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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AADACL3_chr1_12711110_12733760 | 12716215 | C | A | stop_gained | HIGH | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
a0002 | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(11): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(26): Show | 73 | 432 | 0.1690 | 0 | c.39C others(2): Show |
p.Cys others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 106/4055 | 39/1224 | 13/407 | chr1 | TogoVar | ||
ABCB5_chr7_20610667_20762008 | 20626612 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp1 others(68): Show |
a0002a0003a0005others(11): Show | a0002c0003a0003c0002a0003c0010others(14): Show | a0002c0003t0001a0003c0002t0001a0003c0002t0002others(20): Show | a0002c0003t0001g0349a0003c0002t0001g0117a0003c0002t0001g0137others(68): Show | 71 | 360 | 0.1972 | 0 | c.108 others(5): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 3/27 | chr7 | TogoVar | ||||||
ACOT8_chr20_45836721_45862392 | 45857313 | C | CATCT | frameshift_variant others(1): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG02165.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0022a0001c0002t0001g0035others(3): Show | 11 | 422 | 0.0261 | 4 | c.-2_ others(8): Show |
p.Met others(3): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 1/6 | 79/1154 | 2/960 | 1/319 | chr20 | TogoVar | ||
ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0011a0013others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010others(67): Show | 150 | 400 | 0.3750 | 0 | c.172 others(4): Show |
p.Arg others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1764/2882 | 1729/2706 | 577/901 | chr11 | TogoVar | ||
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 | |
AGAP6_chr10_49983406_50015499 | 50009462 | TGCAGTCA others(7): Show |
T | frameshift_variant | HIGH | NA18952.hp1 NA18962.hp1 NA19004.hp2 |
a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0001 | 3 | 406 | 0.0074 | -14 | c.134 others(23): Show |
p.Ser others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 8/8 | 1653/2684 | 1343/2061 | 448/686 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 209 | 394 | 0.5305 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97188507 | GGTGAGAG others(1883): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show |
a0003a0006a0007others(6): Show | a0003c0003a0006c0008a0006c0034others(7): Show | a0003c0003t0001a0006c0008t0001a0006c0008t0009others(8): Show | a0003c0003t0001g0133a0003c0003t0001g0135a0003c0003t0001g0142others(44): Show | 47 | 212 | 0.2217 | -1890 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD36_chr2_97108153_97269521 | 97208387 | GTTGTAAC others(29496): Show |
G | exon_loss_variant | HIGH | HG00558.hp2 NA18952.hp1 NA18961.hp2 others(5): Show |
a0015a0031a0034others(2): Show | a0015c0015a0031c0051a0034c0050others(2): Show | a0015c0015t0001a0031c0051t0001a0034c0050t0001others(2): Show | a0015c0015t0001g0088a0015c0015t0001g0089a0015c0015t0001g0109others(5): Show | 8 | 212 | 0.0377 | -29503 | c.326 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 55/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKRD7_chr7_118219704_118247732 | 118236927 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 406 | 0.0025 | 0 | c.712 others(5): Show |
ANKRD7 | ENSG00000106013.15 | transcript | ENST00000265224.9 | protein_coding | 5/6 | chr7 | TogoVar | ||||||
APOBEC3A_chr22_38952609_38968184 | 38962275 | GGCCTTGC others(5902): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0000 | a0000c0004a0000c0010 | a0000c0004t0003a0000c0010t0003 | a0000c0004t0003g0004a0000c0004t0003g0045a0000c0004t0003g0050others(2): Show | 37 | 360 | 0.1028 | -5909 | c.585 others(12): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | 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 | ||
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 | |||||
BTN3A2_chr6_26360198_26383312 | 26368051 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0004a0005 | a0004c0005a0005c0006 | a0004c0005t0003a0004c0005t0049a0005c0006t0003 | a0004c0005t0003g0001a0004c0005t0003g0029a0004c0005t0003g0030others(6): Show | 35 | 382 | 0.0916 | 0 | c.-6+ others(4): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(241): Show | 406 | 414 | 0.9807 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | 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 | 18150855 | C | CTTTTTTT others(8): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp1 HG01243.hp2 HG01943.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0025a0001c0001t0003g0026a0001c0001t0003g0047others(11): Show | 14 | 200 | 0.0700 | 15 | c.121 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | 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 | |||||
CBY2_chr13_45697320_45719559 | 45713882 | C | A | stop_gained | HIGH | HG00140.hp2 HG00597.hp2 HG01928.hp1 others(33): Show |
a0003 | a0003c0003a0003c0015a0003c0019 | a0003c0003t0001a0003c0015t0001a0003c0019t0001 | a0003c0003t0001g0003a0003c0003t0001g0004a0003c0003t0001g0007others(6): Show | 36 | 440 | 0.0818 | 0 | c.857 others(3): Show |
p.Ser others(4): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 3/3 | 928/1605 | 857/1347 | 286/448 | chr13 | 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 | ||||||
CCDC27_chr1_3747450_3776645 | 3754240 | T | A | stop_gained others(1): Show |
HIGH | NA18952.hp1 | a0033 | a0033c0031 | a0033c0031t0001 | a0033c0031t0001g0210 | 1 | 428 | 0.0023 | 0 | c.441 others(3): Show |
p.Cys others(4): Show |
CCDC27 | ENSG00000162592.10 | transcript | ENST00000294600.7 | protein_coding | 2/12 | 473/2125 | 441/1971 | 147/656 | chr1 | 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 | |||||
CEACAM20_chr19_44501159_44534675 | 44511144 | AG | A | frameshift_variant | HIGH | HG02040.hp2 NA18945.hp2 NA18946.hp1 others(5): Show |
a0012a0019 | a0012c0016a0019c0026 | a0012c0016t0001a0012c0016t0002a0019c0026t0001 | a0012c0016t0001g0289a0012c0016t0001g0295a0012c0016t0001g0309others(5): Show | 8 | 438 | 0.0183 | -1 | c.162 others(5): Show |
p.Pro others(5): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 11/12 | 1788/1959 | 1622/1791 | 541/596 | chr19 | 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 | 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 | |
CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0013others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(41): Show | 175 | 484 | 0.3616 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar | ||
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12212): Show |
stop_gained others(1): Show |
HIGH | HG02083.hp1 NA18952.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0077a0002c0004t0001g0096 | 2 | 444 | 0.0045 | 12219 | c.236 others(12226): Show |
p.Gln others(12230): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | 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 | |||||
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 | |
CPN2_chr3_194334768_194356328 | 194341178 | G | A | stop_gained | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(133): Show |
a0002a0005a0010others(4): Show | a0002c0002a0002c0011a0002c0014others(7): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(17): Show | a0002c0002t0003g0002a0002c0002t0003g0004a0002c0002t0003g0006others(62): Show | 136 | 440 | 0.3091 | 0 | c.152 others(4): Show |
p.Gln others(4): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 2/2 | 1615/3025 | 1525/1638 | 509/545 | chr3 | TogoVar | ||
CSNK2A3_chr11_11346942_11358250 | 11352282 | G | A | stop_gained | HIGH | NA18952.hp1 | a0017 | a0017c0016 | a0017c0016t0001 | a0017c0016t0001g0000 | 1 | 452 | 0.0022 | 0 | c.838 others(3): Show |
p.Arg others(4): Show |
CSNK2A3 | ENSG00000254598.3 | transcript | ENST00000528848.3 | protein_coding | 1/1 | 969/1309 | 838/1176 | 280/391 | chr11 | 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 | ||
CST11_chr20_23445412_23457876 | 23452607 | G | A | stop_gained | HIGH | NA18952.hp1 NA18978.hp2 NA18980.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0014 | 4 | 446 | 0.0090 | 0 | c.205 others(3): Show |
p.Arg others(3): Show |
CST11 | ENSG00000125831.10 | transcript | ENST00000377009.8 | protein_coding | 1/3 | 270/576 | 205/417 | 69/138 | chr20 | TogoVar | ||
CYP2F1_chr19_41109432_41133381 | 41116202 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0002a0013 | a0002c0002a0002c0003a0002c0005others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(17): Show | a0002c0002t0001g0063a0002c0002t0002g0002a0002c0002t0002g0003others(101): Show | 114 | 374 | 0.3048 | 1 | c.15d others(3): Show |
p.Thr others(3): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 2/10 | 88/1847 | 16/1476 | 6/491 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DDT_chr22_23966370_23979441 | 23974398 | AGCTCCAG others(10): Show |
A | frameshift_variant others(1): Show |
HIGH | NA18952.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0031 | 1 | 316 | 0.0032 | -17 | c.-1_ others(22): Show |
p.Met others(3): Show |
DDT | ENSG00000099977.16 | transcript | ENST00000398344.9 | protein_coding | 1/3 | 43/565 | 1/357 | 1/118 | chr22 | 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 | ||
DHRS11_chr17_36586879_36605804 | 36600156 | CCA | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(15): Show | 111 | 385 | 0.2883 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | 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 | |||||
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 | ||
DPPA4_chr3_109321144_109342546 | 109337516 | A | G | start_lost | HIGH | HG01081.hp1 HG01175.hp2 HG01884.hp2 others(22): Show |
a0003a0005 | a0003c0004a0003c0006a0003c0010others(1): Show | a0003c0004t0002a0003c0004t0004a0003c0006t0002others(2): Show | a0003c0004t0002g0018a0003c0004t0002g0026a0003c0004t0002g0048others(17): Show | 25 | 416 | 0.0601 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
DPPA4 | ENSG00000121570.13 | transcript | ENST00000335658.7 | protein_coding | 1/7 | 31/2788 | 2/915 | 1/304 | chr3 | 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 | ||
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 |