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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE10A_chr6_165322289_165668241 | 165548276 | CTTTTTTT | C | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01255.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0001g0041a0001c0001t0004g0188a0001c0001t0009g0148others(5): Show | 8 | 222 | 0.0360 | -7 | c.866 others(24): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177627017 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02717.hp2 others(5): Show |
a0001a0002a0005 | a0001c0003a0001c0005a0002c0002others(3): Show | a0001c0003t0049a0001c0003t0066a0001c0005t0065others(4): Show | a0001c0003t0049g0143a0001c0003t0066g0150a0001c0005t0065g0017others(5): Show | 8 | 170 | 0.0471 | -7 | c.*23 others(18): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 20/20 | 2383 | chr2 | TogoVar | |||||
PDE11A_chr2_177618244_178077777 | 177793537 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG02040.hp1 HG02055.hp1 others(17): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(16): Show | a0001c0001t0002g0089a0001c0001t0005g0085a0001c0001t0008g0084others(17): Show | 20 | 170 | 0.1177 | -7 | c.173 others(28): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 9/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177809586 | TCATCCTA | T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00673.hp1 others(51): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(32): Show | a0001c0001t0002g0058a0001c0001t0003g0049a0001c0001t0003g0138others(51): Show | 54 | 170 | 0.3177 | -7 | c.173 others(26): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 9/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 178077256 | CTTTCTTT | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG01081.hp2 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0020others(2): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0022others(7): Show | a0001c0001t0002g0058a0001c0001t0011g0037a0001c0001t0022g0057others(12): Show | 15 | 170 | 0.0882 | -7 | c.-48 others(18): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 4480 | chr2 | TogoVar | ||||||
PDE1B_chr12_54544601_54584239 | 54548913 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(241): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0007a0001c0001t0002g0014a0001c0001t0002g0015others(187): Show | 244 | 430 | 0.5674 | -7 | c.-87 others(16): Show |
PDE1B | ENSG00000123360.12 | transcript | ENST00000243052.8 | protein_coding | 687 | chr12 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 32014850 | AGTCATTT | A | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0051a0001c0002t0001g0025a0001c0003t0001g0042others(2): Show | 5 | 262 | 0.0191 | -7 | c.128 others(26): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE2A_chr11_72571141_72679422 | 72577758 | AAGTCAGG | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(115): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(16): Show | a0001c0001t0001g0039a0001c0001t0001g0051a0001c0001t0001g0079others(112): Show | 118 | 292 | 0.4041 | -7 | c.261 others(24): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 30/30 | chr11 | TogoVar | ||||||
PDE2A_chr11_72571141_72679422 | 72629252 | TGCAGAGG | T | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02615.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(5): Show | a0001c0001t0001g0105a0001c0001t0001g0259a0001c0001t0009g0264others(16): Show | 19 | 292 | 0.0651 | -7 | c.144 others(26): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 2/30 | chr11 | TogoVar | ||||||
PDE2A_chr11_72571141_72679422 | 72650849 | TCCCTGAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(168): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(29): Show | a0001c0001t0001g0034a0001c0001t0001g0039a0001c0001t0001g0051others(157): Show | 171 | 292 | 0.5856 | -7 | c.72- others(22): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 1/30 | chr11 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20400379 | GTTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG02717.hp1 HG02818.hp1 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0014others(2): Show | a0001c0001t0004a0001c0001t0034a0002c0002t0140others(3): Show | a0001c0001t0004g0052a0001c0001t0034g0004a0002c0002t0140g0035others(3): Show | 6 | 198 | 0.0303 | -7 | c.960 others(26): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20467933 | CAAAAAAA | C | intron_variant | MODIFIER | HG01358.hp1 HG01934.hp2 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0046a0001c0001t0148others(4): Show | a0001c0001t0001g0079a0001c0001t0046g0150a0001c0001t0148g0021others(4): Show | 7 | 198 | 0.0354 | -7 | c.961 others(26): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20541075 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01192.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(11): Show | a0001c0001t0001g0132a0001c0001t0009g0043a0001c0001t0009g0167others(12): Show | 15 | 198 | 0.0758 | -7 | c.961 others(26): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20640858 | CATAATAT | C | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG01433.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0011a0001c0003t0005a0001c0003t0033others(2): Show | a0001c0001t0011g0011a0001c0003t0005g0131a0001c0003t0033g0049others(2): Show | 5 | 198 | 0.0253 | -7 | c.225 others(24): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20673862 | AAAAAAAT | A | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02615.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0049a0001c0001t0147a0002c0004t0129others(1): Show | a0001c0001t0049g0115a0001c0001t0147g0083a0002c0004t0129g0038others(1): Show | 4 | 198 | 0.0202 | -7 | c.318 others(26): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3B_chr11_14638804_14877044 | 14712466 | GTTTTTTT | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(94): Show |
a0001a0003a0004 | a0001c0001a0003c0015a0004c0014 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(94): Show | 97 | 332 | 0.2922 | -7 | c.979 others(26): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDE4A_chr19_10415538_10474630 | 10423157 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02572.hp1 others(9): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0039a0001c0001t0004g0040a0001c0001t0004g0041others(9): Show | 12 | 322 | 0.0373 | -7 | c.320 others(24): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PDE4A_chr19_10415538_10474630 | 10427993 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(23): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0005a0001c0001t0017a0001c0001t0030others(5): Show | a0001c0001t0005g0200a0001c0001t0005g0211a0001c0001t0005g0212others(23): Show | 26 | 322 | 0.0808 | -7 | c.320 others(24): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PDE4A_chr19_10415538_10474630 | 10447217 | CTTTTTTT | C | intron_variant | MODIFIER | HG02523.hp1 NA18950.hp2 NA18952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0130a0001c0001t0001g0137others(4): Show | 7 | 322 | 0.0217 | -7 | c.512 others(22): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PDE4A_chr19_10415538_10474630 | 10462217 | TCCGCCTC | T | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0284a0001c0001t0005g0286a0001c0001t0013g0318 | 3 | 322 | 0.0093 | -7 | c.174 others(24): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PDE4A_chr19_10415538_10474630 | 10471281 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp2 others(111): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(13): Show | a0001c0001t0003g0001a0001c0001t0003g0015a0001c0001t0003g0027others(108): Show | 114 | 322 | 0.3540 | -7 | c.*36 others(18): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 1652 | chr19 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65809332 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01070.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0031a0001c0001t0002g0003others(20): Show | 23 | 118 | 0.1949 | -7 | 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 | 65834265 | AACTCCTG | A | intron_variant | MODIFIER | HG01167.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0115 | 2 | 118 | 0.0170 | -7 | 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 | 65887231 | TTTCTTTC | T | intron_variant | MODIFIER | HG00738.hp2 HG02559.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011 | a0001c0001t0001g0071a0001c0001t0009g0038a0001c0001t0011g0002 | 3 | 118 | 0.0254 | -7 | c.-70 others(26): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 65887235 | TTTCTTTC | T | intron_variant | MODIFIER | NA18947.hp2 NA19010.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0082a0001c0002t0001g0083 | 2 | 118 | 0.0170 | -7 | c.-70 others(26): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 65908775 | GAAGGGCC | G | intron_variant | MODIFIER | HG02922.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0081a0001c0002t0001g0110 | 2 | 118 | 0.0170 | -7 | c.-70 others(24): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66172777 | CATTATGT | C | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00738.hp2 others(95): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0017others(95): Show | 98 | 118 | 0.8305 | -7 | c.282 others(26): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 66215028 | AGAAATAG | A | intron_variant | MODIFIER | HG02083.hp1 HG02293.hp2 HG02300.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0114a0001c0001t0002g0015a0001c0001t0002g0022others(2): Show | 5 | 118 | 0.0424 | -7 | c.282 others(26): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 66279381 | GGAAATAA | G | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0010a0001c0002t0001 | a0001c0001t0008g0070a0001c0001t0010g0043a0001c0002t0001g0075 | 3 | 118 | 0.0254 | -7 | c.634 others(26): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 66342548 | TAAAAAAA | T | intron_variant | MODIFIER | HG01167.hp1 HG01255.hp1 HG02148.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0031a0001c0001t0001g0046a0001c0001t0001g0056others(10): Show | 13 | 118 | 0.1102 | -7 | c.747 others(24): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4D_chr5_58964038_59898726 | 58995994 | TGGATGAA | T | intron_variant | MODIFIER | HG01257.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0058 | 2 | 74 | 0.0270 | -7 | c.922 others(24): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 6/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59099567 | GTACGAGT | G | intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0023 | a0001c0001t0006g0067a0001c0001t0009g0070a0001c0001t0023g0065 | 3 | 74 | 0.0405 | -7 | c.809 others(26): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59207656 | TTGTGGAA | T | intron_variant | MODIFIER | HG01884.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0011a0001c0005t0004 | a0001c0001t0011g0017a0001c0005t0004g0074 | 2 | 74 | 0.0270 | -7 | c.647 others(24): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 2/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59400738 | AAAAAAAT | A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0003g0042a0001c0001t0004g0031others(5): Show | 8 | 74 | 0.1081 | -7 | c.456 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59668915 | GAAGAAGA | G | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 NA18966.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0052a0001c0001t0002g0039a0001c0001t0004g0028others(2): Show | 5 | 74 | 0.0676 | -7 | c.455 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119592456 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(106): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0165others(104): Show | 109 | 336 | 0.3244 | -7 | c.831 others(24): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
PDE6D_chr2_231727433_231786282 | 231740680 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01074.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0013others(24): Show | 30 | 266 | 0.1128 | -7 | c.51- others(22): Show |
PDE6D | ENSG00000156973.14 | transcript | ENST00000287600.9 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
PDE6D_chr2_231727433_231786282 | 231750660 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01069.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0015a0001c0001t0002g0016others(41): Show | 48 | 266 | 0.1805 | -7 | c.51- others(24): Show |
PDE6D | ENSG00000156973.14 | transcript | ENST00000287600.9 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65798197 | TATATATA | T | intron_variant | MODIFIER | HG00733.hp1 HG01070.hp1 HG01074.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0027a0001c0001t0064 | a0001c0001t0006g0048a0001c0001t0027g0049a0001c0001t0027g0050others(1): Show | 4 | 248 | 0.0161 | -7 | c.139 others(26): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135935124 | AGATGAAG | A | intron_variant | MODIFIER | HG03225.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0106a0001c0001t0015g0018 | 2 | 142 | 0.0141 | -7 | c.22- others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135935158 | TGAGACAG | T | intron_variant | MODIFIER | HG00099.hp1 HG03942.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0061a0001c0001t0001g0097a0001c0001t0009g0056 | 3 | 142 | 0.0211 | -7 | c.22- others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135997413 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG02083.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0058a0001c0001t0001g0107a0001c0001t0002g0007others(4): Show | 7 | 142 | 0.0493 | -7 | c.82+ others(24): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77423627 | GTTTAGTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00738.hp1 others(28): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(8): Show | a0001c0002t0001g0049a0001c0002t0001g0050a0001c0002t0001g0051others(28): Show | 31 | 314 | 0.0987 | -7 | c.241 others(26): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42662615 | ACACACAC | A | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0001g0280a0001c0001t0009g0212a0001c0002t0001g0227others(2): Show | 5 | 324 | 0.0154 | -7 | c.69+ others(22): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42727489 | ATTTTTTT | A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0244a0001c0001t0001g0257a0001c0001t0001g0280others(3): Show | 6 | 324 | 0.0185 | -7 | c.263 others(24): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42751466 | GGTAGACA | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02258.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0002g0151a0001c0002t0001g0165a0001c0002t0001g0168others(8): Show | 11 | 324 | 0.0340 | -7 | c.735 others(22): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDF_chr16_69321913_69335588 | 69331453 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01515.hp2 HG02602.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0002g0002others(3): Show | 19 | 364 | 0.0522 | -7 | c.-89 others(16): Show |
ENSG00000258429.2 | transcript | ENST00000288022.2 | protein_coding | 866 | chr16 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511376 | GGGGTGGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(140): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(72): Show | a0001c0001t0001g0219a0001c0001t0001g0220a0001c0001t0001g0231others(138): Show | 143 | 302 | 0.4735 | -7 | c.266 others(22): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 514967 | AAGACCCC | A | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01074.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(20): Show | a0001c0001t0001g0166a0001c0001t0007g0197a0001c0001t0007g0199others(24): Show | 28 | 302 | 0.0927 | -7 | c.160 others(24): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2/5 | chr7 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39244732 | GGCTGCGA | G | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00738.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(12): Show | a0001c0001t0004g0013a0001c0001t0004g0026a0001c0001t0004g0082others(30): Show | 39 | 386 | 0.1010 | -7 | c.-77 others(16): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 1/7 | 770 | chr22 | TogoVar |