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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE1C_chr7_31746179_32075407 | 31825104 | TTATGTAC others(6): Show |
T | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 262 | 0.0038 | -13 | c.128 others(30): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 12/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 32012213 | TGGCCTCT others(6): Show |
T | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0069 a0001c0003t0003g0183 |
2 | 262 | 0.0076 | -13 | c.128 others(32): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 32027607 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG01891.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0003 | a0001c0001t0002g0021 a0001c0005t0003g0019 |
2 | 262 | 0.0076 | -13 | c.128 others(32): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20400379 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0063 | 1 | 198 | 0.0051 | -13 | c.960 others(32): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20467933 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG04228.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0012a0001c0003t0033a0001c0012t0122 | a0001c0001t0012g0106 a0001c0003t0033g0049 a0001c0012t0122g0182 |
3 | 198 | 0.0152 | -13 | c.961 others(32): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20541075 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01358.hp1 HG02055.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(2): Show | a0001c0001t0021a0001c0003t0005a0001c0012t0122others(3): Show | a0001c0001t0021g0047 a0001c0001t0021g0048 a0001c0003t0005g0131 others(4): Show |
7 | 198 | 0.0354 | -13 | c.961 others(32): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14812770 | TTATATCC others(6): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 332 | 0.0030 | -13 | c.152 others(32): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE4A_chr19_10415538_10474630 | 10425984 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0199 | 1 | 322 | 0.0031 | -13 | c.320 others(30): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PDE4A_chr19_10415538_10474630 | 10465683 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00609.hp1 others(60): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(5): Show | a0001c0001t0001g0164 a0002c0002t0002g0003 a0002c0002t0002g0075 others(59): Show |
63 | 322 | 0.1957 | -13 | c.192 others(32): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65964894 | TTATACCC others(6): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00738.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0031 others(60): Show |
63 | 118 | 0.5339 | -13 | c.281 others(32): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66268667 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 118 | 0.0085 | -13 | c.634 others(30): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4DIP_chr1_148839428_149038016 | 148846444 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01981.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0011a0001c0013t0009 | a0001c0001t0011g0004 a0001c0013t0009g0022 |
2 | 24 | 0.0833 | -13 | c.20+ others(28): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 58981361 | AAGTAAAG others(6): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0066 | 1 | 74 | 0.0135 | -13 | c.155 others(32): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 11/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59176217 | GACCTACC others(6): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01257.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(29): Show |
32 | 74 | 0.4324 | -13 | c.808 others(30): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59519069 | TCTTTCTT others(6): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 74 | 0.0135 | -13 | c.456 others(34): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59668778 | GAAGAAGA others(6): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0071 | 1 | 74 | 0.0135 | -13 | c.455 others(34): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59668909 | GAAGAAGA others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0045 a0001c0001t0008g0057 |
2 | 74 | 0.0270 | -13 | c.455 others(34): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59897908 | CAGGTTCT others(6): Show |
C | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 74 | 0.0135 | -13 | c.-42 others(24): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 4183 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149923562 | ACATAACA others(6): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0010 | a0010c0028 | a0010c0028t0065 | a0010c0028t0065g0224 | 1 | 328 | 0.0031 | -13 | c.859 others(30): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 622507 | TTCTCACA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01975.hp2 HG02647.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0268 a0002c0003t0005g0269 a0002c0003t0005g0270 others(7): Show |
10 | 308 | 0.0325 | -13 | c.-31 others(24): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3065 | chr4 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 622521 | TCTCACAG others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0166 | 1 | 308 | 0.0033 | -13 | c.-31 others(24): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3051 | chr4 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 622554 | TGTGCATC others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02165.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0072 a0001c0001t0012g0027 |
2 | 308 | 0.0065 | -13 | c.-30 others(24): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3018 | chr4 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 622822 | CTCACAGG others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18948.hp1 NA19054.hp1 NA19084.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0257 a0001c0001t0003g0249 a0001c0001t0003g0250 others(1): Show |
4 | 308 | 0.0130 | -13 | c.-28 others(24): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2750 | chr4 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 622895 | CGTCTCAC others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0025 | a0001c0001t0001a0001c0025t0001 | a0001c0001t0001g0005 a0001c0025t0001g0005 |
2 | 308 | 0.0065 | -13 | c.-27 others(24): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2677 | chr4 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 622958 | CGTCTCAC others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0136 a0001c0001t0001g0220 a0001c0001t0001g0231 others(1): Show |
4 | 308 | 0.0130 | -13 | c.-26 others(24): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2614 | chr4 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 623000 | CTCACAGG others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0123 | 1 | 308 | 0.0033 | -13 | c.-26 others(24): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2572 | chr4 | TogoVar | |||||||
PDE6C_chr10_93607537_93671010 | 93622639 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG02698.hp2 others(1): Show |
a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0020 a0002c0010t0001g0021 a0002c0010t0001g0022 others(1): Show |
4 | 384 | 0.0104 | -13 | c.864 others(28): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDE6C_chr10_93607537_93671010 | 93622649 | TGTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(75): Show |
a0002a0007a0009 | a0002c0002a0002c0003a0002c0008others(4): Show | a0002c0002t0001a0002c0002t0004a0002c0003t0001others(5): Show | a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0077 others(75): Show |
78 | 384 | 0.2031 | -13 | c.864 others(28): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 4/21 | chr10 | TogoVar | |||||||
PDE6G_chr17_81645459_81661542 | 81660085 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01081.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 15 | 434 | 0.0346 | -13 | c.-36 others(24): Show |
PDE6G | ENSG00000185527.12 | transcript | ENST00000331056.10 | protein_coding | 3544 | chr17 | TogoVar | |||||||
PDE7B_chr6_135846701_136200574 | 135935118 | AGAGAGAG others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01070.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0077 a0001c0001t0001g0089 others(18): Show |
21 | 142 | 0.1479 | -13 | c.22- others(30): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
PDE7B_chr6_135846701_136200574 | 135935156 | TATGAGAC others(6): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02698.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0079 a0001c0001t0001g0106 others(7): Show |
10 | 142 | 0.0704 | -13 | c.22- others(30): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
PDE7B_chr6_135846701_136200574 | 135997413 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0005 | a0003c0005t0020 | a0003c0005t0020g0140 | 1 | 142 | 0.0070 | -13 | c.82+ others(30): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85140288 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 344 | 0.0029 | -13 | c.*23 others(24): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1147 | chr15 | TogoVar | |||||||
PDE8B_chr5_77205680_77433256 | 77225874 | ACACACAC others(6): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0020a0001c0001t0022others(1): Show | a0001c0001t0003g0040 a0001c0001t0020g0176 a0001c0001t0022g0010 others(1): Show |
4 | 314 | 0.0127 | -13 | c.339 others(32): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77399817 | TTTAACTC others(6): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0036 | 1 | 314 | 0.0032 | -13 | c.116 others(30): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42662769 | GACACACA others(6): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02258.hp1 others(22): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0177 others(22): Show |
25 | 324 | 0.0772 | -13 | c.69+ others(28): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247863 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 386 | 0.0026 | -13 | c.-39 others(24): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2882 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247878 | AAAAAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 386 | 0.0052 | -13 | c.-39 others(24): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2897 | chr22 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156798085 | GGGAGGCT others(6): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 208 | 0.0048 | -13 | c.495 others(32): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156826174 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02818.hp2 HG03098.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0016a0001c0001t0020others(1): Show | a0001c0001t0009g0035 a0001c0001t0009g0099 a0001c0001t0009g0172 others(4): Show |
7 | 208 | 0.0337 | -13 | c.315 others(32): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156851930 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 208 | 0.0048 | -13 | c.119 others(30): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156973791 | GTGTGTGT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 208 | 0.0048 | -13 | c.-29 others(24): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1993 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103955163 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02622.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0007g0122 a0001c0002t0001g0061 a0001c0002t0001g0075 others(5): Show |
8 | 200 | 0.0400 | -13 | c.511 others(30): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119263 | TATATAAT others(6): Show |
T | intron_variant | MODIFIER | HG02717.hp1 NA18957.hp2 NA18985.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0007 a0001c0001t0003g0019 a0001c0002t0001g0005 |
3 | 200 | 0.0150 | -13 | c.124 others(32): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119469 | TGATATAA others(6): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01256.hp2 HG02040.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0132 others(13): Show |
16 | 200 | 0.0800 | -13 | c.124 others(32): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119502 | TATATAAT others(6): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01256.hp2 HG02040.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0132 others(13): Show |
16 | 200 | 0.0800 | -13 | c.124 others(32): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104160769 | AAGGCTCT others(6): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02040.hp1 NA18964.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0119 a0001c0001t0002g0132 a0001c0001t0002g0137 others(8): Show |
11 | 200 | 0.0550 | -13 | c.124 others(30): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFRA_chr4_54224293_54303245 | 54261918 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG02145.hp1 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0025 | a0002c0002t0002g0292 a0002c0002t0025g0113 |
2 | 300 | 0.0067 | -13 | c.367 others(28): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 3/22 | chr4 | TogoVar | |||||||
PDGFRB_chr5_150108839_150160845 | 150127833 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01123.hp2 others(13): Show |
a0002 | a0002c0003a0002c0032 | a0002c0003t0005a0002c0003t0027a0002c0032t0005 | a0002c0003t0005g0004 a0002c0003t0005g0050 a0002c0003t0005g0052 others(11): Show |
16 | 418 | 0.0383 | -13 | c.158 others(32): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 10/22 | chr5 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17579543 | TTTTATTA others(6): Show |
T | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 | 1 | 400 | 0.0025 | -13 | c.55+ others(28): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |