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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POLG_chr15_89311320_89339824 | 89325141 | A | AGAGAGTG others(97): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 395 | 0.0025 | 104 | c.194 others(121): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POTEC_chr18_14502339_14548600 | 14543600 | T | TGCGCGTG others(97): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01516.hp1 HG01517.hp1 others(5): Show |
a0005a0006a0007others(1): Show | a0005c0005a0006c0009a0007c0006others(1): Show | a0005c0005t0005a0005c0005t0012a0006c0009t0010others(2): Show | a0005c0005t0005g0048 a0005c0005t0005g0050 a0005c0005t0012g0004 others(3): Show |
8 | 303 | 0.0264 | 104 | c.-45 others(113): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 1 | chr18 | TogoVar | |||||||
POTEC_chr18_14502339_14548600 | 14543632 | T | TGCGGGGC others(97): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 NA19054.hp1 NA19065.hp2 others(1): Show |
a0001a0024 | a0001c0001a0024c0019 | a0001c0001t0003a0001c0001t0019a0024c0019t0003 | a0001c0001t0003g0005 a0001c0001t0003g0019 a0001c0001t0019g0074 others(1): Show |
4 | 308 | 0.0130 | 104 | c.-48 others(113): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 33 | chr18 | TogoVar | |||||||
PPARGC1A_chr4_23787021_23895047 | 23844786 | A | AATATATG others(97): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 a0001c0001t0003g0161 a0001c0001t0003g0162 |
3 | 80 | 0.0375 | 104 | c.235 others(123): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
PPM1L_chr3_160751231_161083902 | 160944813 | T | TATATGTT others(97): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0026a0001c0001t0031 | a0001c0001t0009g0024 a0001c0001t0009g0025 a0001c0001t0026g0160 others(1): Show |
4 | 204 | 0.0196 | 104 | c.400 others(123): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6336649 | C | CTCCCTCC others(97): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0039 a0001c0001t0016g0247 |
2 | 171 | 0.0117 | 104 | c.791 others(121): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131916820 | G | GGTGGGCG others(97): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 a0001c0001t0002g0245 |
2 | 391 | 0.0051 | 104 | c.100 others(123): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3181486 | A | AAGCAGTC others(97): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0065 | 1 | 159 | 0.0063 | 104 | c.38- others(119): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
PRICKLE3_chrX_49169802_49191373 | 49181565 | G | GTATATGT others(97): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(31): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0004t0001a0001c0006t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 others(14): Show |
34 | 41 | 0.8293 | 104 | c.313 others(121): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 3/8 | chrX | TogoVar | |||||||
PRICKLE3_chrX_49169802_49191373 | 49181565 | G | GTATATGT others(97): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 8 | 0.1250 | 104 | c.313 others(121): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 3/8 | chrX | TogoVar | |||||||
PRICKLE3_chrX_49169802_49191373 | 49181565 | G | GTATATGT others(97): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(162): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(49): Show |
165 | 172 | 0.9593 | 104 | c.313 others(121): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 3/8 | chrX | TogoVar | |||||||
PRICKLE3_chrX_49169802_49191373 | 49181565 | G | GTATATGT others(97): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 8 | 0.1250 | 104 | c.313 others(121): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 3/8 | chrX | TogoVar | |||||||
PRICKLE3_chrX_49169802_49191373 | 49181565 | G | GTATATGT others(97): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 8 | 0.1250 | 104 | c.313 others(121): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 3/8 | chrX | TogoVar | |||||||
PRIM2_chr6_57312630_57651850 | 57470391 | G | GCCTCTCC others(97): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0007 | 1 | 253 | 0.0040 | 104 | c.694 others(123): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57470402 | T | TCTCCCCT others(97): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0006 | 1 | 293 | 0.0034 | 104 | c.694 others(123): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57470417 | T | TCTCCCCT others(97): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01261.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0201 a0001c0003t0003g0021 a0001c0003t0003g0022 others(1): Show |
4 | 256 | 0.0156 | 104 | c.694 others(123): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRKAR2A_chr3_48741586_48852874 | 48829590 | A | ATATACAC others(97): Show |
intron_variant | MODIFIER | HG02723.hp2 NA18522.hp2 NA20129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0005g0040 others(1): Show |
4 | 107 | 0.0374 | 104 | c.262 others(123): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
PRKD1_chr14_29571479_29932847 | 29826161 | C | CACATATA others(97): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0044 a0001c0002t0001g0104 a0001c0002t0002g0027 others(2): Show |
5 | 128 | 0.0391 | 104 | c.265 others(125): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 162011276 | A | ACTATATT others(97): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 17 | 0.0588 | 104 | c.619 others(123): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | |||||||
PRKRIP1_chr7_102391363_102431666 | 102430640 | A | AAGGGAAG others(97): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 226 | 0.0044 | 104 | c.*55 others(115): Show |
PRKRIP1 | ENSG00000128563.13 | transcript | ENST00000397912.3 | protein_coding | 3975 | chr7 | TogoVar | |||||||
PRMT2_chr21_46630674_46670124 | 46645268 | A | AAAAAAAA others(97): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 others(101): Show |
165 | 345 | 0.4783 | 104 | c.327 others(119): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT2_chr21_46630674_46670124 | 46645268 | A | AAAAAAAA others(97): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18951.hp1 NA18994.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 a0001c0001t0003g0147 a0001c0001t0003g0164 |
6 | 186 | 0.0323 | 104 | c.327 others(119): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT2_chr21_46630674_46670124 | 46645268 | A | AAAAAAAA others(97): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00735.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0100 others(4): Show |
12 | 192 | 0.0625 | 104 | c.327 others(119): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT2_chr21_46630674_46670124 | 46645268 | A | AAAAAAAA others(97): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0025 a0001c0001t0002g0036 others(28): Show |
56 | 236 | 0.2373 | 104 | c.327 others(119): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRMT2_chr21_46630674_46670124 | 46645276 | A | AAATAGAA others(97): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0073 | 1 | 405 | 0.0025 | 104 | c.327 others(119): Show |
PRMT2 | ENSG00000160310.19 | transcript | ENST00000355680.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133740 | C | CTCCCTCC others(97): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 221 | 0.0045 | 104 | c.*23 others(115): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2028 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTCCCTCC others(97): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 73 | 0.0137 | 104 | c.*23 others(115): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(97): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 73 | 0.0137 | 104 | c.*23 others(115): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133838 | T | TCTCCACC others(97): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 222 | 0.0045 | 104 | c.*24 others(115): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2126 | chr19 | TogoVar | |||||||
PRR35_chr16_555394_570529 | 565736 | A | AGGAGAGC others(97): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 362 | 0.0028 | 104 | c.*42 others(113): Show |
PRR35 | ENSG00000161992.6 | transcript | ENST00000409413.4 | protein_coding | 208 | chr16 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36351140 | A | ATATATTT others(97): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0003 | a0001c0001t0001g0235 a0001c0001t0002g0238 a0001c0001t0002g0239 others(1): Show |
4 | 226 | 0.0177 | 104 | c.-12 others(125): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170682343 | T | TAAGCCTG others(97): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 | 1 | 276 | 0.0036 | 104 | c.241 others(123): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170682343 | T | TAAGCCTG others(97): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 276 | 0.0036 | 104 | c.241 others(123): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18594195 | C | CATATTAT others(97): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0009 | a0004c0009t0012 | a0004c0009t0012g0151 | 1 | 181 | 0.0055 | 104 | c.248 others(123): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18594195 | C | CATATTAT others(97): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0004 | a0004c0010 | a0004c0010t0012 | a0004c0010t0012g0118 | 1 | 181 | 0.0055 | 104 | c.248 others(123): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18594244 | A | ATATACAT others(97): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 223 | 0.0045 | 104 | c.248 others(123): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141395575 | G | GTGGGCCA others(97): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0046 | 1 | 320 | 0.0031 | 104 | c.-85 others(123): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141395724 | T | TAGGTGCG others(97): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 317 | 0.0063 | 104 | c.-85 others(123): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTPN21_chr14_88460778_88560007 | 88546003 | A | AAAAAAAA others(97): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02145.hp2 HG06807.hp1 others(1): Show |
a0003a0008 | a0003c0005a0008c0012 | a0003c0005t0007a0008c0012t0007 | a0003c0005t0007g0070 a0003c0005t0007g0071 a0008c0012t0007g0074 others(1): Show |
4 | 346 | 0.0116 | 104 | c.180 others(121): Show |
PTPN21 | ENSG00000070778.13 | transcript | ENST00000556564.6 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70626300 | T | TATCTATC others(97): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0007 | 1 | 292 | 0.0034 | 104 | c.452 others(121): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 2/33 | chr12 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8782058 | C | CGTTTATG others(97): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0032 | 1 | 8 | 0.1250 | 104 | c.-10 others(125): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8929837 | A | ATATGTGT others(97): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02683.hp1 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0011a0001c0012t0016 | a0001c0002t0011g0030 a0001c0012t0016g0028 |
2 | 19 | 0.1053 | 104 | c.-10 others(125): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10438010 | T | TATATATA others(97): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 NA21309.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0015a0001c0003t0023 | a0001c0002t0003g0024 a0001c0002t0015g0010 a0001c0003t0023g0031 |
3 | 34 | 0.0882 | 104 | c.-59 others(125): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 2/45 | chr9 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132403992 | T | TAGGACGG others(97): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0152 | 1 | 155 | 0.0065 | 104 | c.126 others(119): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136237524 | A | ACACCTGG others(97): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0017 | a0001c0017t0011 | a0001c0017t0011g0168 | 1 | 389 | 0.0026 | 104 | c.328 others(121): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504509 | A | ACCCCCCT others(97): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0135 | 1 | 278 | 0.0036 | 104 | c.139 others(123): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58756321 | A | ATATATAT others(97): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0100 | 1 | 210 | 0.0048 | 104 | c.371 others(123): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAD17_chr5_69364818_69419801 | 69377540 | T | TATATATA others(97): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 347 | 0.0029 | 104 | c.351 others(121): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAD17_chr5_69364818_69419801 | 69377586 | C | CATATATA others(97): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00621.hp1 others(18): Show |
a0001a0009 | a0001c0001a0009c0006 | a0001c0001t0001a0009c0006t0004 | a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0068 others(18): Show |
21 | 337 | 0.0623 | 104 | c.351 others(121): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAD17_chr5_69364818_69419801 | 69377593 | A | ATATGCAT others(97): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 356 | 0.0028 | 104 | c.351 others(121): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |