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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
OR13C2_chr9_104599671_104610627 | 104600554 | GATTGGTC others(7497): Show |
G | transcript_ablation | HIGH | NA19043.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 410 | 0.0024 | -7504 | c.-24 others(11): Show |
p.0? | OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
OR13C2_chr9_104599671_104610627 | 104605385 | CGTGGAGG others(5235): Show |
C | frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | -5242 | c.-50 others(9): Show |
p.Met others(3): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 242/957 | 1/957 | 1/318 | chr9 | 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 | |||
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0001a0012 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(13): Show |
226 | 458 | 0.4935 | 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 | a0001c0002t0001g0001 a0001c0002t0001g0046 a0001c0002t0001g0115 others(79): Show |
220 | 476 | 0.4622 | -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 | |||
OR2D2_chr11_6886574_6897500 | 6891690 | ATT | A | frameshift_variant | HIGH | HG01109.hp1 HG02109.hp2 HG02257.hp2 others(12): Show |
a0005a0011 | a0005c0006a0011c0016 | a0005c0006t0001a0011c0016t0001 | a0005c0006t0001g0000 a0011c0016t0001g0000 |
15 | 480 | 0.0313 | -2 | c.809 others(9): Show |
p.Lys others(5): Show |
OR2D2 | ENSG00000166368.3 | transcript | ENST00000299459.3 | protein_coding | 1/1 | 810/927 | 809/927 | 270/308 | chr11 | TogoVar | |||
OR2T4_chr1_248356665_248367627 | 248361985 | CTACG | C | frameshift_variant | HIGH | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(11): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 14 | 428 | 0.0327 | -4 | c.323 others(11): Show |
p.Tyr others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 323/963 | 323/963 | 108/320 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
OR2T4_chr1_248356665_248367627 | 248362026 | C | CTA | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
a0003a0004a0005 | a0003c0003a0003c0007a0003c0009others(2): Show | a0003c0003t0001a0003c0007t0001a0003c0009t0001others(2): Show | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000 others(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 | |||
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 | |||
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 | a0001c0002t0001a0001c0005t0001a0001c0008t0001others(10): Show | a0001c0002t0001g0000 a0001c0005t0001g0000 a0001c0008t0001g0000 others(10): Show |
238 | 438 | 0.5434 | -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 | ||
OR4P4_chr11_55630113_55645309 | 55638546 | C | G | stop_gained | HIGH | HG00099.hp1 HG00597.hp1 HG00597.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0008g0001 |
61 | 222 | 0.2748 | 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 | |||
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 | |||
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 | |||
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 | 5765197 | G | A | stop_gained | HIGH | HG00639.hp2 HG01891.hp1 HG02622.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0024 others(1): Show |
17 | 432 | 0.0394 | 0 | c.99G others(2): Show |
p.Trp others(3): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | 185/4068 | 99/951 | 33/316 | 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 | |||
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 | ||
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 | |||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG03225.hp2 HG03516.hp2 NA19030.hp2 others(1): Show |
a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0000 | 4 | 46 | 0.0870 | 7604 | c.590 others(7611): Show |
p.Phe others(5): 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 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0000 a0001c0013t0001g0000 |
130 | 172 | 0.7558 | 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 | ||
OVCH2_chr11_7684437_7711477 | 7695672 | T | TAAGAATG others(309): Show |
frameshift_variant others(1): Show |
HIGH | HG01243.hp2 HG02109.hp2 HG02145.hp2 others(5): Show |
a0007 | a0007c0009a0007c0038 | a0007c0009t0002a0007c0009t0004a0007c0038t0004 | a0007c0009t0002g0232 a0007c0009t0002g0250 a0007c0009t0004g0021 others(3): Show |
8 | 463 | 0.0173 | 316 | c.117 others(325): Show |
p.Ile others(5): Show |
OVCH2 | ENSG00000183378.13 | transcript | ENST00000533663.6 | protein_coding | 11/16 | 1262/1978 | 1179/1698 | 393/565 | chr11 | TogoVar | |||
PALD1_chr10_70473767_70573450 | 70529208 | G | GC | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(47): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0051 others(47): Show |
50 | 88 | 0.5682 | 1 | c.186 others(6): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PARL_chr3_183824271_183889880 | 183884808 | G | GCAGCCCC others(177): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0022 | 1 | 356 | 0.0028 | 184 | c.38_ others(189): Show |
p.Cys others(4): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/10 | 72/1501 | 38/1140 | 13/379 | chr3 | 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 | |||
PEX12_chr17_35569795_35583571 | 35576182 | CTG | C | splice_acceptor_variant others(2): Show |
HIGH | HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0015 a0001c0001t0011g0031 |
4 | 434 | 0.0092 | -2 | c.681 others(13): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2/2 | chr17 | 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 | 71999949 | C | T | stop_gained | HIGH | NA19043.hp2 | a0014 | a0014c0029 | a0014c0029t0001 | a0014c0029t0001g0001 | 1 | 306 | 0.0033 | 0 | c.30G others(2): Show |
p.Trp others(3): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 1/30 | 454/5623 | 30/5199 | 10/1732 | chr16 | TogoVar | |||
PKHD1L1_chr8_109357461_109542207 | 109438896 | G | A | splice_acceptor_variant others(1): Show |
HIGH | NA19043.hp1 | a0064 | a0064c0060 | a0064c0060t0005 | a0064c0060t0005g0036 | 1 | 280 | 0.0036 | 0 | c.376 others(6): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 31/77 | chr8 | TogoVar | |||||||
PLA2G2C_chr1_20158055_20191518 | 20175089 | G | A | stop_gained | HIGH | HG00323.hp1 HG00609.hp2 HG00621.hp2 others(81): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0001a0003c0003t0002a0003c0006t0001 | a0003c0003t0001g0002 a0003c0003t0001g0016 a0003c0003t0001g0025 others(57): 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 | |||
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 | |||||||
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 | |||
POTED_chr21_13604777_13650823 | 13628440 | TAGCC | T | frameshift_variant others(1): Show |
HIGH | HG02647.hp2 HG02970.hp1 HG02976.hp2 others(6): Show |
a0005 | a0005c0006 | a0005c0006t0009a0005c0006t0041 | a0005c0006t0009g0021 a0005c0006t0009g0205 a0005c0006t0009g0206 others(3): Show |
9 | 414 | 0.0217 | -4 | c.119 others(13): Show |
p.Pro others(5): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 7/11 | 1644/6464 | 1192/1755 | 398/584 | INFO_REALIGN_3_PRIME | chr21 | 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 | |||||||
PRAMEF13_chr1_13191188_13206409 | 13196863 | G | C | stop_gained | HIGH | HG03831.hp2 NA19043.hp2 |
a0008 | a0008c0010a0008c0011 | a0008c0010t0008a0008c0011t0008 | a0008c0010t0008g0026 a0008c0011t0008g0027 |
2 | 52 | 0.0385 | 0 | c.138 others(4): Show |
p.Ser others(4): Show |
PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 4/4 | 1488/2163 | 1385/1425 | 462/474 | chr1 | TogoVar | |||
PRAMEF13_chr1_13191188_13206409 | 13198880 | A | T | stop_gained | HIGH | HG02280.hp2 HG02602.hp2 HG02630.hp1 others(7): Show |
a0003a0005a0008others(1): Show | a0003c0005a0003c0006a0005c0012others(5): Show | a0003c0005t0003a0003c0006t0003a0005c0012t0003others(5): Show | a0003c0005t0003g0004 a0003c0006t0003g0012 a0003c0006t0003g0013 others(6): Show |
10 | 52 | 0.1923 | 0 | c.314 others(3): Show |
p.Leu others(4): Show |
PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 3/4 | 417/2163 | 314/1425 | 105/474 | chr1 | TogoVar | |||
PRAMEF13_chr1_13191188_13206409 | 13199588 | A | C | start_lost | HIGH | HG02965.hp2 HG03831.hp2 NA19043.hp2 |
a0008a0009 | a0008c0010a0008c0011a0009c0009 | a0008c0010t0008a0008c0011t0008a0009c0009t0010 | a0008c0010t0008g0026 a0008c0011t0008g0027 a0009c0009t0010g0028 |
3 | 52 | 0.0577 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
PRAMEF13 | ENSG00000279169.3 | transcript | ENST00000625019.3 | protein_coding | 2/4 | 105/2163 | 2/1425 | 1/474 | chr1 | TogoVar | |||
PRDM7_chr16_90051566_90082331 | 90064602 | CGGGGTTT others(6131): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00099.hp2 HG02145.hp2 HG02280.hp2 others(6): Show |
a0006 | a0006c0006a0006c0010 | a0006c0006t0003a0006c0006t0011a0006c0006t0022others(1): Show | a0006c0006t0003g0082 a0006c0006t0003g0084 a0006c0006t0003g0130 others(5): Show |
9 | 390 | 0.0231 | -6138 | c.302 others(16): Show |
PRDM7 | ENSG00000126856.16 | transcript | ENST00000449207.8 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
PRODH_chr22_18907781_18941293 | 18925164 | C | T | stop_gained | HIGH | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(16): Show |
a0001a0004a0008others(3): Show | a0001c0018a0001c0029a0004c0085others(5): Show | a0001c0018t0001a0001c0029t0001a0004c0085t0001others(5): Show | a0001c0018t0001g0166 a0001c0018t0001g0172 a0001c0018t0001g0173 others(10): Show |
19 | 408 | 0.0466 | 0 | c.554 others(3): Show |
p.Trp others(4): Show |
PRODH | ENSG00000100033.17 | transcript | ENST00000357068.11 | protein_coding | 4/14 | 560/2203 | 554/1803 | 185/600 | chr22 | TogoVar | |||
PRRT1B_chr9_131540523_131564815 | 131545620 | A | AGGCAGGA others(8): Show |
splice_donor_variant others(1): Show |
HIGH | HG01167.hp1 HG01891.hp2 HG02451.hp2 others(11): Show |
a0005 | a0005c0006a0005c0009 | a0005c0006t0007a0005c0006t0014a0005c0006t0022others(5): Show | a0005c0006t0007g0076 a0005c0006t0007g0077 a0005c0006t0014g0018 others(8): Show |
14 | 456 | 0.0307 | 15 | c.12_ others(22): Show |
PRRT1B | ENSG00000283526.2 | transcript | ENST00000636672.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | 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 | |||
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 | |||||||
PVALEF_chr17_81160507_81188166 | 81181121 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG02717.hp2 HG02886.hp2 HG02896.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0009a0004c0005t0017 | a0004c0005t0009g0038 a0004c0005t0009g0055 a0004c0005t0009g0078 others(2): Show |
6 | 406 | 0.0148 | 0 | c.-10 others(6): Show |
PVALEF | ENSG00000225180.8 | transcript | ENST00000637878.2 | protein_coding | 3/6 | chr17 | TogoVar |