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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFB_chr22_39218359_39249982 | 39247879 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01884.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0110 a0001c0001t0002g0246 others(1): Show |
5 | 386 | 0.0130 | -18 | c.-39 others(29): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2898 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247881 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01952.hp1 HG01952.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0015 | a0001c0001t0001g0002 a0001c0001t0001g0112 a0001c0001t0001g0163 others(2): Show |
5 | 386 | 0.0130 | -18 | c.-39 others(29): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2900 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247883 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0082 a0001c0001t0004g0084 |
2 | 386 | 0.0052 | -18 | c.-39 others(29): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2902 | chr22 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156824285 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01192.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(4): Show | a0001c0001t0002g0087 a0001c0002t0002g0028 a0001c0002t0002g0037 others(14): Show |
17 | 208 | 0.0817 | -18 | c.315 others(37): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156824321 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0170 | 1 | 208 | 0.0048 | -18 | c.315 others(37): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156825581 | TAATAATA others(11): Show |
T | intron_variant | MODIFIER | NA18955.hp2 NA18985.hp2 NA19012.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 others(2): Show |
5 | 208 | 0.0240 | -18 | c.315 others(37): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156825587 | TAATAATA others(11): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0086 | 1 | 208 | 0.0048 | -18 | c.315 others(37): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156825593 | TAAGAAGA others(11): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0183 | 1 | 208 | 0.0048 | -18 | c.315 others(37): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156826174 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG02080.hp1 HG02572.hp2 HG02970.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0120 a0001c0001t0002g0155 a0001c0001t0003g0190 others(16): Show |
19 | 208 | 0.0914 | -18 | c.315 others(37): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156854580 | TTTTATGT others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0018 | a0001c0002t0012g0180 a0001c0002t0018g0002 |
2 | 208 | 0.0096 | -18 | c.119 others(35): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156891279 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02486.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0174 a0001c0001t0004g0093 a0001c0001t0005g0175 others(8): Show |
11 | 208 | 0.0529 | -18 | c.119 others(37): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156945342 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp1 HG02970.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(1): Show | a0001c0001t0002g0067 a0001c0002t0002g0007 a0001c0002t0002g0028 others(7): Show |
10 | 208 | 0.0481 | -18 | c.118 others(37): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156974933 | AATATATA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 208 | 0.0048 | -18 | c.-40 others(29): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3135 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103955163 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01255.hp2 HG01978.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0002g0060 a0001c0001t0002g0143 a0001c0001t0003g0018 others(20): Show |
23 | 200 | 0.1150 | -18 | c.511 others(35): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104126886 | CAGAGTAA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG01256.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0002g0093 a0001c0001t0002g0104 a0001c0001t0002g0109 others(29): Show |
32 | 200 | 0.1600 | -18 | c.124 others(37): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFRA_chr4_54224293_54303245 | 54284553 | TGAGAGAG others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0203 a0001c0001t0001g0241 a0001c0001t0001g0262 others(10): Show |
14 | 300 | 0.0467 | -18 | c.232 others(35): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDGFRB_chr5_150108839_150160845 | 150140714 | TCAAAAGG others(11): Show |
T | intron_variant | MODIFIER | NA18982.hp1 | a0017 | a0017c0036 | a0017c0036t0001 | a0017c0036t0001g0230 | 1 | 418 | 0.0024 | -18 | c.-6- others(33): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17622404 | GTAGACCT others(11): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(148): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(147): Show |
151 | 400 | 0.3775 | -18 | c.505 others(35): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17638738 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02004.hp2 HG02451.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0046 others(8): Show |
11 | 400 | 0.0275 | -18 | c.940 others(35): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 282903 | TCCCCTGC others(11): Show |
T | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0036 | a0002c0036t0001 | a0002c0036t0001g0070 | 1 | 436 | 0.0023 | -18 | c.-26 others(27): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 260 | chr16 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10815085 | GGGAAATG others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(182): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0003t0001others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(164): Show |
185 | 342 | 0.5409 | -18 | c.-24 others(29): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 2301 | chr2 | TogoVar | |||||||
PDK3_chrX_24460286_24539422 | 24518837 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 |
3 | 258 | 0.0116 | -18 | c.596 others(31): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PDK4_chr7_95578499_95601516 | 95580039 | TTATATAT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG02622.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0010a0001c0002t0002others(3): Show | a0001c0001t0004g0005 a0001c0001t0010g0034 a0001c0002t0002g0001 others(6): Show |
14 | 384 | 0.0365 | -18 | c.*55 others(29): Show |
PDK4 | ENSG00000004799.8 | transcript | ENST00000005178.6 | protein_coding | 3459 | chr7 | TogoVar | |||||||
PDLIM3_chr4_185495660_185540507 | 185530971 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0020 | a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 others(4): Show |
7 | 412 | 0.0170 | -18 | c.93+ others(33): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
PDLIM4_chr5_132252696_132278454 | 132256709 | AGGTGTCT others(11): Show |
A | upstream_gene_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0014 | 1 | 410 | 0.0024 | -18 | c.-10 others(29): Show |
PDLIM4 | ENSG00000131435.13 | transcript | ENST00000253754.8 | protein_coding | 986 | chr5 | TogoVar | |||||||
PDLIM5_chr4_94446942_94673223 | 94530510 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(34): Show |
a0001a0002 | a0001c0002a0001c0009a0002c0003 | a0001c0002t0002a0001c0002t0005a0001c0002t0008others(8): Show | a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0051 others(34): Show |
37 | 218 | 0.1697 | -18 | c.248 others(35): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94543778 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG02055.hp1 HG02145.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0003 | a0001c0002t0002g0127 a0001c0002t0002g0212 a0002c0003t0003g0132 |
3 | 218 | 0.0138 | -18 | c.248 others(37): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94655244 | GTACATAA others(11): Show |
G | intron_variant | MODIFIER | HG01243.hp2 NA18906.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005 a0001c0001t0014g0177 a0001c0001t0014g0178 |
3 | 218 | 0.0138 | -18 | c.146 others(35): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177486931 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0310 a0001c0002t0001g0304 a0001c0002t0001g0305 |
3 | 440 | 0.0068 | -18 | c.105 others(37): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
PDP2_chr16_66875515_66896101 | 66893537 | ATATATAT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 | 2 | 356 | 0.0056 | -18 | c.*76 others(29): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2437 | chr16 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39817880 | CTATATAT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01074.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0030 a0001c0001t0002g0185 a0001c0001t0002g0186 others(18): Show |
21 | 356 | 0.0590 | -18 | c.*75 others(29): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 4982 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39929519 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0002a0004c0012t0006 | a0001c0001t0002g0290 a0004c0012t0006g0236 |
2 | 356 | 0.0056 | -18 | c.139 others(35): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39943123 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0285 a0001c0002t0004g0327 a0001c0002t0004g0347 |
3 | 356 | 0.0084 | -18 | c.139 others(37): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39982240 | TATATATA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02717.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0291 |
3 | 356 | 0.0084 | -18 | c.-48 others(29): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 4330 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG02698.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(2): Show | a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0006g0143 others(6): Show |
9 | 334 | 0.0270 | -18 | c.-19 others(37): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32741699 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 334 | 0.0030 | -18 | c.247 others(35): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDSS1_chr10_26692701_26751798 | 26717990 | ACTCACCT others(11): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 416 | 0.0024 | -18 | c.468 others(35): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107225151 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 260 | 0.0039 | -18 | c.703 others(37): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107273777 | GATTTAAC others(11): Show |
G | intron_variant | MODIFIER | HG01433.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0189 |
2 | 260 | 0.0077 | -18 | c.630 others(33): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107336825 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0167 a0001c0001t0001g0209 a0001c0001t0001g0248 others(10): Show |
13 | 260 | 0.0500 | -18 | c.297 others(35): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDXDC1_chr16_14970026_15043332 | 14991267 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02080.hp2 HG02135.hp2 others(7): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0003a0002c0004t0005 | a0002c0002t0001g0031 a0002c0002t0001g0040 a0002c0002t0001g0043 others(6): Show |
10 | 279 | 0.0358 | -18 | c.22- others(33): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDXP_chr22_37653723_37671932 | 37661917 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG02257.hp1 HG02622.hp1 others(11): Show |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0080 a0001c0001t0002g0015 a0001c0001t0002g0104 others(5): Show |
14 | 418 | 0.0335 | -18 | c.574 others(35): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31682671 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(88): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0001g0086 others(88): Show |
91 | 216 | 0.4213 | -18 | c.-36 others(39): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31760211 | GAGCATCT others(11): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01358.hp1 HG01358.hp2 others(9): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0009others(7): Show | a0001c0001t0001g0066 a0001c0001t0001g0096 a0001c0001t0001g0194 others(9): Show |
12 | 216 | 0.0556 | -18 | c.-36 others(39): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31772722 | CAGTGCTG others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01243.hp2 others(11): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0007a0002c0002others(8): Show | a0001c0001t0001a0001c0007t0009a0002c0002t0002others(9): Show | a0001c0001t0001g0180 a0001c0007t0009g0058 a0002c0002t0002g0144 others(11): Show |
14 | 216 | 0.0648 | -18 | c.-36 others(39): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31840396 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG02135.hp2 HG03225.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0011others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0011t0002others(2): Show | a0001c0001t0001g0162 a0002c0002t0001g0120 a0002c0011t0002g0085 others(2): Show |
5 | 216 | 0.0232 | -18 | c.476 others(37): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31856433 | AGGGAAAG others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01071.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0035a0001c0001t0037others(4): Show | a0001c0001t0001g0097 a0001c0001t0001g0151 a0001c0001t0001g0152 others(8): Show |
11 | 216 | 0.0509 | -18 | c.476 others(37): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31881326 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03471.hp1 others(2): Show |
a0002a0004a0027 | a0002c0002a0002c0003a0004c0006others(1): Show | a0002c0002t0005a0002c0003t0002a0004c0006t0010others(1): Show | a0002c0002t0005g0004 a0002c0003t0002g0192 a0002c0003t0002g0197 others(2): Show |
5 | 216 | 0.0232 | -18 | c.476 others(37): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31960169 | TCTTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp1 HG01884.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0017a0001c0035others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0001g0045 a0001c0001t0008g0181 a0001c0001t0010g0040 others(10): Show |
13 | 216 | 0.0602 | -18 | c.477 others(37): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32000479 | GTTTGTTT others(11): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00673.hp1 others(51): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0059 others(51): Show |
54 | 216 | 0.2500 | -18 | c.125 others(35): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |