others(1027): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0331 | 1 | 432 | 0.0023 | 1034 | c.413 others(1051): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CELF4_chr18_37238040_37570798 | 37283949 | T | TATAGCCC others(1027): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0113 | 1 | 184 | 0.0054 | 1034 | c.449 others(1051): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1027): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0115 | 1 | 278 | 0.0036 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1027): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0212 | 1 | 278 | 0.0036 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1027): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01123.hp2 others(33): Show |
a0002a0015a0016others(7): Show | a0002c0004a0002c0005a0002c0008others(12): Show | a0002c0004t0002a0002c0005t0002a0002c0008t0002others(13): Show | a0002c0004t0002g0032a0002c0004t0002g0065a0002c0004t0002g0070others(33): Show | 36 | 278 | 0.1295 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1027): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0083 | 1 | 278 | 0.0036 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929386 | A | AGGGGACA others(1027): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0074 | 1 | 278 | 0.0036 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929391 | A | ACAGGTCT others(1027): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0082 | 1 | 278 | 0.0036 | 1034 | c.328 others(1051): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(1027): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0063 | a0063c0070 | a0063c0070t0001 | a0063c0070t0001g0019 | 1 | 252 | 0.0040 | 1034 | c.118 others(1053): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1027): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0009 | a0009c0141 | a0009c0141t0001 | a0009c0141t0001g0166 | 1 | 252 | 0.0040 | 1034 | c.118 others(1053): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1027): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0020 | a0020c0070 | a0020c0070t0002 | a0020c0070t0002g0229 | 1 | 292 | 0.0034 | 1034 | c.228 others(1051): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1027): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0017 | a0017c0038 | a0017c0038t0004 | a0017c0038t0004g0080 | 1 | 369 | 0.0027 | 1034 | c.-49 others(1045): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1027): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02258.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0002 | a0001c0001t0001g0231a0001c0001t0010g0248a0001c0002t0002g0229 | 3 | 408 | 0.0074 | 1034 | c.-14 others(1053): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1027): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 418 | 0.0024 | 1034 | c.119 others(1053): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586500 | C | CGGGGGGG others(1027): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 308 | 0.0033 | 1034 | c.157 others(1051): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 315730 | G | GACACAGA others(1027): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0091 | 1 | 155 | 0.0065 | 1034 | c.488 others(1049): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1027): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0096 | 1 | 155 | 0.0065 | 1034 | c.487 others(1049): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1027): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 276 | 0.0036 | 1034 | c.*65 others(1045): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1027): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 276 | 0.0036 | 1034 | c.*65 others(1045): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(1027): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0070 | 1 | 294 | 0.0034 | 1034 | c.153 others(1053): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1027): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1034 | c.-30 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1027): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 1 | 422 | 0.0024 | 1034 | c.-30 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1027): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0001 | 1 | 422 | 0.0024 | 1034 | c.-30 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1027): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 1 | 422 | 0.0024 | 1034 | c.-30 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1027): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01175.hp2 others(15): Show |
a0002a0007a0011 | a0002c0002a0002c0005a0007c0010others(1): Show | a0002c0002t0001a0002c0005t0001a0007c0010t0001others(1): Show | a0002c0002t0001g0001a0002c0005t0001g0001a0007c0010t0001g0001others(1): Show | 18 | 422 | 0.0427 | 1034 | c.-30 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1027): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1034 | c.-29 others(1045): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1317182 | C | CCACCCCA others(1027): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0330 | 1 | 388 | 0.0026 | 1034 | c.456 others(1051): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1027): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01243.hp1 |
a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0024 | 2 | 318 | 0.0063 | 1034 | c.-49 others(1045): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(1027): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0062 | 1 | 250 | 0.0040 | 1034 | c.225 others(1051): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGAGGG others(1027): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0234 | 1 | 308 | 0.0033 | 1034 | c.371 others(1051): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(1027): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0046 | 1 | 295 | 0.0034 | 1034 | c.126 others(1053): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(1027): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 334 | 0.0030 | 1034 | c.45- others(1049): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 242729 | A | ACCTTCCT others(1027): Show |
intron_variant | MODIFIER | HG01167.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0100a0001c0001t0010g0129 | 2 | 133 | 0.0150 | 1034 | c.613 others(1051): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
SLC7A1_chr13_29504414_29600688 | 29558352 | G | GGGGAGAG others(1027): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 | 1 | 330 | 0.0030 | 1034 | c.-11 others(1053): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1027): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0163 | 1 | 394 | 0.0025 | 1034 | c.129 others(1051): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1027): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 202 | 0.0050 | 1034 | c.*53 others(1045): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292564 | A | AACTCTAG others(1027): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0342 | 3 | 404 | 0.0074 | 1034 | c.339 others(1051): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46292619 | G | GAGTCAGC others(1027): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 404 | 0.0025 | 1034 | c.339 others(1051): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294472 | A | ACAGCCAC others(1027): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 404 | 0.0025 | 1034 | c.340 others(1051): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294617 | G | GAGTCAGC others(1027): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 404 | 0.0025 | 1034 | c.340 others(1051): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar |