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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | 5454201 | T | TCA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(52): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0025a0003c0003t0027others(1): Show | a0003c0003t0003g0001 a0003c0003t0003g0024 a0003c0003t0003g0040 others(13): Show |
55 | 480 | 0.1146 | 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(170): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0000 a0002c0002t0004g0000 |
173 | 464 | 0.3728 | -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 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 2 | 430 | 0.0047 | 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 |
a0004a0008 | a0004c0005a0008c0012 | a0004c0005t0001a0008c0012t0001 | a0004c0005t0001g0000 a0008c0012t0001g0000 |
8 | 426 | 0.0188 | 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 | 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 | ||
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 | a0003c0003t0007g0001 a0003c0003t0015g0002 a0003c0003t0015g0007 others(5): Show |
19 | 420 | 0.0452 | -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(71): Show |
a0002a0006 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0006a0002c0002t0009a0002c0002t0013others(14): Show | a0002c0002t0006g0004 a0002c0002t0009g0005 a0002c0002t0013g0007 others(14): Show |
74 | 338 | 0.2189 | 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 |
a0002a0003a0004others(2): Show | a0002c0002a0002c0014a0003c0003others(3): Show | a0002c0002t0001a0002c0014t0001a0003c0003t0001others(3): Show | a0002c0002t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 others(3): Show |
177 | 400 | 0.4425 | 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 |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0001a0005c0006t0001 | a0004c0004t0001g0000 a0005c0006t0001g0000 |
15 | 400 | 0.0375 | 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 | a0004c0006t0003a0004c0006t0013a0004c0006t0031others(1): Show | a0004c0006t0003g0055 a0004c0006t0013g0015 a0004c0006t0031g0015 others(1): Show |
7 | 428 | 0.0164 | -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 |
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 | HG02145.hp2 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0000 | 1 | 43 | 0.0233 | 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 | a0004c0009t0001 | a0004c0009t0001g0000 | 5 | 47 | 0.1064 | 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 |
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 | |||
OXSM_chr3_25785090_25799531 | 25794492 | T | C | stop_lost | HIGH | HG01891.hp1 HG02145.hp2 HG02258.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0006a0002c0004t0002 | a0001c0001t0002g0004 a0001c0001t0006g0004 a0002c0004t0002g0004 |
14 | 380 | 0.0368 | 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 |
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 | |||||||
PBOV1_chr6_138210986_138223491 | 138218046 | A | AG | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(86): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0002c0002t0005a0002c0002t0009others(3): Show | a0002c0002t0002g0000 a0002c0002t0005g0000 a0002c0002t0009g0000 others(3): Show |
89 | 382 | 0.2330 | 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 |
a0002a0003 | a0002c0006a0003c0004a0003c0014 | a0002c0006t0001a0003c0004t0001a0003c0004t0003others(2): Show | a0002c0006t0001g0037 a0002c0006t0001g0080 a0003c0004t0001g0059 others(5): Show |
8 | 279 | 0.0287 | 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 | a0002c0003a0002c0006a0002c0007 | a0002c0003t0001a0002c0003t0003a0002c0003t0006others(4): Show | a0002c0003t0001g0106 a0002c0003t0003g0138 a0002c0003t0006g0140 others(6): Show |
9 | 279 | 0.0323 | 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 |
a0003a0004a0009others(3): Show | a0003c0004a0003c0007a0003c0008others(9): Show | a0003c0004t0003a0003c0004t0004a0003c0007t0003others(15): Show | a0003c0004t0003g0050 a0003c0004t0003g0052 a0003c0004t0003g0053 others(74): Show |
77 | 276 | 0.2790 | -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 | 440 | 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(276): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show |
279 | 442 | 0.6312 | 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 | 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 | |||
PKD1_chr16_2083708_2140898 | 2103757 | C | CG | frameshift_variant | HIGH | HG01069.hp2 HG01099.hp1 HG01346.hp2 others(11): Show |
a0003a0029a0040others(3): Show | a0003c0042a0003c0043a0003c0076others(11): Show | a0003c0042t0011a0003c0043t0001a0003c0076t0001others(11): Show | a0003c0042t0011g0203 a0003c0043t0001g0206 a0003c0076t0001g0025 others(11): Show |
14 | 213 | 0.0657 | 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 | a0037 | a0037c0032 | a0037c0032t0004 | a0037c0032t0004g0154 | 1 | 280 | 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 |
a0004a0005a0010 | a0004c0032a0005c0009a0005c0021others(4): Show | a0004c0032t0001a0005c0009t0001a0005c0009t0003others(5): Show | a0004c0032t0001g0287 a0005c0009t0001g0014 a0005c0009t0001g0050 others(11): Show |
14 | 374 | 0.0374 | 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 | 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 | |||
PLEC_chr8_143910153_143944597 | 143925061 | G | GC | frameshift_variant | HIGH | HG00609.hp1 HG00673.hp1 HG01192.hp1 others(25): Show |
a0005a0010a0021others(6): Show | a0005c0011a0005c0038a0005c0171others(18): Show | a0005c0011t0001a0005c0038t0001a0005c0171t0008others(18): Show | a0005c0011t0001g0018 a0005c0011t0001g0044 a0005c0011t0001g0161 others(23): Show |
28 | 356 | 0.0787 | 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 |
a0006a0008a0021others(6): Show | a0006c0014a0006c0034a0006c0150others(14): Show | a0006c0014t0001a0006c0034t0001a0006c0150t0002others(14): Show | a0006c0014t0001g0008 a0006c0014t0001g0200 a0006c0014t0001g0258 others(19): Show |
22 | 300 | 0.0733 | 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(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 | 1531737 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG01106.hp2 HG01192.hp2 HG02145.hp2 others(3): Show |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0063a0005c0006t0025a0005c0006t0036others(1): Show | a0004c0004t0063g0311 a0005c0006t0025g0047 a0005c0006t0025g0310 others(2): Show |
6 | 428 | 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 | a0003c0003t0001g0001 a0003c0003t0001g0007 a0003c0003t0001g0008 others(17): Show |
20 | 340 | 0.0588 | 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 | a0006c0007t0003g0202 a0006c0007t0003g0203 a0006c0007t0003g0205 others(1): Show |
4 | 268 | 0.0149 | 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 | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(80): Show |
88 | 380 | 0.2316 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
PRAG1_chr8_8312736_8391439 | 8318852 | C | CG | frameshift_variant | HIGH | HG00621.hp2 HG00642.hp2 HG01099.hp1 others(8): Show |
a0009a0017a0022others(4): Show | a0009c0012a0017c0048a0017c0052others(5): Show | a0009c0012t0002a0017c0048t0004a0017c0052t0001others(5): Show | a0009c0012t0002g0029 a0009c0012t0002g0079 a0009c0012t0002g0114 others(8): Show |
11 | 334 | 0.0329 | 1 | c.352 others(5): Show |
p.Ala others(6): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 6/6 | 3728/4845 | 3522/4221 | 1174/1406 | chr8 | TogoVar | |||
PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0004others(23): Show | a0002c0002a0003c0003a0004c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0004c0005t0002others(47): Show | a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 others(96): Show |
128 | 420 | 0.3048 | 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 | |||
PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0006others(5): Show | a0003c0003a0003c0028a0005c0005others(7): Show | a0003c0003t0002a0003c0028t0002a0005c0005t0002others(7): Show | a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 others(12): Show |
80 | 442 | 0.1810 | 1 | c.848 others(4): Show |
p.His others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 886/1227 | 848/1056 | 283/351 | chr12 | 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 | |||
PSG8_chr19_42749233_42770678 | 42763988 | AG | A | frameshift_variant | HIGH | HG00280.hp1 HG00609.hp2 HG00738.hp2 others(33): Show |
a0003a0009a0011others(3): Show | a0003c0003a0003c0005a0003c0013others(6): Show | a0003c0003t0001a0003c0005t0001a0003c0013t0001others(6): Show | a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0157 others(17): Show |
36 | 436 | 0.0826 | -1 | c.357 others(4): Show |
p.Tyr others(5): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 2/5 | 454/1440 | 357/1281 | 119/426 | chr19 | TogoVar | |||
PTGER3_chr1_70965782_71052816 | 71046878 | AGGCAGAG others(42): Show |
A | frameshift_variant | HIGH | HG02145.hp1 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0344 | 1 | 370 | 0.0027 | -49 | c.651 others(56): Show |
p.Gly others(5): Show |
PTGER3 | ENSG00000050628.21 | transcript | ENST00000306666.10 | protein_coding | 1/4 | 938/2360 | 651/1173 | 217/390 | chr1 | TogoVar | |||
PTPN23_chr3_47376021_47418435 | 47411089 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show |
a0002a0004a0005others(6): Show | a0002c0004a0002c0008a0002c0009others(17): Show | a0002c0004t0001a0002c0008t0001a0002c0008t0003others(18): Show | a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show |
135 | 330 | 0.4091 | 1 | c.329 others(5): Show |
p.Arg others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3373/5237 | 3297/4911 | 1099/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
PYGL_chr14_50900217_50949483 | 50911872 | CT | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show |
253 | 388 | 0.6521 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | |||||||
R3HDM1_chr2_135526484_135730269 | 135724075 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG01175.hp2 HG01192.hp1 others(9): Show |
a0005a0006a0007others(1): Show | a0005c0006a0006c0005a0007c0007others(1): Show | a0005c0006t0001a0005c0006t0003a0006c0005t0001others(3): Show | a0005c0006t0001g0010 a0005c0006t0001g0022 a0005c0006t0001g0126 others(9): Show |
12 | 229 | 0.0524 | 1 | c.319 others(5): Show |
p.Leu others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 3593/4781 | 3194/3405 | 1065/1134 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
RAPH1_chr2_203428682_203540301 | 203441288 | T | TG | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(33): Show |
a0002a0006 | a0002c0005a0002c0006a0002c0012others(8): Show | a0002c0005t0002a0002c0005t0003a0002c0005t0011others(28): Show | a0002c0005t0002g0149 a0002c0005t0002g0174 a0002c0005t0003g0135 others(33): Show |
36 | 288 | 0.1250 | 1 | c.190 others(5): Show |
p.Pro others(5): Show |
RAPH1 | ENSG00000173166.18 | transcript | ENST00000319170.10 | protein_coding | 14/14 | 2092/9699 | 1901/3753 | 634/1250 | chr2 | TogoVar | |||
RBMXL2_chr11_7083998_7096148 | 7089456 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp2 HG01099.hp2 others(39): Show |
a0003a0005a0008 | a0003c0004a0003c0005a0003c0011others(4): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(9): Show | a0003c0004t0001g0000 a0003c0004t0002g0000 a0003c0004t0003g0000 others(9): Show |
42 | 458 | 0.0917 | 1 | c.341 others(4): Show |
p.Gly others(5): Show |
RBMXL2 | ENSG00000170748.7 | transcript | ENST00000306904.7 | protein_coding | 1/1 | 465/2151 | 342/1179 | 114/392 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
RBMX_chrX_136868461_136885725 | 136879426 | A | AT | frameshift_variant others(1): Show |
HIGH | HG01943.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0094 others(4): Show |
7 | 306 | 0.0229 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
RBMX | ENSG00000147274.14 | transcript | ENST00000320676.11 | protein_coding | 2/9 | 156/2012 | 1/1176 | 1/391 | chrX | TogoVar |