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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | 5856749 | T | A | stop_lost others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(166): Show |
a0000 | a0000c0002a0000c0003a0000c0006others(2): Show | a0000c0002t0000a0000c0003t0000a0000c0006t0000others(2): Show | a0000c0002t0000g0000a0000c0003t0000g0000a0000c0006t0000g0000others(2): Show | 169 | 436 | 0.3876 | 0 | c.942 others(3): Show |
p.Ter others(11): Show |
OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | 942/942 | 942/942 | 314/313 | 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 | ||
OR5D16_chr11_55833752_55844738 | 55839334 | TATCTC | T | frameshift_variant | HIGH | HG01243.hp2 HG01884.hp1 HG02257.hp1 others(9): Show |
a0003 | a0003c0005 | a0003c0005t0000 | a0003c0005t0000g0000 | 12 | 422 | 0.0284 | -5 | c.585 others(12): Show |
p.Tyr others(5): Show |
OR5D16 | ENSG00000205029.1 | transcript | ENST00000378396.1 | protein_coding | 1/1 | 585/987 | 585/987 | 195/328 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR5K4_chr3_98348854_98359819 | 98354747 | TA | T | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0000a0008c0009t0000 | a0002c0002t0000g0000a0008c0009t0000g0000 | 103 | 452 | 0.2279 | -1 | c.901 others(4): Show |
p.Ile others(5): Show |
OR5K4 | ENSG00000196098.2 | transcript | ENST00000354924.2 | protein_coding | 1/1 | 901/966 | 901/966 | 301/321 | INFO_REALIGN_3_PRIME | chr3 | 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 | ||||||
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(7594): Show |
frameshift_variant others(1): Show |
HIGH | HG02895.hp2 | a0002 | a0002c0030 | a0002c0030t0000 | a0002c0030t0000g0000 | 1 | 364 | 0.0028 | 7601 | c.590 others(7608): 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 | |
P2RX5_chr17_3668227_3701155 | 3690982 | TG | T | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(206): Show | 219 | 362 | 0.6050 | -1 | c.333 others(4): Show |
p.Asn others(5): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3/12 | 483/2060 | 333/1269 | 111/422 | chr17 | 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 | |||||
PALD1_chr10_70473767_70573450 | 70529208 | G | GC | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(47): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0035a0001c0001t0001g0044a0001c0001t0001g0050others(47): Show | 50 | 308 | 0.1623 | 1 | c.186 others(6): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PANK2_chr20_3884387_3934887 | 3889432 | T | A | start_lost | HIGH | HG00408.hp2 HG00735.hp2 HG01070.hp1 others(43): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0004a0001c0003t0010others(11): Show | a0001c0003t0001g0034a0001c0003t0004g0001a0001c0003t0004g0002others(39): Show | 46 | 422 | 0.1090 | 0 | c.2T> others(1): Show |
p.Leu others(2): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/7 | 46/8020 | 2/1383 | 1/460 | chr20 | 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 | ||||||
PEBP4_chr8_22708251_22932914 | 22713394 | GT | G | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(74): Show |
a0003a0004a0006others(5): Show | a0003c0003a0003c0011a0003c0013others(9): Show | a0003c0003t0003a0003c0003t0004a0003c0003t0010others(15): Show | a0003c0003t0003g0034a0003c0003t0003g0036a0003c0003t0003g0040others(74): Show | 77 | 278 | 0.2770 | -1 | c.659 others(4): Show |
p.Asn others(5): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 7/7 | 757/901 | 659/684 | 220/227 | chr8 | TogoVar | ||
PEX11G_chr19_7471875_7494035 | 7477288 | C | CTA | frameshift_variant | HIGH | HG02895.hp1 HG02897.hp1 HG02976.hp1 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0024a0004c0006t0001g0117a0004c0006t0001g0118 | 5 | 416 | 0.0120 | 2 | c.638 others(9): Show |
p.Val others(5): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 5/5 | 664/1078 | 639/726 | 213/241 | chr19 | 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 | ||
PKD1L3_chr16_71924538_72005402 | 71999722 | AC | A | frameshift_variant | HIGH | HG01891.hp1 HG02886.hp2 HG02895.hp1 others(2): Show |
a0014 | a0014c0082a0014c0083a0014c0084others(2): Show | a0014c0082t0001a0014c0083t0001a0014c0084t0001others(2): Show | a0014c0082t0001g0292a0014c0083t0001g0289a0014c0084t0001g0288others(2): Show | 5 | 308 | 0.0162 | -1 | c.256 others(4): Show |
p.Val others(4): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 1/30 | 680/5623 | 256/5199 | 86/1732 | chr16 | 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 | |||||
PLEKHN1_chr1_961482_980865 | 972984 | GTGGGCTG others(25): Show |
G | frameshift_variant others(3): Show |
HIGH | HG02895.hp1 | a0015 | a0015c0041 | a0015c0041t0002 | a0015c0041t0002g0113 | 1 | 422 | 0.0024 | -32 | c.112 others(43): Show |
p.Val others(5): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 11/16 | 1177/3176 | 1127/1836 | 376/611 | chr1 | 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 | |||||
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 | ||
PPIAL4F_chr1_144587893_144598652 | 144593339 | A | T | stop_gained | HIGH | HG02895.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0000 | 1 | 220 | 0.0046 | 0 | c.397 others(3): Show |
p.Lys others(4): Show |
PPIAL4F | ENSG00000279782.3 | transcript | ENST00000581138.4 | protein_coding | 1/1 | 447/760 | 397/495 | 133/164 | chr1 | 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 | ||
PRAMEF4_chr1_12874212_12891201 | 12879725 | C | CG | frameshift_variant | HIGH | HG00741.hp1 HG01070.hp1 HG01070.hp2 others(14): Show |
a0005a0011 | a0005c0005a0011c0012 | a0005c0005t0003a0005c0005t0012a0011c0012t0003 | a0005c0005t0003g0019a0005c0005t0003g0020a0005c0005t0003g0032others(7): Show | 17 | 324 | 0.0525 | 1 | c.125 others(5): Show |
p.Arg others(5): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 4/4 | 1326/1840 | 1255/1437 | 419/478 | chr1 | TogoVar | ||
PRAMEF4_chr1_12874212_12891201 | 12881888 | A | AAACAGAG others(315): Show |
frameshift_variant others(1): Show |
HIGH | HG00280.hp2 HG00735.hp2 HG01081.hp1 others(14): Show |
a0003 | a0003c0004a0003c0027 | a0003c0004t0004a0003c0027t0004 | a0003c0004t0004g0005a0003c0004t0004g0017a0003c0004t0004g0075others(3): Show | 17 | 324 | 0.0525 | 322 | c.840 others(329): Show |
p.Ser others(5): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 3/4 | 911/1840 | 840/1437 | 280/478 | chr1 | TogoVar | ||
PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0007others(9): Show | a0003c0003a0005c0005a0007c0006others(9): Show | a0003c0003t0002a0005c0005t0002a0007c0006t0002others(9): Show | a0003c0003t0002g0004a0003c0003t0002g0023a0003c0003t0002g0033others(14): Show | 80 | 443 | 0.1806 | 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 | ||
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 | ||
PRODH_chr22_18907781_18941293 | 18925164 | C | T | stop_gained | HIGH | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(16): Show |
a0007a0012a0036others(3): Show | a0007c0010a0007c0039a0012c0018others(5): Show | a0007c0010t0001a0007c0039t0001a0012c0018t0001others(5): Show | a0007c0010t0001g0008a0007c0010t0001g0198a0007c0039t0001g0039others(10): Show | 19 | 409 | 0.0465 | 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 | ||
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 | |||||
PRR22_chr19_5777960_5789746 | 5783689 | T | TG | frameshift_variant | HIGH | HG00642.hp2 HG01496.hp1 HG01496.hp2 others(13): Show |
a0004a0005 | a0004c0005a0005c0008a0005c0014 | a0004c0005t0001a0005c0008t0001a0005c0014t0001 | a0004c0005t0001g0008a0004c0005t0001g0030a0005c0008t0001g0016others(2): Show | 16 | 382 | 0.0419 | 1 | c.557 others(4): Show |
p.Pro others(5): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 3/3 | 643/1373 | 557/1269 | 186/422 | 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 | ||
PTPN4_chr2_119754922_119989899 | 119956825 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01243.hp2 HG01891.hp2 HG02109.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004a0002c0002t0016others(1): Show | a0001c0001t0002g0234a0002c0002t0004g0241a0002c0002t0004g0243others(8): Show | 11 | 252 | 0.0437 | 1 | c.198 others(7): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PTTG1IP2_chr7_90464639_90518397 | 90487326 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0235others(58): Show | 72 | 384 | 0.1875 | 0 | c.193 others(5): Show |
PTTG1IP2 | ENSG00000251154.2 | transcript | ENST00000509356.2 | protein_coding | 2/6 | chr7 | 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 | a0001c0001t0002g0010a0001c0001t0002g0100a0001c0001t0002g0114others(188): Show | 253 | 390 | 0.6487 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | ||||||
RAMACL_chr6_166578009_166591678 | 166585488 | TCAAACAA others(1183): Show |
T | frameshift_variant others(1): Show |
HIGH | HG01070.hp1 HG01071.hp1 HG01167.hp1 others(40): Show |
a0000 | a0000c0000 | a0000c0000t0006a0000c0000t0009a0000c0000t0015others(3): Show | a0000c0000t0006g0000a0000c0000t0009g0000a0000c0000t0015g0000others(3): Show | 43 | 442 | 0.0973 | -1190 | c.-20 others(9): Show |
p.Met others(3): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1/1 | 1190/3670 | 1/357 | 1/118 | chr6 | TogoVar | ||
RBPJL_chr20_45301840_45322824 | 45313410 | C | CCCCTCAC others(17): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01358.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0071 | 4 | 446 | 0.0090 | 24 | c.620 others(36): Show |
RBPJL | ENSG00000124232.11 | transcript | ENST00000343694.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | 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 | ||||||
RETNLB_chr3_108750638_108762410 | 108757146 | G | GGGGGATT others(1): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0007a0004c0004t0004g0021 | 19 | 452 | 0.0420 | 8 | c.32_ others(13): Show |
p.Leu others(4): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 1/3 | 264/701 | 39/336 | 13/111 | chr3 | TogoVar | ||
RGPD4_chr2_107821892_107897544 | 107838282 | C | T | stop_gained | HIGH | HG01081.hp2 HG01167.hp2 HG02257.hp2 others(17): Show |
a0006a0022 | a0006c0007a0006c0008a0006c0076others(3): Show | a0006c0007t0005a0006c0007t0018a0006c0008t0005others(5): Show | a0006c0007t0005g0193a0006c0007t0005g0194a0006c0007t0005g0195others(17): Show | 20 | 374 | 0.0535 | 0 | c.166 others(3): Show |
p.Arg others(3): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 3/23 | 288/7212 | 166/5277 | 56/1758 | chr2 | 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 | |
RLN1_chr9_5329930_5344876 | 5339671 | T | A | stop_gained | HIGH | HG01099.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
a0003a0005a0007 | a0003c0005a0005c0007a0007c0009 | a0003c0005t0001a0003c0005t0006a0005c0007t0001others(2): Show | a0003c0005t0001g0009a0003c0005t0006g0016a0005c0007t0001g0053others(2): Show | 9 | 448 | 0.0201 | 0 | c.76A others(2): Show |
p.Lys others(3): Show |
RLN1 | ENSG00000107018.8 | transcript | ENST00000223862.2 | protein_coding | 1/2 | 206/1009 | 76/558 | 26/185 | chr9 | TogoVar | ||
RNF224_chr9_137222502_137234640 | 137228812 | CCT | C | frameshift_variant | HIGH | HG02109.hp2 HG02257.hp1 HG02572.hp2 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0001a0003c0003t0002g0001 | 12 | 394 | 0.0305 | -2 | c.198 others(9): Show |
p.Cys others(4): Show |
RNF224 | ENSG00000233198.4 | transcript | ENST00000445101.4 | protein_coding | 3/3 | 742/1569 | 198/471 | 66/156 | chr9 | TogoVar | ||
RNF32_chr7_156635774_156682130 | 156675865 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp2 HG00609.hp2 HG01168.hp2 others(52): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0001a0003c0003t0002a0003c0003t0004others(3): Show | a0002c0002t0001g0077a0003c0003t0002g0053a0003c0003t0002g0190others(41): Show | 55 | 448 | 0.1228 | 0 | c.852 others(5): Show |
RNF32 | ENSG00000105982.17 | transcript | ENST00000317955.10 | protein_coding | 8/8 | chr7 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112130967 | T | TTGTATTT others(309): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01168.hp1 HG02055.hp1 HG02257.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0003others(2): Show | a0001c0002t0002g0027a0001c0002t0002g0029a0001c0002t0002g0032others(6): Show | 9 | 134 | 0.0672 | 316 | c.-56 others(329): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(97): Show | 102 | 386 | 0.2643 | 2 | c.100 others(15): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |