view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show |
111 | 384 | 0.2891 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | 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 | a0001c0009t0001g0024 a0002c0002t0001g0230 a0003c0003t0001g0021 others(54): Show |
66 | 318 | 0.2075 | -7 | c.-20 others(20): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
DLL3_chr19_39493947_39513469 | 39505294 | C | CG | frameshift_variant | HIGH | HG02056.hp1 NA18949.hp2 NA18960.hp1 others(6): Show |
a0005a0010 | a0005c0005a0010c0016 | a0005c0005t0001a0010c0016t0001 | a0005c0005t0001g0002 a0005c0005t0001g0020 a0005c0005t0001g0032 others(4): Show |
9 | 426 | 0.0211 | 1 | c.940 others(4): Show |
p.Val others(5): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 6/9 | 969/2004 | 941/1764 | 314/587 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122601776 | CGTTCTTG others(16213): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 HG01192.hp2 HG02027.hp1 others(24): Show |
a0004a0013a0035others(2): Show | a0004c0005a0004c0028a0013c0015others(3): Show | a0004c0005t0001a0004c0028t0002a0013c0015t0001others(3): Show | a0004c0005t0001g0002 a0004c0005t0001g0003 a0004c0005t0001g0026 others(16): Show |
27 | 280 | 0.0964 | -16220 | c.335 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3373/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122613317 | CGTGGGAG others(4053): Show |
C | exon_loss_variant | HIGH | NA18955.hp1 NA18957.hp2 NA18964.hp2 others(2): Show |
a0012 | a0012c0014a0012c0047 | a0012c0014t0002a0012c0047t0001 | a0012c0014t0002g0189 a0012c0014t0002g0190 a0012c0014t0002g0191 others(2): Show |
5 | 280 | 0.0179 | -4060 | c.450 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 38/56 | 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 |
a0006a0007a0011others(81): Show | a0006c0214a0006c0262a0006c0266others(98): Show | a0006c0214t0006a0006c0262t0001a0006c0266t0005others(99): Show | a0006c0214t0006g0174 a0006c0262t0001g0139 a0006c0266t0005g0137 others(104): Show |
107 | 296 | 0.3615 | 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 | |||
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(160): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(16): Show |
163 | 402 | 0.4055 | -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 | |||
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(111): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(111): Show |
114 | 288 | 0.3958 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELOA2_chr18_47027527_47040621 | 47033546 | GTCTT | G | frameshift_variant | HIGH | NA18945.hp2 NA18954.hp1 NA18978.hp2 others(3): Show |
a0008 | a0008c0006 | a0008c0006t0004 | a0008c0006t0004g0000 | 6 | 446 | 0.0135 | -4 | c.171 others(13): Show |
p.Lys others(5): Show |
ELOA2 | ENSG00000206181.7 | transcript | ENST00000332567.6 | protein_coding | 1/1 | 2075/3095 | 1715/2262 | 572/753 | chr18 | TogoVar | |||
EPB41L4A_chr5_112157619_112424277 | 112165119 | C | CTAAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(218): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 others(216): Show |
221 | 226 | 0.9779 | 5 | c.193 others(18): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 22/22 | chr5 | TogoVar | |||||||
ERV3-1_chr7_64985356_65011687 | 64992360 | G | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show |
a0003a0008 | a0003c0003a0008c0019 | a0003c0003t0001a0008c0019t0001 | a0003c0003t0001g0003 a0003c0003t0001g0015 a0003c0003t0001g0021 others(12): Show |
63 | 456 | 0.1382 | 0 | c.667 others(3): Show |
p.Arg others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | 1202/3206 | 667/1815 | 223/604 | chr7 | TogoVar | |||
FAM166B_chr9_35556831_35568878 | 35562396 | A | ATAGT | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show |
a0002a0003 | a0002c0003a0003c0004a0003c0005 | a0002c0003t0001a0002c0003t0002a0003c0004t0001others(1): Show | a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 others(4): Show |
87 | 434 | 0.2005 | 4 | c.719 others(11): Show |
p.Tyr others(5): Show |
FAM166B | ENSG00000215187.13 | transcript | ENST00000399742.7 | protein_coding | 5/6 | 772/1054 | 722/828 | 241/275 | 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 | a0002c0002t0001g0002 a0002c0002t0002g0018 a0002c0005t0001g0006 others(7): Show |
126 | 448 | 0.2813 | 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 | |||
FAM86B1_chr8_12177106_12199082 | 12189807 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp1 HG00558.hp2 others(51): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0015others(4): Show | a0001c0001t0002a0001c0005t0002a0001c0005t0011others(7): Show | a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 others(38): Show |
54 | 174 | 0.3103 | 0 | c.240 others(5): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
FAM90A10_chr8_7763977_7776988 | 7770362 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(41): Show |
a0003a0005a0009others(16): Show | a0003c0003a0005c0005a0009c0021others(18): Show | a0003c0003t0001a0005c0005t0001a0009c0021t0001others(18): Show | a0003c0003t0001g0001 a0003c0003t0001g0027 a0005c0005t0001g0004 others(19): Show |
44 | 126 | 0.3492 | 0 | c.432 others(5): Show |
FAM90A10 | ENSG00000285950.1 | transcript | ENST00000533716.2 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FAM90A8_chr8_7733387_7746396 | 7739771 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(69): Show |
a0001a0003a0004others(28): Show | a0001c0001a0003c0003a0003c0006others(29): Show | a0001c0001t0001a0003c0003t0001a0003c0006t0001others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0016 others(53): Show |
72 | 108 | 0.6667 | 0 | c.432 others(5): Show |
FAM90A8 | ENSG00000285937.1 | transcript | ENST00000647775.1 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132570140 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG01175.hp1 HG01978.hp1 others(8): Show |
a0005a0020a0046 | a0005c0031a0005c0032a0005c0051others(5): Show | a0005c0031t0002a0005c0031t0022a0005c0032t0001others(7): Show | a0005c0031t0002g0255 a0005c0031t0022g0064 a0005c0032t0001g0020 others(8): Show |
11 | 346 | 0.0318 | 1 | c.911 others(4): Show |
p.Gln others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 7/19 | 1332/4839 | 912/3009 | 304/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
FBRSL1_chr12_132485151_132590188 | 132583374 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG01109.hp2 others(30): Show |
a0005a0007a0013others(9): Show | a0005c0052a0005c0054a0007c0022others(17): Show | a0005c0052t0005a0005c0054t0001a0007c0022t0002others(23): Show | a0005c0052t0005g0090 a0005c0054t0001g0069 a0007c0022t0002g0115 others(30): Show |
33 | 346 | 0.0954 | 1 | c.261 others(5): Show |
p.Ala others(5): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 19/19 | 3031/4839 | 2611/3009 | 871/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
FBXL8_chr16_67154957_67169174 | 67161939 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00408.hp1 HG00438.hp1 HG01256.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 13 | 242 | 0.0537 | 0 | c.152 others(5): Show |
FBXL8 | ENSG00000135722.9 | transcript | ENST00000258200.8 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(275): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0122 others(271): Show |
278 | 365 | 0.7616 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(332): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show |
335 | 382 | 0.8770 | -2 | c.320 others(9): Show |
p.Tyr others(5): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 3/5 | 370/849 | 320/738 | 107/245 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0002a0007a0009 | a0002c0002a0002c0005a0002c0010others(3): Show | a0002c0002t0002a0002c0002t0015a0002c0002t0016others(5): Show | a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(5): Show |
99 | 324 | 0.3056 | -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 |
a0002a0006a0007others(1): Show | a0002c0002a0002c0005a0002c0010others(4): Show | a0002c0002t0002a0002c0002t0015a0002c0002t0016others(6): Show | a0002c0002t0002g0000 a0002c0002t0015g0000 a0002c0002t0016g0000 others(6): Show |
101 | 324 | 0.3117 | 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 | |||
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0002a0005a0022others(2): Show | a0002c0002a0002c0016a0002c0040others(5): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0011others(9): Show | a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0011g0000 others(9): Show |
108 | 450 | 0.2400 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | |||
FTHL17_chrX_31066233_31077041 | 31071512 | C | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG02165.hp2 others(34): Show |
a0002a0004a0006 | a0002c0003a0002c0004a0004c0007others(1): Show | a0002c0003t0001a0002c0004t0001a0004c0007t0001others(1): Show | a0002c0003t0001g0000 a0002c0004t0001g0000 a0004c0007t0001g0000 others(1): Show |
37 | 334 | 0.1108 | 0 | c.442 others(3): Show |
p.Glu others(4): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 1/1 | 530/809 | 442/552 | 148/183 | chrX | TogoVar | |||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(144): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show |
147 | 428 | 0.3435 | 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 | |||
GEN1_chr2_17749138_17793946 | 17781726 | CAAGTT | C | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(27): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0023a0004c0004t0036 | a0004c0004t0001g0005 a0004c0004t0001g0012 a0004c0004t0001g0040 others(14): Show |
30 | 318 | 0.0943 | -5 | c.251 others(14): Show |
p.Lys others(5): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 14/14 | 2738/9957 | 2515/2727 | 839/908 | chr2 | TogoVar | |||
GLT6D1_chr9_135618648_135644540 | 135624500 | CA | C | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0004a0002c0007others(5): Show | a0002c0003t0001a0002c0004t0003a0002c0004t0007others(7): Show | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0032 others(50): Show |
87 | 434 | 0.2005 | -1 | c.427 others(4): Show |
p.Trp others(5): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 5/5 | 681/1534 | 427/831 | 143/276 | chr9 | TogoVar | |||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0002g0002 others(1): Show |
101 | 443 | 0.2280 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(212): Show |
a0001a0006a0015others(8): Show | a0001c0001a0001c0014a0001c0023others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(43): Show |
215 | 306 | 0.7026 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001a0003a0006others(19): Show | a0001c0001a0001c0005a0001c0010others(44): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(82): Show |
286 | 393 | 0.7277 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0010others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(82): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(119): Show |
390 | 394 | 0.9898 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | |||
GOLGA6L6_chr15_20526856_20546800 | 20535014 | C | A | stop_gained | HIGH | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show |
a0001a0007a0010others(10): Show | a0001c0001a0001c0010a0001c0031others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(47): Show |
94 | 212 | 0.4434 | 0 | c.142 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1511/4013 | 1420/2175 | 474/724 | chr15 | TogoVar | |||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
425 | 446 | 0.9529 | 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 | |||
GUCA1C_chr3_108902792_108958879 | 108916126 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 others(106): Show |
110 | 372 | 0.2957 | 0 | c.442 others(5): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0008 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 others(4): Show |
112 | 330 | 0.3394 | 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 | |||
HIBCH_chr2_190198920_190324826 | 190319749 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(100): Show |
a0003 | a0003c0003a0003c0004a0003c0009 | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(8): Show | a0003c0003t0002g0179 a0003c0003t0002g0195 a0003c0003t0002g0197 others(97): Show |
103 | 366 | 0.2814 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | 78/2434 | 2/1161 | 1/386 | chr2 | TogoVar | |||
HLA-DPB1_chr6_33070990_33094696 | 33080689 | G | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show |
a0006a0007a0009others(13): Show | a0006c0008a0006c0010a0006c0037others(15): Show | a0006c0008t0003a0006c0008t0012a0006c0010t0003others(18): Show | a0006c0008t0003g0009 a0006c0008t0003g0013 a0006c0008t0003g0070 others(31): Show |
116 | 454 | 0.2555 | 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 | |||
HLA-DQB1_chr6_32654467_32671657 | 32664861 | C | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show |
a0005a0009a0010others(2): Show | a0005c0006a0005c0019a0009c0010others(3): Show | a0005c0006t0004a0005c0019t0004a0009c0010t0001others(6): Show | a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 others(15): Show |
102 | 400 | 0.2550 | 0 | c.316 others(3): Show |
p.Glu others(4): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/5 | 366/1605 | 316/786 | 106/261 | chr6 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(158): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0012others(160): Show | a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 others(169): Show |
381 | 415 | 0.9181 | -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 | |||
HSD17B13_chr4_87298794_87327882 | 87310240 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show |
a0001a0006a0009 | a0001c0001a0006c0008a0009c0010 | a0001c0001t0001a0001c0001t0002a0006c0008t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(70): Show |
96 | 440 | 0.2182 | 1 | c.812 others(6): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | 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 | a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show |
194 | 456 | 0.4254 | 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 | |||
IL17RB_chr3_53841568_53870794 | 53865249 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(51): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001a0002c0007t0006others(1): Show | a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0005t0001g0028 others(33): Show |
54 | 448 | 0.1205 | 0 | c.145 others(4): Show |
p.Gln others(4): Show |
IL17RB | ENSG00000056736.10 | transcript | ENST00000288167.8 | protein_coding | 11/11 | 1471/2016 | 1450/1509 | 484/502 | chr3 | 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 | a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 others(80): Show |
132 | 446 | 0.2960 | -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 | |||
IRS2_chr13_109747695_109791583 | 109782805 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00673.hp2 HG00741.hp1 others(24): Show |
a0003a0004 | a0003c0008a0003c0010a0003c0012others(2): Show | a0003c0008t0002a0003c0008t0004a0003c0008t0009others(11): Show | a0003c0008t0002g0129 a0003c0008t0002g0130 a0003c0008t0002g0132 others(24): Show |
27 | 396 | 0.0682 | 1 | c.324 others(5): Show |
p.Pro others(6): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/2 | 3778/8156 | 3248/4017 | 1083/1338 | chr13 | TogoVar | |||
KCNC3_chr19_50306937_50334377 | 50323201 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp2 HG01109.hp1 others(11): Show |
a0001a0013 | a0001c0001a0001c0002a0013c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0010 others(10): Show |
14 | 378 | 0.0370 | 1 | c.175 others(5): Show |
p.Pro others(5): Show |
KCNC3 | ENSG00000131398.15 | transcript | ENST00000477616.2 | protein_coding | 2/5 | 2046/6747 | 1751/2274 | 584/757 | chr19 | TogoVar | |||
KDM4A_chr1_43645149_43710518 | 43660291 | CA | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(167): Show |
191 | 368 | 0.5190 | -1 | c.315 others(6): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KDM6B_chr17_7829217_7859796 | 7849177 | C | CG | frameshift_variant | HIGH | HG04115.hp2 HG04204.hp1 HG04204.hp2 others(4): Show |
a0005a0015a0032others(1): Show | a0005c0049a0005c0061a0015c0027others(3): Show | a0005c0049t0001a0005c0061t0002a0015c0027t0002others(3): Show | a0005c0049t0001g0275 a0005c0061t0002g0163 a0015c0027t0002g0153 others(4): Show |
7 | 386 | 0.0181 | 1 | c.289 others(5): Show |
p.Val others(5): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 12/24 | 3415/6728 | 2894/4932 | 965/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KIAA0513_chr16_85022795_85099218 | 85071765 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(34): Show | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0240 others(103): Show |
111 | 385 | 0.2883 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KIR3DL1_chr19_54811468_54835778 | 54819784 | C | T | stop_gained | HIGH | NA19010.hp2 | a0027 | a0027c0027 | a0027c0027t0001 | a0027c0027t0001g0001 | 1 | 394 | 0.0025 | 0 | c.427 others(3): Show |
p.Gln others(4): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 4/9 | 460/1871 | 427/1335 | 143/444 | chr19 | TogoVar |