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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCYT1B_chrX_24553087_24652347 | 24651467 | AAAAAAAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0170 | 1 | 260 | 0.0039 | -19 | c.-43 others(30): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4121 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24651469 | AAAAATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0086 | a0001c0002t0086g0169 | 1 | 260 | 0.0039 | -19 | c.-43 others(30): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4123 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24651471 | AAATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0163 | 1 | 260 | 0.0039 | -19 | c.-43 others(30): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4125 | chrX | TogoVar | |||||||
PDCD10_chr3_167678298_167739892 | 167700942 | AGTAAAGC others(12): Show |
A | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 284 | 0.0035 | -19 | c.151 others(36): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
PDCD1LG2_chr9_5505531_5576282 | 5574280 | GAGGAATT others(12): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0341 | 1 | 406 | 0.0025 | -19 | c.*43 others(30): Show |
PDCD1LG2 | ENSG00000197646.8 | transcript | ENST00000397747.5 | protein_coding | 2999 | chr9 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241861351 | ACAAAATT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 407 | 0.0025 | -19 | c.-25 others(30): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 2458 | chr2 | TogoVar | |||||||
PDCD6IP_chr3_33793630_33874703 | 33833479 | CCTTGTAT others(12): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0011 | a0002c0011t0012 | a0002c0011t0012g0173 | 1 | 318 | 0.0031 | -19 | c.835 others(36): Show |
PDCD6IP | ENSG00000170248.15 | transcript | ENST00000307296.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 317805 | TCCCCGGA others(12): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 360 | 0.0028 | -19 | c.*32 others(30): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2832 | chr5 | TogoVar | |||||||
PDCL2_chr4_55551519_55597245 | 55593359 | TAAAAAAA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02895.hp1 HG03139.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0249 a0001c0001t0001g0250 |
3 | 376 | 0.0080 | -19 | c.-12 others(30): Show |
PDCL2 | ENSG00000163440.12 | transcript | ENST00000295645.9 | protein_coding | 1115 | chr4 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165498423 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp2 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0013 | a0001c0001t0002a0001c0001t0015a0001c0007t0001others(1): Show | a0001c0001t0002g0177 a0001c0001t0015g0040 a0001c0007t0001g0213 others(1): Show |
4 | 222 | 0.0180 | -19 | c.995 others(38): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177627017 | CTTTTTTT others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0031others(8): Show | a0001c0001t0003g0051 a0001c0001t0003g0138 a0001c0001t0011g0039 others(13): Show |
16 | 170 | 0.0941 | -19 | c.*23 others(30): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 20/20 | 2371 | chr2 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 32027607 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01515.hp1 HG01516.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0051 a0001c0001t0001g0089 a0001c0001t0001g0109 others(8): Show |
11 | 262 | 0.0420 | -19 | c.128 others(38): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20400379 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0083 | a0001c0001t0029g0039 a0001c0001t0083g0185 |
2 | 198 | 0.0101 | -19 | c.960 others(38): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20467933 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03486.hp2 |
a0001a0002 | a0001c0012a0002c0002 | a0001c0012t0075a0002c0002t0112 | a0001c0012t0075g0001 a0002c0002t0112g0168 |
2 | 198 | 0.0101 | -19 | c.961 others(38): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20547185 | CTACTGTA others(12): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 HG03130.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0087a0001c0001t0092others(5): Show | a0001c0001t0001g0079 a0001c0001t0087g0013 a0001c0001t0092g0123 others(5): Show |
8 | 198 | 0.0404 | -19 | c.961 others(36): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE4DIP_chr1_148839428_149038016 | 148847867 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG03579.hp1 |
a0001 | a0001c0004a0001c0013 | a0001c0004t0010a0001c0013t0009 | a0001c0004t0010g0021 a0001c0013t0009g0022 |
2 | 24 | 0.0833 | -19 | c.20+ others(34): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4DIP_chr1_148839428_149038016 | 148847899 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0004 | 1 | 24 | 0.0417 | -19 | c.20+ others(34): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 1/46 | chr1 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59596782 | GGCAGCAA others(12): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0049 a0001c0001t0003g0044 a0001c0001t0004g0028 others(5): Show |
8 | 74 | 0.1081 | -19 | c.455 others(40): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59668903 | GAAGAAGA others(12): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0027 | 1 | 74 | 0.0135 | -19 | c.455 others(40): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149923560 | TAACATAA others(12): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01106.hp1 others(14): Show |
a0001a0002a0005 | a0001c0002a0001c0008a0001c0010others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0002t0001g0279 a0001c0002t0001g0285 a0001c0002t0001g0288 others(14): Show |
17 | 328 | 0.0518 | -19 | c.859 others(36): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 668430 | GCTACCCC others(12): Show |
G | intron_variant | MODIFIER | NA18983.hp1 NA19005.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0003g0180 |
3 | 308 | 0.0097 | -19 | c.250 others(36): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 669553 | GCCATGCT others(12): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 308 | 0.0033 | -19 | c.250 others(36): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 669647 | CCCATGCT others(12): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01358.hp2 HG02622.hp2 others(1): Show |
a0004a0009 | a0004c0007a0009c0032 | a0004c0007t0008a0009c0032t0008 | a0004c0007t0008g0252 a0004c0007t0008g0253 a0004c0007t0008g0254 others(1): Show |
4 | 308 | 0.0130 | -19 | c.250 others(36): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 669666 | GCCATGCT others(12): Show |
G | intron_variant | MODIFIER | NA18945.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0119 a0001c0001t0003g0070 |
2 | 308 | 0.0065 | -19 | c.250 others(36): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135934941 | AATATATA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01981.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0089 others(6): Show |
9 | 142 | 0.0634 | -19 | c.22- others(36): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 136056512 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG02155.hp1 NA18944.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0112 others(6): Show |
9 | 142 | 0.0634 | -19 | c.83- others(36): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDF_chr16_69321913_69335588 | 69332907 | TACTGGGA others(12): Show |
T | upstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 364 | 0.0028 | -19 | c.-23 others(30): Show |
ENSG00000258429.2 | transcript | ENST00000288022.2 | protein_coding | 2320 | chr16 | TogoVar | ||||||||
PDGFA_chr7_492258_524846 | 523569 | AGCCGTCA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0057a0001c0002t0062 | a0001c0001t0057g0017 a0001c0002t0062g0016 |
2 | 302 | 0.0066 | -19 | c.-45 others(30): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3724 | chr7 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247880 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 386 | 0.0026 | -19 | c.-39 others(30): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2899 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247882 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0099 a0001c0001t0018g0045 |
2 | 386 | 0.0052 | -19 | c.-39 others(30): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2901 | chr22 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156790005 | ATACTTTG others(12): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02280.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0011others(3): Show | a0001c0001t0004g0089 a0001c0001t0004g0093 a0001c0001t0004g0127 others(15): Show |
18 | 208 | 0.0865 | -19 | c.496 others(38): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156826174 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 208 | 0.0048 | -19 | c.315 others(38): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17638767 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0376 | 1 | 400 | 0.0025 | -19 | c.940 others(36): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | chr8 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10815087 | GAAATGCA others(12): Show |
G | upstream_gene_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0233 | 1 | 342 | 0.0029 | -19 | c.-24 others(30): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 2303 | chr2 | TogoVar | |||||||
PDLIM2_chr8_22575475_22599298 | 22581167 | CCATTAGA others(12): Show |
C | intron_variant | MODIFIER | NA18986.hp1 | a0018 | a0018c0031 | a0018c0031t0001 | a0018c0031t0001g0300 | 1 | 380 | 0.0026 | -19 | c.94- others(32): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
PDLIM5_chr4_94446942_94673223 | 94561064 | CTTGTCTT others(12): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02896.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0021 | a0001c0001t0002g0011 a0001c0001t0005g0007 a0001c0001t0021g0218 |
3 | 218 | 0.0138 | -19 | c.249 others(38): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177486931 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02055.hp2 HG02257.hp2 others(9): Show |
a0001a0008 | a0001c0001a0001c0014a0008c0031 | a0001c0001t0001a0001c0001t0003a0001c0014t0001others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(6): Show |
12 | 440 | 0.0273 | -19 | c.105 others(38): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
PDP2_chr16_66875515_66896101 | 66893528 | TATATATA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 356 | 0.0028 | -19 | c.*76 others(30): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2428 | chr16 | TogoVar | |||||||
PDP2_chr16_66875515_66896101 | 66893530 | TATATATA others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 356 | 0.0028 | -19 | c.*76 others(30): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2430 | chr16 | TogoVar | |||||||
PDP2_chr16_66875515_66896101 | 66893539 | ATATATGT others(12): Show |
A | downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 356 | 0.0028 | -19 | c.*76 others(30): Show |
PDP2 | ENSG00000172840.7 | transcript | ENST00000311765.4 | protein_coding | 2439 | chr16 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39973660 | AAACCATC others(12): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0286 a0001c0001t0003g0171 a0001c0001t0003g0172 |
3 | 356 | 0.0084 | -19 | c.138 others(36): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02040.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 others(7): Show |
10 | 334 | 0.0299 | -19 | c.-19 others(38): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32769722 | CTATGTGG others(12): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0282 | 1 | 334 | 0.0030 | -19 | c.362 others(36): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107210988 | CGTCTCAA others(12): Show |
C | intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 260 | 0.0039 | -19 | c.877 others(34): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107225155 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 260 | 0.0039 | -19 | c.703 others(38): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDXP_chr22_37653723_37671932 | 37661917 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp1 others(82): Show |
a0001a0005a0007 | a0001c0001a0001c0007a0005c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(3): Show | a0001c0001t0001g0040 a0001c0001t0001g0100 a0001c0001t0001g0109 others(20): Show |
85 | 418 | 0.2034 | -19 | c.574 others(36): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PDZD11_chrX_70281595_70294927 | 70294761 | TTGAATTT others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 310 | 0.0032 | -19 | c.-49 others(30): Show |
PDZD11 | ENSG00000120509.12 | transcript | ENST00000239666.9 | protein_coding | 4835 | chrX | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31833467 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(173): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0007others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(101): Show | a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 others(173): Show |
176 | 216 | 0.8148 | -19 | c.476 others(38): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117345137 | AACAGATT others(12): Show |
A | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0035 | 1 | 322 | 0.0031 | -19 | c.873 others(36): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117357765 | CCAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01496.hp2 NA18994.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0002c0003t0012a0002c0003t0062 | a0001c0002t0005g0034 a0002c0003t0012g0304 a0002c0003t0012g0307 others(1): Show |
4 | 322 | 0.0124 | -19 | c.872 others(38): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar |