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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR2D2_chr11_6886574_6897500 | 6891690 | ATT | A | frameshift_variant | HIGH | HG01109.hp1 HG02109.hp2 HG02257.hp2 others(12): Show |
a0005a0011 | a0005c0006a0011c0016 | a0005c0006t0000a0011c0016t0000 | a0005c0006t0000g0000a0011c0016t0000g0000 | 15 | 482 | 0.0311 | -2 | c.809 others(9): Show |
p.Lys others(5): Show |
OR2D2 | ENSG00000166368.3 | transcript | ENST00000299459.3 | protein_coding | 1/1 | 810/927 | 809/927 | 270/308 | chr11 | TogoVar | ||
OR2D2_chr11_6886574_6897500 | 6892309 | G | T | stop_gained | HIGH | HG02486.hp1 HG03453.hp2 HG03486.hp1 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0000 | a0006c0007t0000g0000 | 4 | 482 | 0.0083 | 0 | c.192 others(3): Show |
p.Cys others(3): Show |
OR2D2 | ENSG00000166368.3 | transcript | ENST00000299459.3 | protein_coding | 1/1 | 192/927 | 192/927 | 64/308 | chr11 | TogoVar | ||
OR2D3_chr11_6916002_6926994 | 6921357 | TC | T | frameshift_variant | HIGH | HG00733.hp2 HG01256.hp1 HG01258.hp2 others(12): Show |
a0005 | a0005c0005a0005c0013 | a0005c0005t0000a0005c0013t0000 | a0005c0005t0000g0000a0005c0013t0000g0000 | 15 | 466 | 0.0322 | -1 | c.357 others(4): Show |
p.Leu others(5): Show |
OR2D3 | ENSG00000178358.5 | transcript | ENST00000317834.5 | protein_coding | 1/1 | 357/993 | 357/993 | 119/330 | chr11 | TogoVar | ||
OR2T12_chr1_248285139_248308424 | 248295194 | G | A | stop_gained | HIGH | HG03486.hp1 HG03516.hp1 HG06807.hp2 others(1): Show |
a0012 | a0012c0013 | a0012c0013t0012 | a0012c0013t0012g0029a0012c0013t0012g0030 | 4 | 406 | 0.0099 | 0 | c.385 others(3): Show |
p.Arg others(4): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3/3 | 653/5708 | 385/963 | 129/320 | chr1 | TogoVar | ||
OR2T27_chr1_248644838_248660528 | 248650802 | AAG | A | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG01258.hp2 others(16): Show |
a0004a0019a0026others(1): Show | a0004c0008a0004c0032a0004c0078others(5): Show | a0004c0008t0002a0004c0008t0009a0004c0032t0002others(7): Show | a0004c0008t0002g0007a0004c0008t0002g0027a0004c0008t0002g0047others(9): Show | 19 | 384 | 0.0495 | -2 | c.81_ others(7): Show |
p.Phe others(4): Show |
OR2T27 | ENSG00000187701.5 | transcript | ENST00000460972.4 | protein_coding | 2/2 | 171/1136 | 81/954 | 27/317 | chr1 | TogoVar | ||
OR2T29_chr1_248551912_248567772 | 248559422 | G | A | stop_gained | HIGH | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(93): Show |
a0002a0021 | a0002c0002a0002c0009a0002c0013others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(13): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0008others(21): Show | 96 | 313 | 0.3067 | 0 | c.70C others(2): Show |
p.Gln others(3): Show |
OR2T29 | ENSG00000182783.6 | transcript | ENST00000641069.1 | protein_coding | 2/2 | 127/2637 | 70/948 | 24/315 | 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 | ||
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 | |
OR4P4_chr11_55630113_55645309 | 55638546 | C | G | stop_gained | HIGH | HG00099.hp1 HG00597.hp1 HG00597.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0008g0001 | 61 | 224 | 0.2723 | 0 | c.189 others(3): Show |
p.Tyr others(3): Show |
OR4P4 | ENSG00000181927.4 | transcript | ENST00000641760.1 | protein_coding | 2/2 | 323/2086 | 189/939 | 63/312 | chr11 | TogoVar | ||
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(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 | |||||
OR51I2_chr11_5444323_5461518 | 5454410 | CA | C | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp2 HG01884.hp2 others(22): Show |
a0000 | a0000c0006a0000c0011 | a0000c0006t0005a0000c0006t0017a0000c0006t0023others(2): Show | a0000c0006t0005g0011a0000c0006t0005g0017a0000c0006t0005g0030others(5): Show | 25 | 482 | 0.0519 | -1 | c.923 others(4): Show |
p.His others(5): Show |
OR51I2 | ENSG00000187918.6 | transcript | ENST00000641930.1 | protein_coding | 2/2 | 1195/3302 | 923/939 | 308/312 | chr11 | TogoVar | ||
OR52B2_chr11_6164355_6175326 | 6168457 | AAGTACTG others(3306): Show |
A | transcript_ablation | HIGH | HG03486.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 414 | 0.0024 | -3313 | c.-14 others(10): Show |
p.0? | OR52B2 | ENSG00000255307.2 | transcript | ENST00000530810.2 | protein_coding | 1/1 | 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 | |||||
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 | ||
OR5BS1P_chr12_48554882_48567956 | 48562793 | G | T | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02886.hp2 HG03195.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0000a0002c0002t0000a0005c0005t0000 | a0001c0001t0000g0025a0002c0002t0000g0014a0005c0005t0000g0014 | 4 | 458 | 0.0087 | 0 | c.774 others(5): Show |
OR5BS1P | ENSG00000198678.5 | transcript | ENST00000328207.6 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
OR5H15_chr3_98161696_98174774 | 98169478 | T | TG | frameshift_variant | HIGH | HG01891.hp2 HG02258.hp2 HG02622.hp1 others(6): Show |
a0007a0012 | a0007c0008a0012c0023 | a0007c0008t0003a0007c0008t0004a0012c0023t0003 | a0007c0008t0003g0008a0007c0008t0003g0013a0007c0008t0004g0008others(1): Show | 9 | 444 | 0.0203 | 1 | c.782 others(4): Show |
p.Ala others(5): Show |
OR5H15 | ENSG00000233412.6 | transcript | ENST00000641450.1 | protein_coding | 2/2 | 937/1229 | 783/942 | 261/313 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OR5K2_chr3_98492681_98503631 | 98498334 | T | A | stop_gained | HIGH | HG00099.hp1 HG00642.hp2 HG00673.hp1 others(46): Show |
a0002 | a0002c0002a0002c0003a0002c0011 | a0002c0002t0000a0002c0003t0000a0002c0011t0000 | a0002c0002t0000g0000a0002c0003t0000g0000a0002c0011t0000g0000 | 49 | 486 | 0.1008 | 0 | c.654 others(3): Show |
p.Tyr others(4): Show |
OR5K2 | ENSG00000231861.3 | transcript | ENST00000427338.3 | protein_coding | 1/1 | 654/951 | 654/951 | 218/316 | chr3 | TogoVar | ||
OR5P3_chr11_7819818_7835840 | 7825116 | TTCAACAT others(908): Show |
T | frameshift_variant others(2): Show |
HIGH | HG02572.hp2 HG02630.hp2 HG02647.hp2 others(9): Show |
a0000 | a0000c0005 | a0000c0005t0005 | a0000c0005t0005g0007a0000c0005t0005g0029a0000c0005t0005g0030 | 12 | 422 | 0.0284 | -915 | c.-21 others(10): Show |
p.Met others(3): Show |
OR5P3 | ENSG00000182334.3 | transcript | ENST00000641167.1 | protein_coding | 2/2 | 894/1193 | 1/936 | 1/311 | 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 | ||
OR6C6_chr12_55288988_55301569 | 55294634 | A | T | stop_gained | HIGH | HG02109.hp2 HG02280.hp2 HG03486.hp1 others(1): Show |
a0006 | a0006c0007a0006c0008 | a0006c0007t0001a0006c0008t0001 | a0006c0007t0001g0010a0006c0008t0001g0029 | 4 | 482 | 0.0083 | 0 | c.599 others(3): Show |
p.Leu others(4): Show |
OR6C6 | ENSG00000188324.4 | transcript | ENST00000358433.3 | protein_coding | 2/2 | 875/1521 | 599/945 | 200/314 | chr12 | TogoVar | ||
OR6K2_chr1_158694678_158705652 | 158700284 | CAG | C | frameshift_variant | HIGH | HG01891.hp2 HG02615.hp1 HG02615.hp2 others(2): Show |
a0006 | a0006c0008 | a0006c0008t0000 | a0006c0008t0000g0000 | 5 | 462 | 0.0108 | -2 | c.367 others(9): Show |
p.Leu others(5): Show |
OR6K2 | ENSG00000196171.3 | transcript | ENST00000359610.3 | protein_coding | 1/1 | 368/975 | 367/975 | 123/324 | chr1 | TogoVar | ||
OR6Y1_chr1_158539550_158559405 | 158546972 | CATGATTG others(4974): Show |
C | start_lost others(2): Show |
HIGH | HG02451.hp1 HG03041.hp2 HG03098.hp1 others(3): Show |
a0000 | a0000c0000 | a0000c0000t0016a0000c0000t0048 | a0000c0000t0016g0017a0000c0000t0016g0097a0000c0000t0048g0098 | 6 | 430 | 0.0140 | -4981 | c.-14 others(15): Show |
p.Met others(11): Show |
OR6Y1 | ENSG00000197532.3 | transcript | ENST00000641622.1 | protein_coding | 2/2 | 2705/5128 | 1/978 | 1/325 | chr1 | 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 | 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 | HG02615.hp1 HG02622.hp1 HG02717.hp2 others(2): Show |
a0002 | a0002c0008 | a0002c0008t0000 | a0002c0008t0000g0000 | 5 | 364 | 0.0137 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7598): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0000a0001c0013t0000 | a0001c0001t0000g0000a0001c0013t0000g0000 | 130 | 364 | 0.3571 | 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 | |
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 | ||
PABPC1L2B_chrX_72997939_73011106 | 73003745 | AG | A | frameshift_variant | HIGH | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0000 | 1 | 294 | 0.0034 | -1 | c.106 others(4): Show |
p.Asp others(4): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 1/1 | 810/3168 | 106/603 | 36/200 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PABPC1L2B_chrX_72997939_73011106 | 73004051 | CA | C | frameshift_variant | HIGH | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0000 | 1 | 294 | 0.0034 | -1 | c.413 others(4): Show |
p.Lys others(5): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 1/1 | 1117/3168 | 413/603 | 138/200 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PABPC1L2B_chrX_72997939_73011106 | 73004229 | A | AC | frameshift_variant | HIGH | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0000 | 1 | 294 | 0.0034 | 1 | c.587 others(8): Show |
p.Glu others(5): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 1/1 | 1292/3168 | 588/603 | 196/200 | chrX | TogoVar | ||
PABPC1L2B_chrX_72997939_73011106 | 73004236 | CT | C | frameshift_variant | HIGH | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0000 | 1 | 294 | 0.0034 | -1 | c.596 others(4): Show |
p.Leu others(5): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 1/1 | 1300/3168 | 596/603 | 199/200 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
PADI6_chr1_17367196_17406699 | 17398662 | C | CCCCACCC others(1): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0003others(9): Show | a0001c0001t0002g0072a0001c0001t0002g0254a0001c0001t0004g0079others(37): Show | 52 | 412 | 0.1262 | 8 | c.169 others(22): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAGE1_chrX_49682447_49700984 | 49687552 | A | AT | frameshift_variant | HIGH | HG03486.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0052 | 1 | 322 | 0.0031 | 1 | c.429 others(4): Show |
p.Ser others(5): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 6/6 | 553/659 | 429/441 | 143/146 | chrX | TogoVar | ||
PAGE1_chrX_49682447_49700984 | 49689491 | A | AC | frameshift_variant | HIGH | HG03486.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0052 | 1 | 322 | 0.0031 | 1 | c.344 others(4): Show |
p.Cys others(5): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 5/6 | 468/659 | 344/441 | 115/146 | chrX | 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 | ||||||
PCDH15_chr10_53816099_54806231 | 53822028 | A | ACATGTTA others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG03486.hp1 | a0031 | a0031c0032 | a0031c0032t0001 | a0031c0032t0001g0072 | 1 | 94 | 0.0106 | 25 | c.567 others(34): Show |
p.Tyr others(6): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 33/33 | 6032/6962 | 5697/5868 | 1899/1955 | chr10 | TogoVar | ||
PDLIM2_chr8_22575475_22599298 | 22593765 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(39): Show |
a0002a0005a0008others(1): Show | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(6): Show | a0002c0003t0001g0005a0002c0003t0001g0041a0002c0003t0001g0054others(37): Show | 42 | 380 | 0.1105 | 1 | c.916 others(4): Show |
p.Arg others(5): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 9/9 | 1047/1577 | 917/1059 | 306/352 | INFO_REALIGN_3_PRIME | chr8 | 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 | ||
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 | ||
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 | ||
PLCD4_chr2_218602899_218642175 | 218618746 | C | T | stop_gained | HIGH | HG03486.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0225 | 1 | 298 | 0.0034 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 4/16 | 554/3092 | 349/2289 | 117/762 | 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 | |||||
PLEKHB1_chr11_73641581_73667819 | 73660839 | A | AGGTAAGT others(3): Show |
frameshift_variant | HIGH | HG02622.hp2 HG02818.hp1 HG03486.hp1 |
a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0036a0000c0002t0001g0055 | 3 | 416 | 0.0072 | 10 | c.582 others(17): Show |
p.Pro others(5): Show |
PLEKHB1 | ENSG00000021300.14 | transcript | ENST00000354190.10 | protein_coding | 7/8 | 611/1977 | 583/732 | 195/243 | chr11 | TogoVar |