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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCYOX1_chr2_70253137_70286185 | 70283096 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0006 | 1 | 424 | 0.0024 | 17 | c.*57 others(28): Show |
PCYOX1 | ENSG00000116005.12 | transcript | ENST00000433351.7 | protein_coding | 1912 | chr2 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0174 | 1 | 260 | 0.0039 | 17 | c.117 others(34): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02698.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0048 | a0001c0001t0001g0087 a0001c0001t0002g0086 a0001c0001t0048g0088 |
3 | 260 | 0.0115 | 17 | c.117 others(34): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318246 | C | CACCTCCC others(10): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 360 | 0.0028 | 17 | c.*37 others(28): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3273 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318260 | C | CTTTACCT others(10): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01192.hp2 HG01346.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0080 a0001c0002t0001g0042 a0001c0002t0001g0043 others(4): Show |
7 | 360 | 0.0194 | 17 | c.*37 others(28): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3287 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318317 | C | CCTCCCCC others(10): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0292 | 1 | 360 | 0.0028 | 17 | c.*38 others(28): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3344 | chr5 | TogoVar | |||||||
PDCL2_chr4_55551519_55597245 | 55571686 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01069.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0115 others(11): Show |
20 | 376 | 0.0532 | 17 | c.219 others(34): Show |
PDCL2 | ENSG00000163440.12 | transcript | ENST00000295645.9 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
PDCL2_chr4_55551519_55597245 | 55593359 | T | TAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 376 | 0.0027 | 17 | c.-12 others(28): Show |
PDCL2 | ENSG00000163440.12 | transcript | ENST00000295645.9 | protein_coding | 1115 | chr4 | TogoVar | |||||||
PDC_chr1_186438566_186466114 | 186455797 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02155.hp1 HG02602.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0118 others(3): Show |
9 | 404 | 0.0223 | 17 | c.-25 others(34): Show |
PDC | ENSG00000116703.14 | transcript | ENST00000391997.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PDC_chr1_186438566_186466114 | 186459781 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 a0001c0001t0001g0310 |
2 | 404 | 0.0050 | 17 | c.-25 others(34): Show |
PDC | ENSG00000116703.14 | transcript | ENST00000391997.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165498423 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 222 | 0.0045 | 17 | c.995 others(36): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177631322 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0014a0001c0003t0014 | a0001c0001t0008g0086 a0001c0001t0008g0148 a0001c0001t0014g0065 others(1): Show |
4 | 170 | 0.0235 | 17 | c.264 others(36): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177737449 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18942.hp1 |
a0002 | a0002c0004a0002c0021 | a0002c0004t0004a0002c0021t0001 | a0002c0004t0004g0118 a0002c0021t0001g0110 |
2 | 170 | 0.0118 | 17 | c.178 others(36): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 10/19 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177819860 | T | TTCTCTTC others(10): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0039 | 1 | 170 | 0.0059 | 17 | c.157 others(34): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 7/19 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177957910 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02630.hp1 HG02886.hp1 others(7): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0002c0034others(1): Show | a0001c0001t0011a0001c0001t0013a0001c0001t0021others(6): Show | a0001c0001t0011g0039 a0001c0001t0013g0036 a0001c0001t0021g0042 others(7): Show |
10 | 170 | 0.0588 | 17 | c.107 others(38): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182358960 | C | CCCTTCCT others(10): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0104 | 1 | 264 | 0.0038 | 17 | c.53+ others(34): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182364466 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18991.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0021 | a0001c0001t0004g0147 a0001c0001t0021g0203 |
2 | 264 | 0.0076 | 17 | c.53+ others(34): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182385661 | A | AAGAAAGA others(10): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0159 | 1 | 264 | 0.0038 | 17 | c.53+ others(34): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182403598 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp2 HG03471.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(3): Show | a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0011g0012 others(4): Show |
7 | 264 | 0.0265 | 17 | c.53+ others(34): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE1B_chr12_54544601_54584239 | 54572132 | C | CTTCTCAA others(10): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03139.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006 | a0001c0001t0002g0299 a0001c0002t0006g0046 |
3 | 430 | 0.0070 | 17 | c.595 others(32): Show |
PDE1B | ENSG00000123360.12 | transcript | ENST00000243052.8 | protein_coding | 6/15 | chr12 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31930848 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0027 | 1 | 262 | 0.0038 | 17 | c.129 others(36): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20368458 | C | CCTTCTCA others(10): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0125 | 1 | 198 | 0.0051 | 17 | c.-82 others(26): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 78 | chr12 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20385999 | T | TATATAAA others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0046 | 1 | 198 | 0.0051 | 17 | c.960 others(36): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20481764 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0137 | a0002c0002t0137g0193 | 1 | 198 | 0.0051 | 17 | c.961 others(36): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20687914 | G | GAAAAAAA others(10): Show |
3_prime_UTR_variant | MODIFIER | HG01071.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0071a0001c0001t0082 | a0001c0001t0071g0196 a0001c0001t0082g0064 |
2 | 198 | 0.0101 | 17 | c.*76 others(28): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 16/16 | 7667 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 65887247 | T | TTTCTTTT others(10): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0033 | 1 | 118 | 0.0085 | 17 | c.-70 others(36): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65887414 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001 | a0001c0001t0009g0038 a0001c0002t0001g0075 |
2 | 118 | 0.0170 | 17 | c.-70 others(36): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65924077 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01261.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0056 a0001c0001t0001g0066 others(12): Show |
15 | 118 | 0.1271 | 17 | c.281 others(34): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66090616 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 118 | 0.0085 | 17 | c.282 others(38): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59649904 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0051 a0001c0001t0002g0036 a0001c0001t0002g0039 others(3): Show |
6 | 74 | 0.0811 | 17 | c.455 others(38): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE5A_chr4_119489403_119633804 | 119592456 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0005 | a0005c0009 | a0005c0009t0007 | a0005c0009t0007g0148 | 1 | 336 | 0.0030 | 17 | c.831 others(34): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149889081 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01517.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0127 others(13): Show |
16 | 328 | 0.0488 | 17 | c.172 others(36): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149906519 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02976.hp2 HG03516.hp2 |
a0002 | a0002c0003a0002c0012 | a0002c0003t0011a0002c0012t0006a0002c0012t0018 | a0002c0003t0011g0217 a0002c0012t0006g0212 a0002c0012t0018g0216 |
3 | 328 | 0.0092 | 17 | c.106 others(34): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 7/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0168 | 1 | 328 | 0.0031 | 17 | c.858 others(34): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01074.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0023 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0065 a0001c0001t0001g0139 a0001c0001t0001g0160 others(11): Show |
14 | 328 | 0.0427 | 17 | c.858 others(34): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATTT others(10): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 328 | 0.0031 | 17 | c.858 others(34): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATTTTT others(10): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0144 | 1 | 328 | 0.0031 | 17 | c.858 others(34): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 628196 | A | AGCCTCAT others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01358.hp2 HG02622.hp2 others(2): Show |
a0001a0004a0009 | a0001c0001a0004c0007a0009c0032 | a0001c0001t0006a0004c0007t0008a0009c0032t0008 | a0001c0001t0006g0255 a0004c0007t0008g0252 a0004c0007t0008g0253 others(2): Show |
5 | 308 | 0.0162 | 17 | c.468 others(34): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6D_chr2_231727433_231786282 | 231781626 | G | GACCACAG others(10): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01069.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(39): Show |
46 | 266 | 0.1729 | 17 | c.-52 others(26): Show |
PDE6D | ENSG00000156973.14 | transcript | ENST00000287600.9 | protein_coding | 345 | chr2 | TogoVar | |||||||
PDE6H_chr12_14968042_14986865 | 14982038 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0035 | 1 | 448 | 0.0022 | 17 | c.*56 others(26): Show |
PDE6H | ENSG00000139053.3 | transcript | ENST00000266395.3 | protein_coding | 174 | chr12 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65798206 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0082 | 1 | 248 | 0.0040 | 17 | c.139 others(36): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65798206 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0075 | 1 | 248 | 0.0040 | 17 | c.139 others(36): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
PDE8A_chr15_84976856_85144142 | 85017887 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0137 | 1 | 344 | 0.0029 | 17 | c.186 others(36): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77397026 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0135 | 1 | 314 | 0.0032 | 17 | c.116 others(36): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77423632 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0157 | 1 | 314 | 0.0032 | 17 | c.241 others(36): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 499720 | T | TCCCCCCA others(10): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0108 | 1 | 302 | 0.0033 | 17 | c.581 others(34): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 499720 | T | TCCCCCCC others(10): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19084.hp2 |
a0001a0016 | a0001c0001a0016c0017 | a0001c0001t0106a0016c0017t0007 | a0001c0001t0106g0196 a0016c0017t0007g0250 |
2 | 302 | 0.0066 | 17 | c.581 others(34): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156891279 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 208 | 0.0048 | 17 | c.119 others(36): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17590236 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 NA19078.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0015 |
2 | 400 | 0.0050 | 17 | c.353 others(32): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(10): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 | 1 | 400 | 0.0025 | 17 | c.940 others(32): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |