view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(41): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 9 | 0.1111 | 48 | c.285 others(71): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(41): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 9 | 0.1111 | 48 | c.285 others(71): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53855904 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0019 | a0019c0019 | a0019c0019t0015 | a0019c0019t0015g0001 | 1 | 22 | 0.0455 | 48 | c.380 others(67): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 28/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54436070 | A | AGAAAGAA others(41): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0033 | a0033c0037 | a0033c0037t0013 | a0033c0037t0013g0064 | 1 | 93 | 0.0108 | 48 | c.158 others(67): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53855904 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0014 | a0014c0023 | a0014c0023t0006 | a0014c0023t0006g0001 | 1 | 21 | 0.0476 | 48 | c.380 others(67): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 28/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54436070 | A | AGAAAGAA others(41): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0027 | a0027c0042 | a0027c0042t0004 | a0027c0042t0004g0060 | 1 | 85 | 0.0118 | 48 | c.158 others(67): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100333174 | G | GAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0015 | 1 | 108 | 0.0093 | 48 | c.284 others(67): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 30960151 | A | AAGGAAGG others(41): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 39 | 0.0256 | 48 | c.339 others(69): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 731701 | C | CTCCTCCC others(41): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0074 | 1 | 358 | 0.0028 | 48 | c.-10 others(63): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 731900 | C | CCTCCCCT others(41): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18612.hp1 NA18982.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0033others(1): Show | a0001c0001t0001g0011 a0001c0001t0003g0028 a0001c0001t0003g0029 others(2): Show |
5 | 363 | 0.0138 | 48 | c.-10 others(63): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 731948 | C | CTCCTCCC others(41): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0047 a0001c0001t0003g0016 a0001c0001t0003g0017 others(38): Show |
42 | 363 | 0.1157 | 48 | c.-10 others(63): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 758904 | T | TCCCGAGT others(41): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0014a0001c0001t0022others(3): Show | a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0065 others(13): Show |
16 | 364 | 0.0440 | 48 | c.463 others(65): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759593 | T | TCCCGAGT others(41): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG00741.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0030others(2): Show | a0001c0001t0006g0007 a0001c0001t0006g0085 a0001c0001t0006g0086 others(12): Show |
15 | 343 | 0.0437 | 48 | c.463 others(65): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCLAF_chr15_64359304_64386441 | 64362768 | A | ATTTTTTT others(41): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0246 | 1 | 62 | 0.0161 | 48 | c.*32 others(59): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 1535 | chr15 | TogoVar | |||||||
PCMT1_chr6_149744741_149816419 | 149762956 | G | GTATATCT others(41): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG03710.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0054 a0002c0002t0002g0080 a0002c0002t0002g0087 |
3 | 99 | 0.0303 | 48 | c.56- others(63): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910049 | T | TCCTCCTC others(41): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0017 | a0017c0019 | a0017c0019t0008 | a0017c0019t0008g0118 | 1 | 301 | 0.0033 | 48 | c.153 others(65): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910064 | C | CCCTCCTC others(41): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0010 | a0010c0025 | a0010c0025t0004 | a0010c0025t0004g0218 | 1 | 257 | 0.0039 | 48 | c.153 others(65): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910103 | T | TCCTCCTC others(41): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03041.hp1 |
a0006 | a0006c0009 | a0006c0009t0008a0006c0009t0015 | a0006c0009t0008g0213 a0006c0009t0015g0145 |
2 | 316 | 0.0063 | 48 | c.153 others(65): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCP4_chr21_39862438_39934392 | 39914056 | A | ACCAAAGA others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(351): Show |
358 | 425 | 0.8424 | 48 | c.62- others(65): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76351523 | A | AGAAAGAA others(41): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01346.hp1 |
a0003a0009 | a0003c0005a0009c0059 | a0003c0005t0002a0003c0005t0011a0009c0059t0002 | a0003c0005t0002g0100 a0003c0005t0011g0094 a0009c0059t0002g0141 |
3 | 149 | 0.0201 | 48 | c.506 others(65): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76351523 | A | AGAAAGAA others(41): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0009 | a0009c0021 | a0009c0021t0002 | a0009c0021t0002g0151 | 1 | 147 | 0.0068 | 48 | c.506 others(65): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101412691 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0041 | 1 | 260 | 0.0038 | 48 | c.824 others(67): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 6/21 | chr15 | TogoVar | |||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0004 | a0004c0013 | a0004c0013t0002 | a0004c0013t0002g0317 | 1 | 167 | 0.0060 | 48 | c.153 others(67): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | |||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0176 | 1 | 167 | 0.0060 | 48 | c.153 others(67): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | |||||||
PCYOX1L_chr5_149353046_149374653 | 149370033 | T | TTTTTTTT others(41): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 272 | 0.0037 | 48 | c.*13 others(59): Show |
PCYOX1L | ENSG00000145882.11 | transcript | ENST00000274569.9 | protein_coding | 381 | chr5 | TogoVar | |||||||
PCYT1A_chr3_196229368_196292726 | 196250021 | C | CCAGATAC others(41): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0162 | 1 | 308 | 0.0032 | 48 | c.218 others(65): Show |
PCYT1A | ENSG00000161217.12 | transcript | ENST00000431016.6 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66903791 | T | TATATACA others(41): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0111 | 1 | 266 | 0.0038 | 48 | c.1-3 others(63): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165422300 | C | CGCATACA others(41): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01516.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0119 a0001c0002t0006g0141 |
2 | 210 | 0.0095 | 48 | c.165 others(67): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 10/21 | chr6 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177946493 | C | CTGGGAGG others(41): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02818.hp2 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0009others(1): Show | a0001c0003t0049a0001c0003t0052a0001c0005t0015others(2): Show | a0001c0003t0049g0143 a0001c0003t0052g0029 a0001c0005t0015g0012 others(2): Show |
5 | 167 | 0.0299 | 48 | c.107 others(69): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182264878 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0002 | 1 | 65 | 0.0154 | 48 | c.54- others(61): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31794089 | C | CAGACAGA others(41): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0023 | 1 | 134 | 0.0075 | 48 | c.189 others(69): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 16/17 | chr7 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20386144 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0140 | a0002c0002t0140g0085 | 1 | 159 | 0.0063 | 48 | c.960 others(67): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14749899 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02155.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0141 |
2 | 84 | 0.0238 | 48 | c.979 others(67): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 511390 | A | AAGGGGGA others(41): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0224 | 1 | 272 | 0.0037 | 48 | c.266 others(63): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511400 | C | CTAGTCCA others(41): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0055a0002c0008t0104 | a0001c0002t0055g0018 a0002c0008t0104g0143 |
2 | 267 | 0.0075 | 48 | c.266 others(63): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39220555 | G | GTGGATGG others(41): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 NA19030.hp1 |
a0001 | a0001c0003 | a0001c0003t0017a0001c0003t0023 | a0001c0003t0017g0043 a0001c0003t0023g0075 |
2 | 95 | 0.0211 | 48 | c.*47 others(59): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2803 | chr22 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156825590 | T | TAAGAAGA others(41): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 126 | 0.0079 | 48 | c.315 others(67): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156825593 | T | TAAGAAGA others(41): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 1 | 78 | 0.0128 | 48 | c.315 others(67): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103985078 | T | TATTTATT others(41): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0021a0001c0002t0005 | a0001c0001t0002g0109 a0001c0001t0021g0199 a0001c0002t0005g0094 others(2): Show |
5 | 96 | 0.0521 | 48 | c.510 others(67): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103985078 | T | TATTTATT others(41): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(5): Show | a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0035 others(44): Show |
47 | 138 | 0.3406 | 48 | c.510 others(67): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103985118 | A | AATATATT others(41): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 194 | 0.0052 | 48 | c.510 others(67): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104084787 | A | ATATAAAA others(41): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 92 | 0.0109 | 48 | c.124 others(67): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104119390 | A | ATATTGAT others(41): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01361.hp2 HG03041.hp1 |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0005 | a0001c0002t0001a0002c0003t0006a0003c0005t0002 | a0001c0002t0001g0076 a0002c0003t0006g0182 a0003c0005t0002g0187 |
3 | 72 | 0.0417 | 48 | c.124 others(67): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAGACAGA others(41): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03490.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0016a0001c0005t0003 | a0001c0003t0016g0283 a0001c0005t0003g0128 a0001c0005t0003g0129 others(1): Show |
4 | 205 | 0.0195 | 48 | c.20- others(63): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAGACAGA others(41): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0126 | 1 | 202 | 0.0050 | 48 | c.20- others(63): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39842909 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 21 | 0.0476 | 48 | c.354 others(65): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741326 | C | CGGGGGGG others(41): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0219 | 1 | 303 | 0.0033 | 48 | c.143 others(63): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31689330 | C | CATATGCA others(41): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0029 | a0004c0029t0049 | a0004c0029t0049g0001 | 1 | 211 | 0.0047 | 48 | c.-36 others(69): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ACATATGC others(41): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0068 | 1 | 30 | 0.0333 | 48 | c.-36 others(69): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31850261 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01071.hp2 others(5): Show |
a0001a0002a0031 | a0001c0001a0001c0022a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0035a0001c0022t0001others(2): Show | a0001c0001t0001g0134 a0001c0001t0001g0190 a0001c0001t0001g0191 others(5): Show |
8 | 214 | 0.0374 | 48 | c.476 others(67): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |