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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR51A4_chr11_4937831_4952605 | 4946925 | TCATGCAA others(5673): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(8): Show | a0001c0001t0001g0001 a0001c0001t0007g0008 a0001c0001t0013g0015 others(8): Show |
137 | 434 | 0.3157 | -5680 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 298/4393 | chr11 | TogoVar | ||||||
OR51F1_chr11_4763979_4774938 | 4769643 | CG | C | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(62): Show |
a0002 | a0002c0003a0002c0004a0002c0005others(8): Show | a0002c0003t0001a0002c0004t0001a0002c0005t0001others(8): Show | a0002c0003t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(8): Show |
65 | 340 | 0.1912 | -1 | c.295 others(4): Show |
p.Arg others(4): Show |
OR51F1 | ENSG00000280021.3 | transcript | ENST00000624103.2 | protein_coding | 1/1 | 295/960 | 295/960 | 99/319 | chr11 | TogoVar | |||
OR51V1_chr11_5194735_5205682 | 5200208 | TAAAG | T | frameshift_variant | HIGH | HG02280.hp2 HG02572.hp2 HG02717.hp1 others(9): Show |
a0003 | a0003c0005a0003c0006 | a0003c0005t0001a0003c0006t0001 | a0003c0005t0001g0000 a0003c0006t0001g0000 |
12 | 444 | 0.0270 | -4 | c.471 others(11): Show |
p.Phe others(5): Show |
OR51V1 | ENSG00000176742.3 | transcript | ENST00000641270.1 | protein_coding | 1/1 | 474/948 | 471/948 | 157/315 | chr11 | TogoVar | |||
OR52B4_chr11_4362263_4373386 | 4368174 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(170): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0000 a0002c0002t0004g0000 |
173 | 464 | 0.3728 | -1 | c.121 others(4): Show |
p.Leu others(4): Show |
OR52B4 | ENSG00000221996.6 | transcript | ENST00000624801.3 | protein_coding | 1/1 | 212/1124 | 121/945 | 41/314 | chr11 | TogoVar | |||
OR52E8_chr11_5851749_5862690 | 5856749 | T | A | stop_lost others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(165): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 168 | 434 | 0.3871 | 0 | c.942 others(3): Show |
p.Ter others(11): Show |
OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | 942/942 | 942/942 | 314/313 | chr11 | TogoVar | |||
OR5AC2_chr3_98082173_98093102 | 98087856 | G | GA | frameshift_variant | HIGH | HG01175.hp2 HG02055.hp1 HG02109.hp2 others(14): Show |
a0006a0008a0009 | a0006c0006a0008c0009a0009c0010 | a0006c0006t0001a0006c0006t0002a0008c0009t0001others(1): Show | a0006c0006t0001g0000 a0006c0006t0002g0000 a0008c0009t0001g0000 others(1): Show |
17 | 460 | 0.0370 | 1 | c.692 others(4): Show |
p.Ser others(5): Show |
OR5AC2 | ENSG00000196578.4 | transcript | ENST00000358642.2 | protein_coding | 1/1 | 693/930 | 693/930 | 231/309 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0005t0001g0000 others(2): Show |
303 | 430 | 0.7047 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | |||
OR5P3_chr11_7819818_7835840 | 7825116 | TTCAACAT others(908): Show |
T | frameshift_variant others(2): Show |
HIGH | HG02572.hp2 HG02630.hp2 HG02647.hp2 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0007 a0003c0003t0003g0025 a0003c0003t0003g0026 |
12 | 422 | 0.0284 | -915 | c.-21 others(10): Show |
p.Met others(3): Show |
OR5P3 | ENSG00000182334.3 | transcript | ENST00000641167.1 | protein_coding | 2/2 | 894/1193 | 1/936 | 1/311 | chr11 | TogoVar | |||
OR6C1_chr12_55309343_55327364 | 55320622 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0002 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0001a0002c0005t0002a0002c0005t0004others(3): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(44): Show |
172 | 472 | 0.3644 | 1 | c.24d others(3): Show |
p.Glu others(3): Show |
OR6C1 | ENSG00000205330.4 | transcript | ENST00000642104.1 | protein_coding | 2/2 | 315/2055 | 25/939 | 9/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
OR6C4_chr12_55544602_55560832 | 55551800 | CTCTT | C | frameshift_variant | HIGH | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(16): Show |
a0003a0004 | a0003c0003a0004c0004a0004c0007others(1): Show | a0003c0003t0007a0003c0003t0015a0003c0003t0016others(4): Show | a0003c0003t0007g0001 a0003c0003t0015g0002 a0003c0003t0015g0007 others(5): Show |
19 | 420 | 0.0452 | -4 | c.575 others(11): Show |
p.Leu others(5): Show |
OR6C4 | ENSG00000179626.4 | transcript | ENST00000641569.1 | protein_coding | 2/2 | 1110/5141 | 575/930 | 192/309 | chr12 | TogoVar | |||
OR6Q1_chr11_58025953_58036906 | 58031636 | AC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00741.hp2 others(25): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 28 | 414 | 0.0676 | -1 | c.685 others(4): Show |
p.Leu others(5): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 1/1 | 685/954 | 685/954 | 229/317 | chr11 | TogoVar | |||
OR7C1_chr19_14793515_14840185 | 14809805 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02280.hp2 HG02572.hp1 HG02622.hp2 others(4): Show |
a0005 | a0005c0008 | a0005c0008t0007 | a0005c0008t0007g0016 a0005c0008t0007g0017 a0005c0008t0007g0118 others(2): Show |
7 | 406 | 0.0172 | 0 | c.-43 others(6): Show |
OR7C1 | ENSG00000127530.4 | transcript | ENST00000641666.2 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0014a0003c0003others(3): Show | a0002c0002t0001a0002c0014t0001a0003c0003t0001others(3): Show | a0002c0002t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 others(3): Show |
177 | 400 | 0.4425 | 5 | c.924 others(12): Show |
p.Ser others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 928/939 | 928/939 | 310/312 | chr19 | TogoVar | |||
OR8G1_chr11_124236095_124259364 | 124250452 | C | G | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0007 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(41): Show |
217 | 428 | 0.5070 | 0 | c.777 others(3): Show |
p.Tyr others(4): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1143/5055 | 777/936 | 259/311 | chr11 | TogoVar | |||
OR8G1_chr11_124236095_124259364 | 124250538 | TGATTTAT others(844): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0007 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(41): Show |
217 | 428 | 0.5070 | -851 | c.866 others(8): Show |
p.Ile others(5): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1232/5055 | 866/936 | 289/311 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 others(8): Show |
350 | 436 | 0.8028 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR8K1 | ENSG00000150261.5 | transcript | ENST00000279783.5 | protein_coding | 1/1 | 2/960 | 2/960 | 1/319 | chr11 | TogoVar | |||
ORM1_chr9_114318098_114331479 | 114325917 | CCCACTGT others(5555): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 461 | 0.0022 | -5562 | c.541 others(13): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
ORM2_chr9_114324869_114338251 | 114325917 | CCCACTGT others(6770): Show |
C | exon_loss_variant | HIGH | HG02572.hp2 | a0007 | a0007c0023 | a0007c0023t0005 | a0007c0023t0005g0025 | 1 | 441 | 0.0023 | -6777 | c.-39 others(13): Show |
ORM2 | ENSG00000228278.5 | transcript | ENST00000431067.4 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
OXSM_chr3_25785090_25799531 | 25794492 | T | C | stop_lost | HIGH | HG01891.hp1 HG02145.hp2 HG02258.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0006a0002c0004t0002 | a0001c0001t0002g0004 a0001c0001t0006g0004 a0002c0004t0002g0004 |
14 | 380 | 0.0368 | 0 | c.137 others(4): Show |
p.Ter others(11): Show |
OXSM | ENSG00000151093.8 | transcript | ENST00000280701.8 | protein_coding | 3/3 | 1467/1506 | 1378/1380 | 460/459 | chr3 | TogoVar | |||
P2RX5_chr17_3668227_3701155 | 3679765 | G | A | stop_gained | HIGH | HG02572.hp2 HG02970.hp2 |
a0001a0004 | a0001c0006a0004c0008 | a0001c0006t0001a0004c0008t0001 | a0001c0006t0001g0188 a0004c0008t0001g0268 |
2 | 360 | 0.0056 | 0 | c.108 others(4): Show |
p.Gln others(4): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 11/12 | 1234/2060 | 1084/1269 | 362/422 | chr17 | TogoVar | |||
P2RX5_chr17_3668227_3701155 | 3690982 | TG | T | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(196): Show |
218 | 360 | 0.6056 | -1 | c.333 others(4): Show |
p.Asn others(5): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3/12 | 483/2060 | 333/1269 | 111/422 | chr17 | TogoVar | |||
PDLIM2_chr8_22575475_22599298 | 22593765 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(39): Show |
a0002a0005a0009others(1): Show | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(6): Show | a0002c0003t0001g0005 a0002c0003t0001g0041 a0002c0003t0001g0056 others(37): Show |
42 | 378 | 0.1111 | 1 | c.916 others(4): Show |
p.Arg others(5): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 9/9 | 1047/1577 | 917/1059 | 306/352 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
PEAK3_chr19_2269631_2287175 | 2275994 | A | AAGGCGTG others(123): Show |
frameshift_variant others(1): Show |
HIGH | HG02572.hp1 | a0006 | a0006c0007 | a0006c0007t0039 | a0006c0007t0039g0058 | 1 | 452 | 0.0022 | 130 | c.978 others(138): Show |
p.Leu others(5): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 4/4 | 1200/2564 | 1107/1422 | 369/473 | chr19 | TogoVar | |||
PERCC1_chr16_1426078_1439441 | 1432864 | G | T | stop_gained | HIGH | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0002 | 1 | 376 | 0.0027 | 0 | c.271 others(3): Show |
p.Glu others(3): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 349/1926 | 271/804 | 91/267 | chr16 | TogoVar | |||
PERCC1_chr16_1426078_1439441 | 1432886 | GGCGGTAC others(10): Show |
G | frameshift_variant | HIGH | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0002 | 1 | 376 | 0.0027 | -17 | c.294 others(24): Show |
p.Arg others(4): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 372/1926 | 294/804 | 98/267 | chr16 | TogoVar | |||
PERCC1_chr16_1426078_1439441 | 1432941 | C | A | stop_gained | HIGH | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0002 | 1 | 376 | 0.0027 | 0 | c.348 others(3): Show |
p.Tyr others(4): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 426/1926 | 348/804 | 116/267 | chr16 | TogoVar | |||
PERCC1_chr16_1426078_1439441 | 1432981 | T | TCTCAACA others(3): Show |
frameshift_variant | HIGH | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0002 | 1 | 376 | 0.0027 | 10 | c.388 others(17): Show |
p.Tyr others(5): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 467/1926 | 389/804 | 130/267 | chr16 | TogoVar | |||
PERCC1_chr16_1426078_1439441 | 1432986 | T | A | stop_gained | HIGH | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0002 | 1 | 376 | 0.0027 | 0 | c.393 others(3): Show |
p.Tyr others(4): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 471/1926 | 393/804 | 131/267 | chr16 | TogoVar | |||
PERCC1_chr16_1426078_1439441 | 1433021 | T | TCTCAACA others(9): Show |
frameshift_variant | HIGH | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0002 | 1 | 376 | 0.0027 | 16 | c.428 others(23): Show |
p.Glu others(5): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2/2 | 507/1926 | 429/804 | 143/267 | chr16 | TogoVar | |||
PKD1L3_chr16_71924538_72005402 | 71947511 | CTTTG | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(61): Show |
a0003a0004a0006others(10): Show | a0003c0004a0003c0016a0003c0071others(16): Show | a0003c0004t0001a0003c0016t0001a0003c0071t0001others(16): Show | a0003c0004t0001g0033 a0003c0004t0001g0146 a0003c0004t0001g0159 others(61): Show |
64 | 306 | 0.2092 | -4 | c.369 others(13): Show |
p.Thr others(6): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/30 | 4122/5623 | 3695/5199 | 1232/1732 | chr16 | TogoVar | |||
PKD1L3_chr16_71924538_72005402 | 71967237 | G | A | stop_gained | HIGH | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0004a0017others(1): Show | a0001c0001a0001c0028a0001c0062others(14): Show | a0001c0001t0001a0001c0028t0001a0001c0062t0001others(16): Show | a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0157 others(84): Show |
87 | 306 | 0.2843 | 0 | c.236 others(4): Show |
p.Arg others(4): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/30 | 2789/5623 | 2365/5199 | 789/1732 | chr16 | TogoVar | |||
PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(333): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(330): Show |
336 | 372 | 0.9032 | 1 | c.-24 others(6): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PLIN4_chr19_4497192_4523486 | 4510779 | C | CG | frameshift_variant | HIGH | HG01192.hp2 HG01891.hp1 HG02055.hp1 others(7): Show |
a0010a0013a0031others(1): Show | a0010c0024a0010c0031a0013c0046others(4): Show | a0010c0024t0001a0010c0024t0003a0010c0024t0015others(7): Show | a0010c0024t0001g0201 a0010c0024t0003g0202 a0010c0024t0015g0133 others(7): Show |
10 | 410 | 0.0244 | 1 | c.318 others(5): Show |
p.Ala others(6): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 3299/6502 | 3180/4116 | 1060/1371 | chr19 | TogoVar | |||
PLK4_chr4_127875893_127904224 | 127891075 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0112 others(43): Show |
79 | 357 | 0.2213 | 1 | c.183 others(7): Show |
PLK4 | ENSG00000142731.11 | transcript | ENST00000270861.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PLK5_chr19_1519077_1541046 | 1534043 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
a0001a0006a0011others(1): Show | a0001c0001a0001c0007a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(149): Show |
210 | 428 | 0.4907 | 0 | c.825 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 13/13 | chr19 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(208): Show |
a0002a0004a0005others(3): Show | a0002c0002a0002c0007a0002c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(25): Show | a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(182): Show |
211 | 422 | 0.5000 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | |||
POR_chr7_75910155_75991855 | 75985794 | C | CG | frameshift_variant | HIGH | HG01361.hp1 HG02572.hp1 NA18977.hp2 others(5): Show |
a0003a0005a0010 | a0003c0010a0005c0012a0005c0021others(1): Show | a0003c0010t0001a0003c0010t0002a0005c0012t0001others(2): Show | a0003c0010t0001g0113 a0003c0010t0002g0044 a0003c0010t0002g0223 others(5): Show |
8 | 276 | 0.0290 | 1 | c.160 others(5): Show |
p.Val others(5): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 13/16 | 1648/2446 | 1610/2034 | 537/677 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
POTEG_chr14_19397486_19439341 | 19425673 | T | A | stop_gained | HIGH | HG02572.hp2 | a0023 | a0023c0042 | a0023c0042t0015 | a0023c0042t0015g0101 | 1 | 110 | 0.0091 | 0 | c.850 others(3): Show |
p.Lys others(4): Show |
POTEG | ENSG00000187537.13 | transcript | ENST00000547848.5 | protein_coding | 4/11 | 902/2204 | 850/1527 | 284/508 | chr14 | TogoVar | |||
POU3F2_chr6_98829574_98844458 | 98835104 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(44): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(7): Show | a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0004g0000 others(7): Show |
47 | 433 | 0.1085 | 1 | c.239 others(4): Show |
p.Gly others(4): Show |
POU3F2 | ENSG00000184486.10 | transcript | ENST00000328345.8 | protein_coding | 1/1 | 540/4885 | 240/1332 | 80/443 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
PP2D1_chr3_19980346_20017264 | 19986183 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02572.hp2 HG02622.hp1 others(8): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0002a0005c0006t0002 | a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(2): Show |
11 | 394 | 0.0279 | 0 | c.109 others(6): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PPIG_chr2_169579351_169646406 | 169584491 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(85): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(80): Show |
88 | 380 | 0.2316 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50437479 | G | GTCCC | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp2 HG01884.hp1 HG02572.hp2 others(4): Show |
a0004a0007a0009 | a0004c0009a0007c0012a0009c0016others(1): Show | a0004c0009t0025a0007c0012t0016a0009c0016t0008others(1): Show | a0004c0009t0025g0008 a0007c0012t0016g0005 a0007c0012t0016g0044 others(4): Show |
7 | 335 | 0.0209 | 4 | c.168 others(17): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0004others(23): Show | a0002c0002a0003c0003a0004c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0004c0005t0002others(47): Show | a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 others(96): Show |
128 | 420 | 0.3048 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 1/10 | 50/2195 | 1/2013 | 1/670 | chr19 | TogoVar | |||
PRAMEF1_chr1_12786397_12801628 | 12794137 | G | A | stop_gained | HIGH | HG02572.hp1 | a0016 | a0016c0029 | a0016c0029t0004 | a0016c0029t0004g0005 | 1 | 380 | 0.0026 | 0 | c.510 others(3): Show |
p.Trp others(4): Show |
PRAMEF1 | ENSG00000116721.9 | transcript | ENST00000332296.7 | protein_coding | 3/4 | 613/2160 | 510/1425 | 170/474 | chr1 | TogoVar | |||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0023others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 others(62): Show |
245 | 416 | 0.5889 | 0 | c.758 others(3): Show |
p.Trp others(4): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 3/4 | 831/1518 | 758/1425 | 253/474 | chr1 | TogoVar | |||
PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0006others(5): Show | a0003c0003a0003c0028a0005c0005others(7): Show | a0003c0003t0002a0003c0028t0002a0005c0005t0002others(7): Show | a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 others(12): Show |
80 | 442 | 0.1810 | 1 | c.848 others(4): Show |
p.His others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 886/1227 | 848/1056 | 283/351 | chr12 | TogoVar | |||
PRSS3_chr9_33790561_33804231 | 33798475 | G | GATCCTCA others(9): Show |
frameshift_variant others(1): Show |
HIGH | HG02257.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 422 | 0.0047 | 16 | c.455 others(25): Show |
p.Asp others(5): Show |
PRSS3 | ENSG00000010438.17 | transcript | ENST00000379405.4 | protein_coding | 4/5 | 475/808 | 462/744 | 154/247 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show |
324 | 426 | 0.7606 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | |||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
375 | 414 | 0.9058 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar | |||
PTPN23_chr3_47376021_47418435 | 47411089 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show |
a0002a0004a0005others(6): Show | a0002c0004a0002c0008a0002c0009others(17): Show | a0002c0004t0001a0002c0008t0001a0002c0008t0003others(18): Show | a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show |
135 | 330 | 0.4091 | 1 | c.329 others(5): Show |
p.Arg others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3373/5237 | 3297/4911 | 1099/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |