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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE11A_chr2_177618244_178077777 | 177803307 | TAACAACA others(2): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG01081.hp1 others(27): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0017others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(21): Show | a0001c0001t0002g0079a0001c0001t0002g0089a0001c0001t0005g0085others(27): Show | 30 | 170 | 0.1765 | -9 | c.173 others(30): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 9/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177830601 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(53): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(34): Show | a0001c0001t0002g0058a0001c0001t0003g0138a0001c0001t0007g0052others(53): Show | 56 | 170 | 0.3294 | -9 | c.150 others(28): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 6/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177871525 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0014others(4): Show | a0001c0001t0021a0001c0001t0046a0001c0006t0002others(6): Show | a0001c0001t0021g0040a0001c0001t0046g0041a0001c0006t0002g0007others(8): Show | 11 | 170 | 0.0647 | -9 | c.136 others(28): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177916927 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01243.hp1 others(12): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0014others(11): Show | a0001c0001t0005g0060a0001c0001t0005g0062a0001c0001t0010g0059others(12): Show | 15 | 170 | 0.0882 | -9 | c.107 others(30): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
PDE1A_chr2_182135041_182432036 | 182246396 | TTTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG00741.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0002g0006a0001c0001t0002g0039a0001c0001t0002g0040others(42): Show | 45 | 264 | 0.1705 | -9 | c.168 others(26): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
PDE1A_chr2_182135041_182432036 | 182384458 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0055a0001c0001t0001g0065a0001c0001t0001g0066others(60): Show | 63 | 264 | 0.2386 | -9 | c.53+ others(26): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31786941 | CTATCTAT others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG02258.hp2 HG02572.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0111a0001c0001t0002g0058a0001c0001t0002g0112others(11): Show | 14 | 262 | 0.0534 | -9 | c.189 others(30): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 16/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31859447 | TAATAATA others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01071.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0035a0001c0001t0001g0047a0001c0001t0001g0053others(45): Show | 48 | 262 | 0.1832 | -9 | c.750 others(26): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 7/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 32027607 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02280.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0162a0001c0001t0003g0248others(8): Show | 11 | 262 | 0.0420 | -9 | c.128 others(28): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20467933 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01070.hp1 others(24): Show |
a0001a0002a0009 | a0001c0001a0001c0006a0001c0016others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(21): Show | a0001c0001t0002g0087a0001c0001t0002g0178a0001c0001t0005g0005others(24): Show | 27 | 198 | 0.1364 | -9 | c.961 others(28): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20541075 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0114a0001c0001t0001g0128a0001c0001t0001g0154others(31): Show | 34 | 198 | 0.1717 | -9 | c.961 others(28): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20603553 | TATTTATT others(2): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02145.hp1 others(5): Show |
a0001a0002a0003 | a0001c0003a0002c0004a0003c0018 | a0001c0003t0037a0001c0003t0048a0001c0003t0058others(5): Show | a0001c0003t0037g0183a0001c0003t0048g0103a0001c0003t0058g0113others(5): Show | 8 | 198 | 0.0404 | -9 | c.101 others(28): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20614991 | TCTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02486.hp1 others(7): Show |
a0001a0006a0008 | a0001c0001a0006c0013a0008c0008 | a0001c0001t0001a0001c0001t0049a0001c0001t0063others(7): Show | a0001c0001t0001g0079a0001c0001t0049g0115a0001c0001t0063g0057others(7): Show | 10 | 198 | 0.0505 | -9 | c.127 others(28): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 3/15 | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20644844 | TCCTCCTC others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG02647.hp1 others(1): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0092a0002c0002t0141a0002c0007t0074others(1): Show | a0001c0001t0092g0123a0002c0002t0141g0059a0002c0007t0074g0134others(1): Show | 4 | 198 | 0.0202 | -9 | c.225 others(28): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20649953 | TATATATG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(83): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(66): Show | a0001c0001t0002g0033a0001c0001t0002g0055a0001c0001t0002g0056others(83): Show | 86 | 198 | 0.4343 | -9 | c.277 others(26): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3B_chr11_14638804_14877044 | 14803188 | GAGGTCCC others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01243.hp2 others(42): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0043others(42): Show | 45 | 332 | 0.1355 | -9 | c.141 others(26): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 65798238 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02257.hp1 HG02258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0082a0001c0001t0001g0084a0001c0001t0007g0078others(2): Show | 5 | 118 | 0.0424 | -9 | c.-71 others(26): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 65885855 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0084a0001c0001t0007g0079 | 2 | 118 | 0.0170 | -9 | c.-70 others(28): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 65895932 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02257.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0066a0001c0001t0001g0084a0001c0001t0004g0036others(1): Show | 4 | 118 | 0.0339 | -9 | c.-70 others(28): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 66075919 | CAAAACAA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG00738.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0028a0001c0001t0001g0046a0001c0001t0001g0055others(65): Show | 68 | 118 | 0.5763 | -9 | c.281 others(30): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 66095143 | AACTCCAC others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG03041.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0073a0001c0001t0001g0085a0001c0001t0002g0088others(2): Show | 5 | 118 | 0.0424 | -9 | c.282 others(30): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66174755 | GCAACAAC others(2): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0073a0001c0001t0005g0032 | 2 | 118 | 0.0170 | -9 | c.282 others(28): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4D_chr5_58964038_59898726 | 59031380 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01361.hp1 HG01515.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0021others(10): Show | 13 | 74 | 0.1757 | -9 | c.921 others(26): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 6/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59479617 | GATCATCA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(56): Show | 59 | 74 | 0.7973 | -9 | c.456 others(30): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59536504 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01517.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0030others(6): Show | 9 | 74 | 0.1216 | -9 | c.456 others(30): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59668845 | GGAAGAAG others(2): Show |
G | intron_variant | MODIFIER | HG02965.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0014 | a0001c0001t0004g0031a0001c0002t0014g0026 | 2 | 74 | 0.0270 | -9 | c.455 others(30): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59892552 | TCCAAGTC others(2): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01261.hp2 HG01515.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(24): Show | 27 | 74 | 0.3649 | -9 | c.455 others(24): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119528239 | ATGGCCCT others(2): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02886.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0127a0001c0002t0002g0131a0001c0002t0002g0132others(2): Show | 5 | 336 | 0.0149 | -9 | c.163 others(28): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 11/20 | chr4 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119534320 | AGAATTAC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(123): Show |
a0001a0008a0009 | a0001c0001a0001c0015a0008c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0142others(121): Show | 126 | 336 | 0.3750 | -9 | c.163 others(28): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 11/20 | chr4 | TogoVar | ||||||
PDE6C_chr10_93607537_93671010 | 93654802 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01069.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0011others(4): Show | a0001c0001t0001a0001c0005t0001a0001c0011t0001others(4): Show | a0001c0001t0001g0040a0001c0001t0001g0045a0001c0001t0001g0048others(18): Show | 22 | 384 | 0.0573 | -9 | c.193 others(26): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE6D_chr2_231727433_231786282 | 231745627 | ACTTTCGT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02809.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0044a0001c0001t0001g0045others(1): Show | 5 | 266 | 0.0188 | -9 | c.51- others(24): Show |
PDE6D | ENSG00000156973.14 | transcript | ENST00000287600.9 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
PDE6H_chr12_14968042_14986865 | 14968266 | TAAGCCTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0066others(1): Show | 6 | 448 | 0.0134 | -9 | c.-48 others(20): Show |
PDE6H | ENSG00000139053.3 | transcript | ENST00000266395.3 | protein_coding | 4775 | chr12 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65812040 | CTACAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01074.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0027a0001c0001t0064 | a0001c0001t0006g0048a0001c0001t0027g0049a0001c0001t0027g0050others(1): Show | 4 | 248 | 0.0161 | -9 | c.139 others(28): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65841963 | GGCCGCCG others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01109.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0011others(9): Show | a0001c0001t0006g0013a0001c0001t0006g0023a0001c0001t0006g0024others(37): Show | 41 | 248 | 0.1653 | -9 | c.-46 others(18): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/13 | 456 | chr8 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135935097 | ATTTCTCT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01070.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0077a0001c0001t0001g0089others(15): Show | 18 | 142 | 0.1268 | -9 | c.22- others(26): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135935122 | AGAGATGA others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02698.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0013a0001c0001t0001g0061a0001c0001t0001g0079others(6): Show | 9 | 142 | 0.0634 | -9 | c.22- others(26): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135935158 | TGAGACAG others(2): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01981.hp2 HG02451.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0089a0001c0001t0001g0103others(6): Show | 9 | 142 | 0.0634 | -9 | c.22- others(26): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135997413 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG02922.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0005a0001c0001t0024a0001c0001t0035others(4): Show | a0001c0001t0005g0012a0001c0001t0024g0080a0001c0001t0035g0054others(4): Show | 7 | 142 | 0.0493 | -9 | c.82+ others(26): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77225878 | ACACCCCA others(2): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02572.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0027a0001c0001t0002g0180a0001c0001t0005g0022others(1): Show | 4 | 314 | 0.0127 | -9 | c.339 others(28): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77398318 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0300a0001c0001t0002g0062a0001c0001t0002g0066others(40): Show | 43 | 314 | 0.1369 | -9 | c.116 others(28): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDF_chr16_69321913_69335588 | 69331453 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02451.hp1 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0010a0002c0002t0013 | a0002c0002t0006g0005a0002c0002t0010g0011a0002c0002t0013g0016 | 16 | 364 | 0.0440 | -9 | c.-89 others(18): Show |
ENSG00000258429.2 | transcript | ENST00000288022.2 | protein_coding | 866 | chr16 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156825551 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG03239.hp2 NA18906.hp1 NA19081.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0017a0001c0002t0005 | a0001c0001t0002g0060a0001c0001t0017g0001a0001c0002t0005g0122 | 3 | 208 | 0.0144 | -9 | c.315 others(28): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156825590 | TAATAAGA others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0166 | 2 | 208 | 0.0096 | -9 | c.315 others(28): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156825593 | TAAGAAGA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01975.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0027others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0136a0001c0001t0015g0027others(2): Show | 5 | 208 | 0.0240 | -9 | c.315 others(28): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104099636 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG03041.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0017others(2): Show | a0001c0001t0003g0123a0001c0001t0007g0122a0001c0001t0017g0023others(5): Show | 8 | 200 | 0.0400 | -9 | c.124 others(28): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFRA_chr4_54224293_54303245 | 54278223 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01361.hp1 NA18955.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0122a0001c0001t0001g0143a0001c0001t0001g0197others(5): Show | 8 | 300 | 0.0267 | -9 | c.200 others(26): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17579547 | ATTATTAT others(2): Show |
A | intron_variant | MODIFIER | HG03540.hp1 NA18946.hp1 NA18966.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0254a0001c0001t0001g0344a0001c0001t0001g0347others(5): Show | 8 | 400 | 0.0200 | -9 | c.55+ others(24): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17645569 | CATTACAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02630.hp1 HG03041.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228a0001c0001t0001g0229a0001c0001t0001g0232others(1): Show | 4 | 400 | 0.0100 | -9 | c.*27 others(20): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2426 | chr8 | TogoVar | ||||||
PDHX_chr11_34911618_35001128 | 34915001 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG00673.hp2 others(73): Show |
a0002a0008a0009 | a0002c0003a0002c0004a0002c0005others(6): Show | a0002c0003t0003a0002c0003t0010a0002c0004t0004others(8): Show | a0002c0003t0003g0023a0002c0003t0003g0024a0002c0003t0003g0025others(62): Show | 76 | 314 | 0.2420 | -9 | c.-16 others(20): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 1616 | chr11 | TogoVar | ||||||
PDHX_chr11_34911618_35001128 | 34933843 | CTAAGGAT others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03139.hp1 HG03516.hp1 others(1): Show |
a0001a0006 | a0001c0023a0006c0011 | a0001c0023t0009a0006c0011t0001 | a0001c0023t0009g0199a0006c0011t0001g0198a0006c0011t0001g0200others(1): Show | 4 | 314 | 0.0127 | -9 | c.241 others(26): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |