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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SVOPL_chr7_138589285_138706362 | 138611875 | G | GCCACCCC others(1617): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0080 | 1 | 360 | 0.0028 | 1624 | c.135 others(1643): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
TECTA_chr11_121096243_121196490 | 121185949 | T | TTAATGAA others(1617): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02818.hp2 |
a0002a0021 | a0002c0015a0021c0048 | a0002c0015t0002a0021c0048t0002 | a0002c0015t0002g0015 a0021c0048t0002g0015 |
2 | 348 | 0.0058 | 1624 | c.600 others(1643): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | chr11 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(1617): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 404 | 0.0025 | 1624 | c.340 others(1641): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1618): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 58 | 0.0172 | 1625 | c.510 others(1644): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1618): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0052 | 1 | 58 | 0.0172 | 1625 | c.510 others(1644): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1618): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 364 | 0.0028 | 1625 | c.445 others(1640): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1618): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0012 | a0001c0001t0001g0142 a0001c0002t0012g0109 |
2 | 292 | 0.0069 | 1625 | c.268 others(1644): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1618): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 276 | 0.0036 | 1625 | c.*52 others(1636): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79685061 | G | GGAGTGTG others(1618): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 378 | 0.0027 | 1625 | c.314 others(1642): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1618): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0344 | 1 | 402 | 0.0025 | 1625 | c.292 others(1644): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1618): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 402 | 0.0025 | 1625 | c.292 others(1644): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1618): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297 | 1 | 402 | 0.0025 | 1625 | c.292 others(1644): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1618): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 | 1 | 402 | 0.0025 | 1625 | c.292 others(1644): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1618): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 402 | 0.0025 | 1625 | c.292 others(1644): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1618): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 a0001c0001t0002g0255 |
2 | 402 | 0.0050 | 1625 | c.292 others(1644): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1618): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 402 | 0.0025 | 1625 | c.292 others(1644): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997233 | G | GGGGCGAC others(1618): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 375 | 0.0027 | 1625 | c.-22 others(1636): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 437 | chr6 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(1618): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 NA19012.hp1 |
a0010a0113 | a0010c0006a0113c0075 | a0010c0006t0001a0113c0075t0001 | a0010c0006t0001g0135 a0010c0006t0001g0136 a0113c0075t0001g0120 |
3 | 186 | 0.0161 | 1625 | c.723 others(1642): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
RGCC_chr13_41452550_41475871 | 41468930 | G | GCAGAAAG others(1618): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 448 | 0.0022 | 1625 | c.406 others(1640): Show |
RGCC | ENSG00000102760.13 | transcript | ENST00000379359.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1618): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01123.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0183 a0001c0004t0003g0184 a0001c0004t0003g0186 others(2): Show |
5 | 376 | 0.0133 | 1625 | c.141 others(1642): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1618): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0173 | 1 | 376 | 0.0027 | 1625 | c.141 others(1642): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1618): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0002 | a0001c0001t0002g0195 a0001c0010t0002g0194 |
2 | 376 | 0.0053 | 1625 | c.141 others(1642): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1618): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 322 | 0.0031 | 1625 | c.-93 others(1642): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TRIM62_chr1_33140399_33187043 | 33186818 | A | AATAGAAC others(1618): Show |
upstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 340 | 0.0029 | 1625 | c.-53 others(1636): Show |
TRIM62 | ENSG00000116525.14 | transcript | ENST00000291416.10 | protein_coding | 4776 | chr1 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948653 | A | AGGGGCGT others(1618): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 356 | 0.0028 | 1625 | c.114 others(1642): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(1618): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 404 | 0.0025 | 1625 | c.340 others(1642): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(1618): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 404 | 0.0025 | 1625 | c.340 others(1642): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ZFP41_chr8_143241939_143267705 | 143243373 | A | AGGAGGCG others(1618): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0031 | 1 | 316 | 0.0032 | 1625 | c.-39 others(1636): Show |
ZFP41 | ENSG00000181638.20 | transcript | ENST00000330701.7 | protein_coding | 3565 | chr8 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7520219 | C | CCTCCTCC others(1619): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0003 | a0003c0008 | a0003c0008t0007 | a0003c0008t0007g0023 | 1 | 58 | 0.0172 | 1626 | c.510 others(1645): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(1619): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0351 | 1 | 398 | 0.0025 | 1626 | c.666 others(1641): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 45956583 | A | AGCGATGC others(1619): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 340 | 0.0029 | 1626 | c.64- others(1641): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1619): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0031 | a0002c0002t0031g0128 | 1 | 276 | 0.0036 | 1626 | c.*52 others(1637): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(1619): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0283 | 1 | 324 | 0.0031 | 1626 | c.340 others(1643): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36314370 | G | GTGGAGGG others(1619): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0095 | 1 | 144 | 0.0069 | 1626 | c.-30 others(1645): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154063646 | C | CTTCCCCC others(1619): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0008 | a0002c0008t0012 | a0002c0008t0012g0001 | 1 | 38 | 0.0263 | 1626 | c.243 others(1645): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915628 | C | CATTAAGG others(1619): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 274 | 0.0037 | 1626 | c.179 others(1645): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152672 | T | TATCTCCT others(1619): Show |
intron_variant | MODIFIER | NA18979.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157 a0001c0001t0004g0161 |
2 | 274 | 0.0073 | 1626 | c.804 others(1643): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1619): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0035 | 1 | 242 | 0.0041 | 1626 | c.174 others(1645): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537879 | G | GGCCGCCC others(1619): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 256 | 0.0039 | 1626 | c.241 others(1645): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
NUDC_chr1_26916743_26951871 | 26939864 | A | ACCTCACT others(1619): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 254 | 0.0039 | 1626 | c.160 others(1643): Show |
NUDC | ENSG00000090273.14 | transcript | ENST00000321265.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(1619): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03710.hp2 |
a0001a0004 | a0001c0013a0004c0010 | a0001c0013t0013a0004c0010t0003 | a0001c0013t0013g0057 a0004c0010t0003g0196 |
2 | 272 | 0.0074 | 1626 | c.-12 others(1647): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(1619): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01255.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0003t0003a0003c0006t0001 | a0001c0001t0001g0029 a0001c0001t0001g0185 a0001c0003t0003g0256 others(2): Show |
5 | 272 | 0.0184 | 1626 | c.-12 others(1647): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547310 | T | TAAATTAT others(1619): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 334 | 0.0030 | 1626 | c.45- others(1641): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547310 | T | TAAATTAT others(1619): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0013 | a0013c0014 | a0013c0014t0001 | a0013c0014t0001g0004 | 1 | 334 | 0.0030 | 1626 | c.45- others(1641): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1619): Show |
intron_variant | MODIFIER | HG02155.hp1 HG03490.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0301 a0001c0020t0001g0299 |
2 | 376 | 0.0053 | 1626 | c.141 others(1643): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179594578 | A | AGTGAAAT others(1619): Show |
intron_variant | MODIFIER | HG01255.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 a0001c0001t0001g0290 |
2 | 376 | 0.0053 | 1626 | c.141 others(1643): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1619): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 322 | 0.0031 | 1626 | c.-93 others(1643): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273665 | A | ACATCAGA others(1619): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0095 | 1 | 392 | 0.0026 | 1626 | c.228 others(1645): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675133 | T | TCCCTCCC others(1619): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0011 | 1 | 326 | 0.0031 | 1626 | c.483 others(1641): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACGTGACC others(1619): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 302 | 0.0033 | 1626 | c.*40 others(1643): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar |