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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR1J2_chr9_122505802_122516743 | 122511106 | A | AT | frameshift_variant | HIGH | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(12): Show |
a0004 | a0004c0004a0004c0012 | a0004c0004t0000a0004c0012t0000 | a0004c0004t0000g0000a0004c0012t0000g0000 | 15 | 468 | 0.0321 | 1 | c.312 others(4): Show |
p.Ile others(5): Show |
OR1J2 | ENSG00000197233.7 | transcript | ENST00000335302.5 | protein_coding | 1/1 | 313/942 | 313/942 | 105/313 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
OR1R1P_chr17_3380930_3391874 | 3385989 | A | AACAG | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001 | a0001c0001a0001c0010a0001c0011others(3): Show | a0001c0001t0000a0001c0010t0000a0001c0011t0000others(3): Show | a0001c0001t0000g0000a0001c0010t0000g0000a0001c0011t0000g0000others(3): Show | 201 | 416 | 0.4832 | 4 | c.63_ others(9): Show |
p.Ala others(4): Show |
OR1R1P | ENSG00000180042.5 | transcript | ENST00000572493.2 | protein_coding | 1/1 | 67/945 | 67/945 | 23/314 | INFO_REALIGN_3_PRIME | chr17 | 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 | ||
OR2L8_chr1_247943858_247954796 | 247949724 | T | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0000a0001c0002t0000a0001c0006t0000others(4): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0006t0000g0000others(4): Show | 276 | 379 | 0.7282 | 0 | c.867 others(3): Show |
p.Tyr others(4): Show |
OR2L8 | ENSG00000279263.1 | transcript | ENST00000623922.1 | protein_coding | 1/1 | 867/939 | 867/939 | 289/312 | chr1 | 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 | ||
OR2T27_chr1_248644838_248660528 | 248650008 | T | TA | frameshift_variant | HIGH | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(19): Show |
a0009a0010a0016others(7): Show | a0009c0010a0010c0015a0010c0051others(8): Show | a0009c0010t0004a0010c0015t0004a0010c0015t0011others(9): Show | a0009c0010t0004g0010a0010c0015t0004g0024a0010c0015t0011g0128others(10): Show | 22 | 384 | 0.0573 | 1 | c.876 others(4): Show |
p.Arg others(5): Show |
OR2T27 | ENSG00000187701.5 | transcript | ENST00000460972.4 | protein_coding | 2/2 | 965/1136 | 876/954 | 292/317 | chr1 | TogoVar | ||
OR2T2_chr1_248440637_248460725 | 248446506 | AGATGGGC others(93): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0018 | a0003c0004t0007g0021a0003c0004t0007g0118a0003c0004t0007g0119others(3): Show | 8 | 329 | 0.0243 | -100 | c.-44 others(112): Show |
OR2T2 | ENSG00000196240.6 | transcript | ENST00000641925.2 | protein_coding | 2/4 | 6185 | INFO_REALIGN_3_PRIME | 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 | 248362336 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(155): Show |
a0001a0010 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0000a0001c0011t0000a0001c0014t0000others(1): Show | a0001c0001t0000g0000a0001c0011t0000g0000a0001c0014t0000g0000others(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 | ||
OR4D6_chr11_59451961_59462905 | 59457656 | GC | G | frameshift_variant | HIGH | HG00642.hp2 HG01099.hp1 HG01109.hp2 others(20): Show |
a0005a0010 | a0005c0005a0010c0011 | a0005c0005t0000a0010c0011t0000 | a0005c0005t0000g0000a0010c0011t0000g0000 | 23 | 422 | 0.0545 | -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 | 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 | |
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(224): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0005a0002c0007others(7): Show | a0002c0002t0000a0002c0005t0000a0002c0007t0000others(7): Show | a0002c0002t0000g0000a0002c0005t0000g0000a0002c0007t0000g0000others(7): Show | 227 | 402 | 0.5647 | 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 | ||
OR51F1_chr11_4763979_4774938 | 4769643 | CG | C | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(62): Show |
a0002a0007 | a0002c0003a0002c0004a0002c0005others(8): Show | a0002c0003t0000a0002c0004t0000a0002c0005t0000others(8): Show | a0002c0003t0000g0000a0002c0004t0000g0000a0002c0005t0000g0000others(8): Show | 65 | 342 | 0.1901 | -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 | 5454201 | T | TCA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(53): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0025a0003c0003t0027others(2): Show | a0003c0003t0003g0001a0003c0003t0003g0024a0003c0003t0003g0038others(14): Show | 56 | 482 | 0.1162 | 2 | c.714 others(9): Show |
p.Asn others(5): Show |
OR51I2 | ENSG00000187918.6 | transcript | ENST00000641930.1 | protein_coding | 2/2 | 988/3302 | 716/939 | 239/312 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR52B4_chr11_4362263_4373386 | 4368174 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(171): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0000a0002c0002t0004g0000 | 174 | 466 | 0.3734 | -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 | ||
OR5AR1_chr11_56658686_56669618 | 56664617 | A | T | stop_lost others(1): Show |
HIGH | HG01109.hp2 HG02145.hp2 |
a0000 | a0000c0007 | a0000c0007t0000 | a0000c0007t0000g0000 | 2 | 432 | 0.0046 | 0 | c.932 others(3): Show |
p.Ter others(11): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 932/933 | 932/933 | 311/310 | chr11 | TogoVar | ||
OR5M11_chr11_56537340_56548257 | 56542880 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG01433.hp1 others(5): Show |
a0004a0009 | a0004c0005a0009c0012 | a0004c0005t0000a0009c0012t0000 | a0004c0005t0000g0000a0009c0012t0000g0000 | 8 | 428 | 0.0187 | 0 | c.378 others(3): Show |
p.Tyr others(4): Show |
OR5M11 | ENSG00000255223.5 | transcript | ENST00000528616.5 | protein_coding | 1/1 | 378/918 | 378/918 | 126/305 | 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 | |
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 | a0003c0003t0007g0001a0003c0003t0015g0002a0003c0003t0015g0007others(5): Show | 19 | 422 | 0.0450 | -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 | ||
OR6C74_chr12_55239609_55261625 | 55247471 | C | T | stop_gained | HIGH | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(72): Show |
a0002a0005 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0006a0002c0002t0009a0002c0002t0013others(14): Show | a0002c0002t0006g0004a0002c0002t0009g0005a0002c0002t0013g0007others(14): Show | 75 | 340 | 0.2206 | 0 | c.184 others(3): Show |
p.Arg others(3): Show |
OR6C74 | ENSG00000197706.5 | transcript | ENST00000343399.5 | protein_coding | 2/2 | 402/9556 | 184/939 | 62/312 | 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 | ||
OR7G3_chr19_9121012_9131950 | 9126293 | G | A | stop_gained | HIGH | HG00673.hp2 HG01884.hp2 HG02145.hp2 others(12): Show |
a0003a0005 | a0003c0004a0005c0006 | a0003c0004t0000a0005c0006t0000 | a0003c0004t0000g0000a0005c0006t0000g0000 | 15 | 402 | 0.0373 | 0 | c.658 others(3): Show |
p.Arg others(4): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 658/939 | 658/939 | 220/312 | chr19 | TogoVar | ||
OR8G1_chr11_124236095_124259364 | 124249871 | CT | C | frameshift_variant | HIGH | HG01891.hp1 HG02145.hp1 HG02723.hp1 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0003a0004c0006t0014a0004c0006t0036others(1): Show | a0004c0006t0003g0056a0004c0006t0014g0014a0004c0006t0036g0014others(1): Show | 7 | 430 | 0.0163 | -1 | c.197 others(4): Show |
p.Leu others(4): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 563/5055 | 197/936 | 66/311 | chr11 | 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(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG02145.hp2 | a0002 | a0002c0028 | a0002c0028t0000 | a0002c0028t0000g0000 | 1 | 364 | 0.0028 | 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(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG02145.hp1 HG02451.hp1 others(2): Show |
a0004 | a0004c0009 | a0004c0009t0000 | a0004c0009t0000g0000 | 5 | 364 | 0.0137 | 7610 | c.590 others(7617): 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 | |
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 |
a0008 | a0008c0009a0008c0038 | a0008c0009t0002a0008c0009t0004a0008c0038t0004 | a0008c0009t0002g0232a0008c0009t0002g0250a0008c0009t0004g0021others(3): Show | 8 | 476 | 0.0168 | 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 | ||
OXSM_chr3_25785090_25799531 | 25794492 | T | C | stop_lost | HIGH | HG01891.hp1 HG02145.hp2 HG02258.hp1 others(11): Show |
a0000 | a0000c0003a0000c0005 | a0000c0003t0001a0000c0003t0005a0000c0005t0001 | a0000c0003t0001g0004a0000c0003t0005g0004a0000c0005t0001g0004 | 14 | 382 | 0.0367 | 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 | ||
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 | ||||||
PBOV1_chr6_138210986_138223491 | 138218046 | A | AG | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(87): Show |
a0000 | a0000c0002a0000c0004 | a0000c0002t0002a0000c0002t0005a0000c0002t0009others(3): Show | a0000c0002t0002g0000a0000c0002t0005g0000a0000c0002t0009g0000others(3): Show | 90 | 384 | 0.2344 | 1 | c.349 others(4): Show |
p.Leu others(5): Show |
PBOV1 | ENSG00000254440.3 | transcript | ENST00000527246.3 | protein_coding | 1/1 | 445/2506 | 349/408 | 117/135 | chr6 | TogoVar | ||
PDZD4_chrX_153797166_153835544 | 153803828 | A | AC | frameshift_variant | HIGH | HG02056.hp1 HG02080.hp2 HG02145.hp1 others(5): Show |
a0002a0003a0004others(1): Show | a0002c0007a0003c0005a0003c0018others(2): Show | a0002c0007t0001a0003c0005t0001a0003c0005t0004others(3): Show | a0002c0007t0001g0037a0002c0007t0001g0081a0003c0005t0001g0095others(5): Show | 8 | 281 | 0.0285 | 1 | c.185 others(5): Show |
p.Val others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 2098/3761 | 1852/2328 | 618/775 | chrX | TogoVar | ||
PDZD4_chrX_153797166_153835544 | 153804120 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG00741.hp2 HG02056.hp1 others(6): Show |
a0002 | a0002c0003a0002c0007a0002c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0006others(5): Show | a0002c0003t0001g0122a0002c0003t0002g0153a0002c0003t0006g0198others(6): Show | 9 | 281 | 0.0320 | 1 | c.156 others(5): Show |
p.Ala others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 1806/3761 | 1560/2328 | 520/775 | chrX | TogoVar | ||
PEBP4_chr8_22708251_22932914 | 22713394 | GT | G | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(74): Show |
a0003a0004a0006others(5): Show | a0003c0003a0003c0011a0003c0013others(9): Show | a0003c0003t0003a0003c0003t0004a0003c0003t0010others(15): Show | a0003c0003t0003g0034a0003c0003t0003g0036a0003c0003t0003g0040others(74): Show | 77 | 278 | 0.2770 | -1 | c.659 others(4): Show |
p.Asn others(5): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 7/7 | 757/901 | 659/684 | 220/227 | chr8 | TogoVar | ||
PHLDA3_chr1_201459278_201474188 | 201468544 | GCCGCCCC others(33): Show |
G | frameshift_variant | HIGH | HG02145.hp2 | a0004 | a0004c0005 | a0004c0005t0025 | a0004c0005t0025g0058 | 1 | 442 | 0.0023 | -40 | c.203 others(47): Show |
p.Gly others(4): Show |
PHLDA3 | ENSG00000174307.7 | transcript | ENST00000367311.5 | protein_coding | 1/2 | 644/2749 | 203/384 | 68/127 | chr1 | TogoVar | ||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(208): Show | 280 | 446 | 0.6278 | 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 | a0003c0004a0003c0016a0003c0072others(16): Show | a0003c0004t0001a0003c0016t0001a0003c0072t0001others(16): Show | a0003c0004t0001g0033a0003c0004t0001g0146a0003c0004t0001g0159others(61): Show | 64 | 308 | 0.2078 | -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 | ||
PKD1_chr16_2083708_2140898 | 2103757 | C | CG | frameshift_variant | HIGH | HG01069.hp2 HG01099.hp1 HG01346.hp2 others(11): Show |
a0003a0023a0030others(4): Show | a0003c0042a0003c0043a0003c0076others(11): Show | a0003c0042t0012a0003c0043t0001a0003c0076t0001others(11): Show | a0003c0042t0012g0203a0003c0043t0001g0206a0003c0076t0001g0025others(11): Show | 14 | 216 | 0.0648 | 1 | c.829 others(5): Show |
p.Arg others(6): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 23/46 | 8508/14140 | 8299/12912 | 2767/4303 | chr16 | TogoVar | ||
PKHD1L1_chr8_109357461_109542207 | 109419112 | C | A | stop_gained | HIGH | HG02145.hp2 | a0035 | a0035c0032 | a0035c0032t0004 | a0035c0032t0004g0157 | 1 | 282 | 0.0036 | 0 | c.237 others(4): Show |
p.Cys others(4): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 22/78 | 2496/19969 | 2376/12732 | 792/4243 | chr8 | TogoVar | ||
PKN1_chr19_14428306_14476859 | 14470639 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG02055.hp1 HG02055.hp2 others(11): Show |
a0004a0005a0013 | a0004c0033a0005c0009a0005c0021others(4): Show | a0004c0033t0001a0005c0009t0001a0005c0009t0003others(5): Show | a0004c0033t0001g0290a0005c0009t0001g0045a0005c0009t0001g0054others(11): Show | 14 | 376 | 0.0372 | 1 | c.250 others(5): Show |
p.Arg others(5): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 20/22 | 2723/3120 | 2507/2829 | 836/942 | INFO_REALIGN_3_PRIME | chr19 | 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_143944597 | 143925061 | G | GC | frameshift_variant | HIGH | HG00609.hp1 HG00673.hp1 HG01192.hp1 others(25): Show |
a0005a0011a0024others(6): Show | a0005c0011a0005c0038a0005c0171others(18): Show | a0005c0011t0001a0005c0038t0001a0005c0171t0008others(18): Show | a0005c0011t0001g0019a0005c0011t0001g0045a0005c0011t0001g0163others(23): Show | 28 | 358 | 0.0782 | 1 | c.486 others(5): Show |
p.Ala others(6): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000345136.8 | protein_coding | 31/32 | 5003/14804 | 4867/13644 | 1623/4547 | chr8 | 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 | 1531737 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG01106.hp2 HG01192.hp2 HG02145.hp2 others(3): Show |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0063a0005c0006t0025a0005c0006t0036others(1): Show | a0004c0004t0063g0324a0005c0006t0025g0044a0005c0006t0025g0323others(2): Show | 6 | 430 | 0.0140 | 0 | c.569 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
PML_chr15_73989716_74052827 | 74023135 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00738.hp1 HG00738.hp2 others(17): Show |
a0003 | a0003c0003a0003c0006a0003c0008others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(7): Show | a0003c0003t0001g0001a0003c0003t0001g0007a0003c0003t0001g0008others(17): Show | 20 | 342 | 0.0585 | 1 | c.912 others(4): Show |
p.Tyr others(5): Show |
PML | ENSG00000140464.20 | transcript | ENST00000268058.8 | protein_coding | 3/9 | 1010/5565 | 913/2649 | 305/882 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
PPEF2_chr4_75854867_75907452 | 75873297 | A | AC | frameshift_variant | HIGH | HG02145.hp2 HG02809.hp2 HG02970.hp1 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0204a0006c0007t0003g0205a0006c0007t0003g0207others(1): Show | 4 | 270 | 0.0148 | 1 | c.133 others(5): Show |
p.Trp others(5): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 12/17 | 1616/3343 | 1335/2262 | 445/753 | chr4 | 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 |