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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTCD1_chr7_99411739_99443798 | 99440674 | A | ATATATAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0195 | 1 | 380 | 0.0026 | 24 | c.-20 others(35): Show |
PTCD1 | ENSG00000106246.18 | transcript | ENST00000292478.9 | protein_coding | 1877 | chr7 | TogoVar | |||||||
PTCH2_chr1_44816938_44848253 | 44830587 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01943.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0109 others(1): Show |
6 | 370 | 0.0162 | 24 | c.813 others(39): Show |
PTCH2 | ENSG00000117425.14 | transcript | ENST00000372192.4 | protein_coding | 6/21 | chr1 | TogoVar | |||||||
PTCHD1_chrX_23329849_23409374 | 23394409 | G | GACACACA others(17): Show |
3_prime_UTR_variant | MODIFIER | NA18612.hp1 NA19076.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0057a0001c0002t0058 | a0001c0001t0057g0262 a0001c0002t0058g0026 |
2 | 297 | 0.0067 | 24 | c.*24 others(33): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 3/3 | 267 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PTCHD1_chrX_23329849_23409374 | 23401023 | T | TTGTGTGT others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0154 | a0001c0001t0154g0246 | 1 | 297 | 0.0034 | 24 | c.*68 others(35): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 3/3 | 6874 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PTCHD4_chr6_47851673_48116197 | 47882741 | G | GAGATATA others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02717.hp2 HG04204.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0038a0001c0001t0093others(2): Show | a0001c0001t0030g0033 a0001c0001t0038g0035 a0001c0001t0093g0168 others(2): Show |
5 | 182 | 0.0275 | 24 | c.899 others(41): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PTCHD4_chr6_47851673_48116197 | 47882741 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02647.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0029a0001c0001t0035a0001c0004t0012 | a0001c0001t0029g0088 a0001c0001t0035g0009 a0001c0004t0012g0073 |
3 | 182 | 0.0165 | 24 | c.899 others(41): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PTCHD4_chr6_47851673_48116197 | 48098318 | T | TTTCTTCT others(17): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03540.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0050a0001c0002t0020a0001c0002t0060 | a0001c0001t0050g0101 a0001c0002t0020g0100 a0001c0002t0020g0102 others(1): Show |
4 | 182 | 0.0220 | 24 | c.-97 others(45): Show |
PTCHD4 | ENSG00000244694.8 | transcript | ENST00000339488.9 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
PTER_chr10_16432010_16518745 | 16452194 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 378 | 0.0027 | 24 | c.-49 others(43): Show |
PTER | ENSG00000165983.15 | transcript | ENST00000535784.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTER_chr10_16432010_16518745 | 16477304 | A | ATAGATAG others(17): Show |
intron_variant | MODIFIER | HG02809.hp2 NA19030.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0022 | a0001c0002t0002g0311 a0001c0003t0022g0214 |
2 | 378 | 0.0053 | 24 | c.-48 others(41): Show |
PTER | ENSG00000165983.15 | transcript | ENST00000535784.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTGER3_chr1_70965782_71052816 | 70996639 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0185 |
3 | 372 | 0.0081 | 24 | c.107 others(45): Show |
PTGER3 | ENSG00000050628.21 | transcript | ENST00000306666.10 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PTGER3_chr1_70965782_71052816 | 71025131 | C | CCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0106 | 1 | 372 | 0.0027 | 24 | c.898 others(43): Show |
PTGER3 | ENSG00000050628.21 | transcript | ENST00000306666.10 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PTGES2_chr9_128115693_128132729 | 128118804 | A | AGGAGGGG others(17): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02647.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0002c0002t0001g0006 |
3 | 366 | 0.0082 | 24 | c.*23 others(35): Show |
PTGES2 | ENSG00000148334.16 | transcript | ENST00000338961.11 | protein_coding | 1888 | chr9 | TogoVar | |||||||
PTGES2_chr9_128115693_128132729 | 128118835 | G | GTGCAGGG others(17): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01099.hp1 HG01258.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 others(7): Show |
17 | 366 | 0.0465 | 24 | c.*23 others(35): Show |
PTGES2 | ENSG00000148334.16 | transcript | ENST00000338961.11 | protein_coding | 1857 | chr9 | TogoVar | |||||||
PTGES2_chr9_128115693_128132729 | 128118878 | C | CAGGGATG others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(48): Show |
231 | 366 | 0.6312 | 24 | c.*22 others(35): Show |
PTGES2 | ENSG00000148334.16 | transcript | ENST00000338961.11 | protein_coding | 1814 | chr9 | TogoVar | |||||||
PTGES3_chr12_56658349_56693284 | 56674825 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02630.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0215 a0001c0001t0001g0236 a0001c0001t0004g0005 |
3 | 372 | 0.0081 | 24 | c.3-1 others(37): Show |
PTGES3 | ENSG00000110958.16 | transcript | ENST00000262033.11 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
PTGFRN_chr1_116904916_116995353 | 116971282 | T | TTAGCCAT others(17): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0269 | 1 | 314 | 0.0032 | 24 | c.206 others(43): Show |
PTGFRN | ENSG00000134247.10 | transcript | ENST00000393203.3 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTGR1_chr9_111557567_111604647 | 111560974 | T | TATATAGA others(17): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 408 | 0.0025 | 24 | c.*21 others(35): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 1592 | chr9 | TogoVar | |||||||
PTGR1_chr9_111557567_111604647 | 111560974 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 408 | 0.0049 | 24 | c.*21 others(35): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 1592 | chr9 | TogoVar | |||||||
PTGR1_chr9_111557567_111604647 | 111561110 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309 | 1 | 408 | 0.0025 | 24 | c.*20 others(35): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 1456 | chr9 | TogoVar | |||||||
PTGR1_chr9_111557567_111604647 | 111561110 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 | 1 | 408 | 0.0025 | 24 | c.*20 others(35): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 1456 | chr9 | TogoVar | |||||||
PTGS1_chr9_122366024_122400703 | 122396103 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0052 | 1 | 332 | 0.0030 | 24 | c.*35 others(35): Show |
PTGS1 | ENSG00000095303.17 | transcript | ENST00000362012.7 | protein_coding | 401 | chr9 | TogoVar | |||||||
PTH2R_chr2_208401792_208499506 | 208408719 | G | GGAAAGAG others(17): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 294 | 0.0034 | 24 | c.75+ others(39): Show |
PTH2R | ENSG00000144407.10 | transcript | ENST00000272847.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTH2R_chr2_208401792_208499506 | 208408722 | A | AAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02257.hp1 HG02280.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0003a0002c0004t0004 | a0001c0003t0003g0010 a0001c0003t0003g0153 a0001c0003t0003g0154 others(2): Show |
6 | 294 | 0.0204 | 24 | c.75+ others(39): Show |
PTH2R | ENSG00000144407.10 | transcript | ENST00000272847.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTK2B_chr8_27320552_27464386 | 27350975 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 328 | 0.0031 | 24 | c.-38 others(43): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTK2B_chr8_27320552_27464386 | 27405035 | C | CCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0026a0002c0005 | a0001c0001t0003a0001c0026t0001a0002c0005t0001 | a0001c0001t0003g0037 a0001c0001t0003g0183 a0001c0001t0003g0185 others(3): Show |
7 | 328 | 0.0213 | 24 | c.204 others(41): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTK2_chr8_140652900_141006282 | 140669301 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 290 | 0.0035 | 24 | c.284 others(41): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 33/35 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 141000087 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18947.hp1 NA18971.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0247 a0001c0003t0001g0246 a0001c0003t0002g0248 others(2): Show |
5 | 290 | 0.0172 | 24 | c.-12 others(43): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 1/35 | chr8 | TogoVar | |||||||
PTK2_chr8_140652900_141006282 | 141001404 | T | TGCGCGCC others(17): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 290 | 0.0035 | 24 | c.-42 others(33): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 123 | chr8 | TogoVar | |||||||
PTK6_chr20_63523001_63542376 | 63535834 | G | GCCCCCTC others(17): Show |
intron_variant | MODIFIER | HG01243.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 a0001c0001t0002g0091 |
2 | 344 | 0.0058 | 24 | c.231 others(39): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
PTK6_chr20_63523001_63542376 | 63535887 | T | TCCTCACC others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02165.hp1 HG02523.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0181 others(1): Show |
4 | 344 | 0.0116 | 24 | c.231 others(39): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
PTK6_chr20_63523001_63542376 | 63536048 | T | TCCTCTCC others(17): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 344 | 0.0029 | 24 | c.231 others(39): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
PTK7_chr6_43071314_43166715 | 43157364 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 272 | 0.0037 | 24 | c.272 others(43): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTK7_chr6_43071314_43166715 | 43157364 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 272 | 0.0037 | 24 | c.272 others(43): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTK7_chr6_43071314_43166715 | 43157364 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 272 | 0.0037 | 24 | c.272 others(43): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTMA_chr2_231703525_231718551 | 231715775 | T | TGCACCCT others(17): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0023 others(6): Show |
13 | 392 | 0.0332 | 24 | c.*29 others(35): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 2225 | chr2 | TogoVar | |||||||
PTMA_chr2_231703525_231718551 | 231717489 | A | AATTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 392 | 0.0026 | 24 | c.*46 others(35): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 3939 | chr2 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137280699 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 296 | 0.0034 | 24 | c.-1- others(41): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137324433 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 296 | 0.0034 | 24 | c.-2+ others(41): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77533714 | C | CAGTAGGG others(17): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00735.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 others(42): Show |
45 | 310 | 0.1452 | 24 | c.-38 others(35): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 3580 | chr7 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77537203 | A | AGGCGGCG others(17): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG02004.hp1 HG02055.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0001a0006c0006t0001 | a0001c0001t0001g0149 a0002c0002t0001g0031 a0002c0002t0001g0040 others(4): Show |
7 | 310 | 0.0226 | 24 | c.-34 others(33): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 91 | chr7 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77625472 | G | GCTCGCGC others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03209.hp2 NA19068.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0227 others(1): Show |
4 | 310 | 0.0129 | 24 | c.102 others(43): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77625472 | G | GCTCGCGC others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 | 1 | 310 | 0.0032 | 24 | c.102 others(43): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77625472 | G | GCTCGCGC others(17): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01993.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 a0002c0002t0001g0086 |
2 | 310 | 0.0065 | 24 | c.102 others(43): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77625520 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0151 | 1 | 310 | 0.0032 | 24 | c.102 others(43): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTPN13_chr4_86589315_86820161 | 86705333 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0001 | 1 | 198 | 0.0051 | 24 | c.119 others(43): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PTPN13_chr4_86589315_86820161 | 86718455 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0009 | 1 | 198 | 0.0051 | 24 | c.138 others(43): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 9/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214364766 | A | AGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02886.hp1 NA18906.hp2 |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0009a0001c0001t0057a0007c0012t0164 | a0001c0001t0009g0004 a0001c0001t0057g0028 a0007c0012t0164g0249 |
3 | 272 | 0.0110 | 24 | c.327 others(40): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 17/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214368196 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02622.hp2 |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0010a0007c0012t0117 | a0001c0001t0010g0064 a0007c0012t0117g0188 |
2 | 272 | 0.0074 | 24 | c.327 others(43): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 17/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214368196 | T | TTTTTTTA others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 NA19240.hp1 |
a0001a0015 | a0001c0015a0001c0026a0015c0022 | a0001c0015t0154a0001c0026t0102a0015c0022t0055 | a0001c0015t0154g0198 a0001c0026t0102g0078 a0015c0022t0055g0185 |
3 | 272 | 0.0110 | 24 | c.327 others(43): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 17/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402659 | A | AAGGGAGG others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02922.hp2 |
a0001 | a0001c0008 | a0001c0008t0015 | a0001c0008t0015g0182 a0001c0008t0015g0183 |
2 | 272 | 0.0074 | 24 | c.581 others(39): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar |