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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||||||
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 | ||
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 | ||
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 | 122602824 | TTAAGATG others(4052): Show |
T | exon_loss_variant | HIGH | HG00280.hp2 HG00639.hp2 HG00642.hp1 others(42): Show |
a0001a0012a0021others(11): Show | a0001c0001a0001c0004a0001c0027others(16): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(19): Show | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0145others(42): Show | 45 | 282 | 0.1596 | -4059 | c.447 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 37/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMRTC1B_chrX_72771890_72853803 | 72845937 | AG | A | frameshift_variant | HIGH | HG01167.hp1 | a0003 | a0003c0005 | a0003c0005t0021 | a0003c0005t0021g0025 | 1 | 26 | 0.0385 | -1 | c.190 others(4): Show |
p.Val others(4): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 4/7 | 643/1460 | 190/579 | 64/192 | chrX | TogoVar | ||
DMRTC1B_chrX_72771890_72853803 | 72845992 | GC | G | frameshift_variant | HIGH | HG01167.hp1 | a0003 | a0003c0005 | a0003c0005t0021 | a0003c0005t0021g0025 | 1 | 26 | 0.0385 | -1 | c.247 others(4): Show |
p.Leu others(4): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 4/7 | 700/1460 | 247/579 | 83/192 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
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 | ||
DQX1_chr2_74513131_74531231 | 74523438 | G | A | stop_gained | HIGH | HG01167.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0052 | 1 | 356 | 0.0028 | 0 | c.916 others(3): Show |
p.Arg others(4): Show |
DQX1 | ENSG00000144045.14 | transcript | ENST00000404568.4 | protein_coding | 5/12 | 1031/2584 | 916/2154 | 306/717 | chr2 | 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 | ||
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 | ||||||
DZANK1_chr20_18378367_18472030 | 18465378 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG01106.hp1 HG01167.hp2 others(27): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0002a0001c0006t0001a0001c0007t0004others(6): Show | a0001c0001t0002g0026a0001c0001t0002g0261a0001c0001t0002g0334others(23): Show | 30 | 374 | 0.0802 | 0 | c.-19 others(5): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 1/20 | chr20 | TogoVar | ||||||
EBLN1_chr10_22203475_22223015 | 22209341 | C | A | stop_gained | HIGH | HG01167.hp2 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0062 | 1 | 432 | 0.0023 | 0 | c.643 others(3): Show |
p.Glu others(4): Show |
EBLN1 | ENSG00000223601.3 | transcript | ENST00000422359.3 | protein_coding | 3/3 | 911/1777 | 643/1101 | 215/366 | chr10 | TogoVar | ||
EBLN1_chr10_22203475_22223015 | 22209436 | A | C | stop_gained | HIGH | HG01167.hp2 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0062 | 1 | 432 | 0.0023 | 0 | c.548 others(3): Show |
p.Leu others(4): Show |
EBLN1 | ENSG00000223601.3 | transcript | ENST00000422359.3 | protein_coding | 3/3 | 816/1777 | 548/1101 | 183/366 | chr10 | TogoVar | ||
EBLN1_chr10_22203475_22223015 | 22209596 | CAGTGAAG others(7): Show |
C | frameshift_variant | HIGH | HG01167.hp2 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0062 | 1 | 432 | 0.0023 | -14 | c.374 others(21): Show |
p.Leu others(5): Show |
EBLN1 | ENSG00000223601.3 | transcript | ENST00000422359.3 | protein_coding | 3/3 | 655/1777 | 374/1101 | 125/366 | chr10 | TogoVar | ||
EBLN1_chr10_22203475_22223015 | 22209726 | GAATATAA others(7): Show |
G | frameshift_variant | HIGH | HG01167.hp2 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0062 | 1 | 432 | 0.0023 | -14 | c.244 others(21): Show |
p.Leu others(4): Show |
EBLN1 | ENSG00000223601.3 | transcript | ENST00000422359.3 | protein_coding | 3/3 | 525/1777 | 244/1101 | 82/366 | chr10 | TogoVar | ||
EBLN1_chr10_22203475_22223015 | 22209838 | C | CCAGGTGG others(6): Show |
frameshift_variant | HIGH | HG01167.hp2 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0062 | 1 | 432 | 0.0023 | 13 | c.145 others(20): Show |
p.Gly others(4): Show |
EBLN1 | ENSG00000223601.3 | transcript | ENST00000422359.3 | protein_coding | 3/3 | 413/1777 | 145/1101 | 49/366 | chr10 | TogoVar | ||
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0024others(112): Show | 115 | 290 | 0.3966 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FAM166A_chr9_137238599_137252751 | 137245305 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(68): Show | 418 | 418 | 1.0000 | 0 | c.522 others(5): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002a0002c0002t0002g0018a0002c0005t0001g0006others(7): Show | 126 | 450 | 0.2800 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | TogoVar | ||
FANCM_chr14_45130930_45205890 | 45159080 | TTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show |
a0003a0005a0011others(2): Show | a0003c0002a0005c0004a0011c0014others(2): Show | a0003c0002t0001a0005c0004t0001a0011c0014t0001others(2): Show | a0003c0002t0001g0002a0003c0002t0001g0174a0003c0002t0001g0175others(37): Show | 43 | 238 | 0.1807 | -2 | c.139 others(15): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0167a0002c0003t0001g0169a0002c0003t0001g0170others(107): Show | 114 | 238 | 0.4790 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FCGR2A_chr1_161500457_161524829 | 161506414 | C | T | stop_gained | HIGH | HG01081.hp1 HG01106.hp2 HG01167.hp1 others(10): Show |
a0003a0010 | a0003c0005a0010c0017 | a0003c0005t0001a0003c0005t0007a0003c0005t0011others(1): Show | a0003c0005t0001g0074a0003c0005t0001g0076a0003c0005t0001g0077others(6): Show | 13 | 456 | 0.0285 | 0 | c.187 others(3): Show |
p.Gln others(3): Show |
FCGR2A | ENSG00000143226.16 | transcript | ENST00000271450.12 | protein_coding | 3/7 | 198/2646 | 187/954 | 63/317 | chr1 | TogoVar | ||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0002a0004a0006others(10): Show | a0002c0002a0002c0045a0004c0004others(13): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0018others(16): Show | a0002c0002t0002g0002a0002c0002t0002g0074a0002c0002t0002g0076others(20): Show | 155 | 422 | 0.3673 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | TogoVar | ||
FLT4_chr5_180596506_180654600 | 180614180 | CTGGGGAG others(27): Show |
C | splice_acceptor_variant others(2): Show |
HIGH | HG01167.hp1 HG02109.hp1 HG02809.hp2 others(3): Show |
a0006a0021a0024 | a0006c0014a0006c0033a0021c0034others(1): Show | a0006c0014t0002a0006c0014t0009a0006c0033t0009others(2): Show | a0006c0014t0002g0374a0006c0014t0009g0301a0006c0014t0009g0302others(3): Show | 6 | 388 | 0.0155 | -34 | c.322 others(48): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | ||||||
FMNL2_chr2_152330174_152654826 | 152619552 | G | GCCAC | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(72): Show |
a0002a0004a0008 | a0002c0002a0002c0004a0002c0007others(13): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(32): Show | a0002c0002t0001g0002a0002c0002t0001g0022a0002c0002t0001g0031others(72): Show | 75 | 200 | 0.3750 | 4 | c.167 others(13): Show |
p.Pro others(5): Show |
FMNL2 | ENSG00000157827.20 | transcript | ENST00000288670.14 | protein_coding | 15/26 | 2104/5630 | 1674/3279 | 558/1092 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(3): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(5): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(5): Show | 99 | 326 | 0.3037 | -1 | c.876 others(4): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1468/2486 | 876/1227 | 292/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FOXD4L1_chr2_113493665_113506150 | 113500482 | A | G | stop_lost | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(4): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(6): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(6): Show | 101 | 326 | 0.3098 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1818/2486 | 1226/1227 | 409/408 | chr2 | TogoVar | ||
FOXD4L3_chr9_68297867_68310084 | 68303273 | A | T | stop_gained | HIGH | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0014others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0000a0001c0002t0003g0000a0001c0003t0001g0000others(3): Show | 84 | 175 | 0.4800 | 0 | c.322 others(3): Show |
p.Lys others(4): Show |
FOXD4L3 | ENSG00000187559.6 | transcript | ENST00000342833.4 | protein_coding | 1/1 | 407/2218 | 322/1254 | 108/417 | chr9 | TogoVar | ||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(145): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0007others(74): Show | 148 | 430 | 0.3442 | 0 | c.487 others(3): Show |
p.Gly others(4): Show |
GAB4 | ENSG00000215568.9 | transcript | ENST00000400588.5 | protein_coding | 3/10 | 595/2630 | 487/1725 | 163/574 | chr22 | TogoVar | ||
GARIN2_chr14_67184440_67228940 | 67204765 | C | CT | frameshift_variant | HIGH | HG01081.hp2 HG01106.hp2 HG01167.hp1 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0185a0003c0006t0001g0239a0003c0006t0001g0240others(2): Show | 5 | 332 | 0.0151 | 1 | c.588 others(8): Show |
p.Thr others(5): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 5/8 | 832/1620 | 589/1254 | 197/417 | chr14 | TogoVar | ||
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0016a0018 | a0002c0002a0016c0013a0018c0020 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0013a0002c0002t0003g0034a0002c0002t0003g0035others(67): Show | 82 | 436 | 0.1881 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
GDPD4_chr11_77211558_77306686 | 77243743 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0004a0006c0006others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0042a0003c0003t0001g0055a0003c0003t0001g0073others(79): Show | 84 | 350 | 0.2400 | 1 | c.119 others(5): Show |
p.Ile others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/17 | 1526/2617 | 1191/1563 | 397/520 | chr11 | TogoVar | ||
GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(87): Show |
a0001a0004a0008 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0021others(87): Show | 90 | 210 | 0.4286 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 426 | 448 | 0.9509 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | ||
GSDMB_chr17_39899595_39923635 | 39908216 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0014others(47): Show | 125 | 400 | 0.3125 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
GSTO1_chr10_104249892_104272455 | 104263071 | AGAG | A | frameshift_variant others(3): Show |
HIGH | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(15): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004a0003c0003t0001g0071a0003c0003t0001g0081 | 18 | 378 | 0.0476 | -3 | c.464 others(12): Show |
p.Glu others(5): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 4/6 | 501/813 | 464/726 | 155/241 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
GZMM_chr19_539053_554922 | 549171 | C | T | stop_gained | HIGH | HG01167.hp1 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0049 | 1 | 398 | 0.0025 | 0 | c.598 others(3): Show |
p.Gln others(4): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 4/5 | 617/924 | 598/774 | 200/257 | chr19 | TogoVar | ||
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0004 | a0002c0002a0002c0007a0004c0009 | a0002c0002t0001a0002c0002t0002a0002c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0013others(4): Show | 112 | 332 | 0.3374 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
H2BW2 | ENSG00000101812.15 | transcript | ENST00000675318.3 | protein_coding | 1/4 | 238/870 | 199/447 | 67/148 | chrX | TogoVar | ||
HAVCR1_chr5_157024413_157064116 | 157058920 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01070.hp2 HG01167.hp2 HG01169.hp1 others(4): Show |
a0002a0006a0009 | a0002c0002a0006c0006a0009c0009 | a0002c0002t0001a0006c0006t0003a0009c0009t0001 | a0002c0002t0001g0048a0006c0006t0003g0003a0006c0006t0003g0045others(3): Show | 7 | 352 | 0.0199 | 0 | c.-13 others(5): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0009a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0002g0163a0001c0001t0002g0194a0001c0001t0002g0205others(92): Show | 96 | 368 | 0.2609 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
HLA-B_chr6_31348875_31362179 | 31356366 | G | T | stop_gained | HIGH | HG00438.hp2 HG00621.hp2 HG01074.hp1 others(44): Show |
a0014a0018a0024others(7): Show | a0014c0014a0018c0016a0024c0023others(7): Show | a0014c0014t0010a0014c0014t0036a0018c0016t0006others(9): Show | a0014c0014t0010g0020a0014c0014t0010g0063a0014c0014t0036g0110others(13): Show | 47 | 468 | 0.1004 | 0 | c.420 others(3): Show |
p.Tyr others(4): Show |
HLA-B | ENSG00000234745.14 | transcript | ENST00000412585.7 | protein_coding | 3/8 | 441/1536 | 420/1089 | 140/362 | chr6 | TogoVar | ||
HLA-DPB1_chr6_33070990_33094696 | 33080689 | G | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show |
a0000a0006a0008others(10): Show | a0000c0009a0000c0012a0000c0018others(15): Show | a0000c0009t0006a0000c0009t0018a0000c0012t0006others(18): Show | a0000c0009t0006g0014a0000c0009t0006g0038a0000c0009t0006g0089others(31): Show | 116 | 455 | 0.2550 | 0 | c.118 others(3): Show |
p.Gly others(3): Show |
HLA-DPB1 | ENSG00000223865.11 | transcript | ENST00000418931.7 | protein_coding | 2/6 | 170/3991 | 118/777 | 40/258 | chr6 | TogoVar | ||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | ||
IDI2_chr10_1013910_1030859 | 1019517 | T | A | stop_lost | HIGH | HG00621.hp1 HG01167.hp1 HG01167.hp2 others(24): Show |
a0000 | a0000c0004a0000c0005a0000c0010 | a0000c0004t0001a0000c0004t0008a0000c0005t0001others(2): Show | a0000c0004t0001g0014a0000c0004t0001g0018a0000c0004t0001g0021others(12): Show | 27 | 434 | 0.0622 | 0 | c.684 others(3): Show |
p.Ter others(11): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 5/5 | 749/1356 | 684/684 | 228/227 | chr10 | TogoVar | ||
IFNA10_chr9_21201181_21212143 | 21207038 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(9): Show | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(13): Show | a0002c0002t0002g0000a0002c0002t0012g0000a0002c0002t0013g0000others(13): Show | 194 | 457 | 0.4245 | 0 | c.60T others(2): Show |
p.Cys others(3): Show |
IFNA10 | ENSG00000186803.3 | transcript | ENST00000357374.2 | protein_coding | 1/1 | 106/963 | 60/570 | 20/189 | chr9 | TogoVar | ||
IQCA1L_chr7_151185873_151210496 | 151195597 | TC | T | frameshift_variant | HIGH | HG00408.hp2 HG00621.hp1 HG00639.hp2 others(129): Show |
a0002a0005a0008others(8): Show | a0002c0003a0002c0012a0002c0015others(26): Show | a0002c0003t0001a0002c0012t0001a0002c0015t0001others(26): Show | a0002c0003t0001g0007a0002c0003t0001g0023a0002c0003t0001g0026others(80): Show | 132 | 448 | 0.2946 | -1 | c.137 others(5): Show |
p.Glu others(5): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 11/19 | 1417/2606 | 1375/2457 | 459/818 | chr7 | TogoVar | ||
ISCA2_chr14_74488765_74502106 | 74494273 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG01167.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0010 | 1 | 432 | 0.0023 | 0 | c.175 others(5): Show |
ISCA2 | ENSG00000165898.14 | transcript | ENST00000556816.6 | protein_coding | 2/3 | chr14 | TogoVar | ||||||
ISCA2_chr14_74488765_74502106 | 74494274 | G | T | splice_acceptor_variant others(1): Show |
HIGH | HG01167.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0010 | 1 | 432 | 0.0023 | 0 | c.175 others(5): Show |
ISCA2 | ENSG00000165898.14 | transcript | ENST00000556816.6 | protein_coding | 2/3 | chr14 | TogoVar |