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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PER3_chr1_7779291_7850177 | 7829912 | GAGAATCC others(47): Show |
G | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(296): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(27): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(267): Show |
299 | 408 | 0.7328 | -54 | c.304 others(63): Show |
p.Ala others(15): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 19/22 | 3356/6365 | 3046/3633 | 1016/1210 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PGAP2_chr11_3803560_3831371 | 3817473 | TTCTTCTG others(82): Show |
T | splice_donor_variant others(3): Show |
HIGH | HG02155.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0088 | 1 | 416 | 0.0024 | -89 | c.289 others(99): Show |
p.Phe others(12): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 3/7 | 391/1963 | 289/948 | 97/315 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
PHETA1_chr12_111355679_111374095 | 111363022 | TGCCACCC others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(139): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(3): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0011others(8): Show | a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0011 others(26): Show |
142 | 378 | 0.3757 | -9 | c.397 others(16): Show |
p.Gly others(13): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 3/3 | 770/3114 | 397/750 | 133/249 | chr12 | TogoVar | |||
PHF11_chr13_49490953_49533976 | 49496005 | GCCCAGGC others(14): Show |
G | conservative_inframe_deletion | MODERATE | HG02109.hp2 HG02145.hp1 HG03041.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0017 a0002c0003t0001g0041 a0002c0003t0001g0063 others(1): Show |
5 | 412 | 0.0121 | -21 | c.7_2 others(25): Show |
p.Gln others(9): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 1/10 | 56/1356 | 7/996 | 3/331 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
PI4K2B_chr4_25229033_25284204 | 25263770 | TGAA | T | conservative_inframe_deletion | MODERATE | HG00423.hp2 NA18939.hp1 NA18947.hp2 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0032 a0004c0006t0001g0102 a0004c0006t0001g0103 others(1): Show |
5 | 434 | 0.0115 | -3 | c.100 others(12): Show |
p.Glu others(6): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 7/10 | 1134/3594 | 1003/1446 | 335/481 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
PIEZO1_chr16_88710338_88790220 | 88721199 | CCTT | C | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(43): Show |
a0004a0005a0011others(15): Show | a0004c0004a0004c0020a0004c0053others(28): Show | a0004c0004t0001a0004c0020t0001a0004c0020t0003others(29): Show | a0004c0004t0001g0038 a0004c0004t0001g0049 a0004c0004t0001g0061 others(43): Show |
46 | 280 | 0.1643 | -3 | c.563 others(12): Show |
p.Lys others(7): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 39/51 | 5890/8089 | 5632/7566 | 1878/2521 | chr16 | TogoVar | |||
PIEZO1_chr16_88710338_88790220 | 88733987 | CCTG | C | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG00323.hp1 HG01081.hp2 others(9): Show |
a0007a0008a0061 | a0007c0008a0007c0079a0008c0013others(3): Show | a0007c0008t0004a0007c0079t0004a0008c0013t0005others(3): Show | a0007c0008t0004g0162 a0007c0008t0004g0163 a0007c0008t0004g0165 others(9): Show |
12 | 278 | 0.0432 | -3 | c.224 others(12): Show |
p.Gln others(6): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 17/51 | 2503/8089 | 2245/7566 | 749/2521 | chr16 | TogoVar | |||
PIK3C2G_chr12_18256518_18653416 | 18282464 | GCCC | G | conservative_inframe_deletion | MODERATE | HG00544.hp2 HG00639.hp1 HG00735.hp2 others(44): Show |
a0002a0014 | a0002c0002a0002c0005a0002c0012others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(18): Show | a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0100 others(44): Show |
47 | 174 | 0.2701 | -3 | c.385 others(10): Show |
p.Pro others(6): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 2/33 | 523/4987 | 385/4461 | 129/1486 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
PITPNM2_chr12_122978480_123156090 | 122995576 | TGCCACCA others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG01884.hp2 HG02486.hp2 HG02559.hp1 others(15): Show |
a0002 | a0002c0003a0002c0008a0002c0022 | a0002c0003t0004a0002c0003t0009a0002c0008t0004others(1): Show | a0002c0003t0004g0001 a0002c0003t0004g0002 a0002c0003t0004g0003 others(12): Show |
18 | 228 | 0.0789 | -9 | c.185 others(18): Show |
p.Gly others(13): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 14/26 | 2403/7134 | 1858/4050 | 620/1349 | chr12 | TogoVar | |||
PKD1L3_chr16_71924538_72005402 | 71951666 | AACTCCAT others(11): Show |
A | conservative_inframe_deletion | MODERATE | HG02895.hp1 | a0014 | a0014c0085 | a0014c0085t0001 | a0014c0085t0001g0291 | 1 | 306 | 0.0033 | -18 | c.307 others(27): Show |
p.Glu others(15): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 19/30 | 3511/5623 | 3070/5199 | 1024/1732 | chr16 | TogoVar | |||
PKNOX2_chr11_125159751_125438389 | 125431296 | AGAG | A | conservative_inframe_deletion | MODERATE | HG01109.hp2 HG01123.hp2 HG01261.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 a0002c0002t0002g0038 a0002c0002t0002g0053 others(5): Show |
8 | 220 | 0.0364 | -3 | c.133 others(12): Show |
p.Glu others(6): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 13/13 | 1565/3642 | 1339/1419 | 447/472 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
PKP3_chr11_389209_409908 | 394289 | CGCCATGC others(38): Show |
C | start_lost others(1): Show |
HIGH | HG02647.hp2 | a0013 | a0013c0037 | a0013c0037t0005 | a0013c0037t0005g0087 | 1 | 214 | 0.0047 | -45 | c.1_4 others(49): Show |
p.Met others(10): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 1/13 | 85/2817 | 1/2394 | 1/797 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
PLIN4_chr19_4497192_4523486 | 4511316 | CCTGGACG others(191): Show |
C | conservative_inframe_deletion | MODERATE | NA18963.hp1 NA18993.hp1 NA18997.hp1 others(2): Show |
a0012a0043 | a0012c0015a0043c0062 | a0012c0015t0002a0043c0062t0002 | a0012c0015t0002g0159 a0012c0015t0002g0160 a0012c0015t0002g0161 others(2): Show |
5 | 410 | 0.0122 | -198 | c.244 others(9): Show |
p.Met others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2762/6502 | 2446/4116 | 816/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4511322 | CGGCCCCT others(389): Show |
C | conservative_inframe_deletion | MODERATE | HG03130.hp1 | a0019 | a0019c0081 | a0019c0081t0004 | a0019c0081t0004g0272 | 1 | 410 | 0.0024 | -396 | c.224 others(9): Show |
p.Ile others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2756/6502 | 2242/4116 | 748/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4511610 | CGGTCTGG others(191): Show |
C | conservative_inframe_deletion | MODERATE | HG01257.hp2 HG01258.hp2 HG01261.hp2 others(1): Show |
a0003 | a0003c0008a0003c0023 | a0003c0008t0001a0003c0023t0001 | a0003c0008t0001g0198 a0003c0023t0001g0020 |
4 | 404 | 0.0099 | -198 | c.215 others(9): Show |
p.Ser others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2468/6502 | 2152/4116 | 718/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4511635 | CTTCACAG others(785): Show |
G | conservative_inframe_deletion | MODERATE | NA19057.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0131 | 1 | 76 | 0.0132 | -792 | c.153 others(9): Show |
p.Val others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2444/6502 | 1534/4116 | 512/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4511910 | TCTGGGCA others(389): Show |
T | conservative_inframe_deletion | MODERATE | HG03130.hp1 HG04199.hp2 |
a0019 | a0019c0077a0019c0081 | a0019c0077t0001a0019c0081t0004 | a0019c0077t0001g0141 a0019c0081t0004g0272 |
2 | 409 | 0.0049 | -396 | c.165 others(9): Show |
p.Gly others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 2168/6502 | 1654/4116 | 552/1371 | chr19 | TogoVar | |||
PLIN4_chr19_4497192_4523486 | 4512624 | AATTCATG others(389): Show |
A | conservative_inframe_deletion | MODERATE | HG00639.hp2 HG00735.hp2 HG01109.hp1 others(39): Show |
a0001a0004a0005others(9): Show | a0001c0003a0001c0004a0001c0006others(20): Show | a0001c0003t0004a0001c0004t0011a0001c0006t0001others(26): Show | a0001c0003t0004g0108 a0001c0004t0011g0107 a0001c0006t0001g0099 others(31): Show |
42 | 409 | 0.1027 | -396 | c.940 others(8): Show |
p.Val others(13): Show |
PLIN4 | ENSG00000167676.5 | transcript | ENST00000301286.5 | protein_coding | 5/8 | 1454/6502 | 940/4116 | 314/1371 | chr19 | TogoVar | |||
PLK5_chr19_1519077_1541046 | 1535194 | GCCC | G | conservative_inframe_deletion | MODERATE | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(226): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0007a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(166): Show |
229 | 428 | 0.5350 | -3 | c.958 others(10): Show |
p.Pro others(6): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 14/14 | 1671/2520 | 958/1011 | 320/336 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
PNPLA1_chr6_36265060_36318955 | 36302063 | GCCTGTGT others(5): Show |
G | conservative_inframe_deletion | MODERATE | NA18990.hp1 | a0027 | a0027c0026 | a0027c0026t0002 | a0027c0026t0002g0176 | 1 | 384 | 0.0026 | -12 | c.985 others(19): Show |
p.Ser others(13): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 6/9 | 1385/4188 | 985/1719 | 329/572 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
POU4F1_chr13_78593362_78608552 | 78602188 | GGCCGCCG others(8): Show |
G | conservative_inframe_deletion | MODERATE | HG04184.hp2 NA18983.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0005 | a0001c0001t0001g0001 a0001c0005t0005g0027 |
2 | 3 | 0.6667 | -15 | c.472 others(22): Show |
p.Gly others(13): Show |
POU4F1 | ENSG00000152192.8 | transcript | ENST00000377208.7 | protein_coding | 2/2 | 712/4539 | 472/1260 | 158/419 | chr13 | TogoVar | |||
PPP1R12B_chr1_202343699_202597702 | 202348989 | GACCAGGC others(8): Show |
G | conservative_inframe_deletion | MODERATE | HG01123.hp2 | a0003 | a0003c0009 | a0003c0009t0009 | a0003c0009t0009g0050 | 1 | 252 | 0.0040 | -15 | c.139 others(22): Show |
p.Thr others(11): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 1/24 | 292/15244 | 139/2949 | 47/982 | chr1 | TogoVar | |||
PPP1R3F_chrX_49264793_49293090 | 49286124 | GCTCGGTG others(8): Show |
G | conservative_inframe_deletion | MODERATE | NA19075.hp1 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0038 | 1 | 286 | 0.0035 | -15 | c.143 others(24): Show |
p.Leu others(13): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 4/4 | 1512/3477 | 1435/2400 | 479/799 | chrX | TogoVar | |||
PRAG1_chr8_8312736_8391439 | 8377352 | CGCCGCT | C | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(88): Show |
a0002a0005a0027others(2): Show | a0002c0002a0002c0010a0002c0058others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0010t0001others(10): Show | a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 others(83): Show |
91 | 334 | 0.2725 | -6 | c.105 others(15): Show |
p.Ser others(13): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 3/6 | 1262/4845 | 1051/4221 | 351/1406 | chr8 | TogoVar | |||
PRAM1_chr19_8485056_8507640 | 8490988 | TCTC | T | conservative_inframe_deletion | MODERATE | HG02055.hp1 HG02717.hp2 HG02809.hp2 others(5): Show |
a0022a0026a0035others(3): Show | a0022c0020a0026c0019a0035c0038others(3): Show | a0022c0020t0001a0026c0019t0001a0035c0038t0001others(3): Show | a0022c0020t0001g0118 a0022c0020t0001g0119 a0026c0019t0001g0045 others(4): Show |
8 | 420 | 0.0190 | -3 | c.163 others(12): Show |
p.Glu others(6): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 6/10 | 1690/2195 | 1639/2013 | 547/670 | chr19 | TogoVar | |||
PRB2_chr12_11386540_11400567 | 11393003 | CACTTCGG others(179): Show |
C | conservative_inframe_deletion | MODERATE | HG01884.hp2 HG03139.hp2 NA21309.hp2 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0017 | 3 | 408 | 0.0074 | -186 | c.889 others(8): Show |
p.Ser others(13): Show |
PRB2 | ENSG00000121335.12 | transcript | ENST00000389362.6 | protein_coding | 3/4 | 1112/1431 | 889/1251 | 297/416 | chr12 | TogoVar | |||
PRB2_chr12_11386540_11400567 | 11393678 | GTGGAGGA others(239): Show |
G | conservative_inframe_deletion | MODERATE | HG00735.hp1 HG01168.hp1 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0044 a0008c0009t0001g0045 |
2 | 408 | 0.0049 | -246 | c.154 others(7): Show |
p.Ser others(12): Show |
PRB2 | ENSG00000121335.12 | transcript | ENST00000389362.6 | protein_coding | 3/4 | 437/1431 | 154/1251 | 52/416 | chr12 | TogoVar | |||
PRDM9_chr5_23502609_23533093 | 23526744 | CGTCTGCA others(413): Show |
C | conservative_inframe_deletion | MODERATE | HG03471.hp2 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0029 | 1 | 422 | 0.0024 | -420 | c.169 others(9): Show |
p.Lys others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 1878/3193 | 1690/2685 | 564/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRDM9_chr5_23502609_23533093 | 23526806 | TACACACA others(245): Show |
T | conservative_inframe_deletion | MODERATE | NA18947.hp1 NA18961.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 418 | 0.0096 | -252 | c.185 others(9): Show |
p.Arg others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2043/3193 | 1855/2685 | 619/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRDM9_chr5_23502609_23533093 | 23526890 | CACACACA others(77): Show |
C | conservative_inframe_deletion | MODERATE | HG01993.hp2 HG02809.hp1 |
a0001a0004 | a0001c0001a0004c0017 | a0001c0001t0002a0004c0017t0001 | a0001c0001t0002g0001 a0004c0017t0001g0045 |
2 | 416 | 0.0048 | -84 | c.193 others(93): Show |
p.Arg others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2127/3193 | 1939/2685 | 647/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRDM9_chr5_23502609_23533093 | 23527058 | GACACACA others(161): Show |
G | conservative_inframe_deletion | MODERATE | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 410 | 0.0024 | -168 | c.202 others(9): Show |
p.Trp others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2211/3193 | 2023/2685 | 675/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRDM9_chr5_23502609_23533093 | 23527214 | CTCACCAG others(245): Show |
C | conservative_inframe_deletion | MODERATE | HG03195.hp2 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0066 | 1 | 421 | 0.0024 | -252 | c.227 others(9): Show |
p.Asp others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2463/3193 | 2275/2685 | 759/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRDM9_chr5_23502609_23533093 | 23527467 | TCACCAGA others(77): Show |
T | conservative_inframe_deletion | MODERATE | HG06807.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0079 | 1 | 418 | 0.0024 | -84 | c.244 others(93): Show |
p.Ser others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2628/3193 | 2440/2685 | 814/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRDM9_chr5_23502609_23533093 | 23527584 | TGTCTGCA others(77): Show |
T | conservative_inframe_deletion | MODERATE | HG02572.hp2 NA18985.hp1 NA19004.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0055 a0004c0006t0001g0059 a0004c0006t0001g0155 |
3 | 422 | 0.0071 | -84 | c.252 others(93): Show |
p.Arg others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2712/3193 | 2524/2685 | 842/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRG4_chr1_186291279_186319567 | 186307328 | CCTGCACC others(14): Show |
C | conservative_inframe_deletion | MODERATE | NA18957.hp2 | a0025 | a0025c0024 | a0025c0024t0003 | a0025c0024t0003g0133 | 1 | 426 | 0.0023 | -21 | c.162 others(30): Show |
p.Thr others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 1669/5049 | 1624/4215 | 542/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PRG4_chr1_186291279_186319567 | 186307349 | TCTGCACC others(41): Show |
T | conservative_inframe_deletion | MODERATE | HG03225.hp2 NA19004.hp2 |
a0001 | a0001c0001a0001c0032 | a0001c0001t0001a0001c0032t0001 | a0001c0001t0001g0036 a0001c0032t0001g0091 |
2 | 426 | 0.0047 | -48 | c.165 others(57): Show |
p.Ser others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 1702/5049 | 1657/4215 | 553/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PRG4_chr1_186291279_186319567 | 186307744 | CACCCCTA others(17): Show |
C | conservative_inframe_deletion | MODERATE | HG01175.hp2 HG02451.hp1 HG03486.hp1 |
a0010 | a0010c0014a0010c0026 | a0010c0014t0003a0010c0026t0001 | a0010c0014t0003g0159 a0010c0014t0003g0160 a0010c0026t0001g0015 |
3 | 426 | 0.0070 | -24 | c.208 others(33): Show |
p.Pro others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 2131/5049 | 2086/4215 | 696/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PRG4_chr1_186291279_186319567 | 186307781 | CCTGCTCC others(200): Show |
C | conservative_inframe_deletion | MODERATE | HG00621.hp1 | a0018 | a0018c0030 | a0018c0030t0001 | a0018c0030t0001g0012 | 1 | 425 | 0.0024 | -207 | c.211 others(9): Show |
p.Thr others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 2155/5049 | 2110/4215 | 704/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PRIMPOL_chr4_184644738_184699952 | 184694537 | ACAGATGA others(2): Show |
A | conservative_inframe_deletion | MODERATE | HG01074.hp2 HG01081.hp2 HG01109.hp1 others(19): Show |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0001a0006c0008t0001 | a0003c0003t0001g0003 a0003c0003t0001g0005 a0003c0003t0001g0023 others(17): Show |
22 | 326 | 0.0675 | -9 | c.145 others(18): Show |
p.Ala others(13): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 14/14 | 1758/2164 | 1450/1683 | 484/560 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
PRR36_chr19_7863719_7879390 | 7870537 | CAGGGGGA others(29): Show |
C | conservative_inframe_deletion | MODERATE | HG02132.hp2 HG02922.hp2 NA18944.hp1 others(1): Show |
a0006a0025 | a0006c0007a0025c0019 | a0006c0007t0002a0025c0019t0001 | a0006c0007t0002g0020 a0006c0007t0002g0026 a0025c0019t0001g0037 |
4 | 381 | 0.0105 | -36 | c.267 others(45): Show |
p.Pro others(13): Show |
PRR36 | ENSG00000183248.12 | transcript | ENST00000618550.5 | protein_coding | 5/6 | 2818/4467 | 2671/4041 | 891/1346 | chr19 | TogoVar | |||
PRSS3_chr9_33790561_33804231 | 33796692 | TGAG | T | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(64): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0015 others(1): Show |
67 | 422 | 0.1588 | -3 | c.94_ others(8): Show |
p.Glu others(5): Show |
PRSS3 | ENSG00000010438.17 | transcript | ENST00000379405.4 | protein_coding | 2/5 | 107/808 | 94/744 | 32/247 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
PRUNE2_chr9_76606376_76911114 | 76703941 | TTTC | T | conservative_inframe_deletion | MODERATE | HG02257.hp1 HG02559.hp1 HG02572.hp1 others(6): Show |
a0006 | a0006c0006a0006c0049a0006c0050 | a0006c0006t0001a0006c0006t0008a0006c0006t0018others(3): Show | a0006c0006t0001g0124 a0006c0006t0001g0177 a0006c0006t0001g0186 others(6): Show |
9 | 238 | 0.0378 | -3 | c.766 others(12): Show |
p.Glu others(7): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 9/19 | 7822/12612 | 7669/9267 | 2557/3088 | chr9 | TogoVar | |||
PRX_chr19_40388768_40418378 | 40396437 | CCTCAGGG others(8): Show |
C | conservative_inframe_deletion | MODERATE | HG03098.hp1 | a0025 | a0025c0032 | a0025c0032t0001 | a0025c0032t0001g0233 | 1 | 304 | 0.0033 | -15 | c.190 others(24): Show |
p.Met others(13): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 7/7 | 2197/4867 | 1900/4386 | 634/1461 | chr19 | TogoVar | |||
PSMB10_chr16_67929506_67941850 | 67934906 | CGGCGGTG others(86): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG03688.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0013 | 1 | 302 | 0.0033 | -93 | c.559 others(103): Show |
p.Leu others(13): Show |
PSMB10 | ENSG00000205220.12 | transcript | ENST00000358514.9 | protein_coding | 7/8 | 701/977 | 559/822 | 187/273 | chr16 | TogoVar | |||
PTPN18_chr2_130351056_130380405 | 130372355 | AGACGGG | A | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(156): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0003a0002c0004others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(30): Show | a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0002g0005 others(120): Show |
159 | 378 | 0.4206 | -6 | c.113 others(15): Show |
p.Thr others(13): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 13/15 | 1184/3616 | 1132/1383 | 378/460 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
PWWP2A_chr5_160086339_160124450 | 160119349 | ACGCTGCA others(11): Show |
A | conservative_inframe_deletion | MODERATE | HG00438.hp2 | a0004 | a0004c0016 | a0004c0016t0003 | a0004c0016t0003g0372 | 1 | 382 | 0.0026 | -18 | c.22_ others(23): Show |
p.Ala others(10): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 1/2 | 101/3373 | 22/2268 | 8/755 | chr5 | TogoVar | |||
PWWP4_chrX_153261152_153284145 | 153273193 | GCCCTGCG others(371): Show |
G | conservative_inframe_deletion | MODERATE | HG00609.hp1 HG02523.hp1 |
a0012 | a0012c0013 | a0012c0013t0003 | a0012c0013t0003g0018 a0012c0013t0003g0019 |
2 | 141 | 0.0142 | -378 | c.159 others(9): Show |
p.Ser others(13): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 4/4 | 2137/8071 | 1594/6186 | 532/2061 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
PWWP4_chrX_153261152_153284145 | 153276123 | ATTT | A | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(20): Show |
a0006a0007a0009others(6): Show | a0006c0008a0007c0010a0007c0035others(9): Show | a0006c0008t0001a0007c0010t0001a0007c0035t0001others(9): Show | a0006c0008t0001g0003 a0007c0010t0001g0038 a0007c0010t0001g0044 others(15): Show |
23 | 141 | 0.1631 | -3 | c.450 others(12): Show |
p.Phe others(7): Show |
PWWP4 | ENSG00000278803.3 | transcript | ENST00000458091.5 | protein_coding | 4/4 | 5050/8071 | 4507/6186 | 1503/2061 | chrX | TogoVar | |||
QRICH2_chr17_76269049_76313276 | 76292311 | CACCAGGT others(23): Show |
C | conservative_inframe_deletion | MODERATE | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(181): Show |
a0002a0004a0005others(7): Show | a0002c0002a0002c0004a0002c0021others(31): Show | a0002c0002t0001a0002c0004t0001a0002c0021t0001others(32): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0234 others(173): Show |
184 | 362 | 0.5083 | -30 | c.238 others(39): Show |
p.Ile others(13): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 4/19 | 2693/5972 | 2386/5664 | 796/1887 | chr17 | TogoVar | |||
QRICH2_chr17_76269049_76313276 | 76292824 | TACCAGGT others(53): Show |
T | conservative_inframe_deletion | MODERATE | HG01891.hp1 HG02486.hp1 HG02615.hp2 others(13): Show |
a0005 | a0005c0007a0005c0012a0005c0017 | a0005c0007t0003a0005c0012t0002a0005c0017t0003 | a0005c0007t0003g0012 a0005c0007t0003g0013 a0005c0007t0003g0014 others(13): Show |
16 | 362 | 0.0442 | -60 | c.184 others(69): Show |
p.Ala others(13): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 4/19 | 2180/5972 | 1843/5664 | 615/1887 | chr17 | TogoVar |