regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDH17_chr13_57626744_57734311 | 57631803 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0211 | 1 | 310 | 0.0032 | 0 | c.-74 others(4): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100409558 | A | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp1 HG02622.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0025 | a0001c0001t0015g0004a0001c0001t0015g0005a0001c0001t0025g0003 | 3 | 281 | 0.0107 | 0 | c.-96 others(4): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 1/6 | chrX | TogoVar | ||||||
PCDH20_chr13_61404685_61420849 | 61415407 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(154): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0017others(16): Show | 157 | 458 | 0.3428 | 0 | c.-24 others(4): Show |
PCDH20 | ENSG00000280165.2 | transcript | ENST00000409204.5 | protein_coding | 1/2 | chr13 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30721267 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02280.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0044 | a0001c0001t0043g0009a0001c0001t0044g0010 | 2 | 214 | 0.0094 | 0 | c.-15 others(4): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
PCDHA12_chr5_140870308_141017347 | 140875345 | A | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp1 HG02055.hp2 |
a0012a0013 | a0012c0024a0013c0026 | a0012c0024t0018a0013c0026t0017 | a0012c0024t0018g0100a0013c0026t0017g0113 | 2 | 260 | 0.0077 | 0 | c.-12 others(4): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHA12_chr5_140870308_141017347 | 140875399 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01346.hp2 | a0009 | a0009c0016 | a0009c0016t0016 | a0009c0016t0016g0168 | 1 | 260 | 0.0039 | 0 | c.-74 others(3): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHA4_chr5_140802068_141017347 | 140807072 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp1 HG00423.hp2 HG00621.hp1 others(120): Show |
a0002a0003a0004others(7): Show | a0002c0002a0003c0003a0003c0007others(10): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0011others(23): Show | a0002c0002t0001g0020a0002c0002t0001g0025a0002c0002t0001g0028others(120): Show | 123 | 212 | 0.5802 | 0 | c.-11 others(4): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140848387 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18906.hp1 NA19030.hp1 NA19240.hp2 |
a0012 | a0012c0012 | a0012c0012t0010 | a0012c0012t0010g0228a0012c0012t0010g0229a0012c0012t0010g0238 | 3 | 256 | 0.0117 | 0 | c.-10 others(4): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140926538 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(248): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0003a0001c0004others(21): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(43): Show | a0001c0002t0001g0109a0001c0002t0001g0110a0001c0002t0001g0111others(248): Show | 251 | 280 | 0.8964 | 0 | c.-35 others(4): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHAC2_chr5_140961476_141017347 | 140966638 | T | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02896.hp2 HG02897.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0007a0001c0005t0014 | a0001c0005t0007g0036a0001c0005t0007g0037a0001c0005t0007g0038others(2): Show | 5 | 324 | 0.0154 | 0 | c.-12 others(4): Show |
PCDHAC2 | ENSG00000243232.6 | transcript | ENST00000289269.7 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHB9_chr5_141182161_141196541 | 141187301 | T | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01243.hp1 | a0003 | a0003c0003 | a0003c0003t0038 | a0003c0003t0038g0000 | 1 | 458 | 0.0022 | 0 | c.-18 others(3): Show |
PCDHB9 | ENSG00000177839.7 | transcript | ENST00000316105.7 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
PCDHGA12_chr5_141425507_141517975 | 141430744 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp2 HG03225.hp1 |
a0005 | a0005c0008 | a0005c0008t0010 | a0005c0008t0010g0011a0005c0008t0010g0030 | 2 | 318 | 0.0063 | 0 | c.-16 others(3): Show |
PCDHGA12 | ENSG00000253159.3 | transcript | ENST00000252085.4 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141398009 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18984.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0145a0001c0001t0017g0174 | 2 | 300 | 0.0067 | 0 | c.-11 others(4): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141398017 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18984.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0145a0001c0001t0017g0174 | 2 | 300 | 0.0067 | 0 | c.-11 others(4): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141398061 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18984.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0145a0001c0001t0017g0174 | 2 | 300 | 0.0067 | 0 | c.-67 others(3): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHGB7_chr5_141412677_141517975 | 141417772 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(122): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0006a0001c0017others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0002g0008a0001c0001t0002g0011a0001c0001t0002g0012others(122): Show | 125 | 306 | 0.4085 | 0 | c.-88 others(3): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCDHGC5_chr5_141484081_141517975 | 141489086 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02615.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0008 | a0001c0008t0012 | a0001c0008t0012g0075a0001c0008t0012g0076a0001c0008t0012g0077others(1): Show | 4 | 364 | 0.0110 | 0 | c.-15 others(4): Show |
