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 | 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 | ||
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 | ||
OR4C16_chr11_55567128_55578060 | 55572176 | C | T | stop_gained | HIGH | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(113): Show |
a0002 | a0002c0002a0002c0009a0002c0021others(2): Show | a0002c0002t0000a0002c0009t0000a0002c0021t0000others(2): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0002c0021t0000g0000others(2): Show | 116 | 440 | 0.2636 | 0 | c.49C others(2): Show |
p.Gln others(3): Show |
OR4C16 | ENSG00000279514.2 | transcript | ENST00000623907.1 | protein_coding | 1/1 | 49/933 | 49/933 | 17/310 | 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 | ||
OR4D1_chr17_58143384_58164585 | 58156083 | G | GT | frameshift_variant others(1): Show |
HIGH | HG00639.hp2 HG01257.hp2 HG01258.hp2 others(3): Show |
a0000 | a0000c0004 | a0000c0004t0012a0000c0004t0037 | a0000c0004t0012g0014a0000c0004t0012g0023a0000c0004t0037g0014 | 6 | 378 | 0.0159 | 1 | c.931 others(4): Show |
p.Ter others(5): Show |
OR4D1 | ENSG00000141194.7 | transcript | ENST00000268912.6 | protein_coding | 4/4 | 1627/5127 | 932/933 | 311/310 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
OR4E1_chr14_21662886_21678818 | 21670346 | TG | T | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp2 HG00639.hp2 others(17): Show |
a0004 | a0004c0004a0004c0013 | a0004c0004t0006a0004c0004t0016a0004c0013t0024 | a0004c0004t0006g0006a0004c0004t0016g0017a0004c0013t0024g0029 | 20 | 454 | 0.0441 | -1 | c.589 others(4): Show |
p.His others(5): Show |
OR4E1 | ENSG00000276240.4 | transcript | ENST00000641792.2 | protein_coding | 2/2 | 1335/3796 | 589/948 | 197/315 | chr14 | TogoVar | ||
OR4F5_chr1_60419_76585 | 69745 | C | T | stop_gained | HIGH | HG00639.hp1 | a0010 | a0010c0014 | a0010c0014t0002 | a0010c0014t0002g0045 | 1 | 215 | 0.0047 | 0 | c.718 others(3): Show |
p.Gln others(4): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 3/3 | 778/2618 | 718/981 | 240/326 | chr1 | 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 | |
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 | ||
OR52A1_chr11_5141824_5159757 | 5151565 | A | AC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(10): Show | a0002c0002t0002g0014a0002c0002t0003g0003a0002c0002t0003g0017others(17): Show | 65 | 438 | 0.1484 | 1 | c.804 others(4): Show |
p.Ser others(5): Show |
OR52A1 | ENSG00000182070.7 | transcript | ENST00000380367.3 | protein_coding | 2/2 | 1436/6178 | 804/939 | 268/312 | 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 | ||
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 | |||||
OR52J3_chr11_5041526_5052461 | 5047432 | C | T | stop_gained | HIGH | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
a0003a0005a0009 | a0003c0003a0005c0005a0009c0015 | a0003c0003t0000a0005c0005t0000a0009c0015t0000 | a0003c0003t0000g0000a0005c0005t0000g0000a0009c0015t0000g0000 | 49 | 448 | 0.1094 | 0 | c.907 others(3): Show |
p.Arg others(4): Show |
OR52J3 | ENSG00000205495.1 | transcript | ENST00000380370.1 | protein_coding | 1/1 | 907/936 | 907/936 | 303/311 | chr11 | TogoVar | ||
OR52M1_chr11_4540191_4551144 | 4545229 | CT | C | frameshift_variant | HIGH | HG00621.hp2 HG00639.hp1 HG01891.hp1 others(8): Show |
a0003 | a0003c0005a0003c0011 | a0003c0005t0000a0003c0011t0000 | a0003c0005t0000g0000a0003c0011t0000g0000 | 11 | 430 | 0.0256 | -1 | c.41d others(3): Show |
p.Phe others(4): Show |
OR52M1 | ENSG00000197790.1 | transcript | ENST00000360213.1 | protein_coding | 1/1 | 41/954 | 41/954 | 14/317 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR56B2P_chr11_5756153_5774080 | 5765197 | G | A | stop_gained | HIGH | HG00639.hp2 HG01891.hp1 HG02622.hp2 others(14): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0009a0003c0004t0021 | a0003c0004t0007g0006a0003c0004t0007g0027a0003c0004t0007g0036others(2): Show | 17 | 434 | 0.0392 | 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 | 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 | ||
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 | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(18): Show |
a0002 | a0002c0005 | a0002c0005t0000 | a0002c0005t0000g0000 | 21 | 364 | 0.0577 | 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 | HG00639.hp2 | a0001 | a0001c0047 | a0001c0047t0000 | a0001c0047t0000g0000 | 1 | 364 | 0.0028 | 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 | |
PALD1_chr10_70473767_70573450 | 70529208 | G | GCCCCCCC others(5): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00639.hp2 HG02735.hp1 |
a0001 | a0001c0006 | a0001c0006t0003a0001c0006t0016 | a0001c0006t0003g0154a0001c0006t0016g0234 | 2 | 308 | 0.0065 | 12 | c.186 others(24): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||||||
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 | ||
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 | ||
PKD1L3_chr16_71924538_72005402 | 71967237 | G | A | stop_gained | HIGH | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0004a0017others(1): Show | a0001c0001a0001c0028a0001c0062others(14): Show | a0001c0001t0001a0001c0028t0001a0001c0062t0001others(16): Show | a0001c0001t0001g0050a0001c0001t0001g0147a0001c0001t0001g0157others(84): Show | 87 | 308 | 0.2825 | 0 | c.236 others(4): Show |
p.Arg others(4): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/30 | 2789/5623 | 2365/5199 | 789/1732 | 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 | ||
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 | ||
PPIAL4D_chr1_145236415_145247174 | 145241638 | G | A | stop_gained | HIGH | HG00639.hp2 HG02451.hp2 NA21309.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 3 | 396 | 0.0076 | 0 | c.487 others(3): Show |
p.Gln others(4): Show |
PPIAL4D | ENSG00000289549.1 | transcript | ENST00000544708.3 | protein_coding | 1/1 | 537/760 | 487/495 | 163/164 | chr1 | 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 | ||
PRPF3_chr1_150316533_150358233 | 150324880 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00639.hp2 HG00733.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0022others(48): Show | 52 | 362 | 0.1437 | 3 | c.-48 others(14): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | 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 | |||||
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 | 151279866 | G | GCAGGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(87): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0002a0002c0004t0001g0012a0002c0004t0001g0013others(21): Show | 90 | 428 | 0.2103 | 5 | c.127 others(12): Show |
p.Ser others(4): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 2/5 | 144/1408 | 132/987 | 44/328 | INFO_REALIGN_3_PRIME | chr4 | 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 | ||||||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(373): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(319): Show | 376 | 416 | 0.9039 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar | ||
PSORS1C1_chr6_31109800_31145092 | 31138723 | TC | T | frameshift_variant | HIGH | HG00639.hp2 HG00642.hp1 HG00733.hp1 others(31): Show |
a0003 | a0003c0003a0003c0009 | a0003c0003t0004a0003c0003t0009a0003c0003t0011others(5): Show | a0003c0003t0004g0058a0003c0003t0004g0059a0003c0003t0004g0215others(23): Show | 34 | 449 | 0.0757 | -1 | c.118 others(4): Show |
p.His others(4): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 5/6 | 438/939 | 118/459 | 40/152 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
PTEN_chr10_87858625_87976930 | 87960876 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0009a0001c0001t0002g0144a0001c0001t0002g0211others(84): Show | 87 | 322 | 0.2702 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||||||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
RIMBP3B_chr22_21378751_21394478 | 21385815 | T | TCC | frameshift_variant | HIGH | HG00639.hp2 HG01071.hp1 HG01168.hp1 others(9): Show |
a0003a0018a0063others(1): Show | a0003c0052a0003c0053a0003c0054others(9): Show | a0003c0052t0005a0003c0053t0005a0003c0054t0001others(9): Show | a0003c0052t0005g0000a0003c0053t0005g0000a0003c0054t0001g0000others(9): Show | 12 | 118 | 0.1017 | 2 | c.195 others(11): Show |
p.Gly others(5): Show |
RIMBP3B | ENSG00000274600.2 | transcript | ENST00000620804.2 | protein_coding | 1/1 | 2068/5728 | 1960/4920 | 654/1639 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
RPL28_chr19_55380932_55397085 | 55388029 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(52): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(14): Show | a0000c0002t0001g0001a0000c0002t0001g0020a0000c0002t0002g0001others(17): Show | 55 | 314 | 0.1752 | 1 | c.307 others(4): Show |
p.Arg others(5): Show |
RPL28 | ENSG00000108107.15 | transcript | ENST00000344063.7 | protein_coding | 4/5 | 350/4209 | 308/414 | 103/137 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |