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 | 31925039 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02559.hp1 NA19043.hp1 |
a0001 | a0001c0009 | a0001c0009t0003a0001c0009t0015 | a0001c0009t0003g0007 a0001c0009t0015g0008 |
2 | 262 | 0.0076 | -18 | c.129 others(37): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 32027607 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | NA19043.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0182 a0001c0004t0001g0191 |
2 | 262 | 0.0076 | -18 | c.128 others(37): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 32030078 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0003 | a0001c0001t0006g0201 a0001c0003t0003g0079 |
2 | 262 | 0.0076 | -18 | c.128 others(37): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 32056320 | TTCTCTCT others(11): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02559.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0012others(5): Show | a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0157 others(10): Show |
13 | 262 | 0.0496 | -18 | c.102 others(35): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72612275 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 292 | 0.0034 | -18 | c.145 others(35): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 2/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72650876 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01123.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(4): Show | a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0224 others(23): Show |
28 | 292 | 0.0959 | -18 | c.72- others(33): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 1/30 | chr11 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20400379 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(50): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0001g0128 others(50): Show |
53 | 198 | 0.2677 | -18 | c.960 others(37): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20401434 | TAACATTC others(11): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0046a0001c0001t0053others(1): Show | a0001c0001t0014g0171 a0001c0001t0014g0172 a0001c0001t0046g0150 others(2): Show |
5 | 198 | 0.0253 | -18 | c.960 others(37): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20467933 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0072 | a0001c0001t0002g0142 a0001c0001t0072g0014 |
2 | 198 | 0.0101 | -18 | c.961 others(37): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20541075 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0053a0001c0003t0095 | a0001c0001t0053g0127 a0001c0003t0095g0076 |
2 | 198 | 0.0101 | -18 | c.961 others(37): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20689406 | CATGGTGT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0125 | 1 | 198 | 0.0051 | -18 | c.*91 others(29): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 824 | chr12 | TogoVar | |||||||
PDE3B_chr11_14638804_14877044 | 14721844 | GCAGCACA others(11): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 332 | 0.0030 | -18 | c.979 others(37): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE4A_chr19_10415538_10474630 | 10428357 | CGAGAGAG others(11): Show |
C | intron_variant | MODIFIER | HG02165.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0112 a0001c0001t0003g0281 |
2 | 322 | 0.0062 | -18 | c.320 others(35): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66096508 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0058 | 1 | 118 | 0.0085 | -18 | c.282 others(39): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66371094 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 a0001c0001t0005g0059 a0001c0001t0005g0064 others(2): Show |
5 | 118 | 0.0424 | -18 | c.184 others(37): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4DIP_chr1_148839428_149038016 | 148847867 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG03491.hp2 |
a0001a0008 | a0001c0001a0008c0018 | a0001c0001t0006a0008c0018t0012 | a0001c0001t0006g0002 a0001c0001t0006g0003 a0008c0018t0012g0023 |
3 | 24 | 0.1250 | -18 | c.20+ others(33): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59065063 | TATATACA others(11): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0015 a0001c0001t0005g0012 a0001c0001t0005g0050 |
3 | 74 | 0.0405 | -18 | c.809 others(37): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59172018 | ATATATAA others(11): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 74 | 0.0135 | -18 | c.808 others(35): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59237782 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01169.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 others(22): Show |
25 | 74 | 0.3378 | -18 | c.456 others(37): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59318567 | AAGGGTTC others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0011 | a0001c0001t0007g0033 a0001c0001t0009g0013 a0001c0001t0011g0010 |
3 | 74 | 0.0405 | -18 | c.456 others(39): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59403234 | CAATGCAT others(11): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 74 | 0.0135 | -18 | c.456 others(39): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59616918 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0016 a0001c0001t0011g0010 |
2 | 74 | 0.0270 | -18 | c.455 others(39): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59651258 | CAATAATA others(11): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0074 | 1 | 74 | 0.0135 | -18 | c.455 others(39): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59668839 | GGAAGAGG others(11): Show |
G | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0047 | 1 | 74 | 0.0135 | -18 | c.455 others(39): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59668845 | GGAAGAAG others(11): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 74 | 0.0135 | -18 | c.455 others(39): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59712393 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0016 a0001c0001t0003g0045 |
2 | 74 | 0.0270 | -18 | c.455 others(39): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59803630 | GATTCTGG others(11): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0001t0013a0001c0004t0007 | a0001c0001t0011g0010 a0001c0001t0013g0009 a0001c0004t0007g0011 |
3 | 74 | 0.0405 | -18 | c.455 others(37): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59890254 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0018 | 1 | 74 | 0.0135 | -18 | c.455 others(35): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE5A_chr4_119489403_119633804 | 119612825 | TTATAGCA others(11): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01884.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0157 a0003c0004t0008g0158 a0003c0004t0008g0159 others(2): Show |
5 | 336 | 0.0149 | -18 | c.153 others(35): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149884278 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03041.hp1 HG03540.hp1 |
a0001a0004 | a0001c0001a0001c0002a0004c0026 | a0001c0001t0017a0001c0002t0017a0004c0026t0032 | a0001c0001t0017g0179 a0001c0002t0017g0280 a0004c0026t0032g0203 |
3 | 328 | 0.0092 | -18 | c.202 others(35): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 16/21 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 668487 | ACTACCCC others(11): Show |
A | intron_variant | MODIFIER | HG03942.hp2 | a0013 | a0013c0035 | a0013c0035t0003 | a0013c0035t0003g0069 | 1 | 308 | 0.0033 | -18 | c.250 others(35): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 668734 | GCCATGCT others(11): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 308 | 0.0033 | -18 | c.250 others(35): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 668891 | TTCCCCTA others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0050 a0001c0009t0009g0263 a0001c0009t0009g0264 |
3 | 308 | 0.0097 | -18 | c.250 others(35): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 669225 | TTCCCCTA others(11): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(45): Show |
a0001a0003a0011others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0099 a0001c0001t0001g0129 others(45): Show |
48 | 308 | 0.1558 | -18 | c.250 others(35): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65713439 | AACACACA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0054 | 1 | 248 | 0.0040 | -18 | c.*58 others(29): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 894 | chr8 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65762991 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0057others(2): Show | a0001c0001t0005g0062 a0001c0001t0005g0065 a0001c0001t0005g0066 others(6): Show |
9 | 248 | 0.0363 | -18 | c.284 others(37): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65841963 | GGCCGCCG others(11): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01167.hp1 NA18985.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0037 | a0001c0001t0023g0006 a0001c0001t0023g0007 a0001c0001t0037g0005 |
3 | 248 | 0.0121 | -18 | c.-47 others(27): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/13 | 456 | chr8 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135997413 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02897.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0029 | a0001c0001t0001g0113 a0001c0001t0002g0023 a0001c0001t0029g0009 |
3 | 142 | 0.0211 | -18 | c.82+ others(35): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 136056512 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035 | 1 | 142 | 0.0070 | -18 | c.83- others(35): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85066583 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG00621.hp2 NA18952.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0145 a0001c0001t0005g0150 a0001c0001t0008g0016 |
3 | 344 | 0.0087 | -18 | c.244 others(33): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85123337 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01099.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(18): Show |
21 | 344 | 0.0611 | -18 | c.208 others(35): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77233654 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 314 | 0.0032 | -18 | c.339 others(37): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77271246 | TAAAACCT others(11): Show |
T | intron_variant | MODIFIER | HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022 | a0001c0001t0011g0304 a0001c0001t0022g0302 |
2 | 314 | 0.0064 | -18 | c.340 others(37): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
PDE8B_chr5_77205680_77433256 | 77378456 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0083 a0001c0001t0021g0148 a0001c0001t0021g0150 |
3 | 314 | 0.0096 | -18 | c.116 others(39): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77429952 | CTTACACC others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 314 | 0.0032 | -18 | c.*33 others(29): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 1697 | chr5 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 497941 | AAAAAAAA others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0023 | 1 | 302 | 0.0033 | -18 | c.*60 others(27): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 6/6 | 605 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 502768 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0097 | a0001c0002t0097g0148 | 1 | 302 | 0.0033 | -18 | c.454 others(35): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39243240 | GTCTCTCT others(11): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 386 | 0.0026 | -18 | c.63+ others(31): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247873 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 2 | 386 | 0.0052 | -18 | c.-39 others(29): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2892 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247877 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 386 | 0.0026 | -18 | c.-39 others(29): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2896 | chr22 | TogoVar |