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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE5A_chr4_119489403_119633804 | 119592456 | T | TAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01167.hp2 others(39): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0002a0001c0002t0004a0001c0002t0024others(3): Show | a0001c0002t0002g0002 a0001c0002t0002g0027 a0001c0002t0002g0033 others(38): Show |
42 | 97 | 0.4330 | 7 | c.831 others(24): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149920942 | A | AAAGAAAG | intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0012 | a0001c0001t0031a0002c0003t0020a0002c0003t0037others(1): Show | a0001c0001t0031g0134 a0002c0003t0020g0214 a0002c0003t0020g0219 others(2): Show |
5 | 147 | 0.0340 | 7 | c.933 others(22): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 5/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149947611 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01257.hp1 HG02132.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0042 a0001c0001t0002g0038 a0001c0001t0003g0006 others(5): Show |
8 | 203 | 0.0394 | 7 | c.-29 others(18): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 2819 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 669113 | C | CTATTTAT | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0053 a0001c0009t0009g0248 a0001c0009t0009g0249 |
3 | 301 | 0.0100 | 7 | c.250 others(24): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6C_chr10_93607537_93671010 | 93611339 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0030a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(63): Show |
67 | 224 | 0.2991 | 7 | c.-13 others(18): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 1197 | chr10 | TogoVar | |||||||
PDE6C_chr10_93607537_93671010 | 93627258 | C | CAAGAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00733.hp2 others(18): Show |
a0002a0005 | a0002c0003a0002c0009a0005c0012 | a0002c0003t0001a0002c0009t0001a0005c0012t0001others(1): Show | a0002c0003t0001g0009 a0002c0003t0001g0153 a0002c0003t0001g0159 others(18): Show |
21 | 183 | 0.1148 | 7 | c.107 others(24): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDE6C_chr10_93607537_93671010 | 93636368 | T | TGTGTGTG | intron_variant | MODIFIER | HG01517.hp1 HG03688.hp2 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0322 |
3 | 27 | 0.1111 | 7 | c.141 others(24): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 10/21 | chr10 | TogoVar | |||||||
PDE6C_chr10_93607537_93671010 | 93654811 | T | TTTCTTTC | intron_variant | MODIFIER | HG02155.hp1 HG02602.hp2 HG02717.hp2 others(5): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0031 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0112 others(5): Show |
8 | 365 | 0.0219 | 7 | c.193 others(24): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65730171 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0025others(2): Show | a0001c0001t0010g0035 a0001c0001t0010g0036 a0001c0001t0011g0044 others(4): Show |
7 | 34 | 0.2059 | 7 | c.697 others(24): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 7/12 | chr8 | TogoVar | |||||||
PDE7B_chr6_135846701_136200574 | 135871847 | G | GTAACTAT | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG01109.hp1 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0031 others(26): Show |
29 | 140 | 0.2071 | 7 | c.21+ others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135935109 | A | ATATATAT | intron_variant | MODIFIER | HG01081.hp2 HG01261.hp1 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0012g0137 |
3 | 134 | 0.0224 | 7 | c.22- others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135935127 | T | TTTTTATA | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0098 others(3): Show |
6 | 136 | 0.0441 | 7 | c.22- others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
PDE7B_chr6_135846701_136200574 | 135995578 | T | TTATTCCC | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0067 a0001c0001t0001g0072 others(13): Show |
16 | 140 | 0.1143 | 7 | c.82+ others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 136191013 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0036 | a0001c0001t0002g0023 a0001c0001t0002g0091 a0001c0001t0002g0092 others(2): Show |
5 | 85 | 0.0588 | 7 | c.112 others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 136195647 | C | CCACTGCT | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02615.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0033others(16): Show | a0001c0001t0006g0116 a0001c0001t0015g0018 a0001c0001t0015g0093 others(20): Show |
23 | 140 | 0.1643 | 7 | c.*38 others(18): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 74 | chr6 | TogoVar | |||||||
PDE8A_chr15_84976856_85144142 | 85065332 | T | TGGGGAGG | intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 others(5): Show |
8 | 342 | 0.0234 | 7 | c.243 others(22): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85095875 | T | TATATATA | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01175.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 others(4): Show |
7 | 215 | 0.0326 | 7 | c.853 others(24): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
PDE8A_chr15_84976856_85144142 | 85140288 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01433.hp1 others(6): Show |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0080 others(6): Show |
9 | 88 | 0.1023 | 7 | c.*23 others(18): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1147 | chr15 | TogoVar | |||||||
PDE8B_chr5_77205680_77433256 | 77397026 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG02647.hp2 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010 | a0001c0001t0001g0033 a0001c0001t0001g0311 a0001c0001t0008g0191 others(3): Show |
6 | 71 | 0.0845 | 7 | c.116 others(26): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42653528 | A | AGGGAGGG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0100 a0001c0001t0002g0003 a0001c0001t0002g0009 others(52): Show |
56 | 313 | 0.1789 | 7 | c.-28 others(16): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 92 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42653531 | G | GAGGGGGA | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0137 a0001c0001t0001g0228 others(12): Show |
15 | 320 | 0.0469 | 7 | c.-28 others(16): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 89 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42654068 | C | CTGGGGGG | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01255.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0002t0001g0310 others(7): Show |
10 | 322 | 0.0311 | 7 | c.69+ others(20): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42668898 | A | ACCCCCCC | intron_variant | MODIFIER | HG01243.hp1 HG01516.hp1 HG01884.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0168 a0001c0001t0001g0207 a0001c0001t0001g0233 others(11): Show |
14 | 188 | 0.0745 | 7 | c.69+ others(24): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42670230 | T | TCACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01123.hp2 others(9): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 others(9): Show |
12 | 322 | 0.0373 | 7 | c.70- others(24): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | chr21 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 499720 | T | TCCCCCCC | intron_variant | MODIFIER | HG00609.hp1 HG01081.hp2 HG01175.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0205 a0001c0001t0001g0230 others(12): Show |
16 | 123 | 0.1301 | 7 | c.581 others(24): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156804097 | T | TAAAGAGA | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp2 others(102): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0120 a0001c0001t0001g0174 a0001c0001t0002g0005 others(102): Show |
105 | 206 | 0.5097 | 7 | c.495 others(24): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156850829 | T | TAAAAATA | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00639.hp2 others(132): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0072 a0001c0001t0001g0110 a0001c0001t0001g0111 others(132): Show |
135 | 206 | 0.6553 | 7 | c.119 others(22): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156903125 | G | GTGTGTGT | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01109.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(4): Show | a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0079 others(20): Show |
23 | 189 | 0.1217 | 7 | c.119 others(26): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156903132 | T | TTGTGTGC | intron_variant | MODIFIER | HG02155.hp2 NA18961.hp1 NA18964.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0006 | a0001c0002t0002g0061 a0001c0002t0002g0080 a0001c0002t0002g0167 others(4): Show |
7 | 206 | 0.0340 | 7 | c.119 others(26): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119362 | G | GATATAAT | intron_variant | MODIFIER | HG00741.hp1 HG03654.hp1 NA18985.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0056 a0001c0001t0002g0102 a0001c0002t0001g0080 |
3 | 175 | 0.0171 | 7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119404 | A | AATATAAT | intron_variant | MODIFIER | HG01081.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0127 a0001c0002t0001g0126 |
2 | 190 | 0.0105 | 7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119514 | T | TGATATAA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0109 a0001c0001t0003g0112 a0001c0002t0001g0106 others(3): Show |
6 | 188 | 0.0319 | 7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104130000 | G | GAAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0109 a0001c0001t0003g0112 a0001c0002t0001g0106 others(3): Show |
6 | 98 | 0.0612 | 7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104144536 | A | AAAAACCC | intron_variant | MODIFIER | HG02145.hp2 HG06807.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0112 a0001c0002t0005g0108 a0001c0002t0005g0188 |
3 | 178 | 0.0169 | 7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFRB_chr5_150108839_150160845 | 150127833 | T | TAAAAAAA | intron_variant | MODIFIER | HG02293.hp2 HG02630.hp1 HG03831.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0011a0001c0002t0004a0001c0002t0010others(3): Show | a0001c0001t0011g0316 a0001c0002t0004g0326 a0001c0002t0010g0304 others(3): Show |
6 | 71 | 0.0845 | 7 | c.158 others(26): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 10/22 | chr5 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17590236 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0315 others(3): Show |
6 | 30 | 0.2000 | 7 | c.353 others(22): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17590888 | A | ATTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 others(9): Show |
12 | 96 | 0.1250 | 7 | c.353 others(24): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDHA1_chrX_19338927_19366718 | 19364893 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01123.hp2 others(19): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0002g0019 a0001c0002t0003g0007 a0001c0002t0003g0020 others(13): Show |
22 | 180 | 0.1222 | 7 | c.*52 others(18): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 3176 | chrX | TogoVar | |||||||
PDIA5_chr3_123062025_123167104 | 123101906 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(171): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(166): Show |
174 | 240 | 0.7250 | 7 | c.258 others(22): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10788065 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp1 others(94): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0005a0002c0002others(5): Show | a0001c0003t0001a0001c0005t0003a0002c0002t0001others(7): Show | a0001c0003t0001g0190 a0001c0003t0001g0216 a0001c0005t0003g0012 others(91): Show |
97 | 294 | 0.3299 | 7 | c.998 others(22): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10809645 | C | CAAAAAAA | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0029 a0001c0001t0005g0014 a0001c0001t0005g0027 others(3): Show |
7 | 98 | 0.0714 | 7 | c.19+ others(22): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDILT_chr16_20354175_20409737 | 20361205 | T | TTTTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(84): Show |
a0001a0002a0003others(6): Show | a0001c0007a0002c0004a0003c0002others(6): Show | a0001c0007t0001a0002c0004t0001a0003c0002t0001others(6): Show | a0001c0007t0001g0003 a0001c0007t0001g0011 a0001c0007t0001g0012 others(79): Show |
87 | 336 | 0.2589 | 7 | c.141 others(24): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 10/11 | chr16 | TogoVar | |||||||
PDK1_chr2_172551090_172613669 | 172605368 | A | ATTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG00741.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0091a0001c0001t0097a0001c0002t0013others(5): Show | a0001c0001t0091g0060 a0001c0001t0097g0274 a0001c0002t0013g0036 others(15): Show |
18 | 202 | 0.0891 | 7 | c.*94 others(18): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 11/11 | 9424 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PDK4_chr7_95578499_95601516 | 95586194 | G | GTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0033others(1): Show | a0001c0001t0005g0044 a0001c0001t0005g0112 a0001c0001t0014g0127 others(2): Show |
6 | 13 | 0.4615 | 7 | c.109 others(24): Show |
PDK4 | ENSG00000004799.8 | transcript | ENST00000005178.6 | protein_coding | 10/10 | chr7 | TogoVar | |||||||
PDLIM2_chr8_22575475_22599298 | 22599209 | C | CCTCCCCT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(90): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(9): Show | a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0159 others(73): Show |
93 | 378 | 0.2460 | 7 | c.*52 others(18): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 4912 | chr8 | TogoVar | |||||||
PDLIM3_chr4_185495660_185540507 | 185497978 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00738.hp2 others(21): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0007a0004c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0022 others(14): Show |
24 | 47 | 0.5106 | 7 | c.*43 others(18): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 2681 | chr4 | TogoVar | |||||||
PDLIM3_chr4_185495660_185540507 | 185522045 | A | ATTACATT | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02572.hp1 others(2): Show |
a0002a0005 | a0002c0003a0005c0009 | a0002c0003t0002a0005c0009t0002 | a0002c0003t0002g0015 a0002c0003t0002g0085 a0005c0009t0002g0084 |
5 | 410 | 0.0122 | 7 | c.330 others(24): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 3/7 | chr4 | TogoVar | |||||||
PDLIM5_chr4_94446942_94673223 | 94449503 | C | CTAAATTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(136): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(41): Show | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 others(136): Show |
139 | 216 | 0.6435 | 7 | c.-25 others(18): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 2438 | chr4 | TogoVar | |||||||
PDLIM7_chr5_177478394_177502604 | 177480969 | T | TATATATA | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02895.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0196 a0001c0001t0001g0266 |
4 | 239 | 0.0167 | 7 | c.*26 others(18): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 2424 | chr5 | TogoVar | |||||||
PDP1_chr8_93911923_93931068 | 93917590 | G | GGGCTGGC | intron_variant | MODIFIER | NA18972.hp1 NA18982.hp1 NA18989.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0008 a0001c0001t0018g0008 |
6 | 388 | 0.0155 | 7 | c.-45 others(22): Show |
PDP1 | ENSG00000164951.16 | transcript | ENST00000297598.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |