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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH4_chr20_61247261_61945617 | 61641749 | CCCACCAG others(257): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0018a0002c0004t0003 | a0001c0001t0002g0007a0001c0001t0018g0039a0002c0004t0003g0034 | 3 | 106 | 0.0283 | -264 | c.170 others(21): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDK12_chr17_39456486_39539544 | 39498944 | TTTCTTTC others(257): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02698.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0125a0001c0001t0002g0038a0001c0001t0002g0044 | 3 | 260 | 0.0115 | -264 | c.242 others(19): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CEL_chr9_133056981_133076861 | 133071410 | CGTGCCGC others(257): Show |
C | disruptive_inframe_deletion | MODERATE | HG02895.hp1 HG03471.hp2 NA20129.hp1 |
a0019 | a0019c0014 | a0019c0014t0001 | a0019c0014t0001g0017a0019c0014t0001g0052 | 3 | 416 | 0.0072 | -264 | c.191 others(9): Show |
p.Pro others(13): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1936/2381 | 1914/2262 | 638/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CFAP46_chr10_132803392_132947570 | 132914325 | GCCCGAGG others(257): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00738.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0080others(2): Show | a0001c0001t0002a0002c0002t0001a0003c0080t0002others(2): Show | a0001c0001t0002g0011a0002c0002t0001g0190a0003c0080t0002g0074others(2): Show | 5 | 246 | 0.0203 | -264 | c.212 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 17/57 | chr10 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134849163 | CAGATCAC others(257): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0147a0001c0004t0002g0046 | 2 | 272 | 0.0074 | -264 | c.*68 others(11): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4321 | chr9 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314590 | GCACCTGC others(257): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154 | 1 | 159 | 0.0063 | -264 | c.*51 others(11): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4656 | chrX | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79691849 | GGAGTGGA others(257): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG03130.hp2 |
a0005 | a0005c0011 | a0005c0011t0005 | a0005c0011t0005g0367a0005c0011t0005g0368 | 2 | 378 | 0.0053 | -264 | c.315 others(17): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87652600 | TGATCCCA others(257): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0045 | 1 | 236 | 0.0042 | -264 | c.182 others(18): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DDX51_chr12_132131594_132149319 | 132148890 | ACCTCGGT others(257): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 HG03139.hp1 |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0002a0003c0006t0006 | a0002c0002t0002g0003a0003c0006t0006g0016 | 2 | 334 | 0.0060 | -264 | c.-48 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4572 | chr12 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132148957 | ACTCCTAC others(257): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 334 | 0.0030 | -264 | c.-49 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4639 | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 417601 | TAGGCATC others(257): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 88 | 0.0114 | -264 | c.739 others(17): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713574 | CCACGCAC others(257): Show |
C | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 412 | 0.0024 | -264 | c.*33 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 992 | chr19 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2714040 | TCCCATCC others(257): Show |
T | downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0097 | 1 | 412 | 0.0024 | -264 | c.*29 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 526 | chr19 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565308 | ACTGTCTG others(257): Show |
A | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 340 | 0.0029 | -264 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565780 | ACTCTGTC others(257): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02055.hp1 HG02074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0084a0001c0001t0001g0169others(1): Show | 6 | 340 | 0.0177 | -264 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137567454 | TGGGTGAC others(257): Show |
T | intron_variant | MODIFIER | NA18951.hp1 NA19007.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0284 | 3 | 340 | 0.0088 | -264 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154660980 | ATTCATAT others(257): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0024 | a0001c0024t0028 | a0001c0024t0028g0003 | 1 | 38 | 0.0263 | -264 | c.681 others(17): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154661559 | TAGTCATG others(257): Show |
T | intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0012 | a0002c0012t0021 | a0002c0012t0021g0035 | 1 | 38 | 0.0263 | -264 | c.681 others(17): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FAM149A_chr4_186099704_186180337 | 186175668 | CAATTAAA others(257): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(116): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0005a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(39): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(114): Show | 119 | 390 | 0.3051 | -264 | c.*36 others(11): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 332 | chr4 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817479 | GCCCTCCA others(257): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0048 | a0001c0003t0048g0289 | 1 | 308 | 0.0033 | -264 | c.134 others(15): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817547 | CCTCCACA others(257): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0079 | a0001c0003t0079g0299 | 1 | 308 | 0.0033 | -264 | c.134 others(15): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43567779 | ATCCTGTG others(257): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0163 | 1 | 182 | 0.0055 | -264 | c.*58 others(11): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 1779 | chr7 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236379323 | AAGGGGAG others(257): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0073 | 1 | 208 | 0.0048 | -264 | c.147 others(18): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7593343 | ACTGCAGC others(257): Show |
A | intron_variant | MODIFIER | HG01168.hp1 | a0004 | a0004c0008 | a0004c0008t0029 | a0004c0008t0029g0072 | 1 | 342 | 0.0029 | -264 | c.940 others(17): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20931887 | GAGTCTAA others(257): Show |
G | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0010 | 1 | 80 | 0.0125 | -264 | c.62- others(17): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
LKAAEAR1_chr20_64078376_64089398 | 64087097 | GACACAAG others(257): Show |
G | upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 102 | 0.0098 | -264 | c.-31 others(11): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 2700 | chr20 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 961828 | GACAGACT others(257): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 294 | 0.0034 | -264 | c.194 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46183518 | GGGAGACC others(257): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02886.hp1 HG03195.hp2 |
a0007 | a0007c0010 | a0007c0010t0014 | a0007c0010t0014g0266a0007c0010t0014g0267a0007c0010t0014g0268 | 3 | 358 | 0.0084 | -264 | c.*73 others(11): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 4927 | chr21 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113068519 | CCCAGCTA others(257): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0009 | a0003c0009t0011 | a0003c0009t0011g0101 | 1 | 116 | 0.0086 | -264 | c.882 others(17): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113069245 | GCCAGCTA others(257): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0009 | a0003c0009t0011 | a0003c0009t0011g0101 | 1 | 116 | 0.0086 | -264 | c.882 others(15): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544523 | GGGGGGGA others(257): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG02486.hp2 others(2): Show |
a0001a0015 | a0001c0001a0015c0024 | a0001c0001t0001a0001c0001t0002a0015c0024t0001 | a0001c0001t0001g0164a0001c0001t0001g0184a0001c0001t0002g0098others(2): Show | 5 | 286 | 0.0175 | -264 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MOBP_chr3_39462680_39508027 | 39468792 | GTGTATAT others(257): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0032a0001c0001t0008g0177 | 3 | 400 | 0.0075 | -264 | c.-89 others(17): Show |
MOBP | ENSG00000168314.19 | transcript | ENST00000684792.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2085673 | CCCACTGT others(257): Show |
C | intron_variant | MODIFIER | NA18973.hp2 | a0003 | a0003c0001 | a0003c0001t0003 | a0003c0001t0003g0273 | 1 | 403 | 0.0025 | -264 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYOM2_chr8_2040046_2150456 | 2085939 | CCCACTGT others(257): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp2 others(14): Show |
a0002a0003a0004others(6): Show | a0002c0033a0003c0001a0003c0004others(8): Show | a0002c0033t0001a0003c0001t0001a0003c0001t0002others(9): Show | a0002c0033t0001g0108a0003c0001t0001g0131a0003c0001t0001g0225others(14): Show | 17 | 403 | 0.0422 | -264 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79525213 | CGTTACCC others(257): Show |
C | intron_variant | MODIFIER | HG02451.hp1 NA19240.hp1 |
a0001 | a0001c0021a0001c0054 | a0001c0021t0047a0001c0054t0041 | a0001c0021t0047g0116a0001c0054t0041g0007 | 2 | 322 | 0.0062 | -264 | c.278 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79525226 | TCCTCCCC others(257): Show |
T | intron_variant | MODIFIER | HG02129.hp1 NA18906.hp1 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0011a0001c0006t0002 | a0001c0005t0011g0131a0001c0006t0002g0076 | 2 | 322 | 0.0062 | -264 | c.278 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132148890 | ACCTCGGT others(257): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0191 | 1 | 294 | 0.0034 | -264 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132148962 | TACCACAC others(257): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 294 | 0.0034 | -264 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132149432 | CGCCGCCT others(257): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 294 | 0.0034 | -264 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132149529 | ACTCACAC others(257): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 294 | 0.0034 | -264 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150409 | CACCACAC others(257): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 294 | 0.0034 | -264 | c.902 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NPIPB4_chr16_21829582_21862756 | 21837096 | AAGGTGTC others(257): Show |
A | conservative_inframe_deletion | MODERATE | HG01099.hp2 HG01109.hp2 |
a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0107a0015c0017t0001g0110 | 2 | 204 | 0.0098 | -264 | c.102 others(9): Show |
p.Pro others(13): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1505/4020 | 1027/3669 | 343/1222 | chr16 | TogoVar | ||
NXN_chr17_794310_984776 | 948844 | CTGCCTCC others(257): Show |
C | intron_variant | MODIFIER | HG03130.hp2 NA18522.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0229a0001c0002t0009g0008a0001c0002t0009g0009 | 3 | 242 | 0.0124 | -264 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3686243 | CCCCCCGC others(257): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 362 | 0.0028 | -264 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3686576 | CCCCCCGC others(257): Show |
C | intron_variant | MODIFIER | HG00280.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246a0001c0001t0001g0266 | 2 | 362 | 0.0055 | -264 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300636 | TCTTTCTT others(257): Show |
T | intron_variant | MODIFIER | NA18939.hp1 NA18942.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0255a0002c0002t0002g0256 | 2 | 284 | 0.0070 | -264 | c.-27 others(19): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69300640 | TCTTTCTT others(257): Show |
T | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0259 | 1 | 284 | 0.0035 | -264 | c.-27 others(19): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PKP3_chr11_389209_409908 | 401784 | CGACCCCC others(257): Show |
C | intron_variant | MODIFIER | HG01175.hp1 NA18966.hp1 |
a0001a0004 | a0001c0001a0004c0015 | a0001c0001t0001a0004c0015t0001 | a0001c0001t0001g0067a0004c0015t0001g0041 | 2 | 216 | 0.0093 | -264 | c.173 others(19): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRKAR2A_chr3_48741586_48852874 | 48808489 | ATGATCCA others(257): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03098.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0156a0001c0001t0005g0153a0001c0001t0006g0055 | 3 | 166 | 0.0181 | -264 | c.263 others(16): Show |
PRKAR2A | ENSG00000114302.17 | transcript | ENST00000265563.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66798470 | GTGGTGGT others(257): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0126 | 1 | 178 | 0.0056 | -264 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |