| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AHRR_chr5_316714_443285 | 376527 | G | GGAAACAC others(630): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0005 | a0005c0005t0038 | a0005c0005t0038g0024 | 1 | 261 | 0.0038 | 637 | c.245 others(650): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687652 | C | CCCCCGTG others(630): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 191 | 0.0052 | 637 | c.-20 others(648): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1807 | chr8 | TogoVar | |||||||
| ASAP2_chr2_9201812_9410678 | 9305501 | T | TAGTAGTG others(630): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0067 | 1 | 114 | 0.0088 | 637 | c.345 others(654): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ASAP2_chr2_9201812_9410678 | 9305501 | T | TAGTAGTG others(630): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0031 a0001c0002t0009g0208 |
2 | 115 | 0.0174 | 637 | c.345 others(654): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ASAP2_chr2_9201812_9410678 | 9305501 | T | TAGTAGTG others(630): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02818.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0005 | a0001c0003t0001g0029 a0001c0004t0005g0010 |
2 | 115 | 0.0174 | 637 | c.345 others(654): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ASAP2_chr2_9201812_9410678 | 9305501 | T | TAGTAGTG others(630): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(15): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0003a0001c0003t0001a0001c0003t0006others(5): Show | a0001c0002t0003g0148 a0001c0003t0001g0039 a0001c0003t0001g0046 others(15): Show |
18 | 131 | 0.1374 | 637 | c.345 others(654): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ASAP2_chr2_9201812_9410678 | 9305501 | T | TAGTAGTG others(630): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02717.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0169 a0001c0003t0001g0171 a0001c0003t0001g0172 others(1): Show |
4 | 117 | 0.0342 | 637 | c.345 others(654): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| BBS5_chr2_169474494_169511655 | 169484989 | T | TAAAAATC others(630): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 a0001c0001t0003g0150 |
2 | 373 | 0.0054 | 637 | c.143 others(654): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(630): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0118 | 1 | 86 | 0.0116 | 637 | c.*21 others(652): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
| C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(630): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00673.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0029 others(7): Show |
23 | 108 | 0.2130 | 637 | c.*21 others(652): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
| CAPZA1_chr1_112614832_112676616 | 112640160 | G | GGCCAGCC others(630): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 366 | 0.0027 | 637 | c.40- others(652): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(630): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 4 | 0.2500 | 637 | c.712 others(654): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
| CDH4_chr20_61247261_61945617 | 61716380 | G | GCTGGACC others(630): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0010 | a0001c0010t0008 | a0001c0010t0008g0045 | 1 | 93 | 0.0108 | 637 | c.170 others(656): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61716380 | G | GCTGGACC others(630): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0007 | a0001c0007t0047 | a0001c0007t0047g0065 | 1 | 93 | 0.0108 | 637 | c.170 others(656): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| CNIH4_chr1_224351879_224384452 | 224378516 | A | ACTGAGGC others(630): Show |
3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0071 a0001c0001t0019g0072 |
2 | 17 | 0.1176 | 637 | c.*30 others(648): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 5/5 | 3094 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CNTN4_chr3_2093866_3062959 | 2705509 | A | ATATATAA others(630): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03130.hp1 HG03486.hp2 |
a0001a0002 | a0001c0002a0001c0024a0002c0016 | a0001c0002t0007a0001c0024t0015a0002c0016t0003 | a0001c0002t0007g0080 a0001c0024t0015g0057 a0002c0016t0003g0079 |
3 | 44 | 0.0682 | 637 | c.56- others(654): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
| COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(630): Show |
intron_variant | MODIFIER | NA18984.hp2 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0087 |
2 | 354 | 0.0056 | 637 | c.51+ others(652): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
| DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(630): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 279 | 0.0036 | 637 | c.-42 others(648): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
| EIF3B_chr7_2349827_2385745 | 2378317 | C | CCTGGGAA others(630): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0260 | 1 | 234 | 0.0043 | 637 | c.215 others(654): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| FKBP2_chr11_64236095_64249132 | 64237092 | A | AGGGAGAG others(630): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 325 | 0.0031 | 637 | c.-40 others(648): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 4002 | chr11 | TogoVar | |||||||
| GET4_chr7_871554_901436 | 889979 | G | GGGGTCTG others(630): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0233 | 1 | 325 | 0.0031 | 637 | c.467 others(652): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| GOLGA3_chr12_132763914_132833869 | 132776231 | C | CACAGGTA others(630): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02615.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0026a0001c0001t0027others(1): Show | a0001c0001t0017g0068 a0001c0001t0026g0053 a0001c0001t0027g0188 others(1): Show |
4 | 198 | 0.0202 | 637 | c.397 others(654): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 21/23 | chr12 | TogoVar | |||||||
| GOLGA3_chr12_132763914_132833869 | 132776231 | C | CACAGGTA others(630): Show |
intron_variant | MODIFIER | HG02818.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0028 | a0001c0001t0017g0190 a0001c0001t0028g0187 |
2 | 196 | 0.0102 | 637 | c.397 others(654): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 21/23 | chr12 | TogoVar | |||||||
| GRAMD4_chr22_46615386_46684785 | 46635747 | C | CCCCGACC others(630): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023 | 1 | 207 | 0.0048 | 637 | c.163 others(654): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(630): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01175.hp1 others(1): Show |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0002a0007c0007t0002 | a0003c0003t0002g0018 a0003c0003t0002g0039 a0003c0003t0002g0184 others(1): Show |
4 | 137 | 0.0292 | 637 | c.-28 others(648): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
| HOMEZ_chr14_23267422_23291132 | 23280740 | A | ATTTTATT others(630): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 119 | 0.0084 | 637 | c.41- others(652): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(630): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0176 a0001c0001t0006g0177 |
2 | 14 | 0.1429 | 637 | c.978 others(654): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(630): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0007 | a0007c0007 | a0007c0007t0007 | a0007c0007t0007g0240 | 1 | 233 | 0.0043 | 637 | c.127 others(656): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
| IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(630): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03098.hp2 NA20129.hp2 |
a0003 | a0003c0005 | a0003c0005t0013a0003c0005t0022 | a0003c0005t0013g0036 a0003c0005t0022g0068 a0003c0005t0022g0247 |
3 | 215 | 0.0140 | 637 | c.258 others(654): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| KIF1A_chr2_240708767_240825219 | 240786775 | A | AGGACCCC others(630): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0204 | 1 | 241 | 0.0041 | 637 | c.430 others(652): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124507256 | G | GGGGGGTA others(630): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 198 | 0.0051 | 637 | c.624 others(654): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LOC114841035_chr11_64236095_64249132 | 64237092 | A | AGGGAGAG others(630): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 321 | 0.0031 | 637 | c.-41 others(648): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 4002 | chr11 | TogoVar | |||||||
| LUC7L_chr16_183990_234449 | 186510 | G | GGAGGAAC others(630): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 301 | 0.0033 | 637 | c.*26 others(648): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2479 | chr16 | TogoVar | |||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(630): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0041 | a0002c0041t0010 | a0002c0041t0010g0062 | 1 | 8 | 0.1250 | 637 | c.115 others(654): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(630): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0049 | a0001c0049t0010 | a0001c0049t0010g0067 | 1 | 8 | 0.1250 | 637 | c.115 others(654): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(630): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 261 | 0.0038 | 637 | c.91+ others(650): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NOL4L_chr20_32438059_32590333 | 32563163 | G | GGGTGGAG others(630): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01891.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0036 a0001c0001t0001g0179 a0001c0001t0001g0182 others(7): Show |
10 | 182 | 0.0549 | 637 | c.321 others(656): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
| NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(630): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01175.hp1 others(1): Show |
a0002a0021 | a0002c0002a0021c0021 | a0002c0002t0001a0021c0021t0001 | a0002c0002t0001g0048 a0002c0002t0001g0273 a0021c0021t0001g0274 |
4 | 279 | 0.0143 | 637 | c.195 others(654): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
| NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(630): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 a0001c0002t0001g0064 |
2 | 39 | 0.0513 | 637 | c.342 others(656): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
| OPHN1_chrX_68037344_68438495 | 68326722 | A | AGGGAGGT others(630): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 59 | 0.0169 | 637 | c.155 others(656): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
| OR2AJ1_chr1_247919889_247940339 | 247937455 | C | CCTCCTCC others(630): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02615.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0002g0020 a0001c0001t0002g0039 others(2): Show |
7 | 71 | 0.0986 | 637 | c.*27 others(648): Show |
OR2AJ1 | ENSG00000177275.4 | transcript | ENST00000318244.4 | protein_coding | 2117 | chr1 | TogoVar | |||||||
| PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(630): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0057a0001c0002t0063 | a0001c0001t0057g0119 a0001c0002t0063g0019 |
2 | 238 | 0.0084 | 637 | c.274 others(654): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(630): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0005 | a0001c0005t0001g0190 a0001c0005t0005g0131 |
2 | 238 | 0.0084 | 637 | c.274 others(654): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PCSK5_chr9_75885673_76367975 | 76063865 | G | GTGGCCGG others(630): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0043 | a0043c0052 | a0043c0052t0049 | a0043c0052t0049g0129 | 1 | 81 | 0.0123 | 637 | c.633 others(654): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(630): Show |
intron_variant | MODIFIER | NA18948.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0080 a0001c0001t0010g0082 |
2 | 162 | 0.0123 | 637 | c.537 others(654): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
| PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(630): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01257.hp2 HG01258.hp1 others(25): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(23): Show |
28 | 188 | 0.1489 | 637 | c.537 others(654): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
| PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(630): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 161 | 0.0062 | 637 | c.537 others(654): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
| PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(630): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 1 | 161 | 0.0062 | 637 | c.537 others(654): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
| PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(630): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 161 | 0.0062 | 637 | c.537 others(654): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
| PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(630): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18983.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0105 |
3 | 163 | 0.0184 | 637 | c.537 others(654): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar |