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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE4D_chr5_58964038_59898726 | 59668845 | GGAAGAAG others(5): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0020a0001c0001t0004g0073 | 2 | 74 | 0.0270 | -12 | c.455 others(33): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59706839 | TGAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0015 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(2): Show | 5 | 74 | 0.0676 | -12 | c.455 others(33): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59762311 | TATATGGG others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 74 | 0.0135 | -12 | c.455 others(33): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59794137 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01361.hp2 HG01515.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0037a0001c0001t0002g0029others(4): Show | 7 | 74 | 0.0946 | -12 | c.455 others(31): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59798254 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0009a0001c0001t0021others(1): Show | a0001c0001t0001g0016a0001c0001t0009g0070a0001c0001t0021g0069others(1): Show | 4 | 74 | 0.0541 | -12 | c.455 others(31): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119527566 | AGGATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00597.hp2 others(106): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0002a0001c0002t0004a0001c0002t0011others(6): Show | a0001c0002t0002g0002a0001c0002t0002g0027a0001c0002t0002g0028others(104): Show | 109 | 336 | 0.3244 | -12 | c.163 others(31): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 11/20 | chr4 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119592456 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 336 | 0.0030 | -12 | c.831 others(29): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119628977 | GGCGGCGG others(5): Show |
G | upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0115 | 1 | 336 | 0.0030 | -12 | c.-31 others(21): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 174 | chr4 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149882051 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(106): Show |
a0001a0005a0007others(3): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0010a0001c0001t0001g0027a0001c0001t0001g0030others(106): Show | 109 | 328 | 0.3323 | -12 | c.213 others(31): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 17/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149884239 | GATATATG others(5): Show |
G | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 328 | 0.0031 | -12 | c.202 others(29): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 16/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149900375 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02148.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0008 | a0001c0001t0002g0020a0001c0006t0008g0031a0001c0006t0008g0063others(1): Show | 4 | 328 | 0.0122 | -12 | c.111 others(29): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 8/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149936158 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG02135.hp2 NA18986.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0022 | a0001c0001t0004g0104a0001c0002t0022g0231 | 2 | 328 | 0.0061 | -12 | c.475 others(29): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 660816 | TTGGATGG others(5): Show |
T | intron_variant | MODIFIER | HG03453.hp2 NA19030.hp1 |
a0006 | a0006c0013 | a0006c0013t0010 | a0006c0013t0010g0041a0006c0013t0010g0042 | 2 | 308 | 0.0065 | -12 | c.161 others(29): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDE6C_chr10_93607537_93671010 | 93622653 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp1 others(29): Show |
a0002a0004a0013 | a0002c0002a0002c0003a0002c0004others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0003t0003others(4): Show | a0002c0002t0001g0096a0002c0002t0001g0097a0002c0002t0001g0098others(29): Show | 32 | 384 | 0.0833 | -12 | c.864 others(27): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE6C_chr10_93607537_93671010 | 93636368 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0281 | 1 | 384 | 0.0026 | -12 | c.141 others(29): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE6C_chr10_93607537_93671010 | 93653647 | AAAAAACA others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01975.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0002c0003t0001a0002c0004t0001 | a0001c0001t0001g0163a0002c0003t0001g0262a0002c0004t0001g0194 | 3 | 384 | 0.0078 | -12 | c.193 others(31): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE6G_chr17_81645459_81661542 | 81646837 | TTTTGTTG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(268): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(50): Show | 271 | 434 | 0.6244 | -12 | c.*42 others(23): Show |
PDE6G | ENSG00000185527.12 | transcript | ENST00000331056.10 | protein_coding | 3621 | chr17 | TogoVar | ||||||
PDE6G_chr17_81645459_81661542 | 81654328 | TAGCCCTG others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 434 | 0.0023 | -12 | c.-59 others(27): Show |
PDE6G | ENSG00000185527.12 | transcript | ENST00000331056.10 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
PDE6G_chr17_81645459_81661542 | 81657880 | CAAATGAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp1 others(70): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0018others(16): Show | 73 | 434 | 0.1682 | -12 | c.-14 others(23): Show |
PDE6G | ENSG00000185527.12 | transcript | ENST00000331056.10 | protein_coding | 1339 | chr17 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65713439 | AACACACA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0150 | 1 | 248 | 0.0040 | -12 | c.*58 others(23): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 894 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65730171 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0237 | 1 | 248 | 0.0040 | -12 | c.697 others(29): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 7/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65750492 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0015 | 1 | 248 | 0.0040 | -12 | c.284 others(29): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65762991 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0051 | 1 | 248 | 0.0040 | -12 | c.284 others(31): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65770121 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00642.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0002g0099a0001c0001t0002g0125a0001c0001t0002g0128others(35): Show | 38 | 248 | 0.1532 | -12 | c.283 others(29): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 3/12 | chr8 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65841963 | GGCCGCCG others(5): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02896.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0024a0001c0001t0038a0002c0002t0039 | a0001c0001t0024g0008a0001c0001t0024g0009a0001c0001t0038g0010others(1): Show | 4 | 248 | 0.0161 | -12 | c.-46 others(21): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/13 | 456 | chr8 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135857024 | TCCTCCCT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp1 others(56): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0079a0001c0001t0001g0081a0001c0001t0001g0082others(56): Show | 59 | 142 | 0.4155 | -12 | c.21+ others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135857044 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0137 | 1 | 142 | 0.0070 | -12 | c.21+ others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135858472 | AAATTTCT others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02922.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0013 | a0001c0001t0001g0025a0003c0004t0013g0024 | 2 | 142 | 0.0141 | -12 | c.21+ others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135865615 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 142 | 0.0070 | -12 | c.21+ others(29): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135928489 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18906.hp2 |
a0001a0003 | a0001c0006a0003c0004 | a0001c0006t0028a0003c0004t0013 | a0001c0006t0028g0032a0003c0004t0013g0108 | 2 | 142 | 0.0141 | -12 | c.22- others(29): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135931951 | GCGCACAC others(5): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0008 | 1 | 142 | 0.0070 | -12 | c.22- others(29): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135935178 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0004 | a0003c0004t0013 | a0003c0004t0013g0024 | 1 | 142 | 0.0070 | -12 | c.22- others(29): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135948843 | CTAGATAG others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00741.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0027a0001c0001t0001g0060a0001c0001t0001g0076others(25): Show | 28 | 142 | 0.1972 | -12 | c.82+ others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135948888 | TAGATAGA others(5): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0019a0001c0002t0010others(1): Show | a0001c0001t0001g0019a0001c0001t0019g0141a0001c0002t0010g0069others(1): Show | 4 | 142 | 0.0282 | -12 | c.82+ others(27): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135994116 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03540.hp2 HG03579.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0031others(1): Show | a0001c0001t0001g0086a0001c0001t0001g0102a0001c0001t0004g0073others(2): Show | 5 | 142 | 0.0352 | -12 | c.82+ others(29): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 84993552 | TCCATGTA others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0329 | 1 | 344 | 0.0029 | -12 | c.186 others(31): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85009104 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0036a0001c0001t0001g0190a0001c0001t0001g0281others(2): Show | 5 | 344 | 0.0145 | -12 | c.186 others(31): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85014124 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02280.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282a0001c0001t0001g0283a0001c0001t0001g0284others(6): Show | 9 | 344 | 0.0262 | -12 | c.186 others(31): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85038214 | GGGGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0106a0001c0001t0006g0124 | 2 | 344 | 0.0058 | -12 | c.187 others(31): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85066583 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01167.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0002 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0020others(13): Show | 16 | 344 | 0.0465 | -12 | c.244 others(27): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85078548 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 HG01433.hp2 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0295a0001c0002t0001g0296a0001c0002t0001g0297others(35): Show | 38 | 344 | 0.1105 | -12 | c.546 others(29): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85123337 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA19010.hp1 NA19074.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0083 | 3 | 344 | 0.0087 | -12 | c.208 others(29): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDE8B_chr5_77205680_77433256 | 77303822 | TTGTTTAA others(5): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 314 | 0.0032 | -12 | c.340 others(29): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42699559 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02559.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0311a0001c0001t0001g0312a0001c0002t0001g0309others(1): Show | 4 | 324 | 0.0124 | -12 | c.262 others(27): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42726592 | CCATATAT others(5): Show |
C | intron_variant | MODIFIER | HG03209.hp2 NA18940.hp1 NA19063.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0177a0001c0001t0001g0184a0001c0003t0001g0198others(1): Show | 4 | 324 | 0.0124 | -12 | c.263 others(29): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42740092 | CATACATA others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 | 1 | 324 | 0.0031 | -12 | c.569 others(29): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42740573 | AGATGGAT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(90): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0044a0001c0001t0001g0073others(90): Show | 93 | 324 | 0.2870 | -12 | c.569 others(29): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42740755 | GGATAGAT others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0289 | 1 | 324 | 0.0031 | -12 | c.569 others(29): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42759390 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00735.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0079a0001c0003t0001g0098a0001c0003t0001g0202others(1): Show | 4 | 324 | 0.0124 | -12 | c.897 others(27): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDGFB_chr22_39218359_39249982 | 39220807 | GTGGATGG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0097 | 1 | 386 | 0.0026 | -12 | c.*45 others(23): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2551 | chr22 | TogoVar |