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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKHD1_chr6_51610299_52092613 | 51801654 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02040.hp1 HG02257.hp2 others(16): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0009a0001c0035others(10): Show | a0001c0001t0001a0001c0009t0001a0001c0035t0001others(10): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0058 others(16): Show |
19 | 134 | 0.1418 | 26 | c.830 others(47): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 52065168 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0129 | 1 | 134 | 0.0075 | 26 | c.881 others(41): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 12/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 52065184 | G | GAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0032 | a0032c0083 | a0032c0083t0006 | a0032c0083t0006g0087 | 1 | 134 | 0.0075 | 26 | c.881 others(41): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 12/66 | chr6 | TogoVar | |||||||
PKIA_chr8_78511340_78610267 | 78602694 | A | AATATATA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02647.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0009g0018 a0001c0001t0009g0127 a0001c0001t0020g0165 others(2): Show |
5 | 186 | 0.0269 | 26 | c.*89 others(35): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 4/4 | 894 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKIG_chr20_44577579_44624037 | 44610500 | T | TCACACAC others(19): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 300 | 0.0033 | 26 | c.-23 others(43): Show |
PKIG | ENSG00000168734.14 | transcript | ENST00000372886.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PKN1_chr19_14428306_14476859 | 14474774 | T | TTTTCTCA others(19): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0286 | 1 | 376 | 0.0027 | 26 | c.*29 others(37): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 2916 | chr19 | TogoVar | |||||||
PKN2_chr1_88679273_88841255 | 88820180 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0181 | 1 | 330 | 0.0030 | 26 | c.228 others(45): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKN3_chr9_128697503_128725916 | 128717117 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 360 | 0.0028 | 26 | c.198 others(43): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42987404 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0270 | 1 | 362 | 0.0028 | 26 | c.-57 others(45): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42987404 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA21309.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0100 a0001c0001t0007g0006 |
2 | 362 | 0.0055 | 26 | c.-57 others(45): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42987404 | A | AAAATATA others(19): Show |
intron_variant | MODIFIER | HG01516.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0283 a0001c0001t0008g0284 |
2 | 362 | 0.0055 | 26 | c.-57 others(45): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42987404 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02080.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0038 a0001c0001t0008g0282 |
2 | 362 | 0.0055 | 26 | c.-57 others(45): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42995529 | T | TTAGCCAG others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG01070.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015 | a0001c0001t0008g0268 a0001c0001t0008g0269 a0001c0001t0008g0271 others(14): Show |
17 | 362 | 0.0470 | 26 | c.-56 others(43): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125189417 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02735.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0138 a0001c0001t0001g0167 a0001c0001t0003g0028 others(3): Show |
6 | 222 | 0.0270 | 26 | c.-20 others(47): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125359080 | C | CAAAGGCA others(19): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02258.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0182 a0001c0001t0003g0087 a0001c0001t0003g0222 others(7): Show |
10 | 222 | 0.0451 | 26 | c.87+ others(41): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125359080 | C | CAAAGGCA others(19): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0074 | 1 | 222 | 0.0045 | 26 | c.87+ others(41): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125359095 | A | AGACACCA others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01361.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0130 others(14): Show |
17 | 222 | 0.0766 | 26 | c.87+ others(41): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32806681 | A | AGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0083 a0001c0001t0014g0014 |
2 | 342 | 0.0059 | 26 | c.201 others(45): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32806686 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02056.hp2 HG02083.hp2 others(6): Show |
a0001a0016 | a0001c0001a0016c0019 | a0001c0001t0002a0001c0001t0008a0016c0019t0002 | a0001c0001t0002g0001 a0001c0001t0002g0101 a0001c0001t0002g0116 others(5): Show |
9 | 342 | 0.0263 | 26 | c.201 others(45): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32846745 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01167.hp1 HG01169.hp2 others(5): Show |
a0002a0011 | a0002c0002a0011c0012 | a0002c0002t0001a0002c0002t0006a0011c0012t0006 | a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0221 others(5): Show |
8 | 342 | 0.0234 | 26 | c.137 others(45): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32865681 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0180 |
2 | 342 | 0.0059 | 26 | c.117 others(45): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402658 | C | CCGCCCCG others(19): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0152 | 1 | 216 | 0.0046 | 26 | c.173 others(43): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PKP4_chr2_158451952_158686429 | 158566479 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18994.hp1 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0122 |
3 | 308 | 0.0097 | 26 | c.133 others(45): Show |
PKP4 | ENSG00000144283.23 | transcript | ENST00000389759.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLA2G4A_chr1_186823949_186993981 | 186830608 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 310 | 0.0032 | 26 | c.-70 others(43): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLA2G4A_chr1_186823949_186993981 | 186912720 | A | ATATATAC others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 others(5): Show |
8 | 310 | 0.0258 | 26 | c.558 others(43): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLA2G4A_chr1_186823949_186993981 | 186934443 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03490.hp1 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0172 a0001c0001t0001g0265 others(1): Show |
4 | 310 | 0.0129 | 26 | c.695 others(43): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48057480 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0033 | a0033c0065 | a0033c0065t0023 | a0033c0065t0023g0215 | 1 | 322 | 0.0031 | 26 | c.125 others(45): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 14/16 | chr19 | TogoVar | |||||||
PLA2R1_chr2_159927006_160067615 | 159935945 | A | ATTTTTTT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01934.hp1 HG02080.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0037a0001c0001t0121a0001c0003t0037 | a0001c0001t0037g0204 a0001c0001t0121g0247 a0001c0003t0037g0169 |
3 | 326 | 0.0092 | 26 | c.*58 others(37): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 30/30 | 5832 | chr2 | TogoVar | ||||||
PLAAT3_chr11_63569462_63619433 | 63619037 | C | CAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 a0001c0001t0003g0211 |
2 | 352 | 0.0057 | 26 | c.-47 others(37): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 4605 | chr11 | TogoVar | |||||||
PLAGL1_chr6_143935300_144013259 | 143943031 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 394 | 0.0025 | 26 | c.153 others(41): Show |
PLAGL1 | ENSG00000118495.21 | transcript | ENST00000674357.1 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
PLAGL1_chr6_143935300_144013259 | 143985982 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18747.hp1 NA18940.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0152 a0001c0001t0003g0022 a0001c0001t0003g0041 others(2): Show |
5 | 394 | 0.0127 | 26 | c.-58 others(43): Show |
PLAGL1 | ENSG00000118495.21 | transcript | ENST00000674357.1 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42194241 | A | AGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0330 a0001c0002t0003g0334 |
2 | 378 | 0.0053 | 26 | c.-26 others(43): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 378 | 0.0027 | 26 | c.-27 others(43): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
PLAUR_chr19_43643579_43675169 | 43645481 | C | CTGTGTGT others(19): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0161 | 1 | 442 | 0.0023 | 26 | c.*34 others(37): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 3097 | chr19 | TogoVar | |||||||
PLB1_chr2_28491060_28649142 | 28510778 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02717.hp2 |
a0004a0017a0018 | a0004c0009a0017c0023a0018c0066 | a0004c0009t0004a0017c0023t0003a0018c0066t0007 | a0004c0009t0004g0111 a0017c0023t0003g0011 a0018c0066t0007g0010 |
3 | 266 | 0.0113 | 26 | c.56- others(41): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 1/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLB1_chr2_28491060_28649142 | 28554489 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18522.hp1 |
a0002a0044 | a0002c0001a0044c0045 | a0002c0001t0002a0044c0045t0003 | a0002c0001t0002g0008 a0044c0045t0003g0009 |
2 | 266 | 0.0075 | 26 | c.114 others(45): Show |
PLB1 | ENSG00000163803.13 | transcript | ENST00000327757.10 | protein_coding | 17/57 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8523490 | C | CCATATAT others(19): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02970.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 a0001c0003t0001g0029 |
2 | 106 | 0.0189 | 26 | c.247 others(47): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | chr20 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8523496 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0082 | 1 | 106 | 0.0094 | 26 | c.247 others(47): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8523496 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 106 | 0.0094 | 26 | c.247 others(47): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8523496 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 106 | 0.0094 | 26 | c.247 others(47): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8523496 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0052 | 1 | 106 | 0.0094 | 26 | c.247 others(47): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8541608 | G | GAAAGAAA others(19): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0045 | 1 | 106 | 0.0094 | 26 | c.247 others(45): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | chr20 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8676434 | G | GAAAGAAA others(19): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 |
a0001 | a0001c0005a0001c0016 | a0001c0005t0005a0001c0016t0001 | a0001c0005t0005g0093 a0001c0016t0001g0036 |
2 | 106 | 0.0189 | 26 | c.863 others(43): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8681086 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0052 | 1 | 106 | 0.0094 | 26 | c.863 others(43): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8744616 | T | TAAATAAA others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01109.hp2 others(1): Show |
a0001a0003a0005 | a0001c0004a0003c0015a0005c0017 | a0001c0004t0002a0001c0004t0019a0003c0015t0008others(1): Show | a0001c0004t0002g0073 a0001c0004t0019g0052 a0003c0015t0008g0002 others(1): Show |
4 | 106 | 0.0377 | 26 | c.252 others(45): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 23/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCD1_chr3_38002496_38034642 | 38007400 | G | GACACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 |
2 | 362 | 0.0055 | 26 | c.*37 others(35): Show |
PLCD1 | ENSG00000187091.14 | transcript | ENST00000334661.5 | protein_coding | 95 | chr3 | TogoVar | |||||||
PLCD1_chr3_38002496_38034642 | 38033976 | T | TACACACA others(19): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01975.hp1 HG02056.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0007 a0001c0003t0002g0003 a0002c0002t0001g0006 others(1): Show |
4 | 362 | 0.0111 | 26 | c.-44 others(37): Show |
PLCD1 | ENSG00000187091.14 | transcript | ENST00000334661.5 | protein_coding | 4335 | chr3 | TogoVar | |||||||
PLCD4_chr2_218602899_218642175 | 218616898 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18960.hp1 NA20905.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0002 | a0001c0001t0002g0059 a0001c0001t0003g0272 a0001c0003t0002g0291 |
3 | 298 | 0.0101 | 26 | c.181 others(41): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCD4_chr2_218602899_218642175 | 218616927 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 | 1 | 298 | 0.0034 | 26 | c.181 others(41): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLCD4_chr2_218602899_218642175 | 218616927 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01099.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0261 a0001c0002t0001g0146 |
2 | 298 | 0.0067 | 26 | c.181 others(41): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |