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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FBXL18_chr7_5470797_5518809 | 5500960 | C | CG | frameshift_variant | HIGH | HG00544.hp2 HG00735.hp1 HG00738.hp1 others(36): Show |
a0002a0004a0005others(1): Show | a0002c0004a0002c0006a0002c0017others(3): Show | a0002c0004t0001a0002c0004t0002a0002c0004t0005others(26): Show | a0002c0004t0001g0007a0002c0004t0001g0144a0002c0004t0001g0148others(36): Show | 39 | 338 | 0.1154 | 1 | c.130 others(5): Show |
p.Ala others(5): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 3/5 | 1443/8270 | 1308/2157 | 436/718 | chr7 | TogoVar | ||
FCN3_chr1_27364110_27379824 | 27373179 | AG | A | frameshift_variant | HIGH | HG01074.hp1 HG01192.hp1 HG02109.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046a0002c0002t0001g0100a0002c0002t0001g0101others(2): Show | 6 | 404 | 0.0149 | -1 | c.349 others(4): Show |
p.Leu others(5): Show |
FCN3 | ENSG00000142748.14 | transcript | ENST00000270879.9 | protein_coding | 5/8 | 355/1032 | 349/900 | 117/299 | chr1 | 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 | ||
FLG_chr1_152297165_152330239 | 152304352 | G | A | stop_gained | HIGH | HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show |
a0006a0010a0012others(22): Show | a0006c0006a0006c0136a0010c0010others(25): Show | a0006c0006t0001a0006c0136t0001a0010c0010t0001others(25): Show | a0006c0006t0001g0003a0006c0136t0001g0124a0010c0010t0001g0026others(32): Show | 58 | 426 | 0.1362 | 0 | c.105 others(5): Show |
p.Gln others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10606/12793 | 10534/12186 | 3512/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152304887 | C | T | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0010a0012a0019others(16): Show | a0010c0010a0012c0012a0012c0063others(18): Show | a0010c0010t0001a0012c0012t0002a0012c0063t0002others(18): Show | a0010c0010t0001g0026a0010c0010t0001g0063a0010c0010t0001g0138others(25): Show | 37 | 426 | 0.0869 | 0 | c.999 others(4): Show |
p.Trp others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10071/12793 | 9999/12186 | 3333/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305571 | G | C | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0010a0012a0019others(16): Show | a0010c0010a0012c0012a0012c0063others(18): Show | a0010c0010t0001a0012c0012t0002a0012c0063t0002others(18): Show | a0010c0010t0001g0026a0010c0010t0001g0063a0010c0010t0001g0138others(25): Show | 37 | 426 | 0.0869 | 0 | c.931 others(4): Show |
p.Tyr others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9387/12793 | 9315/12186 | 3105/4061 | chr1 | TogoVar | ||
FLG_chr1_152297165_152330239 | 152305861 | G | A | stop_gained | HIGH | HG01433.hp2 HG01884.hp2 HG02109.hp1 others(34): Show |
a0010a0012a0019others(16): Show | a0010c0010a0012c0012a0012c0063others(18): Show | a0010c0010t0001a0012c0012t0002a0012c0063t0002others(18): Show | a0010c0010t0001g0026a0010c0010t0001g0063a0010c0010t0001g0138others(25): Show | 37 | 426 | 0.0869 | 0 | c.902 others(4): Show |
p.Arg others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9097/12793 | 9025/12186 | 3009/4061 | 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 | |
FMO2_chr1_171180300_171217686 | 171196663 | TG | T | frameshift_variant | HIGH | HG01123.hp1 HG01192.hp1 HG01243.hp1 others(21): Show |
a0006 | a0006c0006 | a0006c0006t0006a0006c0006t0011a0006c0006t0016 | a0006c0006t0006g0007a0006c0006t0006g0036a0006c0006t0006g0112others(13): Show | 24 | 366 | 0.0656 | -1 | c.337 others(4): Show |
p.Val others(5): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 4/9 | 403/5215 | 337/1608 | 113/535 | 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 | ||
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 | |
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 | ||
FUT2_chr19_48690971_48710951 | 48703417 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show |
a0002 | a0002c0002a0002c0008a0002c0022 | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(13): Show | a0002c0002t0003g0004a0002c0002t0003g0008a0002c0002t0003g0017others(51): Show | 91 | 394 | 0.2310 | 0 | c.461 others(3): Show |
p.Trp others(4): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | 582/3116 | 461/1032 | 154/343 | chr19 | 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 | |||||
GMIP_chr19_19624476_19648657 | 19633908 | C | CG | frameshift_variant | HIGH | HG01175.hp1 HG01934.hp2 HG02074.hp2 others(9): Show |
a0002a0004 | a0002c0009a0004c0004 | a0002c0009t0001a0002c0009t0002a0004c0004t0001others(1): Show | a0002c0009t0001g0061a0002c0009t0002g0159a0004c0004t0001g0049others(9): Show | 12 | 416 | 0.0289 | 1 | c.236 others(5): Show |
p.His others(5): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 19/21 | 2494/3528 | 2366/2913 | 789/970 | chr19 | TogoVar | ||
GOLGA6A_chr15_74064857_74087550 | 74082504 | C | T | stop_gained | HIGH | HG01884.hp2 HG02109.hp2 |
a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0002 | 2 | 137 | 0.0146 | 0 | c.6G> others(1): Show |
p.Trp others(2): Show |
GOLGA6A | ENSG00000159289.6 | transcript | ENST00000290438.3 | protein_coding | 1/18 | 47/3176 | 6/2082 | 2/693 | chr15 | 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 | 23440306 | TTCTGCTC others(4): Show |
T | frameshift_variant | HIGH | HG02109.hp2 | a0006 | a0006c0032 | a0006c0032t0010 | a0006c0032t0010g0129 | 1 | 396 | 0.0025 | -11 | c.215 others(20): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2230/3499 | 2158/2730 | 720/909 | 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 | ||
GOLGA6L2_chr15_23434038_23452243 | 23444055 | G | A | stop_gained | HIGH | HG02109.hp2 HG02572.hp2 HG03486.hp2 others(1): Show |
a0006 | a0006c0020a0006c0031a0006c0032 | a0006c0020t0010a0006c0031t0010a0006c0032t0010 | a0006c0020t0010g0045a0006c0031t0010g0130a0006c0032t0010g0129 | 4 | 396 | 0.0101 | 0 | c.313 others(3): Show |
p.Arg others(4): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 5/8 | 375/3499 | 313/2730 | 105/909 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534688 | C | T | stop_gained | HIGH | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0007a0020 | a0007c0006a0020c0022 | a0007c0006t0006a0020c0022t0006 | a0007c0006t0006g0009a0007c0006t0006g0016a0007c0006t0006g0029others(1): Show | 9 | 214 | 0.0421 | 0 | c.174 others(4): Show |
p.Trp others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1837/4013 | 1746/2175 | 582/724 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534689 | C | T | stop_gained | HIGH | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0007a0020 | a0007c0006a0020c0022 | a0007c0006t0006a0020c0022t0006 | a0007c0006t0006g0009a0007c0006t0006g0016a0007c0006t0006g0029others(1): Show | 9 | 214 | 0.0421 | 0 | c.174 others(4): Show |
p.Trp others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1836/4013 | 1745/2175 | 582/724 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534711 | G | A | stop_gained | HIGH | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0007a0020 | a0007c0006a0020c0022 | a0007c0006t0006a0020c0022t0006 | a0007c0006t0006g0009a0007c0006t0006g0016a0007c0006t0006g0029others(1): Show | 9 | 214 | 0.0421 | 0 | c.172 others(4): Show |
p.Gln others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1814/4013 | 1723/2175 | 575/724 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534752 | C | T | stop_gained | HIGH | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0007a0020 | a0007c0006a0020c0022 | a0007c0006t0006a0020c0022t0006 | a0007c0006t0006g0009a0007c0006t0006g0016a0007c0006t0006g0029others(1): Show | 9 | 214 | 0.0421 | 0 | c.168 others(4): Show |
p.Trp others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1773/4013 | 1682/2175 | 561/724 | chr15 | 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 | ||
GPRC6A_chr6_116787085_116834083 | 116792598 | A | AGGT | stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show |
a0003a0005a0015others(1): Show | a0003c0003a0005c0005a0005c0015others(3): Show | a0003c0003t0001a0005c0005t0001a0005c0015t0001others(3): Show | a0003c0003t0001g0006a0003c0003t0001g0008a0003c0003t0001g0011others(35): Show | 60 | 368 | 0.1630 | 3 | c.232 others(12): Show |
p.Tyr others(15): Show |
GPRC6A | ENSG00000173612.10 | transcript | ENST00000310357.8 | protein_coding | 6/6 | 2394/2908 | 2324/2781 | 775/926 | chr6 | 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 | ||||||
HIBCH_chr2_190198920_190324826 | 190319749 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(101): Show |
a0003a0004 | a0003c0003a0003c0009a0004c0004 | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(8): Show | a0003c0003t0002g0194a0003c0003t0002g0198a0003c0003t0002g0202others(99): Show | 104 | 368 | 0.2826 | 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-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-B_chr6_31348875_31362179 | 31356751 | G | A | stop_gained | HIGH | HG00140.hp1 HG00741.hp1 HG01361.hp2 others(22): Show |
a0013a0020a0036others(2): Show | a0013c0013a0020c0018a0036c0032others(2): Show | a0013c0013t0006a0020c0018t0013a0036c0032t0013others(2): Show | a0013c0013t0006g0012a0020c0018t0013g0016a0036c0032t0013g0053others(3): Show | 25 | 468 | 0.0534 | 0 | c.280 others(3): Show |
p.Gln others(3): Show |
HLA-B | ENSG00000234745.14 | transcript | ENST00000412585.7 | protein_coding | 2/8 | 301/1536 | 280/1089 | 94/362 | chr6 | TogoVar | ||
HLA-B_chr6_31348875_31362179 | 31356758 | G | C | stop_gained | HIGH | HG00140.hp1 HG00741.hp1 HG01361.hp2 others(22): Show |
a0013a0020a0036others(2): Show | a0013c0013a0020c0018a0036c0032others(2): Show | a0013c0013t0006a0020c0018t0013a0036c0032t0013others(2): Show | a0013c0013t0006g0012a0020c0018t0013g0016a0036c0032t0013g0053others(3): Show | 25 | 468 | 0.0534 | 0 | c.273 others(3): Show |
p.Tyr others(3): Show |
HLA-B | ENSG00000234745.14 | transcript | ENST00000412585.7 | protein_coding | 2/8 | 294/1536 | 273/1089 | 91/362 | chr6 | 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 | ||
HMSD_chr18_63944301_63966835 | 63954437 | AGATGGAG others(9): Show |
A | frameshift_variant | HIGH | HG02109.hp2 HG02622.hp2 HG02895.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0043a0002c0003t0002g0096a0002c0003t0002g0097 | 4 | 404 | 0.0099 | -16 | c.105 others(23): Show |
p.Asp others(4): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 3/4 | 307/2102 | 105/420 | 35/139 | INFO_REALIGN_3_PRIME | chr18 | 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 | ||
HSFX3_chrX_149543210_149554924 | 149548881 | GTC | G | frameshift_variant | HIGH | HG02109.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0010 | 1 | 332 | 0.0030 | -2 | c.511 others(9): Show |
p.Asp others(5): Show |
HSFX3 | ENSG00000283697.3 | transcript | ENST00000431993.4 | protein_coding | 2/2 | 584/1256 | 511/1002 | 171/333 | chrX | TogoVar | ||
HTN3_chr4_70023459_70041538 | 70033205 | T | A | stop_gained | HIGH | HG01109.hp2 HG01243.hp2 HG01891.hp1 others(14): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0006a0002c0003t0002g0013a0002c0003t0002g0031others(1): Show | 17 | 412 | 0.0413 | 0 | c.141 others(3): Show |
p.Tyr others(3): Show |
HTN3 | ENSG00000205649.9 | transcript | ENST00000673563.1 | protein_coding | 5/6 | 212/532 | 141/156 | 47/51 | 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 | ||
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 | ||
IFNA13_chr9_21362372_21373057 | 21368009 | A | G | start_lost | HIGH | HG01884.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0002a0004c0006t0002 | a0002c0002t0002g0000a0004c0006t0002g0000 | 14 | 466 | 0.0300 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
IFNA13 | ENSG00000233816.4 | transcript | ENST00000610660.2 | protein_coding | 1/1 | 49/686 | 2/573 | 1/190 | 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 | ||
IGFL3_chr19_46115067_46129688 | 46119477 | ACTGGAGC others(5571): Show |
A | transcript_ablation | HIGH | HG00280.hp1 HG00544.hp1 HG01074.hp1 others(29): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 32 | 432 | 0.0741 | -5578 | c.-40 others(9): Show |
p.0? | IGFL3 | ENSG00000188624.3 | transcript | ENST00000341415.3 | protein_coding | 2/4 | chr19 | TogoVar | |||||
IGFL4_chr19_46034182_46046002 | 46040269 | TGGAAGCA others(5): Show |
T | stop_gained others(1): Show |
HIGH | HG02109.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0018 | 1 | 454 | 0.0022 | -12 | c.206 others(19): Show |
p.Trp others(17): Show |
IGFL4 | ENSG00000204869.9 | transcript | ENST00000377697.2 | protein_coding | 3/4 | 257/1125 | 206/375 | 69/124 | chr19 | TogoVar | ||
INSL4_chr9_5226419_5240304 | 5231525 | T | C | start_lost | HIGH | HG02055.hp2 HG02109.hp2 HG02145.hp1 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0003 | 5 | 428 | 0.0117 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
INSL4 | ENSG00000120211.4 | transcript | ENST00000239316.4 | protein_coding | 1/2 | 107/1952 | 2/420 | 1/139 | chr9 | TogoVar |