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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLCXD1_chrX_276381_308356 | 297717 | A | ACATGGGA others(41): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0072 | 1 | 172 | 0.0058 | 48 | c.734 others(65): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 297854 | T | TCTGTCTC others(41): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02257.hp2 NA19009.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0029a0001c0003t0015a0001c0003t0055 | a0001c0001t0029g0059 a0001c0003t0015g0009 a0001c0003t0055g0007 |
3 | 159 | 0.0189 | 48 | c.734 others(65): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242207878 | T | TTATATTT others(41): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01981.hp2 HG02622.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0028a0001c0001t0029a0001c0001t0050others(3): Show | a0001c0001t0028g0028 a0001c0001t0029g0033 a0001c0001t0050g0120 others(3): Show |
6 | 141 | 0.0426 | 48 | c.735 others(67): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242207892 | A | ATTTATAT others(41): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0181 | 1 | 160 | 0.0063 | 48 | c.735 others(67): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242393214 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02486.hp1 HG02523.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(3): Show | a0001c0001t0001g0003 a0001c0001t0006g0103 a0001c0001t0019g0058 others(4): Show |
7 | 165 | 0.0424 | 48 | c.190 others(67): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242393214 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 159 | 0.0063 | 48 | c.190 others(67): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242394989 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0049a0001c0001t0052a0001c0001t0081 | a0001c0001t0049g0115 a0001c0001t0052g0119 a0001c0001t0081g0180 |
3 | 154 | 0.0195 | 48 | c.190 others(67): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLEKHA5_chr12_19124733_19381400 | 19308897 | G | GCGCGCGC others(41): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0260 | 1 | 269 | 0.0037 | 48 | c.203 others(67): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19308897 | G | GCGCGTGC others(41): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02015.hp1 HG02074.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0059 a0001c0001t0001g0229 a0001c0001t0003g0017 others(12): Show |
15 | 283 | 0.0530 | 48 | c.203 others(67): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19308897 | G | GCGCGTGC others(41): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0026 | 1 | 269 | 0.0037 | 48 | c.203 others(67): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 15/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150810514 | A | AAAAGAAA others(41): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 212 | 0.0047 | 48 | c.127 others(65): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 193 | 0.0052 | 48 | c.212 others(67): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18612.hp1 NA18952.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0207 a0001c0001t0006g0319 a0001c0002t0001g0130 |
3 | 195 | 0.0154 | 48 | c.212 others(67): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01891.hp1 HG02071.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0015 | a0001c0002t0001a0001c0003t0001a0001c0015t0009 | a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0116 others(7): Show |
10 | 202 | 0.0495 | 48 | c.212 others(67): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 193 | 0.0052 | 48 | c.212 others(67): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | NA18991.hp1 NA19056.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 a0001c0002t0001g0194 |
2 | 194 | 0.0103 | 48 | c.212 others(67): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLG_chr6_160697244_160759097 | 160748350 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0309 | 1 | 193 | 0.0052 | 48 | c.212 others(67): Show |
PLG | ENSG00000122194.20 | transcript | ENST00000308192.14 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLIN4_chr19_4497192_4523486 | 4509316 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01517.hp1 HG02080.hp2 others(12): Show |
a0001a0007a0044 | a0001c0003a0001c0007a0001c0017others(4): Show | a0001c0003t0003a0001c0003t0004a0001c0007t0004others(5): Show | a0001c0003t0003g0146 a0001c0003t0004g0077 a0001c0003t0004g0108 others(10): Show |
15 | 381 | 0.0394 | 48 | c.351 others(65): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
PLIN5_chr19_4517531_4540224 | 4525837 | A | AGGACAGG others(41): Show |
splice_region_variant others(1): Show |
LOW | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 296 | 0.0034 | 48 | c.521 others(60): Show |
PLIN5 | ENSG00000214456.8 | transcript | ENST00000381848.7 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
PLK3_chr1_44795377_44810990 | 44795690 | T | TATAAATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 NA18990.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 380 | 0.0079 | 48 | c.-47 others(59): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4686 | chr1 | TogoVar | |||||||
PLK3_chr1_44795377_44810990 | 44795708 | T | TATATAAA others(41): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 312 | 0.0064 | 48 | c.-47 others(59): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4668 | chr1 | TogoVar | |||||||
PLK3_chr1_44795377_44810990 | 44796270 | A | AAATATAT others(41): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 301 | 0.0033 | 48 | c.-41 others(59): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4106 | chr1 | TogoVar | |||||||
PLK3_chr1_44795377_44810990 | 44797983 | A | AAAAAAAA others(41): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 125 | 0.0080 | 48 | c.-24 others(59): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 2393 | chr1 | TogoVar | |||||||
PLK3_chr1_44795377_44810990 | 44797983 | A | AAAAAAAA others(41): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 HG04184.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0002t0001g0007 |
2 | 126 | 0.0159 | 48 | c.-24 others(59): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 2393 | chr1 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 282325 | G | GGACGTGT others(41): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18945.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0120 |
3 | 315 | 0.0095 | 48 | c.541 others(61): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 282486 | G | GCCTGCCA others(41): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0015 | 2 | 341 | 0.0059 | 48 | c.540 others(63): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56551279 | G | GTTTGGTT others(41): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 250 | 0.0040 | 48 | c.140 others(67): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56551279 | G | GTTTGGTT others(41): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0269 | 1 | 250 | 0.0040 | 48 | c.140 others(67): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557048 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0299 | 1 | 182 | 0.0055 | 48 | c.140 others(67): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557052 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01346.hp2 HG01516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0131 a0001c0001t0002g0115 a0001c0001t0003g0026 others(2): Show |
5 | 163 | 0.0307 | 48 | c.140 others(67): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56557056 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01168.hp2 HG01192.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0100 others(10): Show |
13 | 100 | 0.1300 | 48 | c.140 others(67): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLPPR1_chr9_101023727_101330135 | 101078102 | G | GAGAAGGA others(41): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0098 | 1 | 132 | 0.0076 | 48 | c.-46 others(67): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLPPR1_chr9_101023727_101330135 | 101078102 | G | GAGAAGGA others(41): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0148 | 1 | 132 | 0.0076 | 48 | c.-46 others(67): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349153 | T | TCTTTCTT others(41): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0103 | 1 | 429 | 0.0023 | 48 | c.*32 others(59): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2301 | chr19 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17349157 | T | TCTTTCTT others(41): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0303 |
2 | 420 | 0.0048 | 48 | c.*32 others(59): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2297 | chr19 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17349161 | T | TCTTTCTT others(41): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0411 | 1 | 433 | 0.0023 | 48 | c.*32 others(59): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2293 | chr19 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39129711 | G | GGAAAGAA others(41): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18969.hp2 NA18985.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0150 others(2): Show |
5 | 105 | 0.0476 | 48 | c.255 others(65): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 19966359 | A | ACACATAT others(41): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 HG02486.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0051a0001c0001t0060a0001c0001t0068others(12): Show | a0001c0001t0051g0179 a0001c0001t0060g0073 a0001c0001t0068g0173 others(13): Show |
16 | 178 | 0.0899 | 48 | c.113 others(67): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 19973314 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02717.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0029a0001c0001t0045others(5): Show | a0001c0001t0001g0132 a0001c0001t0029g0002 a0001c0001t0045g0061 others(5): Show |
8 | 85 | 0.0941 | 48 | c.113 others(67): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0006 | a0006c0007 | a0006c0007t0108 | a0006c0007t0108g0054 | 1 | 134 | 0.0075 | 48 | c.131 others(67): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0053 | a0002c0002t0053g0137 | 1 | 134 | 0.0075 | 48 | c.131 others(67): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20238687 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01891.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0007others(4): Show | a0002c0002t0002g0112 a0002c0002t0006g0014 a0002c0002t0006g0149 others(5): Show |
8 | 141 | 0.0567 | 48 | c.131 others(67): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50307773 | G | GGAGGGGG others(41): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0221 | 1 | 102 | 0.0098 | 48 | c.-29 others(57): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 128 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50307775 | A | AGGGGGGA others(41): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0293 | 1 | 299 | 0.0033 | 48 | c.-29 others(57): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 130 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50307831 | G | GAAGAGGG others(41): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0154 | 1 | 289 | 0.0035 | 48 | c.-35 others(57): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 186 | chr22 | TogoVar | |||||||
PM20D2_chr6_89141055_89170565 | 89154943 | T | TACATATA others(41): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19005.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0051 a0002c0002t0006g0052 |
2 | 370 | 0.0054 | 48 | c.912 others(61): Show |
PM20D2 | ENSG00000146281.6 | transcript | ENST00000275072.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(41): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0057 |
2 | 201 | 0.0100 | 48 | c.-45 others(59): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(41): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0113 |
2 | 201 | 0.0100 | 48 | c.-45 others(59): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(41): Show |
upstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 200 | 0.0050 | 48 | c.-45 others(59): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | |||||||
PMM1_chr22_41571900_41594840 | 41594338 | T | TGGGGGGG others(41): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 243 | 0.0041 | 48 | c.-45 others(59): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4499 | chr22 | TogoVar |