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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0000 | a0000c0001a0000c0006a0000c0010others(1): Show | a0000c0001t0001a0000c0001t0006a0000c0001t0010others(3): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0007others(13): Show | 226 | 460 | 0.4913 | 0 | c.939 others(3): Show |
p.Ter others(11): Show |
OR1S1 | ENSG00000280204.4 | transcript | ENST00000641544.1 | protein_coding | 2/2 | 1112/1474 | 939/939 | 313/312 | chr11 | TogoVar | ||
OR2B11_chr1_247444182_247463104 | 247451959 | GA | G | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(217): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(71): Show | a0001c0002t0001g0001a0001c0002t0001g0046a0001c0002t0001g0114others(80): Show | 220 | 478 | 0.4603 | -1 | c.23d others(3): Show |
p.Phe others(3): Show |
OR2B11 | ENSG00000177535.10 | transcript | ENST00000641149.2 | protein_coding | 2/2 | 3571/6349 | 23/954 | 8/317 | chr1 | TogoVar | ||
OR2C1_chr16_3350889_3362306 | 3356756 | GT | G | frameshift_variant | HIGH | HG02027.hp2 HG02080.hp2 HG02300.hp1 others(12): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0000 | 15 | 432 | 0.0347 | -1 | c.818 others(4): Show |
p.Phe others(5): Show |
OR2C1 | ENSG00000168158.4 | transcript | ENST00000304936.4 | protein_coding | 1/1 | 870/1418 | 818/939 | 273/312 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
OR2T12_chr1_248285139_248308424 | 248295573 | CT | C | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(97): Show |
a0002 | a0002c0002a0002c0031a0002c0032others(2): Show | a0002c0002t0002a0002c0002t0026a0002c0002t0033others(7): Show | a0002c0002t0002g0002a0002c0002t0002g0004a0002c0002t0002g0011others(17): Show | 100 | 406 | 0.2463 | -1 | c.5de others(2): Show |
p.Glu others(3): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3/3 | 273/5708 | 5/963 | 2/320 | chr1 | TogoVar | ||
OR2T29_chr1_248551912_248567772 | 248559422 | G | A | stop_gained | HIGH | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(93): Show |
a0002a0021 | a0002c0002a0002c0009a0002c0013others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(13): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0008others(21): Show | 96 | 313 | 0.3067 | 0 | c.70C others(2): Show |
p.Gln others(3): Show |
OR2T29 | ENSG00000182783.6 | transcript | ENST00000641069.1 | protein_coding | 2/2 | 127/2637 | 70/948 | 24/315 | chr1 | TogoVar | ||
OR2T35_chr1_248631356_248650278 | 248638301 | T | TCA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(298): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 301 | 309 | 0.9741 | 2 | c.956 others(9): Show |
p.Ile others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 1011/2957 | 957/972 | 319/323 | chr1 | TogoVar | ||
OR2T35_chr1_248631356_248650278 | 248638643 | TCAGCACG | T | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(296): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 299 | 309 | 0.9676 | -7 | c.609 others(14): Show |
p.Cys others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 669/2957 | 609/972 | 203/323 | chr1 | TogoVar | ||
OR2T4_chr1_248356665_248367627 | 248361635 | ATGGGACT others(77): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(104): Show |
a0003a0006 | a0003c0003a0003c0009a0006c0007 | a0003c0003t0000a0003c0009t0000a0006c0007t0000 | a0003c0003t0000g0000a0003c0009t0000g0000a0006c0007t0000g0000 | 107 | 428 | 0.2500 | -84 | c.-29 others(90): Show |
p.Met others(3): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 1/963 | 1/320 | chr1 | TogoVar | |||
OR2T4_chr1_248356665_248367627 | 248362026 | C | CTA | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
a0003a0004a0005others(1): Show | a0003c0003a0003c0009a0004c0005others(2): Show | a0003c0003t0000a0003c0009t0000a0004c0005t0000others(2): Show | a0003c0003t0000g0000a0003c0009t0000g0000a0004c0005t0000g0000others(2): Show | 136 | 428 | 0.3178 | 2 | c.362 others(9): Show |
p.Met others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 363/963 | 363/963 | 121/320 | chr1 | TogoVar | ||
OR4D10_chr11_59468315_59484361 | 59478120 | G | T | stop_gained | HIGH | HG00639.hp2 HG00733.hp1 HG01106.hp2 others(39): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0002a0002c0002t0007a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0010a0002c0002t0002g0035others(4): Show | 42 | 430 | 0.0977 | 0 | c.691 others(3): Show |
p.Glu others(4): Show |
OR4D10 | ENSG00000254466.2 | transcript | ENST00000530162.2 | protein_coding | 3/3 | 1241/2482 | 691/936 | 231/311 | chr11 | TogoVar | ||
OR4L1_chr14_20055045_20065983 | 20060289 | TCATAGAT others(12): Show |
T | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(235): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0005a0001c0008others(10): Show | a0001c0002t0000a0001c0005t0000a0001c0008t0000others(10): Show | a0001c0002t0000g0000a0001c0005t0000g0000a0001c0008t0000g0000others(10): Show | 238 | 440 | 0.5409 | -19 | c.248 others(26): Show |
p.Ile others(4): Show |
OR4L1 | ENSG00000176246.1 | transcript | ENST00000315683.1 | protein_coding | 1/1 | 248/939 | 248/939 | 83/312 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
OR4M2B_chr15_21632909_21643992 | 21638388 | C | T | stop_gained | HIGH | HG00609.hp2 HG02071.hp1 HG02135.hp1 others(9): Show |
a0006 | a0006c0007a0006c0011 | a0006c0007t0001a0006c0011t0001 | a0006c0007t0001g0000a0006c0011t0001g0000 | 12 | 215 | 0.0558 | 0 | c.382 others(3): Show |
p.Arg others(4): Show |
OR4M2B | ENSG00000182974.3 | transcript | ENST00000332663.3 | protein_coding | 1/1 | 480/1084 | 382/942 | 128/313 | chr15 | TogoVar | ||
OR4P4_chr11_55630113_55645309 | 55638546 | C | G | stop_gained | HIGH | HG00099.hp1 HG00597.hp1 HG00597.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0008g0001 | 61 | 224 | 0.2723 | 0 | c.189 others(3): Show |
p.Tyr others(3): Show |
OR4P4 | ENSG00000181927.4 | transcript | ENST00000641760.1 | protein_coding | 2/2 | 323/2086 | 189/939 | 63/312 | chr11 | TogoVar | ||
OR51A4_chr11_4937831_4952605 | 4946925 | TCATGCAA others(5673): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(135): Show |
a0002a0010a0017 | a0002c0002a0010c0008a0017c0017 | a0002c0002t0001a0002c0002t0008a0002c0002t0022others(8): Show | a0002c0002t0001g0001a0002c0002t0008g0009a0002c0002t0022g0017others(8): Show | 138 | 446 | 0.3094 | -5680 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 298/4393 | chr11 | TogoVar | |||||
OR51Q1_chr11_5417111_5428206 | 5422906 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(212): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0007 | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(1): Show | a0002c0002t0001g0000a0002c0002t0003g0000a0003c0003t0001g0000others(1): Show | 215 | 454 | 0.4736 | 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(166): Show |
a0000 | a0000c0002a0000c0003a0000c0006others(2): Show | a0000c0002t0000a0000c0003t0000a0000c0006t0000others(2): Show | a0000c0002t0000g0000a0000c0003t0000g0000a0000c0006t0000g0000others(2): Show | 169 | 436 | 0.3876 | 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 | ||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0000a0001c0003t0000a0001c0005t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0001c0005t0000g0000others(2): Show | 303 | 432 | 0.7014 | 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 | ||
OR5D13_chr11_55768438_55779382 | 55774029 | C | T | stop_gained | HIGH | NA18948.hp2 NA18953.hp1 NA18982.hp2 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0000 | a0004c0004t0000g0000 | 8 | 432 | 0.0185 | 0 | c.592 others(3): Show |
p.Gln others(4): Show |
OR5D13 | ENSG00000279761.2 | transcript | ENST00000623930.1 | protein_coding | 1/1 | 592/945 | 592/945 | 198/314 | chr11 | TogoVar | ||
OR5M1_chr11_56604236_56619874 | 56613070 | CCAGA | C | frameshift_variant | HIGH | HG00140.hp1 HG00438.hp1 HG00642.hp2 others(62): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0002a0003c0003t0021a0003c0012t0002 | a0003c0003t0002g0002a0003c0003t0002g0011a0003c0003t0002g0013others(6): Show | 65 | 386 | 0.1684 | -4 | c.429 others(11): Show |
p.Cys others(5): Show |
OR5M1 | ENSG00000255012.3 | transcript | ENST00000641076.1 | protein_coding | 2/2 | 467/4302 | 429/948 | 143/315 | 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 | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(50): Show | 172 | 474 | 0.3629 | 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 | |
OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0000a0002a0003others(1): Show | a0000c0002a0000c0007a0000c0014others(3): Show | a0000c0002t0000a0000c0007t0000a0000c0014t0000others(3): Show | a0000c0002t0000g0000a0000c0007t0000g0000a0000c0014t0000g0000others(3): Show | 177 | 402 | 0.4403 | 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 |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003a0001c0002t0003g0010a0001c0002t0003g0020others(42): Show | 217 | 430 | 0.5047 | 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 |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003a0001c0002t0003g0010a0001c0002t0003g0020others(42): Show | 217 | 430 | 0.5047 | -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(348): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0000a0001c0002t0000a0001c0004t0000others(8): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0004t0000g0000others(8): Show | 351 | 437 | 0.8032 | 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 | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7598): Show |
stop_gained others(1): Show |
HIGH | NA18948.hp2 NA18953.hp2 NA18982.hp2 others(7): Show |
a0002 | a0002c0006 | a0002c0006t0000 | a0002c0006t0000g0000 | 10 | 364 | 0.0275 | 7605 | c.590 others(7612): Show |
p.Leu others(7618): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7598): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0000a0001c0013t0000 | a0001c0001t0000g0000a0001c0013t0000g0000 | 130 | 364 | 0.3571 | 7605 | c.492 others(7612): Show |
p.Phe others(7618): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
P2RX5_chr17_3668227_3701155 | 3690982 | TG | T | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(206): Show | 219 | 362 | 0.6050 | -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 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(21): Show | 196 | 424 | 0.4623 | 0 | c.59- others(4): Show |
PATE4 | ENSG00000237353.7 | transcript | ENST00000457514.3 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
PGBD1_chr6_28276572_28307549 | 28301883 | C | T | stop_gained | HIGH | NA18982.hp2 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0045 | 1 | 408 | 0.0025 | 0 | c.202 others(4): Show |
p.Arg others(4): Show |
PGBD1 | ENSG00000137338.6 | transcript | ENST00000682144.1 | protein_coding | 7/7 | 2414/3080 | 2029/2430 | 677/809 | chr6 | TogoVar | ||
PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(166): Show |
a0000 | a0000c0002a0000c0005a0000c0010 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(16): Show | a0000c0002t0001g0001a0000c0002t0001g0003a0000c0002t0001g0004others(162): Show | 169 | 398 | 0.4246 | 1 | c.331 others(4): Show |
p.Val others(5): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 5/5 | 1134/1481 | 331/429 | 111/142 | chr15 | TogoVar | ||
PHF8_chrX_53931680_54049473 | 54014491 | T | TG | frameshift_variant | HIGH | NA18982.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0087 | 1 | 186 | 0.0054 | 1 | c.668 others(8): Show |
p.Glu others(5): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 7/22 | 1472/6357 | 668/3075 | 223/1024 | chrX | TogoVar | ||
PHF8_chrX_53931680_54049473 | 54016637 | T | TC | frameshift_variant | HIGH | NA18982.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0087 | 1 | 186 | 0.0054 | 1 | c.553 others(4): Show |
p.Glu others(5): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 6/22 | 1357/6357 | 553/3075 | 185/1024 | chrX | TogoVar | ||
PLA2G2C_chr1_20158055_20191518 | 20175089 | G | A | stop_gained | HIGH | HG00323.hp1 HG00609.hp2 HG00621.hp2 others(81): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0003t0002a0003c0007t0001 | a0003c0003t0001g0002a0003c0003t0001g0015a0003c0003t0001g0023others(59): Show | 84 | 406 | 0.2069 | 0 | c.97C others(2): Show |
p.Arg others(3): Show |
PLA2G2C | ENSG00000187980.7 | transcript | ENST00000679259.1 | protein_coding | 3/5 | 332/1621 | 97/450 | 33/149 | chr1 | TogoVar | ||
PLEC_chr8_143910153_143978529 | 143925061 | G | GC | frameshift_variant | HIGH | HG00423.hp2 HG00673.hp1 HG01192.hp1 others(19): Show |
a0006a0009a0022others(6): Show | a0006c0014a0006c0034a0006c0150others(14): Show | a0006c0014t0001a0006c0034t0001a0006c0150t0002others(14): Show | a0006c0014t0001g0007a0006c0014t0001g0199a0006c0014t0001g0259others(19): Show | 22 | 302 | 0.0729 | 1 | c.482 others(5): Show |
p.Ala others(6): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 31/32 | 4882/14683 | 4825/13602 | 1609/4533 | chr8 | TogoVar | ||
PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(334): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(332): Show | 337 | 376 | 0.8963 | 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 |
a0001a0006a0007others(2): Show | a0001c0001a0001c0016a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(160): Show | 210 | 430 | 0.4884 | 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(209): Show |
a0000 | a0000c0002a0000c0004a0000c0005others(6): Show | a0000c0002t0002a0000c0002t0003a0000c0002t0004others(25): Show | a0000c0002t0002g0003a0000c0002t0002g0007a0000c0002t0002g0014others(183): Show | 212 | 423 | 0.5012 | -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 | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0006others(80): Show | 88 | 382 | 0.2304 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0005others(36): Show | a0002c0002a0003c0003a0005c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0005c0005t0002others(47): Show | a0002c0002t0002g0008a0002c0002t0002g0049a0002c0002t0002g0050others(99): Show | 128 | 422 | 0.3033 | 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 |
a0001a0003a0022others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0034others(62): Show | 245 | 417 | 0.5875 | 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 | ||
PRPF3_chr1_150316533_150358233 | 150324880 | C | CTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(297): Show | 306 | 362 | 0.8453 | 4 | c.-48 others(15): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRR12_chr19_49586182_49631439 | 49596852 | A | AC | frameshift_variant | HIGH | HG00735.hp2 HG01099.hp2 HG01175.hp1 others(6): Show |
a0003a0004 | a0003c0005a0004c0011 | a0003c0005t0001a0004c0011t0001a0004c0011t0002 | a0003c0005t0001g0009a0003c0005t0001g0216a0003c0005t0001g0232others(6): Show | 9 | 322 | 0.0280 | 1 | c.252 others(5): Show |
p.Pro others(5): Show |
PRR12 | ENSG00000126464.15 | transcript | ENST00000418929.7 | protein_coding | 4/14 | 2996/7416 | 2523/6111 | 841/2036 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
PRR23D1_chr8_7534627_7547450 | 7541827 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(2): Show | a0000c0001t0003a0000c0001t0004a0000c0001t0006others(8): Show | a0000c0001t0003g0001a0000c0001t0003g0012a0000c0001t0004g0001others(11): Show | 60 | 166 | 0.3615 | -1 | c.790 others(4): Show |
p.Val others(5): Show |
PRR23D1 | ENSG00000255251.2 | transcript | ENST00000533250.2 | protein_coding | 4/4 | 968/1588 | 790/840 | 264/279 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0005others(4): Show | a0000c0001t0002a0000c0001t0004a0000c0001t0005others(6): Show | a0000c0001t0002g0001a0000c0001t0002g0008a0000c0001t0002g0010others(100): Show | 325 | 428 | 0.7594 | 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 | ||
PSG4_chr19_43187702_43210638 | 43204252 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show |
a0002a0014a0018others(1): Show | a0002c0002a0014c0020a0018c0038others(1): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0017others(4): Show | a0002c0002t0003g0001a0002c0002t0003g0021a0002c0002t0003g0162others(22): Show | 42 | 300 | 0.1400 | 0 | c.65- others(4): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
PSORS1C1_chr6_31109800_31145092 | 31138723 | T | TC | frameshift_variant | HIGH | HG00423.hp1 HG00733.hp2 HG00735.hp1 others(54): Show |
a0004a0006 | a0004c0005a0006c0006a0006c0013 | a0004c0005t0001a0004c0005t0003a0004c0005t0005others(4): Show | a0004c0005t0001g0090a0004c0005t0001g0195a0004c0005t0001g0205others(25): Show | 57 | 449 | 0.1270 | 1 | c.118 others(4): Show |
p.His others(4): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 5/6 | 439/939 | 119/459 | 40/152 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
PTTG1IP2_chr7_90464639_90518397 | 90487326 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0235others(58): Show | 72 | 384 | 0.1875 | 0 | c.193 others(5): Show |
PTTG1IP2 | ENSG00000251154.2 | transcript | ENST00000509356.2 | protein_coding | 2/6 | chr7 | TogoVar | ||||||
PYGL_chr14_50900217_50949483 | 50911872 | CT | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0010a0001c0001t0002g0100a0001c0001t0002g0114others(188): Show | 253 | 390 | 0.6487 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | ||||||
RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(111): Show | 147 | 378 | 0.3889 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | ||||||
RFPL1_chr22_29433583_29447455 | 29441895 | C | T | stop_gained | HIGH | HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show |
a0003a0005a0011 | a0003c0003a0005c0009a0011c0012 | a0003c0003t0003a0005c0009t0003a0011c0012t0003 | a0003c0003t0003g0005a0003c0003t0003g0008a0003c0003t0003g0014others(4): Show | 35 | 444 | 0.0788 | 0 | c.727 others(3): Show |
p.Gln others(4): Show |
RFPL1 | ENSG00000128250.5 | transcript | ENST00000354373.2 | protein_coding | 2/2 | 936/1496 | 727/954 | 243/317 | chr22 | TogoVar |