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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FXR2_chr17_7586230_7619897 | 7614454 | T | A | stop_gained others(1): Show |
HIGH | NA18906.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0058 | 1 | 426 | 0.0024 | 0 | c.79A others(2): Show |
p.Lys others(3): Show |
FXR2 | ENSG00000129245.13 | transcript | ENST00000250113.12 | protein_coding | 1/17 | 444/2987 | 79/2022 | 27/673 | chr17 | TogoVar | ||
FZD3_chr8_28489212_28579258 | 28562904 | C | T | stop_gained | HIGH | HG02523.hp2 | a0002 | a0002c0007 | a0002c0007t0092 | a0002c0007t0092g0160 | 1 | 328 | 0.0031 | 0 | c.189 others(4): Show |
p.Gln others(4): Show |
FZD3 | ENSG00000104290.11 | transcript | ENST00000240093.8 | protein_coding | 8/8 | 2416/13770 | 1894/2001 | 632/666 | chr8 | TogoVar | ||
FZD7_chr2_202028855_202043441 | 202035079 | G | GGGCCCCC others(29): Show |
stop_gained others(1): Show |
HIGH | HG03704.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0000 | 1 | 420 | 0.0024 | 36 | c.432 others(43): Show |
p.Glu others(49): Show |
FZD7 | ENSG00000155760.3 | transcript | ENST00000286201.3 | protein_coding | 1/1 | 1226/4587 | 433/1725 | 145/574 | chr2 | 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 | ||
GABPB2_chr1_151065761_151130542 | 151118095 | C | T | stop_gained | HIGH | NA18980.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0247 | 1 | 264 | 0.0038 | 0 | c.118 others(4): Show |
p.Gln others(4): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 9/9 | 1360/8807 | 1186/1347 | 396/448 | chr1 | TogoVar | ||
GABRR3_chr3_97980102_98040315 | 98007903 | A | T | stop_gained others(1): Show |
HIGH | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(43): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0271a0002c0002t0002g0002a0002c0002t0002g0004others(40): Show | 46 | 382 | 0.1204 | 0 | c.615 others(3): Show |
p.Tyr others(4): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 7/10 | 743/3113 | 615/1404 | 205/467 | chr3 | TogoVar | ||
GAGE12F_chrX_49555842_49573205 | 49565545 | T | TA | frameshift_variant others(1): Show |
HIGH | NA18978.hp2 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0088 | 1 | 99 | 0.0101 | 1 | c.256 others(8): Show |
p.Cys others(4): Show |
GAGE12F | ENSG00000236362.9 | transcript | ENST00000440137.2 | protein_coding | 4/5 | 373/561 | 257/354 | 86/117 | chrX | TogoVar | ||
GAGE1_chrX_49594020_49613538 | 49600742 | G | T | stop_gained | HIGH | HG02280.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0081 | 1 | 311 | 0.0032 | 0 | c.103 others(3): Show |
p.Glu others(3): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 3/5 | 219/2993 | 103/354 | 35/117 | chrX | TogoVar | ||
GAGE1_chrX_49594020_49613538 | 49600811 | G | T | stop_gained | HIGH | NA19030.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0080 | 1 | 311 | 0.0032 | 0 | c.172 others(3): Show |
p.Glu others(3): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 3/5 | 288/2993 | 172/354 | 58/117 | chrX | TogoVar | ||
GAL3ST3_chr11_66035765_66054161 | 66043233 | G | T | stop_gained | HIGH | HG02622.hp2 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0075 | 1 | 394 | 0.0025 | 0 | c.570 others(3): Show |
p.Tyr others(4): Show |
GAL3ST3 | ENSG00000175229.7 | transcript | ENST00000312006.5 | protein_coding | 3/3 | 833/3301 | 570/1296 | 190/431 | chr11 | TogoVar | ||
GAL3ST4_chr7_100154244_100173617 | 100160311 | G | A | stop_gained | HIGH | HG03486.hp1 | a0009 | a0009c0012 | a0009c0012t0003 | a0009c0012t0003g0155 | 1 | 402 | 0.0025 | 0 | c.107 others(4): Show |
p.Arg others(4): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 4/4 | 1338/2405 | 1078/1461 | 360/486 | chr7 | TogoVar | ||
GAL3ST4_chr7_100154244_100173617 | 100160522 | C | T | stop_gained | HIGH | HG02818.hp1 NA20300.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0064a0007c0009t0001g0081 | 2 | 402 | 0.0050 | 0 | c.867 others(3): Show |
p.Trp others(4): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 4/4 | 1127/2405 | 867/1461 | 289/486 | chr7 | TogoVar | ||
GALNT2_chr1_230062238_230287122 | 230265281 | C | T | stop_gained | HIGH | HG01358.hp2 | a0004 | a0004c0013 | a0004c0013t0047 | a0004c0013t0047g0006 | 1 | 324 | 0.0031 | 0 | c.135 others(4): Show |
p.Gln others(4): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 14/16 | 1397/4423 | 1354/1716 | 452/571 | chr1 | TogoVar | ||
GALNT8_chr12_4715400_4777726 | 4761075 | C | T | stop_gained | HIGH | HG02056.hp2 | a0017 | a0017c0026 | a0017c0026t0001 | a0017c0026t0001g0078 | 1 | 338 | 0.0030 | 0 | c.129 others(4): Show |
p.Arg others(4): Show |
GALNT8 | ENSG00000130035.9 | transcript | ENST00000252318.7 | protein_coding | 7/11 | 1569/2321 | 1291/1914 | 431/637 | chr12 | TogoVar | ||
GBGT1_chr9_133147948_133168914 | 133154258 | G | T | stop_gained | HIGH | HG01243.hp2 HG01261.hp2 HG01884.hp2 others(5): Show |
a0004a0010a0018others(1): Show | a0004c0008a0004c0026a0010c0032others(2): Show | a0004c0008t0001a0004c0008t0002a0004c0008t0009others(4): Show | a0004c0008t0001g0063a0004c0008t0001g0192a0004c0008t0002g0183others(5): Show | 8 | 446 | 0.0179 | 0 | c.363 others(3): Show |
p.Tyr others(4): Show |
GBGT1 | ENSG00000148288.13 | transcript | ENST00000372040.9 | protein_coding | 7/7 | 644/1954 | 363/1044 | 121/347 | chr9 | TogoVar | ||
GBP1_chr1_89047319_89070208 | 89059015 | G | A | stop_gained | HIGH | NA18973.hp2 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0143 | 1 | 430 | 0.0023 | 0 | c.457 others(3): Show |
p.Arg others(4): Show |
GBP1 | ENSG00000117228.11 | transcript | ENST00000370473.5 | protein_coding | 5/11 | 525/2883 | 457/1779 | 153/592 | chr1 | TogoVar | ||
GCKR_chr2_27491839_27528684 | 27503548 | C | T | stop_gained | HIGH | HG02523.hp2 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0182 | 1 | 324 | 0.0031 | 0 | c.679 others(3): Show |
p.Arg others(4): Show |
GCKR | ENSG00000084734.9 | transcript | ENST00000264717.7 | protein_coding | 9/19 | 745/2189 | 679/1878 | 227/625 | chr2 | TogoVar | ||
GCKR_chr2_27491839_27528684 | 27522505 | C | T | stop_gained | HIGH | HG01358.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0221 | 1 | 324 | 0.0031 | 0 | c.161 others(4): Show |
p.Arg others(4): Show |
GCKR | ENSG00000084734.9 | transcript | ENST00000264717.7 | protein_coding | 18/19 | 1684/2189 | 1618/1878 | 540/625 | chr2 | TogoVar | ||
GCNT3_chr15_59606783_59627723 | 59618450 | C | G | stop_gained | HIGH | homoSapiens_chm13v2.hp1 | a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0001 | 1 | 428 | 0.0023 | 0 | c.212 others(3): Show |
p.Ser others(3): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 3/3 | 661/4934 | 212/1317 | 71/438 | chr15 | TogoVar | ||
GDI1_chrX_154432154_154448467 | 154440127 | A | AAC | frameshift_variant others(1): Show |
HIGH | NA19006.hp1 | a0005 | a0005c0008 | a0005c0008t0005 | a0005c0008t0005g0024 | 1 | 283 | 0.0035 | 2 | c.575 others(9): Show |
p.Tyr others(5): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 5/11 | 677/2240 | 576/1344 | 192/447 | chrX | TogoVar | ||
GDI1_chrX_154432154_154448467 | 154442194 | A | ACCACGGA others(21): Show |
frameshift_variant others(1): Show |
HIGH | NA19006.hp1 | a0005 | a0005c0008 | a0005c0008t0005 | a0005c0008t0005g0024 | 1 | 283 | 0.0035 | 28 | c.109 others(37): Show |
p.Glu others(5): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 9/11 | 1201/2240 | 1100/1344 | 367/447 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
GGTLC3_chr22_18511344_18523161 | 18517489 | G | T | stop_gained others(1): Show |
HIGH | HG02738.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0006 | 1 | 34 | 0.0294 | 0 | c.177 others(3): Show |
p.Tyr others(3): Show |
GGTLC3 | ENSG00000274252.1 | transcript | ENST00000619998.1 | protein_coding | 3/6 | 310/968 | 177/678 | 59/225 | chr22 | TogoVar | ||
GHDC_chr17_42184087_42199494 | 42189819 | G | A | stop_gained | HIGH | HG01123.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0034 | 1 | 374 | 0.0027 | 0 | c.147 others(4): Show |
p.Arg others(4): Show |
GHDC | ENSG00000167925.17 | transcript | ENST00000587427.6 | protein_coding | 10/10 | 1676/2408 | 1477/1593 | 493/530 | chr17 | TogoVar | ||
GINS4_chr8_41524261_41550030 | 41541856 | C | T | stop_gained | HIGH | HG02129.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0007 | 1 | 426 | 0.0024 | 0 | c.532 others(3): Show |
p.Arg others(4): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 7/8 | 687/3770 | 532/672 | 178/223 | chr8 | TogoVar | ||
GJA10_chr6_89889469_89901120 | 89895945 | C | T | stop_gained | HIGH | HG01257.hp2 HG02293.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0000 | 2 | 386 | 0.0052 | 0 | c.147 others(4): Show |
p.Gln others(4): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 1/1 | 1477/1652 | 1477/1632 | 493/543 | chr6 | TogoVar | ||
GJB4_chr1_34754740_34767327 | 34761492 | C | T | stop_gained | HIGH | HG01109.hp1 HG02647.hp1 HG02886.hp2 others(5): Show |
a0005 | a0005c0006a0005c0009 | a0005c0006t0001a0005c0006t0004a0005c0009t0001 | a0005c0006t0001g0002a0005c0006t0004g0002a0005c0009t0001g0002 | 8 | 462 | 0.0173 | 0 | c.238 others(3): Show |
p.Gln others(3): Show |
GJB4 | ENSG00000189433.7 | transcript | ENST00000339480.3 | protein_coding | 2/2 | 609/1444 | 238/801 | 80/266 | chr1 | TogoVar | ||
GK2_chr4_79401361_79413228 | 79406745 | G | A | stop_gained | HIGH | HG02040.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0000 | 1 | 402 | 0.0025 | 0 | c.145 others(4): Show |
p.Arg others(4): Show |
GK2 | ENSG00000196475.6 | transcript | ENST00000358842.5 | protein_coding | 1/1 | 1484/1868 | 1456/1662 | 486/553 | chr4 | TogoVar | ||
GK3_chr4_165272807_165284704 | 165278433 | G | A | stop_gained | HIGH | NA18978.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0000 | 1 | 384 | 0.0026 | 0 | c.121 others(4): Show |
p.Arg others(4): Show |
GK3 | ENSG00000229894.5 | transcript | ENST00000505354.3 | protein_coding | 1/1 | 1272/1898 | 1213/1662 | 405/553 | chr4 | TogoVar | ||
GK3_chr4_165272807_165284704 | 165279103 | C | T | stop_gained | HIGH | NA19063.hp2 | a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0000 | 1 | 384 | 0.0026 | 0 | c.543 others(3): Show |
p.Trp others(4): Show |
GK3 | ENSG00000229894.5 | transcript | ENST00000505354.3 | protein_coding | 1/1 | 602/1898 | 543/1662 | 181/553 | chr4 | TogoVar | ||
GLB1L2_chr11_134326988_134381324 | 134356357 | T | A | stop_gained | HIGH | NA18985.hp1 NA18990.hp1 |
a0008a0011 | a0008c0035a0011c0021 | a0008c0035t0001a0011c0021t0002 | a0008c0035t0001g0279a0011c0021t0002g0267 | 2 | 414 | 0.0048 | 0 | c.615 others(3): Show |
p.Tyr others(4): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 6/19 | 689/3251 | 615/1911 | 205/636 | chr11 | TogoVar | ||
GLB1L3_chr11_134271379_134324564 | 134277444 | C | T | stop_gained | HIGH | HG03927.hp1 | a0006 | a0006c0021 | a0006c0021t0001 | a0006c0021t0001g0235 | 1 | 422 | 0.0024 | 0 | c.142 others(3): Show |
p.Gln others(3): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 2/20 | 504/2946 | 142/1962 | 48/653 | chr11 | TogoVar | ||
GLDC_chr9_6527467_6650729 | 6610328 | C | A | stop_gained | HIGH | HG00642.hp2 | a0010 | a0010c0039 | a0010c0039t0006 | a0010c0039t0006g0227 | 1 | 342 | 0.0029 | 0 | c.499 others(3): Show |
p.Glu others(4): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 4/25 | 729/3843 | 499/3063 | 167/1020 | chr9 | TogoVar | ||
GLOD5_chrX_48756747_48778648 | 48773385 | C | T | stop_gained | HIGH | NA18981.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0177 | 1 | 269 | 0.0037 | 0 | c.433 others(3): Show |
p.Arg others(4): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 4/4 | 477/740 | 433/483 | 145/160 | chrX | TogoVar | ||
GNAZ_chr22_23065519_23130032 | 23123154 | C | G | stop_gained | HIGH | HG03490.hp1 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0187 | 1 | 334 | 0.0030 | 0 | c.791 others(3): Show |
p.Ser others(4): Show |
GNAZ | ENSG00000128266.9 | transcript | ENST00000615612.2 | protein_coding | 3/3 | 1292/3170 | 791/1068 | 264/355 | chr22 | TogoVar | ||
GNB5_chr15_52110100_52196392 | 52133444 | C | T | stop_gained | HIGH | NA18940.hp1 | a0004 | a0004c0008 | a0004c0008t0005 | a0004c0008t0005g0234 | 1 | 366 | 0.0027 | 0 | c.797 others(3): Show |
p.Trp others(4): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 9/13 | 886/8934 | 797/1188 | 266/395 | chr15 | TogoVar | ||
GNG14_chr19_12682998_12693422 | 12688096 | G | A | stop_gained | HIGH | HG01081.hp2 | a0006 | a0006c0006 | a0006c0006t0004 | a0006c0006t0004g0000 | 1 | 370 | 0.0027 | 0 | c.48G others(2): Show |
p.Trp others(3): Show |
GNG14 | ENSG00000283980.1 | transcript | ENST00000640151.1 | protein_coding | 1/1 | 99/425 | 48/324 | 16/107 | chr19 | TogoVar | ||
GNG14_chr19_12682998_12693422 | 12688133 | C | T | stop_gained | HIGH | HG01884.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0000 | 1 | 370 | 0.0027 | 0 | c.85C others(2): Show |
p.Gln others(3): Show |
GNG14 | ENSG00000283980.1 | transcript | ENST00000640151.1 | protein_coding | 1/1 | 136/425 | 85/324 | 29/107 | chr19 | TogoVar | ||
GNLY_chr2_85689358_85703852 | 85694429 | G | A | stop_gained | HIGH | HG00735.hp2 HG01109.hp2 HG02572.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0007a0003c0003t0003g0020 | 8 | 398 | 0.0201 | 0 | c.11G others(2): Show |
p.Trp others(2): Show |
GNLY | ENSG00000115523.17 | transcript | ENST00000263863.9 | protein_coding | 1/5 | 72/777 | 11/438 | 4/145 | chr2 | TogoVar | ||
GNPDA1_chr5_141995671_142018027 | 142002082 | T | A | stop_gained | HIGH | NA18997.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0068 | 1 | 423 | 0.0024 | 0 | c.817 others(3): Show |
p.Lys others(4): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 7/7 | 856/2267 | 817/870 | 273/289 | chr5 | TogoVar | ||
GNRHR_chr4_67732118_67759388 | 67753821 | C | CTAGTTAG others(51): Show |
frameshift_variant others(1): Show |
HIGH | HG02717.hp2 | a0003 | a0003c0006 | a0003c0006t0006 | a0003c0006t0006g0150 | 1 | 388 | 0.0026 | 58 | c.514 others(65): Show |
p.Gly others(5): Show |
GNRHR | ENSG00000109163.7 | transcript | ENST00000226413.5 | protein_coding | 1/3 | 567/4402 | 514/987 | 172/328 | chr4 | TogoVar | ||
GOLGA6A_chr15_74064857_74087550 | 74074705 | G | A | stop_gained | HIGH | HG02647.hp2 | a0019 | a0019c0027 | a0019c0027t0001 | a0019c0027t0001g0115 | 1 | 137 | 0.0073 | 0 | c.114 others(4): Show |
p.Arg others(4): Show |
GOLGA6A | ENSG00000159289.6 | transcript | ENST00000290438.3 | protein_coding | 11/18 | 1185/3176 | 1144/2082 | 382/693 | chr15 | 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 | ||
GOLGA6B_chr15_72649697_72674599 | 72662674 | C | T | stop_gained | HIGH | HG02895.hp1 | a0023 | a0023c0018 | a0023c0018t0006 | a0023c0018t0006g0087 | 1 | 333 | 0.0030 | 0 | c.127 others(4): Show |
p.Gln others(4): Show |
GOLGA6B | ENSG00000215186.7 | transcript | ENST00000421285.4 | protein_coding | 11/18 | 1311/5380 | 1270/2082 | 424/693 | chr15 | TogoVar | ||
GOLGA6D_chr15_75277835_75300530 | 75289625 | C | T | stop_gained | HIGH | HG02056.hp2 NA18961.hp2 NA19090.hp1 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0004a0008c0009t0001g0082 | 3 | 234 | 0.0128 | 0 | c.685 others(3): Show |
p.Arg others(4): Show |
GOLGA6D | ENSG00000140478.17 | transcript | ENST00000434739.4 | protein_coding | 9/18 | 726/3178 | 685/2082 | 229/693 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82344824 | G | A | stop_gained | HIGH | HG02572.hp2 HG02723.hp2 HG02970.hp2 others(3): Show |
a0011a0053 | a0011c0010a0053c0049 | a0011c0010t0010a0053c0049t0045 | a0011c0010t0010g0017a0011c0010t0010g0123a0011c0010t0010g0125others(1): Show | 6 | 301 | 0.0199 | 0 | c.103 others(4): Show |
p.Gln others(4): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1136/4452 | 1036/1569 | 346/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ACGTAGCC others(12): Show |
frameshift_variant others(1): Show |
HIGH | HG03579.hp2 | a0042 | a0042c0062 | a0042c0062t0041 | a0042c0062t0041g0157 | 1 | 301 | 0.0033 | 19 | c.752 others(26): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(33): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show |
a0003a0005a0043 | a0003c0003a0003c0061a0005c0005others(1): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(23): Show | 60 | 301 | 0.1993 | 40 | c.752 others(47): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(12): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp1 | a0055 | a0055c0052 | a0055c0052t0001 | a0055c0052t0001g0091 | 1 | 301 | 0.0033 | 19 | c.752 others(26): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(54): Show |
frameshift_variant others(1): Show |
HIGH | HG00733.hp1 HG01433.hp2 HG03225.hp1 |
a0016 | a0016c0015 | a0016c0015t0002 | a0016c0015t0002g0019 | 3 | 301 | 0.0100 | 61 | c.752 others(68): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23129472 | G | A | stop_gained others(1): Show |
HIGH | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(52): Show |
a0002a0004a0006others(22): Show | a0002c0003a0002c0046a0002c0048others(24): Show | a0002c0003t0002a0002c0003t0018a0002c0046t0002others(27): Show | a0002c0003t0002g0005a0002c0003t0002g0015a0002c0003t0002g0016others(40): Show | 55 | 204 | 0.2696 | 0 | c.198 others(4): Show |
p.Gln others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 2072/3822 | 1981/2007 | 661/668 | chr15 | TogoVar |