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 | 83096862 | T | TATATTAT others(29): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG02897.hp1 others(4): Show |
a0007a0039a0060 | a0007c0008a0007c0073a0039c0047others(1): Show | a0007c0008t0003a0007c0073t0003a0039c0047t0011others(1): Show | a0007c0008t0003g0119a0007c0008t0003g0120a0007c0008t0003g0182others(4): Show | 7 | 188 | 0.0372 | 36 | c.330 others(57): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83166176 | T | TTACCCAG others(29): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0182 | 1 | 188 | 0.0053 | 36 | c.-35 others(47): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3293 | chr7 | TogoVar | ||||||
PCM1_chr8_17917988_18034948 | 18018861 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01934.hp2 HG02451.hp1 |
a0003a0030 | a0003c0003a0030c0041 | a0003c0003t0026a0003c0003t0046a0030c0041t0026 | a0003c0003t0026g0271a0003c0003t0046g0259a0030c0041t0026g0270 | 3 | 368 | 0.0082 | 36 | c.584 others(55): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PCMT1_chr6_149744741_149816419 | 149762548 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0098 | 1 | 334 | 0.0030 | 36 | c.56- others(51): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910064 | C | CCCTCCTC others(29): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01261.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0224a0001c0001t0001g0227a0001c0001t0001g0228others(6): Show | 9 | 352 | 0.0256 | 36 | c.153 others(53): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71068339 | T | TATATATG others(29): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18991.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0169a0001c0001t0001g0170a0001c0001t0004g0153 | 3 | 352 | 0.0085 | 36 | c.485 others(55): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 26/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(29): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0314 | 1 | 352 | 0.0028 | 36 | c.*94 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | ||||||
PCNX3_chr11_65610776_65642439 | 65638048 | C | CGGCCCCG others(29): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 396 | 0.0025 | 36 | c.*10 others(47): Show |
PCNX3 | ENSG00000197136.5 | transcript | ENST00000355703.4 | protein_coding | 610 | chr11 | TogoVar | ||||||
PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(29): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 342 | 0.0029 | 36 | c.-50 others(47): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17333910 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02129.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0164a0001c0001t0001g0264a0001c0001t0001g0265others(1): Show | 4 | 274 | 0.0146 | 36 | c.283 others(55): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347816 | G | GAAAGAAA others(29): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0095 | 1 | 274 | 0.0037 | 36 | c.283 others(55): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17449526 | G | GTGTATAT others(29): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0011g0020others(2): Show | 5 | 274 | 0.0183 | 36 | c.886 others(53): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76351515 | A | AGAAGGAA others(29): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01934.hp1 |
a0001a0011 | a0001c0054a0011c0007 | a0001c0054t0010a0011c0007t0034 | a0001c0054t0010g0095a0011c0007t0034g0096 | 2 | 166 | 0.0121 | 36 | c.506 others(53): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01168.hp1 others(13): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0023a0001c0001t0002g0035a0001c0001t0002g0317others(11): Show | 16 | 460 | 0.0348 | 36 | c.153 others(55): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 460 | 0.0022 | 36 | c.153 others(55): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 460 | 0.0022 | 36 | c.153 others(55): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCYOX1L_chr5_149353046_149374653 | 149370033 | T | TTTTTTTT others(29): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 372 | 0.0054 | 36 | c.*13 others(47): Show |
PCYOX1L | ENSG00000145882.11 | transcript | ENST00000274569.9 | protein_coding | 381 | chr5 | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0100 | 1 | 260 | 0.0039 | 36 | c.117 others(53): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAATA others(29): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0191 | 1 | 260 | 0.0039 | 36 | c.117 others(53): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAATATA others(29): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0070 | 1 | 260 | 0.0039 | 36 | c.117 others(53): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637509 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0095 | 1 | 260 | 0.0039 | 36 | c.117 others(53): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637509 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0008 | 1 | 260 | 0.0039 | 36 | c.117 others(53): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 317966 | T | TCCCAACC others(29): Show |
downstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 360 | 0.0028 | 36 | c.*34 others(47): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2993 | chr5 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177663244 | G | GTAGCAGA others(29): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02818.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0014a0001c0001t0054a0001c0003t0014others(5): Show | a0001c0001t0014g0051a0001c0001t0014g0063a0001c0001t0054g0050others(6): Show | 9 | 170 | 0.0529 | 36 | c.264 others(53): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177881324 | C | CTATCTAT others(29): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0024 | a0001c0024t0017 | a0001c0024t0017g0044 | 1 | 170 | 0.0059 | 36 | c.130 others(55): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 4/19 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177944822 | C | CTCTCCCT others(29): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01243.hp2 others(2): Show |
a0001a0002a0012 | a0001c0003a0002c0004a0002c0020others(1): Show | a0001c0003t0024a0002c0004t0001a0002c0004t0004others(2): Show | a0001c0003t0024g0110a0002c0004t0001g0109a0002c0004t0004g0111others(2): Show | 5 | 170 | 0.0294 | 36 | c.107 others(57): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
PDE1A_chr2_182135041_182432036 | 182264878 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01517.hp1 HG01952.hp2 others(10): Show |
a0001a0003a0005 | a0001c0001a0003c0005a0005c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0164a0001c0001t0001g0177a0001c0001t0003g0239others(10): Show | 13 | 264 | 0.0492 | 36 | c.54- others(49): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31794085 | C | CAGATAGA others(29): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0245 | 1 | 262 | 0.0038 | 36 | c.189 others(57): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 16/17 | chr7 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14749899 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01891.hp1 HG02071.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0015 | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(1): Show | a0001c0001t0001g0130a0001c0001t0001g0136a0001c0001t0001g0201others(9): Show | 12 | 332 | 0.0361 | 36 | c.979 others(55): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDE3B_chr11_14638804_14877044 | 14749910 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0204 | 1 | 332 | 0.0030 | 36 | c.979 others(55): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 65887247 | T | TTTCTTTC others(29): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 118 | 0.0085 | 36 | c.-70 others(55): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE5A_chr4_119489403_119633804 | 119632087 | G | GATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02602.hp2 NA18993.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003a0002c0003t0010others(1): Show | a0001c0001t0001g0210a0001c0001t0001g0262a0002c0003t0003g0272others(2): Show | 5 | 336 | 0.0149 | 36 | c.-34 others(47): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3284 | chr4 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149900375 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG01981.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0003g0088a0001c0001t0004g0041a0001c0001t0009g0078others(3): Show | 6 | 328 | 0.0183 | 36 | c.111 others(53): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 8/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149900375 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0034 | a0001c0034t0003 | a0001c0034t0003g0319 | 1 | 328 | 0.0031 | 36 | c.111 others(53): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 8/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0220 | 1 | 328 | 0.0031 | 36 | c.858 others(53): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0011 | a0002c0011t0007 | a0002c0011t0007g0207 | 1 | 328 | 0.0031 | 36 | c.858 others(53): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 651737 | G | GGAGCCGT others(29): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03130.hp2 HG03579.hp2 others(1): Show |
a0001a0013 | a0001c0005a0013c0019 | a0001c0005t0001a0013c0019t0001 | a0001c0005t0001g0260a0001c0005t0001g0261a0001c0005t0001g0262others(1): Show | 4 | 308 | 0.0130 | 36 | c.712 others(53): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135928489 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02717.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0024others(1): Show | a0001c0001t0001g0016a0001c0001t0019g0141a0001c0001t0024g0080others(1): Show | 4 | 142 | 0.0282 | 36 | c.22- others(53): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135935186 | T | TTTTATAT others(29): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0022a0001c0001t0005g0012 | 2 | 142 | 0.0141 | 36 | c.22- others(53): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135935186 | T | TTTTATAT others(29): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01175.hp2 HG01928.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0076a0001c0001t0001g0133others(3): Show | 6 | 142 | 0.0423 | 36 | c.22- others(53): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135948020 | A | ATCATTTG others(29): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0002 | 1 | 142 | 0.0070 | 36 | c.82+ others(49): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 136148466 | A | AAGGCAGG others(29): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135 | 1 | 142 | 0.0070 | 36 | c.319 others(51): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE8A_chr15_84976856_85144142 | 85119468 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18975.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0343a0001c0002t0001g0344 | 2 | 344 | 0.0058 | 36 | c.173 others(55): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDGFD_chr11_103902189_104169147 | 104082133 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 200 | 0.0050 | 36 | c.124 others(55): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17577082 | T | TAAAAAAA others(29): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0329 | 1 | 400 | 0.0025 | 36 | c.-17 others(45): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 133 | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17590236 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 400 | 0.0025 | 36 | c.353 others(51): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDIA2_chr16_278164_292215 | 281311 | G | GGGGGGCC others(29): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02257.hp1 others(7): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0019a0003c0008others(2): Show | a0001c0001t0001a0001c0019t0001a0003c0008t0001others(3): Show | a0001c0001t0001g0002a0001c0019t0001g0148a0003c0008t0001g0024others(4): Show | 10 | 436 | 0.0229 | 36 | c.-18 others(47): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 1852 | chr16 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285966 | T | TCCCAACC others(29): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0019 | a0019c0040 | a0019c0040t0001 | a0019c0040t0001g0105 | 1 | 436 | 0.0023 | 36 | c.111 others(53): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDIA5_chr3_123062025_123167104 | 123117374 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0295a0001c0001t0001g0321a0001c0002t0001g0121others(3): Show | 6 | 332 | 0.0181 | 36 | c.609 others(53): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDIA6_chr2_10778391_10817785 | 10805994 | G | GGCACATG others(29): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(136): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0005a0002c0002others(4): Show | a0001c0003t0001a0001c0003t0006a0001c0003t0008others(9): Show | a0001c0003t0001g0019a0001c0003t0001g0020a0001c0003t0001g0021others(129): Show | 139 | 342 | 0.4064 | 36 | c.20- others(51): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar |