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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DSP_chr6_7536671_7591714 | 7541915 | C | CA | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0011a0001c0014others(22): Show | a0001c0007t0001a0001c0011t0001a0001c0014t0001others(24): Show | a0001c0007t0001g0046a0001c0007t0001g0049a0001c0007t0001g0162others(104): Show | 112 | 396 | 0.2828 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/24 | 247/9697 | 2/8616 | 1/2871 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0285a0001c0001t0001g0293a0001c0001t0001g0333others(196): Show | 213 | 374 | 0.5695 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005a0006 | a0002c0002a0002c0009a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0009g0000others(8): Show | 114 | 428 | 0.2664 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
ERV3-1_chr7_64985356_65011687 | 64992360 | G | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show |
a0003a0013 | a0003c0003a0013c0019 | a0003c0003t0001a0013c0019t0001 | a0003c0003t0001g0003a0003c0003t0001g0015a0003c0003t0001g0021others(12): Show | 63 | 458 | 0.1376 | 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 | ||
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 | ||||||
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 | a0002c0003t0001g0003a0002c0003t0001g0015a0002c0003t0001g0017others(4): Show | 87 | 436 | 0.1995 | 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 | ||
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 | |||||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0122others(274): Show | 279 | 370 | 0.7541 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | 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 | ||
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(195): Show | 349 | 366 | 0.9536 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1480/5215 | 1414/1608 | 472/535 | chr1 | TogoVar | ||
FMO2_chr1_171180300_171217686 | 171209118 | C | CT | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show |
a0002a0004 | a0002c0002a0002c0019a0004c0009 | a0002c0002t0004a0002c0002t0005a0002c0002t0025others(2): Show | a0002c0002t0004g0004a0002c0002t0004g0008a0002c0002t0004g0009others(40): Show | 81 | 366 | 0.2213 | 1 | c.158 others(5): Show |
p.Cys others(5): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1655/5215 | 1589/1608 | 530/535 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(24): Show | 336 | 384 | 0.8750 | -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 | |
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 | ||
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0000 | a0000c0002a0000c0006a0000c0016others(5): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0009others(9): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0009g0000others(9): Show | 108 | 452 | 0.2389 | 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 | ||
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 | ||
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 | ||
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 | a0002c0003t0001g0009a0002c0003t0001g0014a0002c0003t0001g0019others(58): Show | 87 | 436 | 0.1995 | -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 |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002 | a0000c0002t0001g0002a0000c0002t0001g0005a0000c0002t0002g0002others(1): Show | 101 | 446 | 0.2265 | 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(213): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0018a0001c0029others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(50): Show | 216 | 396 | 0.5455 | 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(284): Show |
a0000a0001a0003others(22): Show | a0000c0051a0001c0001a0001c0003others(52): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(65): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(92): Show | 287 | 396 | 0.7248 | 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(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -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 |
a0001a0006a0010others(13): Show | a0001c0001a0001c0005a0001c0019others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(49): Show | 94 | 214 | 0.4393 | 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 | ||
GP6_chr19_55008705_55043264 | 55014735 | G | GCAGA | frameshift_variant | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(55): Show |
a0003a0019 | a0003c0003a0003c0016a0003c0019others(1): Show | a0003c0003t0003a0003c0016t0003a0003c0019t0003others(1): Show | a0003c0003t0003g0003a0003c0003t0003g0004a0003c0003t0003g0019others(53): Show | 58 | 441 | 0.1315 | 4 | c.120 others(13): Show |
p.Pro others(5): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 8/8 | 1237/2268 | 1209/1863 | 403/620 | chr19 | 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 | ||
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 | a0001c0001t0001g0052a0001c0001t0001g0118a0001c0001t0001g0120others(106): Show | 110 | 374 | 0.2941 | 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 |
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 | ||
HLA-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0003a0003c0002a0005c0008others(21): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(22): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(76): Show | 131 | 208 | 0.6298 | 0 | c.115 others(3): Show |
p.Gln others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 221/1223 | 115/801 | 39/266 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584366 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0003a0003c0002a0005c0008others(22): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(23): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(77): Show | 136 | 208 | 0.6539 | 0 | c.113 others(3): Show |
p.Trp others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 219/1223 | 113/801 | 38/266 | chr6 | TogoVar | ||
HMG20B_chr19_3567944_3584083 | 3578053 | A | AC | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp1 HG01496.hp1 others(11): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0004 | a0000c0002t0001g0001a0000c0002t0001g0002a0000c0002t0001g0003others(10): Show | 14 | 406 | 0.0345 | 1 | c.885 others(4): Show |
p.Ala others(5): Show |
HMG20B | ENSG00000064961.19 | transcript | ENST00000333651.11 | protein_coding | 9/10 | 955/1585 | 886/954 | 296/317 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
HP_chr16_72049505_72066055 | 72056410 | GGCTTCTA others(1717): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show |
a0002 | a0002c0002a0002c0006a0002c0018 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0018a0002c0002t0001g0023others(6): Show | 105 | 425 | 0.2471 | -1724 | c.191 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 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 | ||
HSD17B13_chr4_87298794_87327882 | 87310240 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show |
a0001a0006a0007 | a0001c0001a0006c0008a0007c0010 | a0001c0001t0001a0001c0001t0002a0006c0008t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(71): Show | 96 | 442 | 0.2172 | 1 | c.812 others(6): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 40015416 | T | A | stop_gained | HIGH | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0002a0003c0003t0003a0003c0003t0010others(14): Show | a0003c0003t0002g0014a0003c0003t0002g0015a0003c0003t0002g0021others(102): Show | 106 | 360 | 0.2944 | 0 | c.103 others(4): Show |
p.Tyr others(4): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 11/11 | 1623/2599 | 1038/1224 | 346/407 | chr8 | TogoVar | ||
IFIH1_chr2_162262074_162323684 | 162268086 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18994.hp1 NA19074.hp1 NA19080.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0047a0003c0002t0001g0116a0003c0002t0001g0168 | 3 | 220 | 0.0136 | 0 | c.280 others(6): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 14/15 | chr2 | 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 | ||
IFNE_chr9_21475839_21487313 | 21481484 | G | A | stop_gained | HIGH | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 61 | 450 | 0.1356 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
IFNE | ENSG00000184995.7 | transcript | ENST00000448696.4 | protein_coding | 1/1 | 830/1475 | 211/627 | 71/208 | chr9 | TogoVar | ||
IPO7_chr11_9379652_9453127 | 9438045 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00673.hp1 HG01192.hp2 HG01346.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(17): Show | 20 | 314 | 0.0637 | 1 | c.249 others(7): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JSRP1_chr19_2247252_2261417 | 2255312 | C | G | start_lost | HIGH | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
a0003a0004a0008others(1): Show | a0003c0003a0003c0010a0003c0011others(4): Show | a0003c0003t0001a0003c0010t0001a0003c0011t0001others(4): Show | a0003c0003t0001g0006a0003c0003t0001g0007a0003c0003t0001g0011others(23): Show | 114 | 436 | 0.2615 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2/7 | 68/1138 | 3/996 | 1/331 | chr19 | 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(35): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0022others(106): Show | 111 | 390 | 0.2846 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(323): Show | 335 | 375 | 0.8933 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
KISS1_chr1_204185341_204201491 | 204190483 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(118): Show |
a0000 | a0000c0002 | a0000c0002t0002a0000c0002t0004a0000c0002t0008others(1): Show | a0000c0002t0002g0001a0000c0002t0002g0008a0000c0002t0002g0020others(31): Show | 121 | 400 | 0.3025 | -1 | c.417 others(4): Show |
p.Ter others(5): Show |
KISS1 | ENSG00000170498.10 | transcript | ENST00000367194.5 | protein_coding | 3/3 | 571/714 | 417/417 | 139/138 | chr1 | TogoVar | ||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0009a0001c0025others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(137): Show | 282 | 414 | 0.6812 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show |
a0001a0010a0012 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0011others(54): Show | 204 | 424 | 0.4811 | -1 | c.666 others(4): Show |
p.Asn others(5): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/8 | 725/1883 | 666/1578 | 222/525 | chr17 | TogoVar | ||
KRT37_chr17_41415547_41429585 | 41422807 | G | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show |
a0002a0008 | a0002c0002a0002c0020a0008c0009 | a0002c0002t0002a0002c0020t0002a0008c0009t0002 | a0002c0002t0002g0002a0002c0002t0002g0013a0002c0002t0002g0036others(2): Show | 102 | 409 | 0.2494 | 0 | c.703 others(3): Show |
p.Gln others(4): Show |
KRT37 | ENSG00000108417.4 | transcript | ENST00000225550.4 | protein_coding | 3/7 | 765/1743 | 703/1350 | 235/449 | chr17 | TogoVar | ||
KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(233): Show |
a0001a0003a0007others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(12): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000others(12): Show | 236 | 416 | 0.5673 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 59/1162 | 1/558 | 1/185 | chr17 | TogoVar | ||
KRTAP9-1_chr17_41184887_41195639 | 41189887 | A | G | start_lost | HIGH | HG00280.hp1 HG00642.hp1 HG00735.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 43 | 460 | 0.0935 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 1/1 | 1/753 | 1/753 | 1/250 | chr17 | TogoVar | ||
KRTAP9-6_chr17_41260378_41270860 | 41265460 | TTGTGACC others(5393): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0000 | a0000c0001 | a0000c0001t0000 | a0000c0001t0000g0000 | 141 | 248 | 0.5686 | -5400 | c.84_ others(8): Show |
p.Ile others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 84/483 | 84/483 | 28/160 | chr17 | TogoVar | ||
LBP_chr20_38341482_38382013 | 38366790 | C | T | stop_gained | HIGH | NA19074.hp2 | a0013 | a0013c0037 | a0013c0037t0001 | a0013c0037t0001g0015 | 1 | 394 | 0.0025 | 0 | c.943 others(3): Show |
p.Arg others(4): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 9/15 | 978/1825 | 943/1446 | 315/481 | chr20 | TogoVar | ||
LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(189): Show |
a0002a0003a0004others(34): Show | a0002c0002a0002c0027a0002c0028others(40): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(71): Show | a0002c0002t0003g0002a0002c0002t0003g0043a0002c0002t0003g0140others(97): Show | 192 | 450 | 0.4267 | 0 | c.104 others(4): Show |
p.Gln others(4): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1087/3848 | 1048/1446 | 350/481 | chr19 | TogoVar |