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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGAP3_chr7_151081475_151149434 | 151086813 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(332): Show | 344 | 354 | 0.9718 | 1 | c.73d others(3): Show |
p.Ala others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 341/3494 | 74/2736 | 25/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
AGAP3_chr7_151081475_151149434 | 151086821 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.81d others(3): Show |
p.Gln others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 349/3494 | 82/2736 | 28/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
AGAP3_chr7_151081475_151149434 | 151086831 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.91d others(3): Show |
p.Val others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 359/3494 | 92/2736 | 31/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
AMY1B_chr1_103682415_103701210 | 103691331 | G | T | stop_gained | HIGH | NA18984.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0064 | 1 | 160 | 0.0063 | 0 | c.106 others(4): Show |
p.Ser others(4): Show |
AMY1B | ENSG00000174876.17 | transcript | ENST00000330330.10 | protein_coding | 8/11 | 1279/1785 | 1064/1536 | 355/511 | chr1 | TogoVar | ||
AMY1C_chr1_103744898_103763692 | 103754777 | C | A | stop_gained | HIGH | NA18984.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0053 | 1 | 340 | 0.0029 | 0 | c.106 others(4): Show |
p.Ser others(4): Show |
AMY1C | ENSG00000187733.7 | transcript | ENST00000622339.5 | protein_coding | 8/11 | 1279/1785 | 1064/1536 | 355/511 | chr1 | TogoVar | ||
ANKDD1B_chr5_75606453_75676846 | 75669297 | G | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(139): Show |
a0001a0006a0007others(10): Show | a0001c0001a0001c0019a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(122): Show | 142 | 372 | 0.3817 | 0 | c.143 others(4): Show |
p.Trp others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 13/14 | 1621/2575 | 1439/1587 | 480/528 | chr5 | TogoVar | ||
APOL4_chr22_36184128_36206809 | 36201698 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0028a0002c0002t0002others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0031others(30): Show | 58 | 434 | 0.1336 | 0 | c.35+ others(4): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
ARPC5L_chr9_124857130_124882733 | 124862400 | A | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(111): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0019others(42): Show | 114 | 404 | 0.2822 | 0 | c.-98 others(6): Show |
ARPC5L | ENSG00000136950.13 | transcript | ENST00000353214.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50745132 | T | C | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0.8382 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/6 | 149/5145 | 2/483 | 1/160 | chr10 | TogoVar | ||
ATP4A_chr19_35545031_35568658 | 35563432 | A | AC | frameshift_variant | HIGH | HG01175.hp2 HG01346.hp2 HG01952.hp1 others(8): Show |
a0003 | a0003c0006a0003c0011a0003c0016others(3): Show | a0003c0006t0001a0003c0011t0002a0003c0016t0001others(3): Show | a0003c0006t0001g0071a0003c0006t0001g0073a0003c0006t0001g0074others(7): Show | 11 | 426 | 0.0258 | 1 | c.107 others(4): Show |
p.Gly others(4): Show |
ATP4A | ENSG00000105675.9 | transcript | ENST00000262623.4 | protein_coding | 2/22 | 136/3721 | 107/3108 | 36/1035 | chr19 | TogoVar | ||
ATP6V1G1_chr9_114582769_114603879 | 114597738 | G | T | stop_gained | HIGH | NA18972.hp2 NA18984.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0001a0003c0003t0002g0046 | 2 | 420 | 0.0048 | 0 | c.352 others(3): Show |
p.Gly others(4): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 3/3 | 422/1563 | 352/357 | 118/118 | chr9 | TogoVar | ||
AZGP1_chr7_99961730_99981031 | 99967078 | GTCCTGCG others(2020): Show |
G | exon_loss_variant | HIGH | NA18952.hp2 NA18984.hp2 |
a0000 | a0000c0007 | a0000c0007t0001 | a0000c0007t0001g0091a0000c0007t0001g0092 | 2 | 432 | 0.0046 | -2027 | c.338 others(11): Show |
AZGP1 | ENSG00000160862.13 | transcript | ENST00000292401.9 | protein_coding | 3/4 | 832/1181 | chr7 | TogoVar | |||||
BTNL2_chr6_32388339_32412181 | 32394744 | C | A | stop_gained others(1): Show |
HIGH | HG00438.hp2 HG02015.hp2 HG02129.hp2 others(42): Show |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0001a0004c0003t0003g0015a0004c0003t0003g0042others(10): Show | 45 | 453 | 0.0993 | 0 | c.136 others(4): Show |
p.Glu others(4): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 6/8 | 1418/1564 | 1360/1449 | 454/482 | chr6 | TogoVar | ||
C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067a0001c0001t0001g0118a0001c0001t0002g0002others(98): Show | 157 | 372 | 0.4220 | 1 | c.397 others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18150879 | T | TTTTTG | splice_acceptor_variant others(1): Show |
HIGH | HG02040.hp2 HG03041.hp1 HG03492.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0171a0001c0001t0004g0163a0001c0001t0004g0165others(5): Show | 8 | 200 | 0.0400 | 5 | c.121 others(16): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 536144 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(29): Show | a0001c0001t0001g0017a0001c0001t0001g0350a0001c0001t0001g0362others(41): Show | 46 | 410 | 0.1122 | 0 | c.-23 others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | chr16 | TogoVar | ||||||
CATSPER2_chr15_43623503_43653844 | 43632936 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | c.117 others(6): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | chr15 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44793589 | A | AC | frameshift_variant | HIGH | HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show |
a0000 | a0000c0002a0000c0004a0000c0007others(1): Show | a0000c0002t0001a0000c0004t0001a0000c0007t0001others(1): Show | a0000c0002t0001g0012a0000c0002t0001g0013a0000c0002t0001g0032others(41): Show | 47 | 344 | 0.1366 | 1 | c.125 others(5): Show |
p.Gln others(5): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 8/11 | 1298/1576 | 1256/1425 | 419/474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
CCDC138_chr2_108781771_108881578 | 108788018 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(75): Show | 79 | 220 | 0.3591 | 1 | c.94- others(5): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC163_chr1_45488866_45505073 | 45499365 | AGATACAG others(58): Show |
A | frameshift_variant | HIGH | NA18944.hp1 NA18969.hp1 NA18971.hp2 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0013a0003c0003t0006g0067a0003c0003t0006g0068others(1): Show | 10 | 408 | 0.0245 | -65 | c.92_ others(71): Show |
p.Pro others(4): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 2/5 | 620/2095 | 92/438 | 31/145 | chr1 | TogoVar | ||
CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(133): Show | 261 | 362 | 0.7210 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
CCDC7_chr10_32441140_32887864 | 32518506 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(44): Show |
a0001a0020 | a0001c0002a0020c0018 | a0001c0002t0001a0020c0018t0001 | a0001c0002t0001g0125a0001c0002t0001g0126a0001c0002t0001g0127others(44): Show | 47 | 368 | 0.1277 | 0 | c.993 others(5): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 12/43 | chr10 | TogoVar | ||||||
CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0004others(5): Show | a0002c0002t0002a0002c0003t0001a0002c0003t0002others(6): Show | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0018others(115): Show | 211 | 406 | 0.5197 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071467 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show |
a0001a0004a0005others(3): Show | a0001c0073a0001c0190a0001c0192others(26): Show | a0001c0073t0001a0001c0190t0001a0001c0192t0001others(26): Show | a0001c0073t0001g0001a0001c0190t0001g0005a0001c0192t0001g0002others(31): Show | 38 | 416 | 0.0914 | 1 | c.196 others(10): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | chr9 | TogoVar | ||
CEL_chr9_133056981_133076861 | 133071469 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG02071.hp2 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001a0013a0068 | a0001c0076a0013c0013a0013c0033others(4): Show | a0001c0076t0002a0013c0013t0001a0013c0033t0001others(4): Show | a0001c0076t0002g0071a0013c0013t0001g0001a0013c0013t0001g0055others(8): Show | 11 | 416 | 0.0264 | -32 | c.197 others(41): 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 | 133071535 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001a0004a0006others(4): Show | a0001c0192a0001c0194a0001c0195others(22): Show | a0001c0192t0001a0001c0194t0001a0001c0195t0001others(22): Show | a0001c0192t0001g0002a0001c0194t0001g0002a0001c0195t0001g0084others(28): Show | 42 | 416 | 0.1010 | -32 | c.204 others(41): 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 | |
CEP89_chr19_32870925_32976958 | 32879164 | A | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(46): Show |
a0000 | a0000c0005a0000c0007a0000c0012 | a0000c0005t0005a0000c0005t0019a0000c0005t0020others(7): Show | a0000c0005t0005g0097a0000c0005t0005g0098a0000c0005t0005g0099others(46): Show | 49 | 386 | 0.1269 | 0 | c.235 others(4): Show |
p.Ter others(11): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 19/19 | 2434/5673 | 2350/2352 | 784/783 | chr19 | 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 | |||||
CNOT1_chr16_58514951_58634826 | 58581514 | T | TTCTAAAA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18984.hp2 | a0003 | a0003c0020 | a0003c0020t0001 | a0003c0020t0001g0149 | 1 | 308 | 0.0033 | 11 | c.104 others(23): Show |
p.Asn others(5): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 11/49 | 1318/8411 | 1045/7131 | 349/2376 | chr16 | TogoVar | ||
CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0065others(135): Show | 138 | 218 | 0.6330 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | 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 | |||||
COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show |
a0001a0004a0006others(18): Show | a0001c0001a0001c0014a0001c0040others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(98): Show | 104 | 292 | 0.3562 | -1 | c.777 others(5): Show |
p.Leu others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8110/8969 | 7772/7845 | 2591/2614 | INFO_REALIGN_3_PRIME | chr3 | 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 | |||||
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(240): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0049others(237): Show | 243 | 386 | 0.6295 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | 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 | ||||||
CYP2D6_chr22_42121499_42135810 | 42123462 | TTTTTTAG others(12144): Show |
T | transcript_ablation | HIGH | HG00099.hp2 HG01891.hp2 HG02300.hp1 others(6): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 9 | 417 | 0.0216 | -12151 | c.-48 others(11): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | 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 | |
DIDO1_chr20_62872743_62931505 | 62926430 | ACCGCAGG | A | splice_donor_variant others(2): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0009a0002c0002a0003c0003others(8): Show | a0001c0009t0001a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0009t0001g0024a0002c0002t0001g0267a0003c0003t0001g0021others(55): Show | 66 | 320 | 0.2063 | -7 | c.-20 others(20): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122581581 | CAGAAATG others(12696): Show |
C | exon_loss_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(37): Show |
a0003a0008a0011others(6): Show | a0003c0005a0003c0017a0003c0086others(10): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(12): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(34): Show | 40 | 282 | 0.1418 | -12703 | c.142 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 15/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0003a0004a0007others(32): Show | a0003c0005a0003c0017a0003c0086others(38): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(44): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(90): Show | 99 | 282 | 0.3511 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(8111): Show |
T | exon_loss_variant | HIGH | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(13): Show |
a0006a0008a0011others(2): Show | a0006c0012a0008c0009a0008c0028others(3): Show | a0006c0012t0002a0008c0009t0002a0008c0028t0003others(4): Show | a0006c0012t0002g0188a0006c0012t0002g0189a0006c0012t0002g0190others(11): Show | 16 | 282 | 0.0567 | -8118 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DNAJC28_chr21_33483055_33496716 | 33488442 | CAATTA | C | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0012others(3): Show | 61 | 415 | 0.1470 | -5 | c.947 others(12): Show |
p.Leu others(5): Show |
DNAJC28 | ENSG00000177692.13 | transcript | ENST00000381947.4 | protein_coding | 2/2 | 1097/1485 | 947/1167 | 316/388 | chr21 | TogoVar | ||
DPM3_chr1_155134891_155145531 | 155139995 | TCGGGCCT others(6): Show |
T | frameshift_variant | HIGH | NA18984.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0006 | 1 | 350 | 0.0029 | -13 | c.233 others(20): Show |
p.Ile others(4): Show |
DPM3 | ENSG00000179085.8 | transcript | ENST00000368400.5 | protein_coding | 2/2 | 291/396 | 233/279 | 78/92 | chr1 | TogoVar | ||
DPM3_chr1_155134891_155145531 | 155140156 | C | A | stop_gained | HIGH | NA18984.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0006 | 1 | 350 | 0.0029 | 0 | c.85G others(2): Show |
p.Glu others(3): Show |
DPM3 | ENSG00000179085.8 | transcript | ENST00000368400.5 | protein_coding | 2/2 | 131/396 | 85/279 | 29/92 | chr1 | TogoVar | ||
DPM3_chr1_155134891_155145531 | 155140171 | C | A | stop_gained | HIGH | NA18984.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0006 | 1 | 350 | 0.0029 | 0 | c.70G others(2): Show |
p.Gly others(3): Show |
DPM3 | ENSG00000179085.8 | transcript | ENST00000368400.5 | protein_coding | 2/2 | 116/396 | 70/279 | 24/92 | chr1 | TogoVar | ||
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | 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 | ||||||
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 |