| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PTCHD1_chrX_23329849_23409374 | 23342292 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0108 | a0001c0001t0010g0264a0001c0001t0108g0263 | 2 | 297 | 0.0067 | -25 | c.351 others(42): Show |
PTCHD1 | ENSG00000165186.12 | transcript | ENST00000379361.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PTDSS2_chr11_445279_496399 | 475537 | CATTCACG others(18): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 346 | 0.0029 | -25 | c.367 others(42): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PTDSS2_chr11_445279_496399 | 494148 | CGCTGGGC others(18): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01106.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0172a0002c0003t0008g0173a0002c0003t0008g0174others(1): Show | 4 | 346 | 0.0116 | -25 | c.*35 others(36): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 2750 | chr11 | TogoVar | ||||||
| PTGES3_chr12_56658349_56693284 | 56689872 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(251): Show | 255 | 372 | 0.6855 | -25 | c.-18 others(36): Show |
PTGES3 | ENSG00000110958.16 | transcript | ENST00000262033.11 | protein_coding | 1589 | chr12 | TogoVar | ||||||
| PTK2B_chr8_27320552_27464386 | 27350991 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02056.hp1 NA18943.hp2 NA18949.hp2 others(7): Show |
a0001a0002a0008 | a0001c0002a0001c0009a0002c0003others(2): Show | a0001c0002t0001a0001c0009t0002a0002c0003t0002others(2): Show | a0001c0002t0001g0312a0001c0009t0002g0313a0002c0003t0002g0012others(5): Show | 10 | 328 | 0.0305 | -25 | c.-38 others(44): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | chr8 | TogoVar | ||||||
| PTK2_chr8_140652900_141006282 | 140670481 | AAACAACA others(18): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00738.hp1 others(64): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0016others(4): Show | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0014others(64): Show | 67 | 290 | 0.2310 | -25 | c.283 others(42): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 32/35 | chr8 | TogoVar | ||||||
| PTK2_chr8_140652900_141006282 | 140670483 | ACAACAAC others(18): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 290 | 0.0035 | -25 | c.283 others(42): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 32/35 | chr8 | TogoVar | ||||||
| PTK2_chr8_140652900_141006282 | 140670485 | AACAACAC others(18): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01169.hp1 HG02083.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0003t0002 | a0001c0001t0002g0013a0001c0001t0002g0040a0001c0001t0002g0041others(7): Show | 10 | 290 | 0.0345 | -25 | c.283 others(42): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 32/35 | chr8 | TogoVar | ||||||
| PTK7_chr6_43071314_43166715 | 43152734 | TTTATGTT others(18): Show |
T | intron_variant | MODIFIER | NA18969.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0002g0036 | 2 | 272 | 0.0074 | -25 | c.272 others(44): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PTP4A2_chr1_31901421_31943368 | 31908135 | TTATATTA others(18): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0036a0001c0001t0105 | a0001c0001t0005g0150a0001c0001t0005g0217a0001c0001t0005g0287others(5): Show | 8 | 354 | 0.0226 | -25 | c.*69 others(34): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 692 | chr1 | TogoVar | |||||
| PTPN12_chr7_77532295_77645069 | 77641210 | ATTTTTTT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01070.hp2 others(23): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0004a0003c0003t0001 | a0002c0002t0001g0002a0002c0002t0001g0018a0002c0002t0001g0024others(23): Show | 26 | 310 | 0.0839 | -25 | c.*19 others(36): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 1142 | chr7 | TogoVar | ||||||
| PTPN13_chr4_86589315_86820161 | 86799378 | CTCACTAC others(18): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01123.hp2 others(13): Show |
a0003a0004a0007others(2): Show | a0003c0002a0004c0005a0004c0028others(3): Show | a0003c0002t0005a0004c0005t0004a0004c0005t0005others(5): Show | a0003c0002t0005g0169a0004c0005t0004g0001a0004c0005t0004g0002others(13): Show | 16 | 198 | 0.0808 | -25 | c.650 others(42): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PTPN2_chr18_12787152_12889237 | 12811098 | CTAATATT others(18): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 370 | 0.0027 | -25 | c.858 others(42): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
| PTPRB_chr12_70510870_70642429 | 70564836 | AAATAATA others(18): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0009 | a0009c0030 | a0009c0030t0029 | a0009c0030t0029g0119 | 1 | 300 | 0.0033 | -25 | c.390 others(44): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 15/33 | chr12 | TogoVar | ||||||
| PTPRD_chr9_8309246_10618002 | 8726589 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0032 | 1 | 34 | 0.0294 | -25 | c.64+ others(40): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 12/45 | chr9 | TogoVar | ||||||
| PTPRD_chr9_8309246_10618002 | 9043904 | AAAAATAA others(18): Show |
A | intron_variant | MODIFIER | NA19030.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0004a0001c0001t0024g0032 | 2 | 34 | 0.0588 | -25 | c.-14 others(46): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 10/45 | chr9 | TogoVar | ||||||
| PTPRD_chr9_8309246_10618002 | 9975098 | GCACTGTC others(18): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0027 | 1 | 34 | 0.0294 | -25 | c.-47 others(46): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | ||||||
| PTPRE_chr10_127902103_128090855 | 128010545 | CCTTTTCT others(18): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0022 | a0001c0001t0002g0168a0001c0001t0005g0034a0001c0001t0022g0235 | 3 | 304 | 0.0099 | -25 | c.-8+ others(42): Show |
PTPRE | ENSG00000132334.17 | transcript | ENST00000254667.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PTPRE_chr10_127902103_128090855 | 128017775 | TTCACTCT others(18): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0047 | 1 | 304 | 0.0033 | -25 | c.-7- others(42): Show |
PTPRE | ENSG00000132334.17 | transcript | ENST00000254667.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PTPRE_chr10_127902103_128090855 | 128081571 | CAGTCAAT others(18): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 304 | 0.0033 | -25 | c.202 others(44): Show |
PTPRE | ENSG00000132334.17 | transcript | ENST00000254667.8 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PTPRG_chr3_61556571_62302609 | 61672694 | CAGAGGGA others(18): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 94 | 0.0106 | -25 | c.86- others(42): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PTPRG_chr3_61556571_62302609 | 61871153 | GTGTTGTG others(18): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02965.hp2 NA18522.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0002 | a0001c0001t0001g0009a0004c0006t0002g0081a0004c0006t0002g0088 | 3 | 94 | 0.0319 | -25 | c.191 others(46): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PTPRG_chr3_61556571_62302609 | 61871158 | GTGTTGTG others(18): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0073a0001c0001t0003g0012 | 2 | 94 | 0.0213 | -25 | c.191 others(46): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PTPRG_chr3_61556571_62302609 | 61871163 | GTGTTATG others(18): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 94 | 0.0106 | -25 | c.191 others(46): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PTPRJ_chr11_47975559_48175839 | 48053240 | ATATTTAT others(18): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0044 | 1 | 216 | 0.0046 | -25 | c.97- others(42): Show |
PTPRJ | ENSG00000149177.15 | transcript | ENST00000418331.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PTPRR_chr12_70633079_70925738 | 70666935 | GTTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01261.hp1 others(26): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0008c0009others(1): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0026a0001c0001t0001g0036others(26): Show | 29 | 204 | 0.1422 | -25 | c.149 others(44): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 10/13 | chr12 | TogoVar | ||||||
| PTPRS_chr19_5200508_5345812 | 5272595 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0023 | 1 | 276 | 0.0036 | -25 | c.379 others(40): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 4/37 | chr19 | TogoVar | ||||||
| PTPRS_chr19_5200508_5345812 | 5343287 | TAGCTGTC others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0009 | a0001c0009t0033 | a0001c0009t0033g0078 | 1 | 276 | 0.0036 | -25 | c.-27 others(36): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 2476 | chr19 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 30972267 | AGAAGGGA others(18): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 334 | 0.0030 | -25 | c.150 others(44): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
| PUM1_chr1_30926506_31070717 | 30972269 | AAGGGAAG others(18): Show |
A | intron_variant | MODIFIER | HG03579.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041a0001c0001t0002g0074 | 2 | 334 | 0.0060 | -25 | c.150 others(44): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
| PUS1_chr12_131924276_131950896 | 131927041 | CAGAGGGA others(18): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 NA18522.hp2 |
a0001 | a0001c0011a0001c0012 | a0001c0011t0006a0001c0012t0006 | a0001c0011t0006g0140a0001c0012t0006g0139 | 2 | 382 | 0.0052 | -25 | c.-26 others(36): Show |
PUS1 | ENSG00000177192.14 | transcript | ENST00000376649.8 | protein_coding | 2234 | chr12 | TogoVar | ||||||
| PUS3_chr11_125888485_125908206 | 125889702 | AACTCCAG others(18): Show |
A | downstream_gene_variant | MODIFIER | HG01346.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0011 | 2 | 450 | 0.0044 | -25 | c.*40 others(36): Show |
PUS3 | ENSG00000110060.9 | transcript | ENST00000227474.8 | protein_coding | 3782 | chr11 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51486770 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02896.hp2 |
a0008 | a0008c0008 | a0008c0008t0001a0008c0008t0003 | a0008c0008t0001g0059a0008c0008t0001g0064a0008c0008t0003g0007 | 3 | 122 | 0.0246 | -25 | c.453 others(42): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 5/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51534668 | GGGCGCCT others(18): Show |
G | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 122 | 0.0082 | -25 | c.380 others(44): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | ||||||
| PXDNL_chr8_51314577_51814445 | 51577914 | AAAAGAAA others(18): Show |
A | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 122 | 0.0082 | -25 | c.308 others(44): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1740771 | CAACACCC others(18): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0003t0018a0001c0004t0004 | a0001c0001t0004g0302a0001c0003t0018g0303a0001c0004t0004g0164 | 3 | 322 | 0.0093 | -25 | c.200 others(42): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| PXK_chr3_58327892_58431127 | 58336051 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025a0001c0001t0004g0026a0001c0001t0004g0027 | 3 | 300 | 0.0100 | -25 | c.102 others(42): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PXK_chr3_58327892_58431127 | 58336055 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 300 | 0.0033 | -25 | c.102 others(42): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PXK_chr3_58327892_58431127 | 58378503 | TTTTTTTT others(18): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0248 | 1 | 300 | 0.0033 | -25 | c.202 others(42): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PXK_chr3_58327892_58431127 | 58378505 | TTTTTTTT others(18): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG02257.hp1 HG02647.hp1 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002 | a0002c0002t0002g0246a0002c0002t0002g0249a0002c0002t0002g0250others(6): Show | 9 | 300 | 0.0300 | -25 | c.202 others(42): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PXK_chr3_58327892_58431127 | 58378507 | TTTTTTTG others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01071.hp1 others(39): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0010a0003c0003t0002 | a0002c0002t0002g0004a0002c0002t0002g0094a0002c0002t0002g0113others(38): Show | 42 | 300 | 0.1400 | -25 | c.202 others(42): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PXMP2_chr12_132682587_132709985 | 132692105 | TGCCAGTT others(18): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 3 | 350 | 0.0086 | -25 | c.236 others(42): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PXMP2_chr12_132682587_132709985 | 132692879 | CCAGTTAG others(18): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01346.hp2 others(14): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0002a0004c0006t0002 | a0001c0002t0002g0006a0001c0002t0002g0009a0001c0002t0002g0048others(7): Show | 17 | 350 | 0.0486 | -25 | c.236 others(42): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PXMP2_chr12_132682587_132709985 | 132694640 | TGCCAGTT others(18): Show |
T | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 350 | 0.0029 | -25 | c.237 others(42): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PXMP2_chr12_132682587_132709985 | 132694938 | TAGCCAGT others(18): Show |
T | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 | 1 | 350 | 0.0029 | -25 | c.237 others(40): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| PYROXD1_chr12_21432655_21476250 | 21460890 | CAATGTGG others(18): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02647.hp2 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0035a0001c0001t0036a0001c0001t0038others(3): Show | a0001c0001t0035g0158a0001c0001t0036g0157a0001c0001t0038g0151others(3): Show | 8 | 416 | 0.0192 | -25 | c.751 others(40): Show |
PYROXD1 | ENSG00000121350.16 | transcript | ENST00000240651.14 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| QSOX2_chr9_136201333_136250812 | 136245941 | CCCCCGCC others(18): Show |
C | upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0086 | a0001c0002t0086g0126 | 1 | 392 | 0.0026 | -25 | c.-16 others(34): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 130 | chr9 | TogoVar | ||||||
| RAB11FIP4_chr17_31386675_31543211 | 31445556 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0118 | 1 | 310 | 0.0032 | -25 | c.336 others(44): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAB11FIP4_chr17_31386675_31543211 | 31445558 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18950.hp1 NA18970.hp2 NA19003.hp1 |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0010a0001c0004t0006a0001c0005t0009 | a0001c0001t0010g0194a0001c0004t0006g0064a0001c0005t0009g0260 | 3 | 310 | 0.0097 | -25 | c.336 others(44): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAB11FIP4_chr17_31386675_31543211 | 31445560 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0041a0001c0001t0001g0065a0001c0001t0001g0071others(32): Show | 35 | 310 | 0.1129 | -25 | c.336 others(44): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |