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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLPP3_chr1_56489761_56584563 | 56520592 | AGTGGCTC others(40): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00738.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0228 a0001c0001t0002g0318 a0001c0001t0003g0135 others(30): Show |
33 | 334 | 0.0988 | -47 | c.633 others(64): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
PLPP4_chr10_120452227_120597065 | 120592607 | CCCAGCCC others(40): Show |
C | downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0083 | 1 | 326 | 0.0031 | -47 | c.*31 others(58): Show |
PLPP4 | ENSG00000203805.11 | transcript | ENST00000398250.6 | protein_coding | 543 | chr10 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137536849 | CACTTCAT others(40): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG02970.hp2 others(1): Show |
a0009a0015a0023others(1): Show | a0009c0013a0015c0014a0023c0028others(1): Show | a0009c0013t0001a0015c0014t0001a0023c0028t0001others(1): Show | a0009c0013t0001g0151 a0015c0014t0001g0168 a0023c0028t0001g0172 others(1): Show |
4 | 186 | 0.0215 | -47 | c.747 others(64): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 8/34 | chr9 | TogoVar | |||||||
POTEB3_chr15_21400401_21445499 | 21410726 | GGTGTGTG others(40): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0005 | a0001c0005t0020 | a0001c0005t0020g0043 | 1 | 41 | 0.0244 | -47 | c.153 others(64): Show |
POTEB3 | ENSG00000278522.5 | transcript | ENST00000611217.5 | protein_coding | 10/10 | chr15 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70220908 | TATAATAT others(40): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01175.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0046 others(9): Show |
15 | 403 | 0.0372 | -47 | c.124 others(64): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPM1H_chr12_62638994_62940150 | 62817116 | TAAAAAAA others(40): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0136 a0001c0001t0007g0194 |
2 | 221 | 0.0090 | -47 | c.411 others(66): Show |
PPM1H | ENSG00000111110.12 | transcript | ENST00000228705.7 | protein_coding | 2/9 | chr12 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706430 | TACACACA others(40): Show |
T | downstream_gene_variant | MODIFIER | HG02698.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0060 |
2 | 407 | 0.0049 | -47 | c.*36 others(58): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3567 | chr1 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38896140 | TTTCCTTC others(40): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03579.hp2 HG03688.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0004 a0001c0002t0002g0148 a0001c0002t0002g0184 others(2): Show |
5 | 234 | 0.0214 | -47 | c.467 others(62): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PPP1R37_chr19_45088179_45152285 | 45089423 | TTCCAGAT others(40): Show |
T | upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 340 | 0.0029 | -47 | c.-39 others(58): Show |
PPP1R37 | ENSG00000104866.11 | transcript | ENST00000221462.9 | protein_coding | 3755 | chr19 | TogoVar | |||||||
PPP2R5D_chr6_42979570_43017342 | 42998029 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 | 1 | 304 | 0.0033 | -47 | c.105 others(64): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R5D_chr6_42979570_43017342 | 42998031 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG02258.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0175 a0001c0001t0004g0178 |
2 | 303 | 0.0066 | -47 | c.105 others(64): Show |
PPP2R5D | ENSG00000112640.16 | transcript | ENST00000485511.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R5E_chr14_63366364_63548377 | 63377788 | CCCTGAAA others(40): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 250 | 0.0040 | -47 | c.130 others(66): Show |
PPP2R5E | ENSG00000154001.14 | transcript | ENST00000337537.8 | protein_coding | 13/13 | chr14 | TogoVar | |||||||
PPP3CA_chr4_101018418_101352526 | 101106449 | GAAAGAGA others(40): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015a0001c0001t0057 | a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0014 others(3): Show |
6 | 186 | 0.0323 | -47 | c.384 others(64): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389358 | TCAAAACA others(40): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 391 | 0.0026 | -47 | c.135 others(64): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP5C_chr19_46342087_46395975 | 46394679 | GCAGTTTA others(40): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0190 | 1 | 392 | 0.0026 | -47 | c.*43 others(58): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 3705 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50425713 | GGTGTCTC others(40): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 338 | 0.0030 | -47 | c.112 others(66): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPTC7_chr12_110528245_110588318 | 110564772 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01175.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0285 others(27): Show |
30 | 297 | 0.1010 | -47 | c.224 others(66): Show |
PPTC7 | ENSG00000196850.6 | transcript | ENST00000354300.5 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41813936 | CCTCGTGT others(40): Show |
C | intron_variant | MODIFIER | HG02630.hp1 NA19030.hp2 NA21309.hp2 |
a0001 | a0001c0006a0001c0025 | a0001c0006t0013a0001c0025t0013 | a0001c0006t0013g0032 a0001c0006t0013g0055 a0001c0025t0013g0030 |
3 | 401 | 0.0075 | -47 | c.239 others(66): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 19/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41814520 | GGTGCTCT others(40): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
a0001a0002a0010 | a0001c0004a0001c0006a0001c0014others(9): Show | a0001c0004t0003a0001c0006t0005a0001c0014t0003others(14): Show | a0001c0004t0003g0010 a0001c0004t0003g0062 a0001c0004t0003g0111 others(62): Show |
66 | 404 | 0.1634 | -47 | c.239 others(66): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 19/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41844717 | CACACACA others(40): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp1 HG01346.hp2 others(10): Show |
a0001a0006 | a0001c0003a0006c0029 | a0001c0003t0001a0001c0003t0035a0006c0029t0001 | a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0082 others(10): Show |
13 | 404 | 0.0322 | -47 | c.640 others(64): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3287226 | AGCCACGC others(40): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03453.hp2 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0045a0001c0004t0004a0001c0004t0007others(1): Show | a0001c0001t0045g0024 a0001c0004t0004g0051 a0001c0004t0007g0063 others(1): Show |
4 | 201 | 0.0199 | -47 | c.438 others(66): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93737431 | AGGTGGGA others(40): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA19043.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0002 | a0001c0005t0001g0216 a0001c0006t0002g0214 |
2 | 395 | 0.0051 | -47 | c.230 others(61): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
PRKAA1_chr5_40754389_40803374 | 40800548 | GGGGGGGT others(40): Show |
G | upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 400 | 0.0025 | -47 | c.-24 others(58): Show |
PRKAA1 | ENSG00000132356.12 | transcript | ENST00000397128.7 | protein_coding | 2175 | chr5 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151841708 | GATGGTAG others(40): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01243.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(3): Show | a0001c0001t0001g0119 a0001c0001t0001g0148 a0001c0001t0002g0051 others(4): Show |
7 | 250 | 0.0280 | -47 | c.114 others(66): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151842033 | GTGATGGT others(40): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01516.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0112 others(1): Show |
4 | 250 | 0.0160 | -47 | c.114 others(66): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151842156 | TGATGGTA others(40): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(71): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0035 others(71): Show |
74 | 250 | 0.2960 | -47 | c.114 others(66): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23866968 | CCCTTCCT others(40): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0026 | 1 | 140 | 0.0071 | -47 | c.205 others(66): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCE_chr2_45646675_46192990 | 45744453 | CTTTCTTT others(40): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG02055.hp2 HG02602.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0088 a0001c0001t0002g0005 a0001c0001t0002g0059 others(10): Show |
13 | 166 | 0.0783 | -47 | c.348 others(66): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122302 | CGGTGGTA others(40): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02735.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0159 a0001c0003t0001g0137 |
2 | 221 | 0.0090 | -47 | c.335 others(66): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122305 | TGGTAGGG others(40): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0197 a0001c0003t0001g0111 a0001c0003t0001g0259 others(3): Show |
6 | 232 | 0.0259 | -47 | c.335 others(66): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122418 | CGGTGGTA others(40): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234 | 1 | 206 | 0.0049 | -47 | c.335 others(66): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122965 | ATGGTGGT others(40): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02056.hp2 NA18942.hp1 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0002t0004a0001c0004t0001others(1): Show | a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0143 others(7): Show |
10 | 275 | 0.0364 | -47 | c.335 others(66): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122980 | GTCACGGT others(40): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 | 1 | 266 | 0.0038 | -47 | c.335 others(66): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154159 | CGGGGGAG others(40): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 NA18960.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0001g0141 |
4 | 367 | 0.0109 | -47 | c.-45 others(58): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4488 | chr13 | TogoVar | |||||||
PRPF3_chr1_150316533_150358233 | 150333338 | TCACCTGA others(40): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 360 | 0.0028 | -47 | c.728 others(62): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 6/15 | chr1 | TogoVar | |||||||
PRPSAP2_chr17_18853131_18936287 | 18868462 | GAGCGAGA others(40): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 390 | 0.0026 | -47 | c.172 others(64): Show |
PRPSAP2 | ENSG00000141127.15 | transcript | ENST00000268835.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18865246 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG01258.hp2 HG01496.hp1 HG01975.hp1 others(4): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0003t0011a0002c0003t0071others(3): Show | a0002c0003t0001g0060 a0002c0003t0001g0116 a0002c0003t0011g0099 others(4): Show |
7 | 200 | 0.0350 | -47 | c.163 others(66): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865248 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02056.hp2 HG02523.hp1 others(4): Show |
a0002 | a0002c0003a0002c0005a0002c0032 | a0002c0003t0001a0002c0003t0007a0002c0003t0013others(4): Show | a0002c0003t0001g0112 a0002c0003t0007g0111 a0002c0003t0013g0141 others(4): Show |
7 | 209 | 0.0335 | -47 | c.163 others(66): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865250 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | HG03490.hp2 NA18989.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0222 a0002c0003t0004g0225 |
2 | 215 | 0.0093 | -47 | c.163 others(66): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSPC1_chr13_19697500_19787945 | 19779280 | GGGGGGGG others(40): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(4): Show |
7 | 256 | 0.0273 | -47 | c.372 others(64): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
PTP4A2_chr1_31901421_31943368 | 31908135 | TTATATTA others(40): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 256 | 0.0039 | -47 | c.*67 others(56): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 670 | chr1 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141427100 | TGTCAGGT others(40): Show |
T | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 322 | 0.0031 | -47 | c.329 others(60): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 4/5 | chr8 | TogoVar | |||||||
PTPRO_chr12_15317508_15603331 | 15513093 | AAGAAAGA others(40): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp2 HG01515.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0119 others(11): Show |
14 | 162 | 0.0864 | -47 | c.146 others(66): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1710729 | CCTCTCCA others(40): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00733.hp2 others(44): Show |
a0001a0004a0011 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 others(44): Show |
47 | 317 | 0.1483 | -47 | c.201 others(66): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1711440 | ACTCCACC others(40): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 HG03098.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0022a0001c0032others(1): Show | a0001c0001t0019a0001c0022t0014a0001c0032t0028others(1): Show | a0001c0001t0019g0242 a0001c0022t0014g0047 a0001c0032t0028g0046 others(1): Show |
4 | 315 | 0.0127 | -47 | c.201 others(66): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132692553 | AGTTAGTG others(40): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG03490.hp2 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 |
3 | 348 | 0.0086 | -47 | c.236 others(64): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55580827 | CTAAAACA others(40): Show |
C | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0353 | 1 | 410 | 0.0024 | -47 | c.49+ others(62): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136221052 | GCAGAGGC others(40): Show |
G | intron_variant | MODIFIER | HG02165.hp1 HG03831.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0054 | a0001c0001t0026g0307 a0001c0001t0026g0308 a0001c0001t0054g0309 |
3 | 390 | 0.0077 | -47 | c.821 others(62): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
QSOX2_chr9_136201333_136250812 | 136221201 | AAAGGGCT others(40): Show |
A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0295 | 1 | 390 | 0.0026 | -47 | c.821 others(62): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57427491 | AGGCGTGT others(40): Show |
A | intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 334 | 0.0030 | -47 | c.-10 others(66): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 1/23 | chr12 | TogoVar |