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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
OR4C15_chr11_55549469_55560419 | 55555134 | CTCTCTGA others(18): Show |
C | frameshift_variant | HIGH | HG02109.hp1 HG02280.hp1 HG02572.hp2 others(5): Show |
a0005a0007 | a0005c0006a0007c0007 | a0005c0006t0000a0007c0007t0000 | a0005c0006t0000g0000a0007c0007t0000g0000 | 8 | 456 | 0.0175 | -25 | c.667 others(32): Show |
p.Ser others(5): Show |
OR4C15 | ENSG00000181939.3 | transcript | ENST00000642128.1 | protein_coding | 1/1 | 667/951 | 667/951 | 223/316 | chr11 | TogoVar | ||
OR4C16_chr11_55567128_55578060 | 55572294 | CA | C | frameshift_variant | HIGH | HG02280.hp1 HG02572.hp1 HG02896.hp2 others(5): Show |
a0005a0011 | a0005c0005a0011c0010 | a0005c0005t0000a0011c0010t0000 | a0005c0005t0000g0000a0011c0010t0000g0000 | 8 | 440 | 0.0182 | -1 | c.169 others(4): Show |
p.Met others(4): Show |
OR4C16 | ENSG00000279514.2 | transcript | ENST00000623907.1 | protein_coding | 1/1 | 169/933 | 169/933 | 57/310 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||
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 | ||
OR4X2_chr11_48240104_48251015 | 48245184 | C | G | stop_gained | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(76): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0000a0006c0009t0000 | a0002c0002t0000g0000a0006c0009t0000g0000 | 79 | 438 | 0.1804 | 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(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 | |||||
OR51I1_chr11_5435570_5446514 | 5441472 | G | A | stop_gained | HIGH | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(81): Show |
a0003 | a0003c0003a0003c0007a0003c0018 | a0003c0003t0000a0003c0007t0000a0003c0018t0000 | a0003c0003t0000g0000a0003c0007t0000g0000a0003c0018t0000g0000 | 84 | 472 | 0.1780 | 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 | ||
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 | 5852754 | ATTTTCTT others(9502): Show |
A | transcript_ablation | HIGH | HG00639.hp2 HG02257.hp1 HG02486.hp2 others(9): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 12 | 436 | 0.0275 | -9509 | c.-45 others(11): Show |
p.0? | OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | 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 | ||
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 | |
OR8G5_chr11_124251376_124271224 | 124264917 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG02895.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 2 | 432 | 0.0046 | 0 | c.-14 others(5): Show |
OR8G5 | ENSG00000255298.5 | transcript | ENST00000641992.2 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
OR8J1_chr11_56349291_56366511 | 56360693 | C | A | stop_gained | HIGH | HG02896.hp2 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0017 | 1 | 419 | 0.0024 | 0 | c.447 others(3): Show |
p.Tyr others(4): Show |
OR8J1 | ENSG00000172487.4 | transcript | ENST00000533152.3 | protein_coding | 2/2 | 502/1320 | 447/951 | 149/316 | 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 | HG02896.hp1 HG03471.hp1 |
a0005 | a0005c0027 | a0005c0027t0000 | a0005c0027t0000g0000 | 2 | 364 | 0.0055 | 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(7594): Show |
frameshift_variant others(1): Show |
HIGH | HG02896.hp2 | a0001 | a0001c0051 | a0001c0051t0000 | a0001c0051t0000g0000 | 1 | 364 | 0.0028 | 7601 | c.492 others(7608): Show |
p.Arg others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | 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 |
a0005a0012a0018 | a0005c0005a0012c0010a0018c0017 | a0005c0005t0001a0012c0010t0001a0018c0017t0001 | a0005c0005t0001g0001a0005c0005t0001g0005a0005c0005t0001g0006others(12): Show | 15 | 258 | 0.0581 | -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 | ||
PIEZO1_chr16_88710338_88790220 | 88732372 | T | TGTACAAA others(4): Show |
frameshift_variant | HIGH | HG02896.hp1 | a0064 | a0064c0096 | a0064c0096t0002 | a0064c0096t0002g0131 | 1 | 282 | 0.0036 | 11 | c.295 others(20): Show |
p.Tyr others(5): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/51 | 3209/8089 | 2953/7566 | 985/2521 | chr16 | 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 | ||
PLA2R1_chr2_159927006_160067615 | 159987235 | GC | G | frameshift_variant | HIGH | HG00639.hp1 HG01261.hp1 HG02280.hp2 others(8): Show |
a0004 | a0004c0005a0004c0032 | a0004c0005t0021a0004c0005t0031a0004c0005t0051others(6): Show | a0004c0005t0021g0023a0004c0005t0021g0024a0004c0005t0031g0017others(8): Show | 11 | 326 | 0.0337 | -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 | a0002c0004t0002g0001a0002c0004t0002g0008 | 3 | 298 | 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(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 | ||||||
PNMA6A_chrX_153067454_153080019 | 153073445 | TG | T | frameshift_variant | HIGH | HG02896.hp1 | a0010 | a0010c0012 | a0010c0012t0018 | a0010c0012t0018g0001 | 1 | 86 | 0.0116 | -1 | c.387 others(4): Show |
p.Leu others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 668/2238 | 387/1200 | 129/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073771 | TC | T | frameshift_variant | HIGH | HG02896.hp1 | a0010 | a0010c0012 | a0010c0012t0018 | a0010c0012t0018g0001 | 1 | 86 | 0.0116 | -1 | c.712 others(4): Show |
p.Gln others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 993/2238 | 712/1200 | 238/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073818 | A | AG | frameshift_variant | HIGH | HG02896.hp1 | a0010 | a0010c0012 | a0010c0012t0018 | a0010c0012t0018g0001 | 1 | 86 | 0.0116 | 1 | c.758 others(4): Show |
p.Glu others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1040/2238 | 759/1200 | 253/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153073910 | G | GT | frameshift_variant | HIGH | HG02896.hp1 | a0010 | a0010c0012 | a0010c0012t0018 | a0010c0012t0018g0001 | 1 | 86 | 0.0116 | 1 | c.848 others(8): Show |
p.Val others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1130/2238 | 849/1200 | 283/399 | chrX | TogoVar | ||
PNMA6A_chrX_153067454_153080019 | 153073945 | CT | C | frameshift_variant | HIGH | HG02896.hp1 | a0010 | a0010c0012 | a0010c0012t0018 | a0010c0012t0018g0001 | 1 | 86 | 0.0116 | -1 | c.885 others(4): Show |
p.Thr others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1166/2238 | 885/1200 | 295/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153074088 | A | AG | frameshift_variant | HIGH | HG02135.hp1 HG02896.hp1 |
a0010a0020 | a0010c0012a0020c0024 | a0010c0012t0018a0020c0024t0031 | a0010c0012t0018g0001a0020c0024t0031g0009 | 2 | 86 | 0.0233 | 1 | c.103 others(5): Show |
p.Ala others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1312/2238 | 1031/1200 | 344/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153074186 | TC | T | frameshift_variant | HIGH | HG02896.hp1 | a0010 | a0010c0012 | a0010c0012t0018 | a0010c0012t0018g0001 | 1 | 86 | 0.0116 | -1 | c.112 others(5): Show |
p.Gln others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1407/2238 | 1126/1200 | 376/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PNMA6A_chrX_153067454_153080019 | 153074225 | AG | A | frameshift_variant | HIGH | HG02896.hp1 | a0010 | a0010c0012 | a0010c0012t0018 | a0010c0012t0018g0001 | 1 | 86 | 0.0116 | -1 | c.116 others(5): Show |
p.Leu others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1448/2238 | 1167/1200 | 389/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
POLH_chr6_43571185_43625523 | 43605311 | C | T | stop_gained | HIGH | HG02896.hp1 HG02897.hp1 |
a0007 | a0007c0008 | a0007c0008t0028 | a0007c0008t0028g0017 | 2 | 262 | 0.0076 | 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 | ||
POLR3B_chr12_106352748_106515198 | 106427179 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00642.hp1 others(55): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0016 | a0001c0001t0001a0001c0001t0009a0001c0011t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(55): Show | 58 | 304 | 0.1908 | 1 | c.110 others(7): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
POMK_chr8_43088515_43128434 | 43097519 | TAAAG | T | splice_acceptor_variant others(2): Show |
HIGH | HG01192.hp1 HG01884.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0002 | a0001c0001t0002g0015a0001c0001t0002g0065a0001c0001t0002g0066others(3): Show | 8 | 276 | 0.0290 | -4 | c.-20 others(15): Show |
POMK | ENSG00000185900.11 | transcript | ENST00000331373.10 | protein_coding | 2/5 | 6023 | INFO_REALIGN_3_PRIME | chr8 | 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 | ||||||
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 | a0007c0008t0001g0212a0007c0008t0001g0231a0007c0008t0001g0232others(1): Show | 4 | 238 | 0.0168 | 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 |
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 | ||
PRH1_chr12_10875965_10889255 | 10882636 | G | A | stop_gained | HIGH | HG02258.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0010 | 5 | 397 | 0.0126 | 0 | c.163 others(3): Show |
p.Gln others(3): Show |
PRH1 | ENSG00000231887.9 | transcript | ENST00000543626.5 | protein_coding | 3/4 | 201/712 | 163/564 | 55/187 | chr12 | TogoVar | ||
PRICKLE3_chrX_49169802_49191373 | 49175858 | CG | C | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | -1 | c.166 others(5): Show |
p.Glu others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 9/9 | 1738/2795 | 1662/1848 | 554/615 | chrX | TogoVar | ||
PRICKLE3_chrX_49169802_49191373 | 49175873 | AG | A | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | -1 | c.164 others(5): Show |
p.Ser others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 9/9 | 1723/2795 | 1647/1848 | 549/615 | chrX | TogoVar | ||
PRICKLE3_chrX_49169802_49191373 | 49176105 | TG | T | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | -1 | c.141 others(5): Show |
p.Pro others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 9/9 | 1491/2795 | 1415/1848 | 472/615 | chrX | TogoVar | ||
PRICKLE3_chrX_49169802_49191373 | 49176124 | A | AT | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | 1 | c.139 others(10): Show |
p.Phe others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 9/9 | 1472/2795 | 1396/1848 | 466/615 | chrX | TogoVar | ||
PRICKLE3_chrX_49169802_49191373 | 49176168 | TG | T | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | -1 | c.135 others(5): Show |
p.Pro others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 9/9 | 1428/2795 | 1352/1848 | 451/615 | chrX | TogoVar | ||
PRICKLE3_chrX_49169802_49191373 | 49176936 | TG | T | frameshift_variant | HIGH | HG02896.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0099 | 1 | 273 | 0.0037 | -1 | c.122 others(5): Show |
p.Thr others(5): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 8/9 | 1297/2795 | 1221/1848 | 407/615 | chrX | TogoVar |