PCDHGC5 | ENSG00000240764.4 | transcript | ENST00000252087.3 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2840237 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02074.hp2 NA18950.hp1 NA18951.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0011a0001c0002t0004g0034 | 5 | 436 | 0.0115 | 0 | c.-48 others(3): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
PCGF2_chr17_38728898_38753336 | 38747883 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0177 | 1 | 401 | 0.0025 | 0 | c.-45 others(3): Show |
PCGF2 | ENSG00000277258.5 | transcript | ENST00000620225.5 | protein_coding | 2/11 | chr17 | TogoVar | ||||||
PCM1_chr8_17917988_18034948 | 17923147 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00609.hp1 | a0006 | a0006c0008 | a0006c0008t0033 | a0006c0008t0033g0277 | 1 | 368 | 0.0027 | 0 | c.-13 others(4): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 1/39 | chr8 | TogoVar | ||||||
PCMTD1_chr8_51812583_51904036 | 51899020 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01517.hp1 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0288 | 1 | 336 | 0.0030 | 0 | c.-18 others(4): Show |
PCMTD1 | ENSG00000168300.14 | transcript | ENST00000522514.6 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70907669 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00733.hp1 HG01109.hp2 HG01891.hp1 others(10): Show |
a0001a0004 | a0001c0003a0004c0011 | a0001c0003t0013a0004c0011t0032 | a0001c0003t0013g0134a0001c0003t0013g0135a0001c0003t0013g0136others(10): Show | 13 | 352 | 0.0369 | 0 | c.-18 others(4): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/36 | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70907845 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(57): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0002t0007a0001c0002t0009others(8): Show | a0001c0002t0005g0001a0001c0002t0005g0055a0001c0002t0005g0056others(56): Show | 60 | 352 | 0.1705 | 0 | c.-6G others(2): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/36 | chr14 | TogoVar | ||||||
PCNX4_chr14_60086923_60153221 | 60092315 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02074.hp2 NA18942.hp1 NA18945.hp1 others(5): Show |
a0001a0011 | a0001c0001a0011c0020 | a0001c0001t0007a0011c0020t0007 | a0001c0001t0007g0002a0001c0001t0007g0040a0001c0001t0007g0041others(3): Show | 8 | 308 | 0.0260 | 0 | c.-15 others(4): Show |
PCNX4 | ENSG00000126773.13 | transcript | ENST00000406854.6 | protein_coding | 1/11 | chr14 | TogoVar | ||||||
PCP2_chr19_7626615_7638719 | 7633498 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00741.hp1 HG01433.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0023 | 2 | 412 | 0.0049 | 0 | c.-41 others(3): Show |
PCP2 | ENSG00000174788.10 | transcript | ENST00000311069.6 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
PCP4_chr21_39862438_39934392 | 39867453 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 2 | 428 | 0.0047 | 0 | c.-49 others(3): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 1/3 | chr21 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75890973 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp1 HG01074.hp1 HG01106.hp1 others(32): Show |
a0001a0002a0003others(20): Show | a0001c0013a0001c0049a0001c0054others(28): Show | a0001c0013t0022a0001c0013t0023a0001c0049t0013others(30): Show | a0001c0013t0022g0081a0001c0013t0023g0137a0001c0049t0013g0120others(32): Show | 35 | 166 | 0.2108 | 0 | c.-20 others(4): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/38 | chr9 | TogoVar | ||||||
PCSK9_chr1_55034548_55069852 | 55039774 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp2 HG00544.hp1 HG00642.hp2 others(38): Show |
a0002a0006a0017 | a0002c0004a0002c0005a0006c0008others(2): Show | a0002c0004t0003a0002c0004t0005a0002c0004t0022others(6): Show | a0002c0004t0003g0004a0002c0004t0003g0014a0002c0004t0003g0029others(24): Show | 41 | 408 | 0.1005 | 0 | c.-64 others(3): Show |
PCSK9 | ENSG00000169174.12 | transcript | ENST00000302118.5 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
PCSK9_chr1_55034548_55069852 | 55039784 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02886.hp2 | a0004 | a0004c0019 | a0004c0019t0021 | a0004c0019t0021g0123 | 1 | 408 | 0.0025 | 0 | c.-54 others(3): Show |
PCSK9 | ENSG00000169174.12 | transcript | ENST00000302118.5 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
PCTP_chr17_55746051_55782374 | 55751057 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0014 | 1 | 288 | 0.0035 | 0 | c.-47 others(3): Show |
PCTP | ENSG00000141179.14 | transcript | ENST00000268896.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24647156 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(20): Show | a0001c0001t0004g0195a0001c0001t0004g0203a0001c0001t0004g0206others(62): Show | 69 | 260 | 0.2654 | 0 | c.-51 others(3): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/8 | chrX | TogoVar | ||||||
PDCD1LG2_chr9_5505531_5576282 | 5510644 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00408.hp2 HG00544.hp1 others(106): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(8): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0005others(99): Show | 109 | 406 | 0.2685 | 0 | c.-17 others(4): Show |
PDCD1LG2 | ENSG00000197646.8 | transcript | ENST00000397747.5 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
PDCD1LG2_chr9_5505531_5576282 | 5510679 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01109.hp1 HG02717.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0012 | a0001c0001t0012g0247a0002c0002t0012g0330 | 2 | 406 | 0.0049 | 0 | c.-13 others(4): Show |
PDCD1LG2 | ENSG00000197646.8 | transcript | ENST00000397747.5 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
PDCD2_chr6_170570295_170589637 | 170584609 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0032 | 1 | 372 | 0.0027 | 0 | c.-28 others(3): Show |
PDCD2 | ENSG00000071994.11 | transcript | ENST00000541970.6 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
PDCL_chr9_122813097_122833588 | 122828575 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18993.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0121 | 1 | 422 | 0.0024 | 0 | c.-11 others(4): Show |
PDCL | ENSG00000136940.14 | transcript | ENST00000259467.9 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165662863 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0218 | 1 | 222 | 0.0045 | 0 | c.-52 others(3): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/22 | chr6 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165662988 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02055.hp2 HG02257.hp2 HG03139.hp1 others(1): Show |
a0002 | a0002c0013a0002c0027a0002c0028others(1): Show | a0002c0013t0035a0002c0027t0037a0002c0028t0036others(1): Show | a0002c0013t0035g0220a0002c0027t0037g0222a0002c0028t0036g0221others(1): Show | 4 | 222 | 0.0180 | 0 | c.-17 others(4): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/22 | chr6 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20368853 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 HG02572.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0144a0001c0001t0145others(4): Show | a0001c0001t0025g0002a0001c0001t0025g0003a0001c0001t0144g0145others(5): Show | 8 | 198 | 0.0404 | 0 | c.-43 others(4): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
PDE4A_chr19_10415538_10474630 | 10420710 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02258.hp1 HG02647.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0026a0001c0006t0010 | a0001c0001t0026g0014a0001c0006t0010g0202a0001c0006t0010g0203others(1): Show | 4 | 322 | 0.0124 | 0 | c.-55 others(3): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 1/15 | chr19 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65793014 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02965.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018 | a0001c0001t0017g0053a0001c0001t0018g0052 | 2 | 118 | 0.0170 | 0 | c.-30 others(4): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
PDE6D_chr2_231727433_231786282 | 231781171 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 266 | 0.0038 | 0 | c.-57 others(3): Show |
PDE6D | ENSG00000156973.14 | transcript | ENST00000287600.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
PDE6H_chr12_14968042_14986865 | 14973055 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0046a0001c0002t0005g0073 | 2 | 448 | 0.0045 | 0 | c.-73 others(3): Show |
PDE6H | ENSG00000139053.3 | transcript | ENST00000266395.3 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65841953 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00323.hp2 HG02258.hp1 HG02683.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0030a0003c0003t0081 | a0001c0001t0030g0183a0001c0001t0030g0184a0003c0003t0081g0227 | 3 | 248 | 0.0121 | 0 | c.-44 others(4): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 519050 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0135 | a0001c0001t0135g0297 | 1 | 302 | 0.0033 | 0 | c.-49 others(3): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 1/6 | chr7 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39243979 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0191 | 1 | 386 | 0.0026 | 0 | c.-16 others(3): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 1/7 | chr22 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156971421 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0004 | 1 | 208 | 0.0048 | 0 | c.-51 others(4): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
PDGFRB_chr5_150108839_150160845 | 150155748 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18951.hp2 | a0008 | a0008c0019 | a0008c0019t0033 | a0008c0019t0033g0367 | 1 | 418 | 0.0024 | 0 | c.-35 others(4): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
PDILT_chr16_20354175_20409737 | 20404725 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0007t0004 | a0001c0001t0004g0396a0001c0007t0004g0397 | 2 | 406 | 0.0049 | 0 | c.-23 others(4): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PDK2_chr17_50090351_50117152 | 50095375 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0003 | 1 | 398 | 0.0025 | 0 | c.-61 others(3): Show |
PDK2 | ENSG00000005882.12 | transcript | ENST00000503176.6 | protein_coding | 1/11 | chr17 | TogoVar | ||||||
PDK4_chr7_95578499_95601516 | 95596370 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02572.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0002t0034 | a0001c0001t0035g0109a0001c0002t0034g0108 | 2 | 384 | 0.0052 | 0 | c.-77 others(3): Show |
PDK4 | ENSG00000004799.8 | transcript | ENST00000005178.6 | protein_coding | 1/11 | chr7 | TogoVar |