rs573242280 | p.Lys3Glu | missense variant | - | NC_000001.11:g.53940076T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Lys3Asn | missense variant | - | NC_000001.11:g.53940074T>G | NCI-TCGA |
rs200095391 | p.Ile4Thr | missense variant | - | NC_000001.11:g.53940072A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1396752834 | p.Asp5Tyr | missense variant | - | NC_000001.11:g.53940070C>A | TOPMed,gnomAD |
rs1396752834 | p.Asp5His | missense variant | - | NC_000001.11:g.53940070C>G | TOPMed,gnomAD |
rs980627724 | p.Leu6Ile | missense variant | - | NC_000001.11:g.53940067G>T | TOPMed,gnomAD |
rs774397250 | p.Cys7Ser | missense variant | - | NC_000001.11:g.53940063C>G | ExAC,gnomAD |
COSM464770 | p.Leu8Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.53940060A>T | NCI-TCGA Cosmic |
rs1309898266 | p.Leu8Pro | missense variant | - | NC_000001.11:g.53940060A>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Glu11Lys | missense variant | - | NC_000001.11:g.53940052C>T | NCI-TCGA |
rs1188585546 | p.Gly12Arg | missense variant | - | NC_000001.11:g.53940049C>T | gnomAD |
rs201720563 | p.Glu14Lys | missense variant | - | NC_000001.11:g.53940043C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs201720563 | p.Glu14Gln | missense variant | - | NC_000001.11:g.53940043C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1167114730 | p.Ala18Thr | missense variant | - | NC_000001.11:g.53940031C>T | TOPMed,gnomAD |
rs1425852767 | p.Thr19Ile | missense variant | - | NC_000001.11:g.53940027G>A | gnomAD |
rs1414966589 | p.Ser20Thr | missense variant | - | NC_000001.11:g.53940025A>T | gnomAD |
rs1182141590 | p.Ser21Gly | missense variant | - | NC_000001.11:g.53940022T>C | gnomAD |
rs776141122 | p.His25Asn | missense variant | - | NC_000001.11:g.53940010G>T | ExAC,TOPMed,gnomAD |
rs1477131139 | p.Pro26Gln | missense variant | - | NC_000001.11:g.53940006G>T | TOPMed |
rs1472246419 | p.Asn29Ser | missense variant | - | NC_000001.11:g.53939997T>C | TOPMed,gnomAD |
rs370367573 | p.Ile30Thr | missense variant | - | NC_000001.11:g.53939994A>G | ESP,TOPMed,gnomAD |
rs548680262 | p.Ile31Thr | missense variant | - | NC_000001.11:g.53939991A>G | ExAC,TOPMed,gnomAD |
rs748436535 | p.Gly33Arg | missense variant | - | NC_000001.11:g.53939986C>T | ExAC,gnomAD |
rs774579110 | p.Pro35Thr | missense variant | - | NC_000001.11:g.53930141G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Glu36Ter | stop gained | - | NC_000001.11:g.53930138C>A | NCI-TCGA |
rs769134105 | p.Thr37Met | missense variant | - | NC_000001.11:g.53930134G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Phe38Val | missense variant | - | NC_000001.11:g.53930132A>C | NCI-TCGA |
NCI-TCGA novel | p.Thr40Ile | missense variant | - | NC_000001.11:g.53930125G>A | NCI-TCGA |
rs780679621 | p.Thr41Ala | missense variant | - | NC_000001.11:g.53930123T>C | ExAC,TOPMed,gnomAD |
rs1335449507 | p.Met44Thr | missense variant | - | NC_000001.11:g.53930113A>G | TOPMed |
NCI-TCGA novel | p.Pro46Leu | missense variant | - | NC_000001.11:g.53930107G>A | NCI-TCGA |
NCI-TCGA novel | p.Gln47His | missense variant | - | NC_000001.11:g.53930103C>A | NCI-TCGA |
rs745958906 | p.Ile50Val | missense variant | - | NC_000001.11:g.53930096T>C | ExAC,gnomAD |
rs1418048144 | p.Ile50Asn | missense variant | - | NC_000001.11:g.53930095A>T | gnomAD |
NCI-TCGA novel | p.Phe53Cys | missense variant | - | NC_000001.11:g.53930086A>C | NCI-TCGA |
COSM3985142 | p.His54Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.53930084G>A | NCI-TCGA Cosmic |
rs781293591 | p.His54Leu | missense variant | - | NC_000001.11:g.53930083T>A | ExAC,gnomAD |
rs781293591 | p.His54Arg | missense variant | - | NC_000001.11:g.53930083T>C | ExAC,gnomAD |
rs777486814 | p.His56Leu | missense variant | - | NC_000001.11:g.53930077T>A | ExAC,gnomAD |
rs777486814 | p.His56Arg | missense variant | - | NC_000001.11:g.53930077T>C | ExAC,gnomAD |
rs1486789772 | p.Val57Ala | missense variant | - | NC_000001.11:g.53930074A>G | gnomAD |
rs1211286843 | p.Val57Ile | missense variant | - | NC_000001.11:g.53930075C>T | gnomAD |
COSM4860088 | p.Arg58Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.53930070C>A | NCI-TCGA Cosmic |
rs1259234476 | p.Arg58Met | missense variant | - | NC_000001.11:g.53930071C>A | gnomAD |
NCI-TCGA novel | p.Ile59Asn | missense variant | - | NC_000001.11:g.53930068A>T | NCI-TCGA |
rs752670381 | p.Val63Ile | missense variant | - | NC_000001.11:g.53930057C>T | ExAC,TOPMed,gnomAD |
rs1313892159 | p.Gln65His | missense variant | - | NC_000001.11:g.53930049T>G | TOPMed,gnomAD |
rs759417292 | p.Gln65Arg | missense variant | - | NC_000001.11:g.53930050T>C | ExAC,gnomAD |
rs1201147575 | p.Ser66Asn | missense variant | - | NC_000001.11:g.53930047C>T | TOPMed |
NCI-TCGA novel | p.Ser66Ile | missense variant | - | NC_000001.11:g.53930047C>A | NCI-TCGA |
rs562499809 | p.Tyr67Phe | missense variant | - | NC_000001.11:g.53930044T>A | 1000Genomes |
rs368867483 | p.Thr71Ile | missense variant | - | NC_000001.11:g.53928434G>A | ESP,ExAC,TOPMed,gnomAD |
rs368867483 | p.Thr71Ser | missense variant | - | NC_000001.11:g.53928434G>C | ESP,ExAC,TOPMed,gnomAD |
rs1228554363 | p.Lys73Glu | missense variant | - | NC_000001.11:g.53928429T>C | gnomAD |
rs770226191 | p.Ile74Val | missense variant | - | NC_000001.11:g.53928426T>C | ExAC,TOPMed,gnomAD |
rs1363764083 | p.Lys76Glu | missense variant | - | NC_000001.11:g.53928420T>C | TOPMed |
rs560478633 | p.Thr78Met | missense variant | - | NC_000001.11:g.53928413G>A | 1000Genomes,ExAC,gnomAD |
rs1369627561 | p.Lys80Glu | missense variant | - | NC_000001.11:g.53928408T>C | gnomAD |
rs1385648298 | p.Val83Leu | missense variant | - | NC_000001.11:g.53928399C>G | TOPMed |
rs779438262 | p.Val83Ala | missense variant | - | NC_000001.11:g.53928398A>G | ExAC,TOPMed,gnomAD |
rs779438262 | p.Val83Gly | missense variant | - | NC_000001.11:g.53928398A>C | ExAC,TOPMed,gnomAD |
COSM910823 | p.Trp88Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.53928384A>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Trp88Ter | stop gained | - | NC_000001.11:g.53928383C>T | NCI-TCGA |
rs777778737 | p.Trp88Cys | missense variant | - | NC_000001.11:g.53928382C>A | ExAC,gnomAD |
rs772309695 | p.Lys91Thr | missense variant | - | NC_000001.11:g.53928374T>G | ExAC,TOPMed,gnomAD |
rs748299089 | p.Asp92His | missense variant | - | NC_000001.11:g.53928372C>G | ExAC,TOPMed,gnomAD |
rs748423925 | p.Glu97Ala | missense variant | - | NC_000001.11:g.53923932T>G | ExAC |
rs774529000 | p.Gln99Ter | stop gained | - | NC_000001.11:g.53923927G>A | ExAC,gnomAD |
rs570139005 | p.Leu100Pro | missense variant | - | NC_000001.11:g.53923923A>G | 1000Genomes,ExAC,gnomAD |
rs1220591599 | p.Glu103Lys | missense variant | - | NC_000001.11:g.53923915C>T | gnomAD |
rs1254315719 | p.Glu104Gly | missense variant | - | NC_000001.11:g.53923911T>C | TOPMed |
rs184845070 | p.Glu104Asp | missense variant | - | NC_000001.11:g.53923910T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs756083768 | p.Ile105Thr | missense variant | - | NC_000001.11:g.53923908A>G | ExAC,TOPMed,gnomAD |
rs779676824 | p.Ile105Leu | missense variant | - | NC_000001.11:g.53923909T>G | ExAC,gnomAD |
rs745744254 | p.Val106Leu | missense variant | - | NC_000001.11:g.53923906C>A | ExAC,gnomAD |
rs745868802 | p.His108Arg | missense variant | - | NC_000001.11:g.53921763T>C | ExAC,gnomAD |
rs374388539 | p.His108Gln | missense variant | - | NC_000001.11:g.53921762A>T | ESP,ExAC,TOPMed,gnomAD |
rs746538301 | p.Gly110Asp | missense variant | - | NC_000001.11:g.53921757C>T | ExAC,gnomAD |
COSM4832589 | p.Ser111Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.53921754G>C | NCI-TCGA Cosmic |
rs184049812 | p.Ala112Ser | missense variant | - | NC_000001.11:g.53921752C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs184049812 | p.Ala112Thr | missense variant | - | NC_000001.11:g.53921752C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs780521375 | p.Thr113Ala | missense variant | - | NC_000001.11:g.53921749T>C | ExAC,TOPMed,gnomAD |
COSM1343468 | p.Thr113Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000001.11:g.53921748G>C | NCI-TCGA Cosmic |
rs750981811 | p.Tyr114Ter | stop gained | - | NC_000001.11:g.53921744G>T | ExAC,gnomAD |
rs750981811 | p.Tyr114Ter | stop gained | - | NC_000001.11:g.53921744G>C | ExAC,gnomAD |
rs1212638637 | p.Phe117Leu | missense variant | - | NC_000001.11:g.53921735G>T | gnomAD |
rs1338468522 | p.Ile118Val | missense variant | - | NC_000001.11:g.53921734T>C | TOPMed,gnomAD |
rs1298693760 | p.Val120Ile | missense variant | - | NC_000001.11:g.53921728C>T | gnomAD |
rs140103685 | p.Ala122Thr | missense variant | - | NC_000001.11:g.53921722C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asp124Ala | missense variant | - | NC_000001.11:g.53921715T>G | NCI-TCGA |
rs1368887125 | p.Asp124His | missense variant | - | NC_000001.11:g.53921716C>G | gnomAD |
rs751666876 | p.Ala127Ser | missense variant | - | NC_000001.11:g.53921707C>A | ExAC,gnomAD |
rs558406534 | p.Val129Leu | missense variant | - | NC_000001.11:g.53921701C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1220163114 | p.His130Tyr | missense variant | - | NC_000001.11:g.53921698G>A | TOPMed |
rs769672593 | p.His130Arg | missense variant | - | NC_000001.11:g.53921697T>C | ExAC,gnomAD |
rs759380969 | p.Ser131Gly | missense variant | - | NC_000001.11:g.53921695T>C | ExAC,gnomAD |
rs776516954 | p.Ser131Asn | missense variant | - | NC_000001.11:g.53921694C>T | ExAC,TOPMed,gnomAD |
rs377747922 | p.Val132Ala | missense variant | - | NC_000001.11:g.53921691A>G | ESP,ExAC,TOPMed,gnomAD |
rs746875573 | p.Val132Ile | missense variant | - | NC_000001.11:g.53921692C>T | ExAC,TOPMed,gnomAD |
rs771467847 | p.Ser133Ala | missense variant | - | NC_000001.11:g.53921689A>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala134Thr | missense variant | - | NC_000001.11:g.53921686C>T | NCI-TCGA |
rs1209581911 | p.Val138Ile | missense variant | - | NC_000001.11:g.53921674C>T | TOPMed |
NCI-TCGA novel | p.Ser140Leu | missense variant | - | NC_000001.11:g.53921667G>A | NCI-TCGA |
rs1377690001 | p.Asn141Asp | missense variant | - | NC_000001.11:g.53921665T>C | gnomAD |
rs374128989 | p.Leu142Pro | missense variant | - | NC_000001.11:g.53921661A>G | ESP,ExAC,TOPMed,gnomAD |
rs1489385582 | p.Ser144Leu | missense variant | - | NC_000001.11:g.53921655G>A | TOPMed |
rs781473632 | p.Ter145Gln | stop lost | - | NC_000001.11:g.53921653A>G | ExAC,gnomAD |