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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCL20_chr2_227808842_227822556 | 227815437 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02145.hp1 HG02258.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0031others(4): Show | 30 | 448 | 0.0670 | 1 | c.77- others(5): Show |
CCL20 | ENSG00000115009.13 | transcript | ENST00000358813.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCNL2_chr1_1380711_1404335 | 1398672 | CTAGAG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00544.hp1 HG00558.hp2 HG01109.hp1 others(49): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0002g0010a0001c0001t0002g0012a0001c0001t0002g0042others(35): Show | 52 | 370 | 0.1405 | -5 | c.289 others(16): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CCNP_chr19_40217208_40231689 | 40223386 | A | G | splice_donor_variant others(1): Show |
HIGH | HG02055.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0030 | 1 | 414 | 0.0024 | 0 | c.672 others(5): Show |
CCNP | ENSG00000105219.10 | transcript | ENST00000430325.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
CCNP_chr19_40217208_40231689 | 40223387 | C | G | splice_donor_variant others(1): Show |
HIGH | HG02055.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0030 | 1 | 414 | 0.0024 | 0 | c.672 others(5): Show |
CCNP | ENSG00000105219.10 | transcript | ENST00000430325.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
CD40_chr20_46113314_46134858 | 46128304 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0019others(44): Show | 118 | 416 | 0.2837 | 2 | c.647 others(13): Show |
CD40 | ENSG00000101017.15 | transcript | ENST00000372285.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0063others(39): Show | 163 | 393 | 0.4148 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133071270 | G | GC | frameshift_variant | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(42): Show |
a0001a0030 | a0001c0019a0001c0020a0001c0054others(40): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(40): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(42): Show | 45 | 416 | 0.1082 | 1 | c.177 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1799/2381 | 1777/2262 | 593/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071337 | CCCCCCCC others(58): Show |
C | frameshift_variant | HIGH | HG01099.hp2 HG02055.hp2 HG02698.hp2 others(2): Show |
a0001a0008a0067 | a0001c0064a0001c0066a0008c0103others(2): Show | a0001c0064t0001a0001c0066t0003a0008c0103t0001others(2): Show | a0001c0064t0001g0003a0001c0066t0003g0001a0008c0103t0001g0006others(2): Show | 5 | 416 | 0.0120 | -65 | c.184 others(74): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1865/2381 | 1843/2262 | 615/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071402 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(25): Show |
a0001a0005a0006others(2): Show | a0001c0019a0001c0054a0001c0056others(24): Show | a0001c0019t0001a0001c0054t0001a0001c0056t0001others(24): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0054t0001g0056others(25): Show | 28 | 416 | 0.0673 | 1 | c.190 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1931/2381 | 1909/2262 | 637/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071469 | CCCCCCCC others(91): Show |
C | frameshift_variant | HIGH | HG02055.hp1 | a0006 | a0006c0142 | a0006c0142t0001 | a0006c0142t0001g0051 | 1 | 416 | 0.0024 | -98 | c.197 others(107): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1997/2381 | 1975/2262 | 659/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071533 | G | GC | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(179): Show |
a0001a0002a0004others(26): Show | a0001c0019a0001c0020a0001c0054others(112): Show | a0001c0019t0001a0001c0020t0001a0001c0054t0001others(112): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0020t0001g0001others(140): Show | 182 | 416 | 0.4375 | 1 | c.204 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CEL_chr9_133056981_133076861 | 133071600 | G | GC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00597.hp2 others(44): Show |
a0001a0002a0004others(11): Show | a0001c0019a0001c0055a0001c0058others(42): Show | a0001c0019t0001a0001c0055t0001a0001c0058t0001others(42): Show | a0001c0019t0001g0001a0001c0019t0001g0003a0001c0055t0001g0001others(44): Show | 47 | 416 | 0.1130 | 1 | c.210 others(5): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2129/2381 | 2107/2262 | 703/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CENPV_chr17_16337537_16358469 | 16353140 | C | CG | frameshift_variant | HIGH | HG02055.hp1 HG02559.hp2 NA18967.hp1 others(4): Show |
a0003a0007 | a0003c0003a0007c0006 | a0003c0003t0001a0007c0006t0001 | a0003c0003t0001g0014a0003c0003t0001g0071a0003c0003t0001g0072others(1): Show | 7 | 356 | 0.0197 | 1 | c.296 others(4): Show |
p.Thr others(5): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 329/1132 | 296/819 | 99/272 | chr17 | TogoVar | ||
CFAP157_chr9_127701988_127721002 | 127713110 | A | AC | frameshift_variant | HIGH | HG00735.hp1 HG00741.hp2 HG01978.hp1 others(3): Show |
a0005 | a0005c0008a0005c0012 | a0005c0008t0002a0005c0012t0001 | a0005c0008t0002g0001a0005c0008t0002g0010a0005c0012t0001g0005others(1): Show | 6 | 354 | 0.0170 | 1 | c.139 others(5): Show |
p.Arg others(5): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 8/9 | 1442/3704 | 1398/1563 | 466/520 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
CGB1_chr19_49030569_49041895 | 49035611 | T | G | stop_lost | HIGH | HG01243.hp1 HG01433.hp1 HG01884.hp1 others(15): Show |
a0000 | a0000c0003a0000c0004a0000c0010others(2): Show | a0000c0003t0001a0000c0003t0004a0000c0004t0001others(3): Show | a0000c0003t0001g0015a0000c0003t0004g0008a0000c0004t0001g0010others(4): Show | 18 | 376 | 0.0479 | 0 | c.467 others(3): Show |
p.Ter others(11): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 3/3 | 651/693 | 467/468 | 156/155 | chr19 | TogoVar | ||
CHRM1_chr11_62903679_62926363 | 62910396 | A | AC | frameshift_variant | HIGH | HG00639.hp2 HG01099.hp2 HG01106.hp2 others(12): Show |
a0002 | a0002c0004a0002c0007 | a0002c0004t0001a0002c0004t0003a0002c0007t0001 | a0002c0004t0001g0058a0002c0004t0001g0064a0002c0004t0001g0088others(12): Show | 15 | 420 | 0.0357 | 1 | c.704 others(4): Show |
p.Gly others(5): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 2/2 | 928/2646 | 704/1383 | 235/460 | chr11 | TogoVar | ||
CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNKSR1_chr1_26172491_26194884 | 26185173 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp2 HG01109.hp1 others(10): Show |
a0004a0014a0015 | a0004c0005a0004c0017a0014c0014others(1): Show | a0004c0005t0001a0004c0005t0002a0004c0017t0001others(2): Show | a0004c0005t0001g0001a0004c0005t0001g0002a0004c0005t0001g0004others(9): Show | 13 | 372 | 0.0350 | 1 | c.129 others(5): Show |
p.Arg others(5): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 14/21 | 1355/2535 | 1298/2142 | 433/713 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL6A2_chr21_46093112_46134801 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(17): Show | a0001c0001t0001g0035a0001c0001t0001g0114a0001c0001t0001g0155others(80): Show | 100 | 372 | 0.2688 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46137848 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(21): Show | a0001c0001t0001g0036a0001c0001t0001g0114a0001c0002t0001g0322others(80): Show | 97 | 364 | 0.2665 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90638514 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00558.hp2 HG00735.hp1 others(28): Show |
a0003a0004 | a0003c0003a0003c0013a0003c0014others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(10): Show | a0003c0003t0001g0045a0003c0003t0001g0060a0003c0003t0001g0184others(28): Show | 31 | 276 | 0.1123 | 1 | c.134 others(5): Show |
p.Tyr others(5): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 12/15 | 1490/5214 | 1341/1860 | 447/619 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(317): Show | 412 | 448 | 0.9196 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
CYP3A43_chr7_99823013_99871093 | 99836454 | TA | T | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01516.hp1 HG01517.hp1 others(34): Show |
a0002 | a0002c0002a0002c0010a0002c0011others(3): Show | a0002c0002t0001a0002c0010t0001a0002c0011t0001others(3): Show | a0002c0002t0001g0037a0002c0002t0001g0039a0002c0002t0001g0040others(28): Show | 37 | 326 | 0.1135 | -1 | c.74d others(3): Show |
p.Tyr others(4): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 2/13 | 177/1707 | 74/1512 | 25/503 | chr7 | TogoVar | ||
CYP3A43_chr7_99823013_99871093 | 99863766 | AAAAATTA others(2166): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show |
a0002a0003a0007 | a0002c0010a0002c0011a0002c0014others(3): Show | a0002c0010t0001a0002c0011t0001a0002c0014t0001others(3): Show | a0002c0010t0001g0035a0002c0010t0001g0180a0002c0011t0001g0036others(13): Show | 28 | 326 | 0.0859 | -2173 | c.141 others(12): Show |
p.Ile others(13): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 13/13 | 1417/1512 | 473/503 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
CYP3A5_chr7_99643194_99684996 | 99652770 | T | TA | frameshift_variant | HIGH | HG02055.hp2 HG02257.hp1 HG02486.hp1 others(11): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002a0002c0003t0001g0014a0002c0003t0001g0046others(3): Show | 14 | 292 | 0.0480 | 1 | c.103 others(5): Show |
p.Thr others(5): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 11/13 | 1135/1720 | 1035/1509 | 345/502 | chr7 | TogoVar | ||
DAZ2_chrY_23214533_23296356 | 23249555 | CTTTTTTT others(7149): Show |
C | exon_loss_variant | HIGH | HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0038 | 5 | 54 | 0.0926 | -7156 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ3_chrY_24758069_24818393 | 24785027 | CTATGTCA others(7131): Show |
C | exon_loss_variant | HIGH | HG02055.hp1 HG02258.hp1 HG02717.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0007others(5): Show | 10 | 45 | 0.2222 | -7138 | c.859 others(16): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 14/19 | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24861624 | GTGAAGTA others(4773): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01074.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(25): Show | 28 | 41 | 0.6829 | -4780 | c.121 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DAZ4_chrY_24828919_24912040 | 24871328 | CTTCTGGG others(4749): Show |
C | exon_loss_variant | HIGH | HG01106.hp1 HG02055.hp1 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(5): Show | 8 | 41 | 0.1951 | -4756 | c.149 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(28): Show | 268 | 456 | 0.5877 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | ||
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show |
a0000a0002 | a0000c0002a0000c0004a0002c0003others(2): Show | a0000c0002t0001a0000c0004t0001a0002c0003t0001others(2): Show | a0000c0002t0001g0001a0000c0002t0001g0002a0000c0002t0001g0003others(16): Show | 233 | 460 | 0.5065 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
DEPP1_chr10_44971128_44983809 | 44977450 | C | CG | frameshift_variant | HIGH | HG00621.hp2 HG00642.hp1 HG00735.hp1 others(25): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0005others(3): Show | a0002c0003t0001g0009a0002c0003t0001g0012a0002c0003t0001g0022others(6): Show | 28 | 424 | 0.0660 | 1 | c.580 others(4): Show |
p.Arg others(5): Show |
DEPP1 | ENSG00000165507.9 | transcript | ENST00000298295.4 | protein_coding | 2/2 | 797/2120 | 580/639 | 194/212 | chr10 | TogoVar | ||
DFFA_chr1_10451522_10477529 | 10472433 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
a0002 | a0002c0002a0002c0004a0002c0006others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(57): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0008others(124): Show | 195 | 438 | 0.4452 | 1 | c.25d others(3): Show |
p.Val others(3): Show |
DFFA | ENSG00000160049.12 | transcript | ENST00000377038.8 | protein_coding | 1/6 | 96/6035 | 25/996 | 9/331 | chr1 | TogoVar | ||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(2): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0021others(40): Show | a0001c0001t0002g0052a0001c0001t0002g0083a0001c0001t0002g0139others(66): Show | 69 | 316 | 0.2184 | 9 | c.623 others(21): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(4): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(77): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0016a0001c0002t0001a0001c0002t0004others(31): Show | a0001c0001t0016g0286a0001c0002t0001g0027a0001c0002t0001g0043others(77): Show | 80 | 316 | 0.2532 | 11 | c.623 others(23): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96916417 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0019others(53): Show | 56 | 147 | 0.3810 | 1 | c.733 others(6): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(8111): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(18): Show |
a0006a0009a0011others(4): Show | a0006c0010a0009c0011a0009c0102others(6): Show | a0006c0010t0001a0006c0010t0003a0006c0010t0004others(8): Show | a0006c0010t0001g0011a0006c0010t0001g0140a0006c0010t0003g0139others(15): Show | 21 | 282 | 0.0745 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DNAAF4_chr15_55425308_55513234 | 55430684 | C | A | stop_gained | HIGH | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(50): Show |
a0004a0005 | a0004c0005a0004c0007a0005c0004 | a0004c0005t0001a0004c0005t0002a0004c0005t0003others(5): Show | a0004c0005t0001g0124a0004c0005t0001g0212a0004c0005t0001g0296others(50): Show | 53 | 338 | 0.1568 | 0 | c.124 others(4): Show |
p.Glu others(4): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 10/10 | 1617/1993 | 1249/1263 | 417/420 | chr15 | TogoVar | ||
DNAH11_chr7_21538039_21906839 | 21543345 | G | T | stop_gained | HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show |
a0008a0009a0016others(81): Show | a0008c0214a0008c0262a0008c0266others(98): Show | a0008c0214t0006a0008c0262t0001a0008c0266t0005others(99): Show | a0008c0214t0006g0175a0008c0262t0001g0139a0008c0266t0005g0137others(104): Show | 107 | 298 | 0.3591 | 0 | c.100 others(3): Show |
p.Glu others(3): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 1/82 | 307/14343 | 100/13551 | 34/4516 | chr7 | TogoVar | ||
DPP7_chr9_137105546_137119733 | 137110665 | G | GC | frameshift_variant | HIGH | HG01243.hp2 HG01891.hp1 HG02055.hp2 others(12): Show |
a0000 | a0000c0005a0000c0021a0000c0023 | a0000c0005t0001a0000c0021t0001a0000c0023t0001 | a0000c0005t0001g0010a0000c0005t0001g0081a0000c0005t0001g0082others(6): Show | 15 | 454 | 0.0330 | 1 | c.146 others(5): Show |
p.Pro others(5): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 13/13 | 1481/1601 | 1461/1479 | 487/492 | chr9 | TogoVar | ||
DRD4_chr11_632269_645706 | 639791 | A | AC | frameshift_variant | HIGH | HG00544.hp1 HG00642.hp2 HG01109.hp2 others(10): Show |
a0000 | a0000c0007a0000c0011a0000c0030others(2): Show | a0000c0007t0001a0000c0007t0002a0000c0011t0001others(3): Show | a0000c0007t0001g0001a0000c0007t0001g0003a0000c0007t0001g0005others(7): Show | 13 | 421 | 0.0309 | 1 | c.546 others(4): Show |
p.Ala others(5): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 583/1399 | 547/1260 | 183/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DTNBP1_chr6_15517807_15668028 | 15533238 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01255.hp1 HG02055.hp2 HG02280.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0003g0291a0002c0002t0001g0258a0002c0002t0001g0259others(8): Show | 11 | 314 | 0.0350 | 0 | c.667 others(5): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 8/9 | chr6 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76482880 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG01243.hp2 HG02055.hp1 others(7): Show |
a0005a0008 | a0005c0009a0005c0025a0005c0026others(3): Show | a0005c0009t0002a0005c0009t0008a0005c0025t0001others(4): Show | a0005c0009t0002g0101a0005c0009t0002g0162a0005c0009t0002g0164others(7): Show | 10 | 280 | 0.0357 | 1 | c.643 others(4): Show |
p.Arg others(5): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/11 | 1026/2641 | 644/1869 | 215/622 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
DUSP15_chr20_31856077_31875527 | 31861645 | C | A | stop_gained | HIGH | HG02055.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0074 | 1 | 378 | 0.0027 | 0 | c.466 others(3): Show |
p.Glu others(4): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 7/7 | 656/1224 | 466/708 | 156/235 | chr20 | TogoVar | ||
DYNLT5_chr1_66747459_66784047 | 66776404 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(52): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0010a0003c0003t0021 | a0003c0003t0002g0007a0003c0003t0002g0011a0003c0003t0002g0012others(30): Show | 55 | 402 | 0.1368 | 0 | c.336 others(5): Show |
DYNLT5 | ENSG00000152760.10 | transcript | ENST00000282670.7 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
DYRK4_chr12_4557208_4618875 | 4604918 | C | G | stop_gained | HIGH | HG02055.hp1 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0288 | 1 | 414 | 0.0024 | 0 | c.113 others(4): Show |
p.Tyr others(4): Show |
DYRK4 | ENSG00000010219.14 | transcript | ENST00000543431.6 | protein_coding | 11/15 | 1169/2065 | 1131/1905 | 377/634 | chr12 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0285a0001c0001t0001g0293a0001c0001t0001g0333others(196): Show | 213 | 374 | 0.5695 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005a0006 | a0002c0002a0002c0009a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0009g0000others(8): Show | 114 | 428 | 0.2664 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |