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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE6A_chr5_149852953_149949793 | 149923503 | AATAACAT others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00642.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0081others(26): Show | 29 | 328 | 0.0884 | -10 | c.859 others(27): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149932794 | TGCTGGAT others(3): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0119 | 1 | 328 | 0.0031 | -10 | c.717 others(27): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 3/21 | chr5 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 656082 | TGCCACGT others(3): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0027 | 1 | 308 | 0.0033 | -10 | c.105 others(25): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDE6C_chr10_93607537_93671010 | 93622655 | TTTTTTTG others(3): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0094 | 1 | 384 | 0.0026 | -10 | c.864 others(25): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE6C_chr10_93607537_93671010 | 93654774 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02572.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0002a0002c0003t0002a0002c0004t0002others(1): Show | a0001c0001t0002g0075a0001c0001t0002g0202a0002c0003t0002g0349others(3): Show | 6 | 384 | 0.0156 | -10 | c.193 others(27): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE6G_chr17_81645459_81661542 | 81651204 | CCCATCCC others(3): Show |
C | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 434 | 0.0023 | -10 | c.188 others(23): Show |
PDE6G | ENSG00000185527.12 | transcript | ENST00000331056.10 | protein_coding | 3/3 | chr17 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65710990 | TAGAGAGA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0150 | 1 | 248 | 0.0040 | -10 | c.*82 others(21): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3343 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65730171 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0161 | 1 | 248 | 0.0040 | -10 | c.697 others(27): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 7/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65744208 | TACAAAAC others(3): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015 | a0001c0001t0006g0023a0001c0001t0006g0024a0001c0001t0006g0025others(7): Show | 10 | 248 | 0.0403 | -10 | c.499 others(27): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 5/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65750474 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0175 | 1 | 248 | 0.0040 | -10 | c.284 others(27): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65750494 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 248 | 0.0040 | -10 | c.284 others(27): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65757601 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0188 | 1 | 248 | 0.0040 | -10 | c.284 others(27): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65770121 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0002g0100a0001c0001t0002g0172a0001c0001t0004g0200others(45): Show | 49 | 248 | 0.1976 | -10 | c.283 others(27): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65822935 | TTAACTTT others(3): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0085a0001c0001t0088 | a0001c0001t0085g0236a0001c0001t0088g0242 | 2 | 248 | 0.0081 | -10 | c.138 others(29): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135905348 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004 | a0001c0001t0004g0014a0001c0002t0004g0008 | 2 | 142 | 0.0141 | -10 | c.22- others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135931951 | GCGCACAC others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01109.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0001t0001g0060others(25): Show | 28 | 142 | 0.1972 | -10 | c.22- others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135935208 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp1 HG01952.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0025a0001c0001t0002g0096a0001c0001t0005g0020others(1): Show | 4 | 142 | 0.0282 | -10 | c.22- others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135961271 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG01175.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0076a0001c0001t0001g0105a0001c0001t0003g0044others(2): Show | 5 | 142 | 0.0352 | -10 | c.82+ others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135994116 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0029 | a0001c0001t0001g0076a0001c0001t0001g0089a0001c0001t0001g0133others(2): Show | 5 | 142 | 0.0352 | -10 | c.82+ others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135997413 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0071a0001c0001t0005g0070a0001c0001t0007g0139others(2): Show | 5 | 142 | 0.0352 | -10 | c.82+ others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 136056512 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131a0001c0001t0002g0132 | 2 | 142 | 0.0141 | -10 | c.83- others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85038214 | GGGGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(24): Show | 27 | 344 | 0.0785 | -10 | c.187 others(29): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85038216 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 344 | 0.0029 | -10 | c.187 others(29): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85066583 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01169.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0024others(7): Show | 10 | 344 | 0.0291 | -10 | c.244 others(25): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85123337 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01123.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0159 | 2 | 344 | 0.0058 | -10 | c.208 others(27): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85128052 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0016 | 1 | 344 | 0.0029 | -10 | c.225 others(29): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77335532 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0008 | a0001c0003t0007g0004a0001c0003t0007g0135a0001c0003t0008g0131others(3): Show | 6 | 314 | 0.0191 | -10 | c.709 others(27): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77335556 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(41): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0212a0001c0001t0003g0040a0001c0001t0003g0178others(41): Show | 44 | 314 | 0.1401 | -10 | c.709 others(27): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77340600 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0230 | 1 | 314 | 0.0032 | -10 | c.797 others(27): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77378009 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 314 | 0.0032 | -10 | c.116 others(31): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42726592 | CCATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0194a0001c0001t0004g0306a0001c0002t0001g0157others(6): Show | 9 | 324 | 0.0278 | -10 | c.263 others(27): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42769406 | CGGCACAC others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03453.hp2 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0230a0001c0002t0002g0292a0001c0002t0002g0295 | 3 | 324 | 0.0093 | -10 | c.159 others(27): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42769441 | TACACAGG others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp2 NA18984.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0105a0001c0001t0003g0015a0001c0001t0003g0027 | 3 | 324 | 0.0093 | -10 | c.159 others(27): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42769623 | TGCACACA others(3): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 324 | 0.0031 | -10 | c.159 others(27): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42769635 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 324 | 0.0031 | -10 | c.159 others(27): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDF_chr16_69321913_69335588 | 69327160 | CTTTTTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0031 | 1 | 364 | 0.0028 | -10 | c.*18 others(21): Show |
ENSG00000258429.2 | transcript | ENST00000288022.2 | protein_coding | 2/2 | 1852 | chr16 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 492722 | AGATGGCA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0089 | 1 | 302 | 0.0033 | -10 | c.*58 others(21): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4535 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494033 | CTAGGGGG others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0199 | 1 | 302 | 0.0033 | -10 | c.*45 others(21): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3224 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 497949 | AAAAAAAA others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01361.hp2 HG02055.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0052a0001c0002t0084 | a0001c0001t0052g0132a0001c0002t0084g0180 | 2 | 302 | 0.0066 | -10 | c.*60 others(19): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 6/6 | 605 | chr7 | TogoVar | |||||
PDGFA_chr7_492258_524846 | 510588 | TGGGGAGG others(3): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0013 | 1 | 302 | 0.0033 | -10 | c.453 others(25): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 510757 | GGGAGAGG others(3): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01261.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0020a0001c0001t0026others(7): Show | a0001c0001t0014g0160a0001c0001t0020g0273a0001c0001t0026g0065others(7): Show | 10 | 302 | 0.0331 | -10 | c.453 others(23): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 510767 | AGGAGGGG others(3): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0177 | 1 | 302 | 0.0033 | -10 | c.453 others(23): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39243252 | GTCTCTCT others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0042 | a0001c0003t0042g0200 | 1 | 386 | 0.0026 | -10 | c.63+ others(23): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 1/6 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247863 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp1 NA18950.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0008a0001c0001t0003g0065 | 4 | 386 | 0.0104 | -10 | c.-39 others(21): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2882 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39249777 | GCGCACAC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03669.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201a0001c0001t0002g0204 | 2 | 386 | 0.0052 | -10 | c.-58 others(21): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 4796 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39249779 | GCACACAC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 386 | 0.0026 | -10 | c.-58 others(21): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 4798 | chr22 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156802555 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0152a0001c0001t0011g0091a0001c0001t0011g0092 | 3 | 208 | 0.0144 | -10 | c.495 others(27): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156805641 | AGAGTTGG others(3): Show |
A | intron_variant | MODIFIER | HG03540.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0178a0001c0001t0023g0013 | 2 | 208 | 0.0096 | -10 | c.495 others(27): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156815323 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01071.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0154a0001c0001t0002g0020a0001c0001t0002g0031others(25): Show | 28 | 208 | 0.1346 | -10 | c.315 others(27): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156821165 | TTGTATGT others(3): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0172 | 1 | 208 | 0.0048 | -10 | c.315 others(29): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar |