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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHA8_chr5_140836187_141017347 | 140946631 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02809.hp1 HG03225.hp1 others(1): Show |
a0006a0008a0010 | a0006c0006a0008c0013a0010c0009 | a0006c0006t0005a0008c0013t0008a0010c0009t0001 | a0006c0006t0005g0141 a0006c0006t0005g0142 a0008c0013t0008g0167 others(1): Show |
4 | 258 | 0.0155 | 28 | c.239 others(49): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140941202 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0137 | 1 | 256 | 0.0039 | 28 | c.239 others(49): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140941214 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02148.hp2 |
a0004a0010 | a0004c0003a0010c0011 | a0004c0003t0008a0010c0011t0001 | a0004c0003t0008g0005 a0010c0011t0001g0007 |
2 | 256 | 0.0078 | 28 | c.239 others(49): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140946611 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0147 a0002c0002t0001g0093 |
2 | 256 | 0.0078 | 28 | c.239 others(49): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140946631 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18522.hp1 |
a0003a0026 | a0003c0035a0026c0032 | a0003c0035t0002a0026c0032t0003 | a0003c0035t0002g0001 a0026c0032t0003g0216 |
2 | 256 | 0.0078 | 28 | c.239 others(49): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140946631 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02809.hp2 HG03225.hp2 others(1): Show |
a0001a0008a0009 | a0001c0005a0008c0010a0009c0008 | a0001c0005t0001a0008c0010t0005a0009c0008t0006 | a0001c0005t0001g0044 a0008c0010t0005g0224 a0008c0010t0005g0225 others(1): Show |
4 | 256 | 0.0156 | 28 | c.239 others(49): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140941202 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0263 | 1 | 280 | 0.0036 | 28 | c.243 others(49): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140941202 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0014 | a0014c0022 | a0014c0022t0001 | a0014c0022t0001g0009 | 1 | 280 | 0.0036 | 28 | c.243 others(49): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140941214 | C | CCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02148.hp2 |
a0002 | a0002c0001a0002c0006 | a0002c0001t0016a0002c0006t0003 | a0002c0001t0016g0006 a0002c0006t0003g0052 |
2 | 280 | 0.0071 | 28 | c.243 others(49): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140946611 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0008 | a0001c0003t0002g0279 a0001c0003t0008g0238 |
2 | 280 | 0.0071 | 28 | c.243 others(49): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140946631 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18522.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0003t0014 | a0001c0002t0005g0208 a0001c0003t0014g0217 |
2 | 280 | 0.0071 | 28 | c.243 others(49): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140946631 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02809.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0010a0001c0003t0002a0001c0004t0001 | a0001c0002t0010g0150 a0001c0002t0010g0177 a0001c0003t0002g0242 others(1): Show |
4 | 280 | 0.0143 | 28 | c.243 others(49): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHB11_chr5_141194627_141208779 | 141204212 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02559.hp2 NA20300.hp1 |
a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0000 | 3 | 444 | 0.0068 | 28 | c.*20 others(39): Show |
PCDHB11 | ENSG00000197479.7 | transcript | ENST00000354757.5 | protein_coding | 434 | chr5 | TogoVar | |||||||
PCDHB12_chr5_141203719_141217571 | 141204212 | C | CAAAAAAA others(21): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02559.hp2 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0000 | 3 | 432 | 0.0069 | 28 | c.-46 others(39): Show |
PCDHB12 | ENSG00000120328.6 | transcript | ENST00000239450.4 | protein_coding | 4506 | chr5 | TogoVar | |||||||
PCDHB13_chr5_141208919_141223979 | 141221429 | G | GTATATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG01192.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0000 | 9 | 428 | 0.0210 | 28 | c.*49 others(39): Show |
PCDHB13 | ENSG00000187372.11 | transcript | ENST00000341948.6 | protein_coding | 2451 | chr5 | TogoVar | |||||||
PCDHB13_chr5_141208919_141223979 | 141221429 | G | GTGTATAT others(21): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0007 | a0007c0007 | a0007c0007t0012 | a0007c0007t0012g0000 | 1 | 428 | 0.0023 | 28 | c.*49 others(39): Show |
PCDHB13 | ENSG00000187372.11 | transcript | ENST00000341948.6 | protein_coding | 2451 | chr5 | TogoVar | |||||||
PCDHB14_chr5_141218343_141232759 | 141221429 | G | GTATATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01175.hp2 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0025 | a0001c0004t0004g0000 a0001c0004t0025g0000 |
9 | 448 | 0.0201 | 28 | c.-20 others(39): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 1913 | chr5 | TogoVar | |||||||
PCDHB14_chr5_141218343_141232759 | 141221429 | G | GTGTATAT others(21): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0018 | a0018c0019 | a0018c0019t0003 | a0018c0019t0003g0000 | 1 | 448 | 0.0022 | 28 | c.-20 others(39): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 1913 | chr5 | TogoVar | |||||||
PCDHGA1_chr5_141325514_141517975 | 141347137 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0021 a0001c0002t0002g0020 |
2 | 268 | 0.0075 | 28 | c.242 others(49): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA1_chr5_141325514_141517975 | 141347137 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01346.hp1 HG01433.hp1 others(15): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0074 a0001c0001t0002g0062 a0001c0001t0002g0063 others(15): Show |
18 | 268 | 0.0672 | 28 | c.242 others(49): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141347137 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0175 a0001c0001t0002g0174 |
2 | 272 | 0.0074 | 28 | c.242 others(47): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141347137 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01346.hp2 HG01433.hp1 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0003g0057 others(15): Show |
18 | 272 | 0.0662 | 28 | c.242 others(47): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141347137 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0002g0024 |
2 | 270 | 0.0074 | 28 | c.242 others(45): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141347137 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01346.hp2 others(16): Show |
a0001a0003a0012 | a0001c0001a0001c0005a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0250 a0001c0001t0002g0234 a0001c0001t0002g0244 others(16): Show |
19 | 270 | 0.0704 | 28 | c.242 others(45): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB1_chr5_141345099_141517975 | 141347137 | C | CTCTCTCT others(21): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0100 a0001c0001t0003g0111 |
2 | 278 | 0.0072 | 28 | c.-31 others(39): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 2961 | chr5 | TogoVar | |||||||
PCDHGB1_chr5_141345099_141517975 | 141347137 | C | CTCTTTCT others(21): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01123.hp1 HG01346.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0138 a0001c0001t0002g0221 a0001c0001t0002g0240 others(19): Show |
22 | 278 | 0.0791 | 28 | c.-31 others(39): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 2961 | chr5 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(21): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 436 | 0.0046 | 28 | c.-26 others(39): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 749476 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 366 | 0.0027 | 28 | c.462 others(45): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF5_chr10_91215663_91289337 | 91238581 | A | ATTTCTTT others(21): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0013 | a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0008g0196 others(1): Show |
4 | 318 | 0.0126 | 28 | c.113 others(45): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCGF6_chr10_103297796_103356140 | 103302452 | G | GTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 372 | 0.0027 | 28 | c.*14 others(39): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 343 | chr10 | TogoVar | |||||||
PCIF1_chr20_45929683_45953020 | 45945071 | A | AGCTCTAT others(21): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 422 | 0.0024 | 28 | c.116 others(43): Show |
PCIF1 | ENSG00000100982.12 | transcript | ENST00000372409.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCLAF_chr15_64359304_64386441 | 64377488 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 298 | 0.0034 | 28 | c.128 others(43): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83037989 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0041 | a0041c0104 | a0041c0104t0001 | a0041c0104t0001g0062 | 1 | 188 | 0.0053 | 28 | c.330 others(49): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02300.hp2 |
a0001a0002 | a0001c0003a0002c0011 | a0001c0003t0019a0002c0011t0001 | a0001c0003t0019g0021 a0002c0011t0001g0163 |
2 | 188 | 0.0106 | 28 | c.330 others(49): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83059357 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0005 | a0005c0040 | a0005c0040t0004 | a0005c0040t0004g0044 | 1 | 188 | 0.0053 | 28 | c.330 others(49): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83093472 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0046 | a0046c0035 | a0046c0035t0016 | a0046c0035t0016g0051 | 1 | 188 | 0.0053 | 28 | c.330 others(49): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83134218 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0020 | a0020c0117 | a0020c0117t0030 | a0020c0117t0030g0152 | 1 | 188 | 0.0053 | 28 | c.330 others(43): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83134242 | T | TATATATA others(21): Show |
splice_region_variant others(1): Show |
LOW | HG01361.hp2 HG02300.hp2 NA18953.hp2 |
a0002 | a0002c0005a0002c0011 | a0002c0005t0028a0002c0011t0001 | a0002c0005t0028g0153 a0002c0011t0001g0163 a0002c0011t0001g0164 |
3 | 188 | 0.0160 | 28 | c.330 others(41): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCMT1_chr6_149744741_149816419 | 149762689 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 334 | 0.0030 | 28 | c.56- others(43): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 a0002c0002t0001g0147 |
2 | 424 | 0.0047 | 28 | c.354 others(45): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910070 | T | TCCCCCTC others(21): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 352 | 0.0028 | 28 | c.153 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910154 | C | CCCCTCCC others(21): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0100 | 1 | 352 | 0.0028 | 28 | c.153 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70949146 | A | ATGTGTAT others(21): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0022 | a0001c0022t0010 | a0001c0022t0010g0210 | 1 | 352 | 0.0028 | 28 | c.362 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70949254 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0085 | 1 | 352 | 0.0028 | 28 | c.362 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70994396 | G | GATAGATA others(21): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0200 | 1 | 352 | 0.0028 | 28 | c.244 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70994396 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG01175.hp1 NA18951.hp2 NA18967.hp2 others(6): Show |
a0001a0020 | a0001c0001a0001c0022a0020c0021 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0148 a0001c0001t0001g0170 a0001c0001t0004g0153 others(6): Show |
9 | 352 | 0.0256 | 28 | c.244 others(47): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01109.hp1 others(22): Show |
a0001a0018 | a0001c0002a0018c0032 | a0001c0002t0003a0001c0002t0005a0001c0002t0006others(7): Show | a0001c0002t0003g0277 a0001c0002t0003g0292 a0001c0002t0003g0296 others(22): Show |
25 | 352 | 0.0710 | 28 | c.*94 others(39): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | |||||||
PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(21): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0081 | 1 | 342 | 0.0029 | 28 | c.-50 others(39): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | |||||||
PCOLCE_chr7_100597363_100613175 | 100607090 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 332 | 0.0030 | 28 | c.941 others(43): Show |
PCOLCE | ENSG00000106333.13 | transcript | ENST00000223061.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17333910 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG02056.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0120 a0001c0001t0001g0178 a0001c0001t0001g0189 others(7): Show |
10 | 274 | 0.0365 | 28 | c.283 others(47): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |