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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TWIST2_chr2_238843085_238915534 | 238870569 | C | CCCACACA others(413): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 338 | 0.0030 | 420 | c.*35 others(439): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370525 | G | GCGTGTGT others(413): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0398 | 1 | 468 | 0.0021 | 420 | c.-6- others(435): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917187 | C | CGGAGGCT others(413): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0017 | 1 | 344 | 0.0029 | 420 | c.218 others(437): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169197 | T | TCCTCTTC others(413): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 115 | 0.0087 | 420 | c.*83 others(429): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 746 | chrX | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CTATAGAT others(413): Show |
intron_variant | MODIFIER | HG02055.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243a0001c0001t0001g0244 | 2 | 408 | 0.0049 | 420 | c.53+ others(435): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842868 | A | AGATAGAT others(413): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 | 1 | 408 | 0.0025 | 420 | c.53+ others(435): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
VPS53_chr17_503668_719839 | 598887 | G | GCCAGGCC others(413): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0006 | a0001c0006t0041 | a0001c0006t0041g0001 | 1 | 232 | 0.0043 | 420 | c.121 others(439): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | ||||||
VWA5B2_chr3_184224585_184247329 | 184235770 | C | CCATGTGT others(413): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0047 | 1 | 342 | 0.0029 | 420 | c.110 others(437): Show |
VWA5B2 | ENSG00000145198.15 | transcript | ENST00000691901.1 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ZBTB43_chr9_126800040_126843210 | 126814265 | G | GATTTTTA others(413): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 388 | 0.0026 | 420 | c.-24 others(437): Show |
ZBTB43 | ENSG00000169155.10 | transcript | ENST00000373464.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ZFPM2_chr8_105313438_105809539 | 105380859 | A | AATATATA others(413): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 92 | 0.0109 | 420 | c.41- others(437): Show |
ZFPM2 | ENSG00000169946.14 | transcript | ENST00000407775.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(413): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0267 | 1 | 400 | 0.0025 | 420 | c.532 others(435): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16172204 | A | ATAAATGA others(414): Show |
intron_variant | MODIFIER | HG03540.hp2 NA18906.hp2 |
a0031a0032 | a0031c0060a0032c0059 | a0031c0060t0010a0032c0059t0001 | a0031c0060t0010g0240a0032c0059t0001g0009 | 2 | 357 | 0.0056 | 421 | c.278 others(440): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16172211 | A | AGTGGGTG others(414): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18978.hp1 NA18981.hp2 others(4): Show |
a0002a0006a0017 | a0002c0014a0006c0009a0017c0034 | a0002c0014t0001a0006c0009t0001a0017c0034t0001 | a0002c0014t0001g0331a0006c0009t0001g0116a0006c0009t0001g0118others(3): Show | 7 | 357 | 0.0196 | 421 | c.278 others(440): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1065011 | G | GTTATGTG others(414): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 | 1 | 337 | 0.0030 | 421 | c.118 others(440): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(414): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0139 | 1 | 228 | 0.0044 | 421 | c.259 others(442): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(414): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0001 | a0002c0001t0033 | a0002c0001t0033g0010 | 1 | 228 | 0.0044 | 421 | c.259 others(442): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(414): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0225 | 1 | 228 | 0.0044 | 421 | c.259 others(442): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(414): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0095 | 1 | 228 | 0.0044 | 421 | c.259 others(442): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(414): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0020 | a0020c0113 | a0020c0113t0029 | a0020c0113t0029g0276 | 1 | 276 | 0.0036 | 421 | c.535 others(438): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(414): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03540.hp2 |
a0001a0015 | a0001c0001a0015c0086 | a0001c0001t0001a0015c0086t0004 | a0001c0001t0001g0067a0015c0086t0004g0201 | 2 | 276 | 0.0073 | 421 | c.535 others(438): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(414): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG01258.hp1 others(20): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0034others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0002others(15): Show | a0001c0001t0001g0069a0001c0001t0004g0103a0001c0004t0002g0005others(20): Show | 23 | 276 | 0.0833 | 421 | c.535 others(438): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277979 | C | CCTCCGAG others(414): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0049 | a0001c0049t0004 | a0001c0049t0004g0149 | 1 | 276 | 0.0036 | 421 | c.535 others(438): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277979 | C | CCTCCGAG others(414): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0028 | a0028c0112 | a0028c0112t0001 | a0028c0112t0001g0206 | 1 | 276 | 0.0036 | 421 | c.535 others(438): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277979 | C | CCTCCGAG others(414): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0107 | a0003c0107t0011 | a0003c0107t0011g0212 | 1 | 276 | 0.0036 | 421 | c.535 others(438): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(414): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 352 | 0.0028 | 421 | c.*51 others(432): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(414): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0106 | 1 | 352 | 0.0028 | 421 | c.*51 others(432): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | ||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(414): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 352 | 0.0028 | 421 | c.*51 others(432): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61847896 | T | TTATATAT others(414): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0054 | 1 | 58 | 0.0172 | 421 | c.148 others(442): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113412847 | C | CCGCAGAG others(414): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0030 | a0030c0036 | a0030c0036t0092 | a0030c0036t0092g0163 | 1 | 262 | 0.0038 | 421 | c.106 others(440): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412948 | T | TGCCCCGC others(414): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 262 | 0.0038 | 421 | c.106 others(440): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113412948 | T | TGCCCCGC others(414): Show |
intron_variant | MODIFIER | NA18999.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208a0001c0001t0001g0209 | 2 | 262 | 0.0076 | 421 | c.106 others(440): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(414): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 236 | 0.0042 | 421 | c.409 others(440): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830941 | A | AGGGGAAG others(414): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03225.hp1 |
a0002a0003 | a0002c0008a0003c0005 | a0002c0008t0001a0003c0005t0002 | a0002c0008t0001g0044a0003c0005t0002g0045 | 2 | 80 | 0.0250 | 421 | c.667 others(440): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687192 | C | CCCCGTGA others(414): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 246 | 0.0041 | 421 | c.-15 others(432): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1347 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(414): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 246 | 0.0041 | 421 | c.-16 others(432): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687758 | C | CCCCGTGA others(414): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 246 | 0.0041 | 421 | c.-21 others(432): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1913 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1825143 | T | TTCACCTG others(414): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0149 | a0002c0149t0055 | a0002c0149t0055g0009 | 1 | 363 | 0.0028 | 421 | c.-48 others(438): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1825143 | T | TTCACCTG others(414): Show |
intron_variant | MODIFIER | NA19082.hp2 NA19085.hp1 |
a0002a0007 | a0002c0151a0007c0053 | a0002c0151t0001a0007c0053t0001 | a0002c0151t0001g0011a0007c0053t0001g0010 | 2 | 363 | 0.0055 | 421 | c.-48 others(438): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1825259 | A | ACCCGCAC others(414): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0036 | a0001c0036t0004 | a0001c0036t0004g0177 | 1 | 363 | 0.0028 | 421 | c.-48 others(438): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASB5_chr4_176208673_176274222 | 176218377 | A | ATTTGTAT others(414): Show |
intron_variant | MODIFIER | HG00609.hp2 HG04184.hp2 HG04228.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0262a0001c0002t0001g0267a0001c0002t0001g0290others(2): Show | 5 | 410 | 0.0122 | 421 | c.671 others(438): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194421126 | A | ATATATAT others(414): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0279 | 1 | 304 | 0.0033 | 421 | c.331 others(440): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82971659 | A | ACAGGGGC others(414): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0035 | 1 | 266 | 0.0038 | 421 | c.460 others(438): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145624 | T | TATATAAT others(414): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 1 | 398 | 0.0025 | 421 | c.*39 others(432): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3381 | chr22 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1204960 | C | CGATCAGT others(414): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0319a0002c0010t0001g0320 | 2 | 338 | 0.0059 | 421 | c.245 others(438): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(414): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0199 | 1 | 256 | 0.0039 | 421 | c.-45 others(442): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(414): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0198 | 1 | 256 | 0.0039 | 421 | c.-45 others(442): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(414): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0006 | 1 | 354 | 0.0028 | 421 | c.*69 others(432): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20357053 | A | AGTGTGAG others(414): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG03139.hp2 |
a0012a0022a0024 | a0012c0019a0022c0042a0024c0029 | a0012c0019t0003a0022c0042t0003a0024c0029t0003 | a0012c0019t0003g0120a0022c0042t0003g0128a0024c0029t0003g0132 | 3 | 236 | 0.0127 | 421 | c.351 others(440): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89647648 | G | GGACCCAG others(414): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 392 | 0.0026 | 421 | c.253 others(436): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110741228 | A | ACTTCTCC others(414): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 172 | 0.0058 | 421 | c.301 others(440): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4/11 | chrX | TogoVar |