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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR10X1_chr1_158573919_158584899 | 158579702 | C | T | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(209): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0006t0001g0000 others(1): Show |
212 | 428 | 0.4953 | 0 | c.198 others(3): Show |
p.Trp others(3): Show |
OR10X1 | ENSG00000279111.2 | transcript | ENST00000623167.1 | protein_coding | 1/1 | 198/981 | 198/981 | 66/326 | chr1 | TogoVar | |||
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(101): Show |
274 | 478 | 0.5732 | 1 | c.585 others(4): Show |
p.Gly others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1361/4413 | 586/936 | 196/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
OR11H4_chr14_20234286_20249349 | 20242962 | T | A | stop_gained | HIGH | HG02896.hp1 HG02897.hp1 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0059 | 2 | 438 | 0.0046 | 0 | c.141 others(3): Show |
p.Tyr others(3): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2/2 | 198/1585 | 141/945 | 47/314 | chr14 | TogoVar | |||
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 174 | 410 | 0.4244 | -4 | c.513 others(11): Show |
p.Asn others(5): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 516/957 | 513/957 | 171/318 | chr9 | TogoVar | |||
OR13C2_chr9_104599671_104610627 | 104605383 | AGC | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(204): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 207 | 410 | 0.5049 | -2 | c.243 others(9): Show |
p.Leu others(4): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 244/957 | 243/957 | 81/318 | chr9 | TogoVar | |||
OR13C5_chr9_104593457_104604413 | 104598487 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(209): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0004a0005c0005others(4): Show | a0001c0001t0001a0004c0004t0001a0005c0005t0001others(4): Show | a0001c0001t0001g0000 a0004c0004t0001g0000 a0005c0005t0001g0000 others(4): Show |
212 | 422 | 0.5024 | -1 | c.926 others(4): Show |
p.His others(5): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 926/957 | 926/957 | 309/318 | chr9 | TogoVar | |||
OR14L1_chr1_247612143_247627372 | 247620299 | A | AT | frameshift_variant | HIGH | HG00735.hp1 HG02258.hp2 HG02486.hp2 others(8): Show |
a0003a0005 | a0003c0004a0005c0011a0005c0012 | a0003c0004t0006a0003c0004t0017a0005c0011t0006others(1): Show | a0003c0004t0006g0007 a0003c0004t0006g0020 a0003c0004t0006g0038 others(3): Show |
11 | 432 | 0.0255 | 1 | c.721 others(4): Show |
p.Ser others(5): Show |
OR14L1 | ENSG00000198452.8 | transcript | ENST00000641545.1 | protein_coding | 2/2 | 943/3009 | 722/978 | 241/325 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
OR1A2_chr17_3192519_3203448 | 3197642 | AATCTGCT others(4): Show |
A | frameshift_variant | HIGH | HG02486.hp2 HG02897.hp1 HG03516.hp1 others(1): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0000 | 4 | 428 | 0.0093 | -11 | c.129 others(18): Show |
p.Leu others(4): Show |
OR1A2 | ENSG00000172150.4 | transcript | ENST00000381951.1 | protein_coding | 1/1 | 129/930 | 129/930 | 43/309 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122629491 | C | CA | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(154): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0023 others(97): Show |
157 | 418 | 0.3756 | 1 | c.41d others(3): Show |
p.Leu others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 574/1941 | 41/954 | 14/317 | chr9 | TogoVar | |||
OR2T4_chr1_248356665_248367627 | 248362336 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(155): Show |
a0001a0009 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0001a0001c0011t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0000 a0001c0011t0001g0000 a0001c0014t0001g0000 others(1): Show |
158 | 428 | 0.3692 | -1 | c.673 others(4): Show |
p.Ile others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 673/963 | 673/963 | 225/320 | chr1 | TogoVar | |||
OR2V2_chr5_181142586_181164285 | 181155256 | TTGTC | T | frameshift_variant | HIGH | HG00408.hp1 HG00738.hp2 HG01515.hp2 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0009a0003c0003t0014a0003c0003t0032others(4): Show | a0003c0003t0009g0004 a0003c0003t0009g0010 a0003c0003t0014g0010 others(10): Show |
26 | 422 | 0.0616 | -4 | c.320 others(11): Show |
p.Cys others(5): Show |
OR2V2 | ENSG00000182613.3 | transcript | ENST00000641492.1 | protein_coding | 2/2 | 754/4777 | 320/948 | 107/315 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
OR4D6_chr11_59451961_59462905 | 59457656 | GC | G | frameshift_variant | HIGH | HG00642.hp2 HG01099.hp1 HG01109.hp2 others(20): Show |
a0005a0010 | a0005c0005a0010c0011 | a0005c0005t0001a0010c0011t0001 | a0005c0005t0001g0000 a0010c0011t0001g0000 |
23 | 420 | 0.0548 | -1 | c.697 others(4): Show |
p.Arg others(5): Show |
OR4D6 | ENSG00000166884.3 | transcript | ENST00000300127.3 | protein_coding | 1/1 | 697/945 | 697/945 | 233/314 | chr11 | TogoVar | |||
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(223): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0004a0002c0005others(7): Show | a0002c0002t0001a0002c0004t0001a0002c0005t0001others(7): Show | a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(7): Show |
226 | 400 | 0.5650 | 0 | c.819 others(3): Show |
p.Tyr others(4): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 1/1 | 819/918 | 819/918 | 273/305 | chr11 | TogoVar | |||
OR4X2_chr11_48240104_48251015 | 48245184 | C | G | stop_gained | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(75): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0001a0006c0009t0001 | a0002c0002t0001g0000 a0006c0009t0001g0000 |
78 | 436 | 0.1789 | 0 | c.81C others(2): Show |
p.Tyr others(3): Show |
OR4X2 | ENSG00000172208.7 | transcript | ENST00000624868.2 | protein_coding | 1/1 | 81/912 | 81/912 | 27/303 | chr11 | TogoVar | |||
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 | ||||||
OR51I1_chr11_5435570_5446514 | 5441472 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(81): Show |
a0003 | a0003c0003a0003c0007a0003c0018 | a0003c0003t0001a0003c0007t0001a0003c0018t0001 | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0018t0001g0000 |
84 | 470 | 0.1787 | 0 | c.43C others(2): Show |
p.Gln others(3): Show |
OR51I1 | ENSG00000167359.8 | transcript | ENST00000380211.1 | protein_coding | 1/1 | 43/945 | 43/945 | 15/314 | chr11 | TogoVar | |||
OR51I2_chr11_5444323_5461518 | 5454410 | CA | C | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp2 HG01884.hp2 others(22): Show |
a0006a0009 | a0006c0006a0009c0011 | a0006c0006t0005a0006c0006t0017a0006c0006t0023others(2): Show | a0006c0006t0005g0011 a0006c0006t0005g0017 a0006c0006t0005g0030 others(5): Show |
25 | 480 | 0.0521 | -1 | c.923 others(4): Show |
p.His others(5): Show |
OR51I2 | ENSG00000187918.6 | transcript | ENST00000641930.1 | protein_coding | 2/2 | 1195/3302 | 923/939 | 308/312 | chr11 | TogoVar | |||
OR51Q1_chr11_5417111_5428206 | 5422906 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(211): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0007 | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(1): Show | a0002c0002t0001g0000 a0002c0002t0003g0000 a0003c0003t0001g0000 others(1): Show |
214 | 452 | 0.4735 | 0 | c.706 others(3): Show |
p.Arg others(4): Show |
OR51Q1 | ENSG00000167360.6 | transcript | ENST00000300778.4 | protein_coding | 1/1 | 796/1096 | 706/954 | 236/317 | 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 | |||
OR56B2P_chr11_5756153_5774080 | 5763343 | CACTCTTG others(10730): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(56): Show |
a0002 | a0002c0000 | a0002c0000t0003 | a0002c0000t0003g0003 a0002c0000t0003g0019 |
59 | 432 | 0.1366 | -10737 | c.2-1 others(12): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | 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 | |||
OR5D16_chr11_55833752_55844738 | 55839334 | TATCTC | T | frameshift_variant | HIGH | HG01243.hp2 HG01884.hp1 HG02257.hp1 others(9): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0000 | 12 | 420 | 0.0286 | -5 | c.585 others(12): Show |
p.Tyr others(5): Show |
OR5D16 | ENSG00000205029.1 | transcript | ENST00000378396.1 | protein_coding | 1/1 | 585/987 | 585/987 | 195/328 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR5K4_chr3_98348854_98359819 | 98354747 | TA | T | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0001a0007c0009t0001 | a0002c0002t0001g0000 a0007c0009t0001g0000 |
103 | 450 | 0.2289 | -1 | c.901 others(4): Show |
p.Ile others(5): Show |
OR5K4 | ENSG00000196098.2 | transcript | ENST00000354924.2 | protein_coding | 1/1 | 901/966 | 901/966 | 301/321 | INFO_REALIGN_3_PRIME | chr3 | 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 | |||
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 | |||
PATE4_chr11_125828316_125845072 | 125837866 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(21): Show |
196 | 422 | 0.4645 | 0 | c.59- others(4): Show |
PATE4 | ENSG00000237353.7 | transcript | ENST00000457514.3 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
PCDHA8_chr5_140836187_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01106.hp1 HG01346.hp2 HG01978.hp1 others(12): Show |
a0003a0006a0012 | a0003c0003a0006c0006a0012c0010 | a0003c0003t0001a0006c0006t0001a0012c0010t0001 | a0003c0003t0001g0002 a0003c0003t0001g0006 a0003c0003t0001g0007 others(12): Show |
15 | 256 | 0.0586 | -16791 | c.123 others(15): Show |
p.Ser others(5): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/4 | 1367/5398 | 1232/2853 | 411/950 | chr5 | TogoVar | |||
PCDHGA8_chr5_141387633_141517975 | 141393331 | GC | G | frameshift_variant | HIGH | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(42): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(4): Show | a0003c0003t0001g0164 a0003c0003t0001g0258 a0003c0003t0001g0272 others(42): Show |
45 | 300 | 0.1500 | -1 | c.522 others(4): Show |
p.Asn others(5): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/4 | 703/4782 | 522/2799 | 174/932 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PEX11G_chr19_7471875_7494035 | 7477288 | C | CTA | frameshift_variant | HIGH | HG02895.hp1 HG02897.hp1 HG02976.hp1 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0024 a0004c0006t0001g0117 a0004c0006t0001g0118 |
5 | 414 | 0.0121 | 2 | c.638 others(9): Show |
p.Val others(5): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 5/5 | 664/1078 | 639/726 | 213/241 | chr19 | TogoVar | |||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show |
279 | 442 | 0.6312 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | 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 | 71999722 | AC | A | frameshift_variant | HIGH | HG01891.hp1 HG02886.hp2 HG02895.hp1 others(2): Show |
a0014 | a0014c0081a0014c0082a0014c0083others(2): Show | a0014c0081t0001a0014c0082t0001a0014c0083t0001others(2): Show | a0014c0081t0001g0292 a0014c0082t0001g0289 a0014c0083t0001g0288 others(2): Show |
5 | 306 | 0.0163 | -1 | c.256 others(4): Show |
p.Val others(4): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 1/30 | 680/5623 | 256/5199 | 86/1732 | chr16 | TogoVar | |||
PLA2R1_chr2_159927006_160067615 | 159987235 | GC | G | frameshift_variant | HIGH | HG00639.hp1 HG01261.hp1 HG02280.hp2 others(8): Show |
a0004 | a0004c0005a0004c0032 | a0004c0005t0021a0004c0005t0031a0004c0005t0051others(6): Show | a0004c0005t0021g0005 a0004c0005t0031g0022 a0004c0005t0031g0030 others(7): Show |
11 | 324 | 0.0340 | -1 | c.195 others(5): Show |
p.Ala others(5): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 12/30 | 2169/14376 | 1957/4392 | 653/1463 | chr2 | TogoVar | |||
PLCD4_chr2_218602899_218642175 | 218630691 | C | A | stop_gained | HIGH | HG02896.hp2 HG02897.hp1 NA18906.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0006 a0002c0004t0002g0026 |
3 | 296 | 0.0101 | 0 | c.116 others(4): Show |
p.Cys others(4): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 9/16 | 1366/3092 | 1161/2289 | 387/762 | chr2 | 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 | ||||||
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 | |||||||
POLH_chr6_43571185_43625523 | 43605311 | C | T | stop_gained | HIGH | HG02896.hp1 HG02897.hp1 |
a0007 | a0007c0008 | a0007c0008t0030 | a0007c0008t0030g0021 | 2 | 260 | 0.0077 | 0 | c.106 others(4): Show |
p.Arg others(4): Show |
POLH | ENSG00000170734.12 | transcript | ENST00000372236.9 | protein_coding | 9/11 | 1326/8368 | 1066/2142 | 356/713 | chr6 | 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 | |||
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 | |||||||
PPP2R3A_chr3_135960728_136152894 | 136145062 | G | GATGA | frameshift_variant others(1): Show |
HIGH | HG02630.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0213 a0007c0008t0001g0232 a0007c0008t0001g0233 others(1): Show |
4 | 236 | 0.0169 | 4 | c.335 others(13): Show |
p.Pro others(6): Show |
PPP2R3A | ENSG00000073711.11 | transcript | ENST00000264977.8 | protein_coding | 14/14 | 3917/6743 | 3355/3453 | 1119/1150 | INFO_REALIGN_3_PRIME | chr3 | 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 | |||
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 | |||
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 | |||
PSORS1C1_chr6_31109800_31145092 | 31138723 | TC | T | frameshift_variant | HIGH | HG00639.hp2 HG00642.hp1 HG00733.hp1 others(31): Show |
a0003 | a0003c0003a0003c0009 | a0003c0003t0004a0003c0003t0009a0003c0003t0011others(5): Show | a0003c0003t0004g0058 a0003c0003t0004g0059 a0003c0003t0004g0213 others(23): Show |
34 | 391 | 0.0870 | -1 | c.118 others(4): Show |
p.His others(4): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 5/6 | 438/939 | 118/459 | 40/152 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
PTPRQ_chr12_80439235_80685273 | 80484408 | T | TTTTC | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG01074.hp2 HG01192.hp2 others(31): Show |
a0003a0005a0010others(14): Show | a0003c0004a0005c0003a0005c0079others(16): Show | a0003c0004t0005a0005c0003t0001a0005c0003t0002others(20): Show | a0003c0004t0005g0091 a0005c0003t0001g0105 a0005c0003t0001g0107 others(31): Show |
34 | 176 | 0.1932 | 4 | c.118 others(17): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 8/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTTG1IP2_chr7_90464639_90518397 | 90487326 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0217 others(56): Show |
72 | 382 | 0.1885 | 0 | c.193 others(5): Show |
PTTG1IP2 | ENSG00000251154.2 | transcript | ENST00000509356.2 | protein_coding | 2/6 | chr7 | TogoVar |