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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR5T3_chr11_56247254_56258222 | 56252727 | T | TGCTTCCT others(9): Show |
frameshift_variant | HIGH | HG01496.hp2 HG01891.hp2 HG02630.hp1 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0000 | 4 | 370 | 0.0108 | 16 | c.477 others(23): Show |
p.Ile others(5): Show |
OR5T3 | ENSG00000172489.7 | transcript | ENST00000313033.4 | protein_coding | 1/1 | 493/969 | 493/969 | 165/322 | INFO_REALIGN_3_PRIME | chr11 | 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 | |||
OR6K2_chr1_158694678_158705652 | 158700284 | CAG | C | frameshift_variant | HIGH | HG01891.hp2 HG02615.hp1 HG02615.hp2 others(2): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0000 | 5 | 460 | 0.0109 | -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 | |||
OR6Q1_chr11_58025953_58036906 | 58031636 | AC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00741.hp2 others(25): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 28 | 414 | 0.0676 | -1 | c.685 others(4): Show |
p.Leu others(5): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 1/1 | 685/954 | 685/954 | 229/317 | chr11 | 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 | |||
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(7595): Show |
stop_gained others(1): Show |
HIGH | HG01891.hp1 HG02965.hp1 |
a0005 | a0005c0066a0005c0067 | a0005c0066t0001a0005c0067t0001 | a0005c0066t0001g0000 a0005c0067t0001g0000 |
2 | 44 | 0.0455 | 7602 | c.590 others(7609): Show |
p.Leu others(7615): 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 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0000 a0001c0013t0001g0000 |
130 | 172 | 0.7558 | 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 | ||
OTOF_chr2_26452203_26483124 | 26477421 | C | A | stop_gained | HIGH | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(9): Show |
a0003a0007 | a0003c0006a0007c0020 | a0003c0006t0002a0007c0020t0006 | a0003c0006t0002g0032 a0003c0006t0002g0033 a0003c0006t0002g0203 others(7): Show |
12 | 328 | 0.0366 | 0 | c.160 others(3): Show |
p.Glu others(3): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 3/29 | 468/4838 | 160/3693 | 54/1230 | chr2 | TogoVar | |||
OTOF_chr2_26452203_26563756 | 26477421 | C | A | stop_gained | HIGH | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(9): Show |
a0006a0013 | a0006c0012a0006c0026a0013c0033 | a0006c0012t0001a0006c0026t0003a0013c0033t0001 | a0006c0012t0001g0036 a0006c0012t0001g0170 a0006c0012t0001g0171 others(9): Show |
12 | 282 | 0.0426 | 0 | c.240 others(4): Show |
p.Glu others(4): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 20/47 | 2586/7214 | 2401/5994 | 801/1997 | chr2 | 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 | |||
PANX2_chr22_50165731_50185295 | 50177892 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00741.hp2 HG01243.hp2 others(7): Show |
a0002a0003a0004 | a0002c0005a0002c0012a0003c0006others(1): Show | a0002c0005t0001a0002c0012t0001a0003c0006t0001others(3): Show | a0002c0005t0001g0006 a0002c0005t0001g0009 a0002c0012t0001g0009 others(5): Show |
10 | 438 | 0.0228 | 1 | c.118 others(5): Show |
p.Thr others(5): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 2/3 | 1186/3052 | 1186/2034 | 396/677 | INFO_REALIGN_3_PRIME | chr22 | 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 | |||
PCDHGA8_chr5_141387633_141517975 | 141393331 | GC | G | frameshift_variant | HIGH | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(42): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(4): Show | a0003c0003t0001g0164 a0003c0003t0001g0258 a0003c0003t0001g0272 others(42): Show |
45 | 300 | 0.1500 | -1 | c.522 others(4): Show |
p.Asn others(5): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/4 | 703/4782 | 522/2799 | 174/932 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(165): Show |
a0002 | a0002c0002a0002c0005a0002c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(16): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0004 others(158): Show |
168 | 396 | 0.4242 | 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 | |||
PIEZO1_chr16_88710338_88790220 | 88736406 | T | TACCTGCG others(54): Show |
frameshift_variant others(1): Show |
HIGH | HG01891.hp2 | a0049 | a0049c0094 | a0049c0094t0001 | a0049c0094t0001g0127 | 1 | 279 | 0.0036 | 61 | c.129 others(70): Show |
p.Ser others(5): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 12/51 | 1554/8089 | 1298/7566 | 433/2521 | chr16 | TogoVar | |||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(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 | 71999722 | AC | A | frameshift_variant | HIGH | HG01891.hp1 HG02886.hp2 HG02895.hp1 others(2): Show |
a0014 | a0014c0081a0014c0082a0014c0083others(2): Show | a0014c0081t0001a0014c0082t0001a0014c0083t0001others(2): Show | a0014c0081t0001g0292 a0014c0082t0001g0289 a0014c0083t0001g0288 others(2): Show |
5 | 306 | 0.0163 | -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 | |||
PKD2L1_chr10_100283149_100335228 | 100296259 | G | A | stop_gained | HIGH | HG01109.hp2 HG01884.hp2 HG01891.hp1 others(16): Show |
a0004a0009 | a0004c0005a0004c0015a0004c0022others(1): Show | a0004c0005t0001a0004c0015t0001a0004c0022t0001others(1): Show | a0004c0005t0001g0065 a0004c0005t0001g0195 a0004c0005t0001g0201 others(16): Show |
19 | 304 | 0.0625 | 0 | c.121 others(4): Show |
p.Arg others(4): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 7/16 | 1344/2790 | 1219/2418 | 407/805 | chr10 | 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 | |||
PLCL2_chr3_16879955_17095604 | 17089910 | T | G | stop_lost | HIGH | HG01243.hp1 HG01891.hp1 HG02976.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0018 | a0001c0001t0005a0003c0018t0005 | a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0213 others(1): Show |
4 | 248 | 0.0161 | 0 | c.338 others(4): Show |
p.Ter others(12): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 6/6 | 3467/4161 | 3382/3384 | 1128/1127 | chr3 | 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 | ||||||
PLIN4_chr19_4497192_4523486 | 4510779 | C | CG | frameshift_variant | HIGH | HG01192.hp2 HG01891.hp1 HG02055.hp1 others(7): Show |
a0010a0013a0031others(1): Show | a0010c0024a0010c0031a0013c0046others(4): Show | a0010c0024t0001a0010c0024t0003a0010c0024t0015others(7): Show | a0010c0024t0001g0201 a0010c0024t0003g0202 a0010c0024t0015g0133 others(7): Show |
10 | 410 | 0.0244 | 1 | c.318 others(5): Show |
p.Ala others(6): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 3299/6502 | 3180/4116 | 1060/1371 | chr19 | TogoVar | |||
POLQ_chr3_121426431_121550988 | 121481650 | T | A | stop_gained | HIGH | HG01891.hp1 | a0024 | a0024c0038 | a0024c0038t0001 | a0024c0038t0001g0162 | 1 | 318 | 0.0031 | 0 | c.613 others(4): Show |
p.Arg others(5): Show |
POLQ | ENSG00000051341.15 | transcript | ENST00000264233.6 | protein_coding | 19/30 | 6244/8757 | 6133/7773 | 2045/2590 | chr3 | TogoVar | |||
POLQ_chr3_121426431_121550988 | 121481651 | G | T | stop_gained | HIGH | HG01891.hp1 | a0024 | a0024c0038 | a0024c0038t0001 | a0024c0038t0001g0162 | 1 | 318 | 0.0031 | 0 | c.613 others(4): Show |
p.Tyr others(5): Show |
POLQ | ENSG00000051341.15 | transcript | ENST00000264233.6 | protein_coding | 19/30 | 6243/8757 | 6132/7773 | 2044/2590 | chr3 | TogoVar | |||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(208): Show |
a0002a0004a0005others(3): Show | a0002c0002a0002c0007a0002c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(25): Show | a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(182): Show |
211 | 422 | 0.5000 | -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 | |||
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 | |||
PRAMEF4_chr1_12874212_12891201 | 12875534 | CTAGCTAA others(5989): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01891.hp2 HG02615.hp1 HG02622.hp2 others(2): Show |
a0007 | a0007c0006 | a0007c0006t0004 | a0007c0006t0004g0012 a0007c0006t0004g0065 |
5 | 322 | 0.0155 | -5996 | c.875 others(13): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
PRB3_chr12_11260914_11274707 | 11268099 | GGTACGTT others(53): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01891.hp2 HG02809.hp1 HG03579.hp1 |
a0015 | a0015c0013 | a0015c0013t0002 | a0015c0013t0002g0021 | 3 | 442 | 0.0068 | -60 | c.101 others(70): Show |
p.Gly others(4): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 187/1227 | 101/1056 | 34/351 | chr12 | TogoVar | |||
PRR23D2_chr8_7773591_7786413 | 7779210 | AC | A | frameshift_variant | HIGH | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(19): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0007others(2): Show | a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0011 others(7): Show |
22 | 122 | 0.1803 | -1 | c.790 others(4): Show |
p.Val others(5): Show |
PRR23D2 | ENSG00000255378.1 | transcript | ENST00000528972.1 | protein_coding | 4/4 | 967/1587 | 790/840 | 264/279 | chr8 | TogoVar | |||
PRRT1B_chr9_131540523_131564815 | 131545620 | A | AGGCAGGA others(8): Show |
splice_donor_variant others(1): Show |
HIGH | HG01167.hp1 HG01891.hp2 HG02451.hp2 others(11): Show |
a0005 | a0005c0006a0005c0009 | a0005c0006t0007a0005c0006t0014a0005c0006t0022others(5): Show | a0005c0006t0007g0076 a0005c0006t0007g0077 a0005c0006t0014g0018 others(8): Show |
14 | 456 | 0.0307 | 15 | c.12_ others(22): Show |
PRRT1B | ENSG00000283526.2 | transcript | ENST00000636672.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRSS3_chr9_33790561_33804231 | 33798083 | G | T | splice_donor_variant others(1): Show |
HIGH | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 422 | 0.0024 | 0 | c.454 others(5): Show |
PRSS3 | ENSG00000010438.17 | transcript | ENST00000379405.4 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show |
324 | 426 | 0.7606 | 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 | |||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
375 | 414 | 0.9058 | 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 | |||
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 | |||
PSRC1_chr1_109274556_109288145 | 109282738 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 9 | 436 | 0.0206 | 0 | c.-38 others(5): Show |
PSRC1 | ENSG00000134222.16 | transcript | ENST00000369909.7 | protein_coding | 1/7 | chr1 | 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 | a0001c0001t0002a0002c0002t0005a0002c0002t0016others(1): Show | a0001c0001t0002g0234 a0002c0002t0005g0242 a0002c0002t0005g0243 others(8): Show |
11 | 248 | 0.0444 | 1 | c.198 others(7): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPRQ_chr12_80439235_80685273 | 80484408 | T | TTTTC | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG01074.hp2 HG01192.hp2 others(31): Show |
a0003a0005a0010others(14): Show | a0003c0004a0005c0003a0005c0079others(16): Show | a0003c0004t0005a0005c0003t0001a0005c0003t0002others(20): Show | a0003c0004t0005g0091 a0005c0003t0001g0105 a0005c0003t0001g0107 others(31): Show |
34 | 176 | 0.1932 | 4 | c.118 others(17): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 8/44 | INFO_REALIGN_3_PRIME | chr12 | 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 | |||||||
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 |
a0002 | a0002c0000 | a0002c0000t0004a0002c0000t0006a0002c0000t0008others(3): Show | a0002c0000t0004g0000 a0002c0000t0006g0000 a0002c0000t0008g0000 others(3): Show |
43 | 440 | 0.0977 | -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 | |||
RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(143): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(111): Show |
146 | 375 | 0.3893 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | |||||||
RGPD3_chr2_106398406_106473413 | 106423043 | C | A | stop_gained others(1): Show |
HIGH | HG01891.hp2 | a0025 | a0025c0059 | a0025c0059t0001 | a0025c0059t0001g0141 | 1 | 380 | 0.0026 | 0 | c.492 others(4): Show |
p.Glu others(5): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 20/23 | 5049/7215 | 4924/5277 | 1642/1758 | chr2 | TogoVar | |||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0001a0005a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(100): Show |
104 | 230 | 0.4522 | 3 | c.100 others(16): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
S1PR5_chr19_10507742_10522447 | 10513834 | G | C | stop_gained | HIGH | HG01891.hp1 HG02145.hp2 HG02486.hp1 |
a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0045 a0004c0007t0006g0137 |
3 | 444 | 0.0068 | 0 | c.117 others(4): Show |
p.Ser others(4): Show |
S1PR5 | ENSG00000180739.15 | transcript | ENST00000333430.6 | protein_coding | 2/2 | 1246/2338 | 1178/1197 | 393/398 | chr19 | TogoVar | |||
SCAPER_chr15_76342904_76910340 | 76883817 | T | C | start_lost | HIGH | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show |
a0002a0011 | a0002c0002a0002c0003a0002c0011others(5): Show | a0002c0002t0002a0002c0003t0002a0002c0003t0005others(9): Show | a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show |
117 | 310 | 0.3774 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/32 | 102/5033 | 1/4203 | 1/1400 | chr15 | TogoVar | |||
SCART1_chr10_133448945_133474760 | 133457333 | TC | T | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show |
a0003a0004 | a0003c0003a0003c0007a0003c0008others(16): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(20): Show | a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(61): Show |
93 | 432 | 0.2153 | -1 | c.444 others(4): Show |
p.Glu others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3/12 | 497/4929 | 444/3084 | 148/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |