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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCLO_chr7_82749012_83167884 | 83038017 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02723.hp2 NA18522.hp1 |
a0012 | a0012c0009 | a0012c0009t0013 | a0012c0009t0013g0034a0012c0009t0013g0126 | 2 | 188 | 0.0106 | -22 | c.330 others(43): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83097054 | ATATTATA others(15): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA21309.hp2 |
a0003a0032 | a0003c0090a0032c0050 | a0003c0090t0036a0032c0050t0008 | a0003c0090t0036g0173a0032c0050t0008g0073 | 2 | 188 | 0.0106 | -22 | c.330 others(43): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCM1_chr8_17917988_18034948 | 18001995 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | NA18960.hp2 NA18998.hp2 |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0011 | a0003c0003t0002g0243a0003c0003t0011g0178 | 2 | 368 | 0.0054 | -22 | c.482 others(41): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PCMTD1_chr8_51812583_51904036 | 51867476 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0002a0001c0001t0003g0009a0001c0001t0003g0010others(38): Show | 53 | 336 | 0.1577 | -22 | c.-95 others(39): Show |
PCMTD1 | ENSG00000168300.14 | transcript | ENST00000522514.6 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46380145 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 332 | 0.0030 | -22 | c.316 others(41): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46381196 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01515.hp1 HG01517.hp1 others(25): Show |
a0004a0005a0015others(7): Show | a0004c0004a0005c0016a0005c0024others(9): Show | a0004c0004t0001a0004c0004t0006a0005c0016t0001others(10): Show | a0004c0004t0001g0090a0004c0004t0001g0097a0004c0004t0001g0098others(25): Show | 28 | 332 | 0.0843 | -22 | c.316 others(39): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70971115 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | NA19007.hp1 NA19009.hp1 NA19085.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0012 | a0001c0002t0003g0339a0001c0002t0003g0343a0001c0002t0012g0344 | 3 | 352 | 0.0085 | -22 | c.604 others(39): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 5/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994396 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0017 | a0017c0031 | a0017c0031t0075 | a0017c0031t0075g0054 | 1 | 352 | 0.0028 | -22 | c.244 others(41): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71006103 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0213 | 1 | 352 | 0.0028 | -22 | c.263 others(41): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX3_chr11_65610776_65642439 | 65618690 | GTACTGAC others(15): Show |
G | frameshift_variant | HIGH | NA19076.hp1 | a0011 | a0011c0036 | a0011c0036t0009 | a0011c0036t0009g0060 | 1 | 396 | 0.0025 | -22 | c.133 others(31): Show |
p.Thr others(5): Show |
PCNX3 | ENSG00000197136.5 | transcript | ENST00000355703.4 | protein_coding | 6/35 | 1866/7102 | 1330/6105 | 444/2034 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
PCOLCE_chr7_100597363_100613175 | 100612495 | AGGCCGGG others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0047 | 2 | 332 | 0.0060 | -22 | c.*43 others(33): Show |
PCOLCE | ENSG00000106333.13 | transcript | ENST00000223061.6 | protein_coding | 4321 | chr7 | TogoVar | ||||||
PCSK1N_chrX_48826096_48840610 | 48834779 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 4 | 314 | 0.0127 | -22 | c.114 others(37): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 1/2 | chrX | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17488425 | AGTTACAG others(15): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 274 | 0.0037 | -22 | c.*63 others(33): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 3848 | chr20 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75976274 | CCACACAC others(15): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 |
a0006a0011 | a0006c0036a0011c0007 | a0006c0036t0023a0011c0007t0034 | a0006c0036t0023g0004a0011c0007t0034g0096 | 2 | 166 | 0.0121 | -22 | c.298 others(39): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75994400 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00544.hp2 others(48): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0004a0001c0054others(40): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(48): Show | a0001c0001t0002g0101a0001c0001t0003g0155a0001c0001t0008g0107others(48): Show | 51 | 166 | 0.3072 | -22 | c.411 others(39): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76040363 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG03486.hp1 others(2): Show |
a0001a0002a0017 | a0001c0001a0002c0019a0017c0027 | a0001c0001t0003a0001c0001t0005a0001c0001t0026others(2): Show | a0001c0001t0003g0155a0001c0001t0005g0047a0001c0001t0026g0087others(2): Show | 5 | 166 | 0.0301 | -22 | c.632 others(41): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76173496 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 HG03471.hp1 others(2): Show |
a0005a0009a0023 | a0005c0037a0009c0011a0009c0038others(2): Show | a0005c0037t0014a0009c0011t0004a0009c0038t0021others(2): Show | a0005c0037t0014g0118a0009c0011t0004g0052a0009c0038t0021g0132others(2): Show | 5 | 166 | 0.0301 | -22 | c.175 others(41): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCYT1B_chrX_24553087_24652347 | 24623364 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0072 | a0001c0002t0072g0161 | 1 | 260 | 0.0039 | -22 | c.118 others(39): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PDCD10_chr3_167678298_167739892 | 167725761 | GTTTATAT others(15): Show |
G | intron_variant | MODIFIER | NA18945.hp2 NA18964.hp2 NA18980.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002a0001c0001t0004g0103 | 4 | 284 | 0.0141 | -22 | c.-11 others(41): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
PDCD10_chr3_167678298_167739892 | 167725763 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01433.hp1 HG01928.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146a0001c0001t0003g0147a0001c0001t0003g0148 | 3 | 284 | 0.0106 | -22 | c.-11 others(41): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 302070 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 360 | 0.0028 | -22 | c.164 others(39): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDCL_chr9_122813097_122833588 | 122821735 | TGGCCTCT others(15): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0077 | 1 | 422 | 0.0024 | -22 | c.355 others(39): Show |
PDCL | ENSG00000136940.14 | transcript | ENST00000259467.9 | protein_coding | 3/3 | chr9 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165498423 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(1): Show |
a0001 | a0001c0003a0001c0019 | a0001c0003t0002a0001c0019t0008 | a0001c0003t0002g0140a0001c0003t0002g0191a0001c0003t0002g0195others(1): Show | 4 | 222 | 0.0180 | -22 | c.995 others(41): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165656258 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG02074.hp1 HG02165.hp1 HG02165.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0091a0001c0001t0001g0095a0001c0001t0001g0100others(13): Show | 16 | 222 | 0.0721 | -22 | c.865 others(39): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177660075 | CTTTCTTT others(15): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0080 | 1 | 170 | 0.0059 | -22 | c.264 others(41): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177795935 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02258.hp1 others(13): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0014others(9): Show | a0001c0001t0005g0060a0001c0001t0005g0062a0001c0001t0010g0059others(13): Show | 16 | 170 | 0.0941 | -22 | c.173 others(43): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 9/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177853662 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG03225.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0021a0001c0001t0046a0001c0005t0002others(2): Show | a0001c0001t0021g0040a0001c0001t0046g0041a0001c0005t0002g0010others(2): Show | 5 | 170 | 0.0294 | -22 | c.136 others(43): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177853664 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01884.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0027a0002c0011 | a0001c0027t0005a0002c0011t0001 | a0001c0027t0005g0127a0002c0011t0001g0003 | 2 | 170 | 0.0118 | -22 | c.136 others(43): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177853676 | ATATATGT others(15): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01243.hp2 others(2): Show |
a0001a0002a0012 | a0001c0003a0002c0004a0012c0018 | a0001c0003t0024a0002c0004t0001a0002c0004t0004others(2): Show | a0001c0003t0024g0110a0002c0004t0001g0109a0002c0004t0004g0111others(2): Show | 5 | 170 | 0.0294 | -22 | c.136 others(43): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31766020 | TTCAATGA others(15): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp1 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0085a0001c0005t0003g0086 | 2 | 262 | 0.0076 | -22 | c.196 others(41): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 17/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31875793 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0194 | 1 | 262 | 0.0038 | -22 | c.492 others(39): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 5/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31925039 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01167.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(1): Show | a0001c0001t0001g0256a0001c0001t0002g0058a0001c0005t0003g0019others(4): Show | 7 | 262 | 0.0267 | -22 | c.129 others(41): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE2A_chr11_72571141_72679422 | 72652372 | TAGTAGCT others(15): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 | 1 | 292 | 0.0034 | -22 | c.72- others(39): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 1/30 | chr11 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20467933 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG00741.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0006a0001c0001t0026a0001c0001t0034others(5): Show | a0001c0001t0006g0093a0001c0001t0026g0094a0001c0001t0034g0004others(5): Show | 8 | 198 | 0.0404 | -22 | c.961 others(41): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20541075 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0129 | 1 | 198 | 0.0051 | -22 | c.961 others(41): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3B_chr11_14638804_14877044 | 14642091 | CCACACAC others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp2 HG03225.hp1 HG03486.hp2 |
a0001a0007 | a0001c0004a0007c0009 | a0001c0004t0005a0007c0009t0005 | a0001c0004t0005g0330a0001c0004t0005g0331a0007c0009t0005g0329 | 3 | 332 | 0.0090 | -22 | c.-19 others(33): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1712 | chr11 | TogoVar | ||||||
PDE4A_chr19_10415538_10474630 | 10449335 | GTTTGTTT others(15): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01952.hp2 others(10): Show |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0007a0001c0001t0009a0006c0014t0007 | a0001c0001t0007g0032a0001c0001t0007g0034a0001c0001t0007g0035others(10): Show | 13 | 322 | 0.0404 | -22 | c.620 others(37): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PDE4D_chr5_58964038_59898726 | 59172028 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 74 | 0.0135 | -22 | c.808 others(39): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59426998 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 74 | 0.0135 | -22 | c.456 others(43): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59502663 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 74 | 0.0135 | -22 | c.456 others(43): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59668900 | GAAGAAGA others(15): Show |
G | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 74 | 0.0135 | -22 | c.455 others(43): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59890254 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0001t0013a0001c0004t0007 | a0001c0001t0011g0010a0001c0001t0013g0009a0001c0004t0007g0011 | 3 | 74 | 0.0405 | -22 | c.455 others(39): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149920970 | GAAAGAAA others(15): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03540.hp2 |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0001a0004c0014t0025 | a0001c0001t0001g0011a0004c0014t0025g0012a0004c0014t0025g0013 | 3 | 328 | 0.0092 | -22 | c.933 others(37): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 5/21 | chr5 | TogoVar | ||||||
PDE6C_chr10_93607537_93671010 | 93622643 | TTTTTTTG others(15): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0367 | 1 | 384 | 0.0026 | -22 | c.864 others(37): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE6H_chr12_14968042_14986865 | 14986124 | GAAAATAG others(15): Show |
G | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 448 | 0.0022 | -22 | c.*46 others(33): Show |
PDE6H | ENSG00000139053.3 | transcript | ENST00000266395.3 | protein_coding | 4260 | chr12 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65762991 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0014 | 1 | 248 | 0.0040 | -22 | c.284 others(41): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85066583 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01243.hp1 others(8): Show |
a0001a0003a0008 | a0001c0001a0003c0005a0008c0011 | a0001c0001t0001a0003c0005t0002a0008c0011t0001 | a0001c0001t0001g0039a0001c0001t0001g0043a0001c0001t0001g0196others(8): Show | 11 | 344 | 0.0320 | -22 | c.244 others(37): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85123337 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262a0001c0001t0002g0263a0001c0001t0002g0264 | 3 | 344 | 0.0087 | -22 | c.208 others(39): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77225942 | GAAAACAG others(15): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0194others(106): Show | 109 | 314 | 0.3471 | -22 | c.339 others(41): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77329836 | TTCTGCGA others(15): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0299 | 1 | 314 | 0.0032 | -22 | c.650 others(37): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |