| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IQCM_chr4_149346709_149820843 | 149368884 | ATATATGT others(145): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0220a0007c0008t0002g0221 | 2 | 252 | 0.0079 | -152 | c.139 others(21): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
| IRAK2_chr3_10159919_10248745 | 10239995 | AAATTAGC others(145): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 292 | 0.0034 | -152 | c.176 others(18): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| KATNBL1_chr15_34135674_34215096 | 34143503 | ATTTCAGT others(145): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235a0001c0001t0004g0237a0001c0001t0004g0238others(1): Show | 4 | 344 | 0.0116 | -152 | c.883 others(17): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 9/9 | chr15 | TogoVar | |||||||
| KHDRBS2_chr6_61674961_62291225 | 61954640 | ACATACTT others(145): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0029others(65): Show | 68 | 244 | 0.2787 | -152 | c.483 others(19): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
| KLHL17_chr1_955584_970719 | 964595 | CGTCCGCA others(145): Show |
C | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 432 | 0.0023 | -152 | c.170 others(16): Show |
KLHL17 | ENSG00000187961.15 | transcript | ENST00000338591.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KLK4_chr19_50901351_50916395 | 50914372 | TCGCACAT others(145): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 414 | 0.0024 | -152 | c.-31 others(11): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 2978 | chr19 | TogoVar | |||||||
| LDHAL6A_chr11_18450856_18484601 | 18467897 | ATATATAT others(145): Show |
A | intron_variant | MODIFIER | HG02148.hp2 NA18945.hp1 NA18951.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0010a0001c0001t0002g0028a0001c0001t0002g0085others(5): Show | 11 | 420 | 0.0262 | -152 | c.418 others(17): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 884748 | GTCTCCAC others(145): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(54): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(22): Show | a0001c0001t0001g0225a0001c0002t0001g0044a0001c0002t0006g0050others(54): Show | 57 | 294 | 0.1939 | -152 | c.730 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 5/10 | chr16 | TogoVar | |||||||
| LMLN_chr3_197955217_198048720 | 198004410 | TATCTATA others(145): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0059 | a0001c0001t0005g0102a0001c0001t0005g0106a0001c0001t0005g0107others(1): Show | 4 | 258 | 0.0155 | -152 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| LMLN_chr3_197955217_198048720 | 198004457 | CCATCTAT others(145): Show |
C | intron_variant | MODIFIER | HG01346.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0030 | a0001c0001t0010g0092a0001c0001t0030g0094 | 2 | 258 | 0.0078 | -152 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| LOC128462377_chr16_89312046_89423292 | 89400411 | ACGGTCAT others(145): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0164a0001c0001t0000g0221a0001c0001t0000g0222others(2): Show | 5 | 366 | 0.0137 | -152 | c.9+1 others(15): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
| LOC128462377_chr16_89312046_89423292 | 89400488 | CGGTCATC others(145): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00642.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0007a0001c0001t0000g0014a0001c0001t0000g0015others(50): Show | 53 | 366 | 0.1448 | -152 | c.9+1 others(15): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
| LOC128462377_chr16_89312046_89423292 | 89400525 | ATGGTCAT others(145): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0035a0001c0001t0000g0057a0001c0001t0000g0060others(24): Show | 27 | 366 | 0.0738 | -152 | c.9+1 others(15): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
| LOC128462377_chr16_89312046_89423292 | 89400526 | TGGTCATC others(145): Show |
T | intron_variant | MODIFIER | HG01515.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0081a0001c0001t0000g0306 | 2 | 366 | 0.0055 | -152 | c.9+1 others(15): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
| LOC128462377_chr16_89312046_89423292 | 89400639 | ATGGTCAT others(145): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0191 | 1 | 366 | 0.0027 | -152 | c.9+1 others(15): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
| LOC128462377_chr16_89312046_89423292 | 89400640 | TGGTCATC others(145): Show |
T | intron_variant | MODIFIER | HG01978.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001a0001c0001t0000g0227 | 2 | 366 | 0.0055 | -152 | c.9+1 others(15): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
| LRCH2_chrX_115105616_115239096 | 115125406 | CATATATA others(145): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 238 | 0.0042 | -152 | c.179 others(19): Show |
LRCH2 | ENSG00000130224.15 | transcript | ENST00000317135.13 | protein_coding | 16/20 | chrX | TogoVar | |||||||
| LRRN1_chr3_3794431_3854834 | 3800531 | GTCCACGC others(145): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0028 | a0001c0001t0017g0274a0001c0001t0028g0105a0001c0001t0028g0106 | 3 | 422 | 0.0071 | -152 | c.-27 others(17): Show |
LRRN1 | ENSG00000175928.6 | transcript | ENST00000319331.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| LSG1_chr3_194635791_194677191 | 194644402 | ATAAATAA others(145): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG02895.hp1 |
a0001a0015 | a0001c0003a0015c0024 | a0001c0003t0007a0001c0003t0049a0015c0024t0001 | a0001c0003t0007g0317a0001c0003t0049g0315a0015c0024t0001g0389 | 3 | 408 | 0.0074 | -152 | c.179 others(16): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 13/13 | chr3 | TogoVar | |||||||
| LYPD8_chr1_248734415_248760759 | 248747351 | GCACCCAC others(145): Show |
G | intron_variant | MODIFIER | HG01243.hp2 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0179a0001c0001t0002g0075 | 2 | 374 | 0.0054 | -152 | c.337 others(15): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
| MAD1L1_chr7_1810795_2237945 | 2169708 | AGGCTGGA others(145): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01891.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0164a0001c0001t0001g0172a0001c0001t0001g0210others(17): Show | 20 | 264 | 0.0758 | -152 | c.987 others(19): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 10/18 | chr7 | TogoVar | |||||||
| MAD1L1_chr7_1810795_2237945 | 2169776 | CGGAGCAG others(145): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01069.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0105others(18): Show | 21 | 264 | 0.0796 | -152 | c.987 others(19): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 10/18 | chr7 | TogoVar | |||||||
| MAP4K4_chr2_101692707_101899690 | 101785658 | TCTTCTTT others(145): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02886.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0042 | a0001c0001t0022g0182a0001c0001t0022g0183a0001c0001t0022g0185others(1): Show | 4 | 310 | 0.0129 | -152 | c.124 others(17): Show |
MAP4K4 | ENSG00000071054.17 | transcript | ENST00000324219.9 | protein_coding | 2/32 | chr2 | TogoVar | |||||||
| MAPK8IP3_chr16_1701195_1775351 | 1761515 | CCACCATT others(145): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02965.hp2 HG03453.hp2 |
a0002 | a0002c0002a0002c0010 | a0002c0002t0025a0002c0010t0001 | a0002c0002t0025g0315a0002c0010t0001g0037a0002c0010t0001g0038 | 3 | 330 | 0.0091 | -152 | c.153 others(17): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MBD3L4_chr19_7032749_7045179 | 7035751 | CATATAAA others(145): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02486.hp1 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0024a0007c0008t0001g0039 | 2 | 262 | 0.0076 | -152 | c.*19 others(11): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 1997 | chr19 | TogoVar | |||||||
| MBD3L5_chr19_7025578_7038011 | 7035751 | CATATAAA others(145): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG03041.hp1 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0008 | 4 | 249 | 0.0161 | -152 | c.*28 others(11): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2741 | chr19 | TogoVar | |||||||
| MCRIP1_chr17_81817361_81838291 | 81818737 | CATAGTGA others(145): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG02027.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0022others(10): Show | 18 | 366 | 0.0492 | -152 | c.*43 others(11): Show |
MCRIP1 | ENSG00000225663.8 | transcript | ENST00000455127.7 | protein_coding | 3623 | chr17 | TogoVar | |||||||
| MEAK7_chr16_84471355_84509659 | 84479390 | GCTAATGC others(145): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02165.hp2 HG03490.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0144a0002c0003t0145 | a0001c0001t0144g0238a0002c0003t0145g0192 | 2 | 468 | 0.0043 | -152 | c.*37 others(9): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 8/8 | 371 | chr16 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2086163 | TGTGATCT others(145): Show |
T | intron_variant | MODIFIER | HG02698.hp2 HG04199.hp1 NA18986.hp2 others(1): Show |
a0003a0092 | a0003c0001a0003c0004a0092c0062 | a0003c0001t0001a0003c0001t0002a0003c0004t0002others(1): Show | a0003c0001t0001g0333a0003c0001t0002g0306a0003c0004t0002g0110others(1): Show | 4 | 403 | 0.0099 | -152 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| NAP1L4_chr11_2939437_2997329 | 2997080 | GTCTCTCC others(145): Show |
G | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 335 | 0.0030 | -152 | c.-49 others(11): Show |
NAP1L4 | ENSG00000205531.14 | transcript | ENST00000380542.9 | protein_coding | 4752 | chr11 | TogoVar | |||||||
| NDNF_chr4_121030613_121077535 | 121055496 | AATGAGAG others(145): Show |
A | intron_variant | MODIFIER | HG02040.hp2 NA18950.hp2 NA18966.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0085a0001c0006t0001g0029a0001c0006t0001g0084others(1): Show | 5 | 354 | 0.0141 | -152 | c.-1- others(15): Show |
NDNF | ENSG00000173376.14 | transcript | ENST00000379692.9 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805401 | CCTTCCCT others(145): Show |
C | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 | 1 | 319 | 0.0031 | -152 | c.-38 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3791 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241807260 | CTCCCCCC others(145): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0069 | 1 | 319 | 0.0031 | -152 | c.-20 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1932 | chr2 | TogoVar | |||||||
| NFE2L3_chr7_26147198_26192137 | 26176474 | GGCCGGGC others(145): Show |
G | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0248 | 1 | 400 | 0.0025 | -152 | c.571 others(17): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| NKAIN3_chr8_62243854_62989904 | 62581788 | TCTCCCAC others(145): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(45): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0013others(37): Show | a0001c0001t0007g0129a0001c0001t0007g0132a0001c0001t0008g0097others(45): Show | 48 | 144 | 0.3333 | -152 | c.192 others(17): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535520 | AGGGGGGA others(145): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0053 | a0001c0053t0004 | a0001c0053t0004g0176 | 1 | 324 | 0.0031 | -152 | c.140 others(17): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NRCAM_chr7_108142649_108461436 | 108325094 | TCTGGAAA others(145): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0023 | a0002c0023t0002 | a0002c0023t0002g0038 | 1 | 208 | 0.0048 | -152 | c.-17 others(21): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 2/32 | chr7 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 948956 | CCTGCCTC others(145): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0184 | 1 | 242 | 0.0041 | -152 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 949394 | GGCCTCCT others(145): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 242 | 0.0041 | -152 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| OR1L3_chr9_122670130_122681104 | 122679004 | CTATATTA others(145): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00639.hp1 others(46): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0000a0002c0002t0000a0005c0006t0000others(1): Show | a0001c0001t0000g0000a0002c0002t0000g0000a0005c0006t0000g0000others(1): Show | 49 | 380 | 0.1290 | -152 | c.*29 others(11): Show |
OR1L3 | ENSG00000171481.5 | transcript | ENST00000304820.5 | protein_coding | 2901 | chr9 | TogoVar | |||||||
| PANX2_chr22_50165731_50185295 | 50168687 | CGGGTTAT others(145): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp2 HG01515.hp1 HG01516.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0013others(11): Show | 20 | 440 | 0.0455 | -152 | c.-20 others(11): Show |
PANX2 | ENSG00000073150.14 | transcript | ENST00000395842.3 | protein_coding | 2043 | chr22 | TogoVar | |||||||
| PCCB_chr3_136245340_136335169 | 136299494 | GCATGTGT others(145): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 300 | 0.0033 | -152 | c.884 others(17): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
| PDXK_chr21_43714129_43767299 | 43741267 | CGGGGGGG others(145): Show |
C | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 358 | 0.0028 | -152 | c.143 others(15): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PEX5_chr12_7184686_7216459 | 7196895 | ATAATTAT others(145): Show |
A | intron_variant | MODIFIER | HG00438.hp1 NA18952.hp1 NA18967.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0088a0001c0001t0001g0103a0001c0001t0001g0104others(2): Show | 5 | 428 | 0.0117 | -152 | c.449 others(17): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PLEC_chr8_143910153_143944597 | 143928397 | CGGCGGCC others(145): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01109.hp1 others(1): Show |
a0001a0003a0057others(1): Show | a0001c0041a0003c0168a0057c0089others(1): Show | a0001c0041t0001a0003c0168t0001a0057c0089t0005others(1): Show | a0001c0041t0001g0220a0003c0168t0001g0167a0057c0089t0005g0106others(1): Show | 4 | 358 | 0.0112 | -152 | c.326 others(17): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000345136.8 | protein_coding | 25/31 | chr8 | TogoVar | |||||||
| PLEC_chr8_143910153_143978529 | 143928397 | CGGCGGCC others(145): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01109.hp1 others(1): Show |
a0001a0003a0052others(1): Show | a0001c0036a0003c0148a0052c0079others(1): Show | a0001c0036t0001a0003c0148t0001a0052c0079t0005others(1): Show | a0001c0036t0001g0216a0003c0148t0001g0280a0052c0079t0005g0114others(1): Show | 4 | 302 | 0.0133 | -152 | c.321 others(17): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 25/31 | chr8 | TogoVar | |||||||
| PLEKHG4B_chr5_87168_194966 | 164444 | GGGGGCGG others(145): Show |
G | intron_variant | MODIFIER | HG03139.hp1 HG06807.hp1 |
a0001 | a0001c0036a0001c0051 | a0001c0036t0077a0001c0051t0078 | a0001c0036t0077g0149a0001c0051t0078g0148 | 2 | 210 | 0.0095 | -152 | c.347 others(18): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 964595 | CGTCCGCA others(145): Show |
C | upstream_gene_variant | MODIFIER | NA18943.hp1 NA19009.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0003 | a0001c0001t0001g0157a0001c0018t0003g0013 | 2 | 422 | 0.0047 | -152 | c.-19 others(11): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1886 | chr1 | TogoVar | |||||||
| PPM1L_chr3_160751231_161083902 | 160803348 | AAGAAATG others(145): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(121): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0021others(121): Show | 124 | 206 | 0.6019 | -152 | c.399 others(19): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2122104 | TGGTGGTG others(145): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 286 | 0.0035 | -152 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar |