Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut IK 3550 broad.mit.edu 37 5 140038918 140038918 + Splice_Site SNP G G T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr5:140038918G>T uc003lgq.3 + 13 1305 c.1195_splice c.e13+1 p.G399_splice IK_uc021yen.1_Splice_Site_p.G340_splice|U7_uc021yeo.1_5'Flank NM_006083 NP_006074 Q13123 RED_HUMAN Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA. 399 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTTGACAAAGGTGAGTTGTA 0.498000 4 78 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69107516 69107516 + Silent SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr4:69107516G>A uc003hdw.4 - 1 151 c.15C>T c.(13-15)ggC>ggT p.G5G NM_182502 NP_872308 Q86T26 TM11B_HUMAN Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA. 5 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 GGGAAGATATGCCGTGCCTAT 0.378000 15 36 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24424482 24424482 + Missense_Mutation SNP C C T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr1:24424482C>T uc001bin.4 - 6 839 c.676G>A c.(676-678)Gca>Aca p.A226T MYOM3_uc001bim.4_5'Flank|MYOM3_uc001bio.3_Missense_Mutation_p.A226T|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 226 Ig-like C2-type 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GTGTAAGTTGCTGAGTCCTCA 0.582000 4 205 0 0 1 0 0 PTDSS2 81490 broad.mit.edu 37 11 490485 490485 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:490485G>A uc001lpj.3 + 11 1543 c.1367G>A c.(1366-1368)aGc>aAc p.S456N NM_030783 NP_110410 Q9BVG9 PTSS2_HUMAN Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA. 456 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) GACCAGGGCAGCACCGTCGGC 0.657000 3 52 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30133033 30133033 + Missense_Mutation SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr14:30133033A>G uc001wqh.3 - 3 749 c.568T>C c.(568-570)Ttt>Ctt p.F190L MIR548AI_uc021rrv.1_Intron NM_002742 NP_002733 Q15139 KPCD1_HUMAN Homo sapiens protein kinase D1 (PRKD1), mRNA. 190 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GGTATTTTAAATGCACATCTC 0.403000 12 228 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1381773 1381773 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr17:1381773G>A uc002fsp.3 - 10 1446 c.1226C>T c.(1225-1227)cCc>cTc p.P409L MYO1C_uc002fsn.3_Missense_Mutation_p.P390L|MYO1C_uc002fso.3_Missense_Mutation_p.P374L|MYO1C_uc010vqj.1_Missense_Mutation_p.P374L|MYO1C_uc010vqk.1_Missense_Mutation_p.P385L NM_001080779 NP_203693 O00159 MYO1C_HUMAN Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA. 409 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCGCCAGCTGGGGCTCTCCAC 0.652000 5 84 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90371839 90371839 + Silent SNP T T C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr6:90371839T>C uc003pnn.1 - 86 14648 c.14532A>G c.(14530-14532)caA>caG p.Q4844Q NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 4844 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGTCTTCACCTTGTCCACCAT 0.388000 3 172 0 0 1 0 0 EID3 493861 broad.mit.edu 37 12 104698071 104698071 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr12:104698071G>A uc001tkw.3 + 0 562 c.359G>A c.(358-360)tGt>tAt p.C120Y TXNRD1_uc021rcx.1_Intron|TXNRD1_uc021rcy.1_Intron|TXNRD1_uc021rcz.1_Intron|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Intron|TXNRD1_uc001tku.3_Intron|TXNRD1_uc001tkv.2_Intron NM_001008394 NP_001008395 Q8N140 EID3_HUMAN Homo sapiens EP300 interacting inhibitor of differentiation 3 (EID3), mRNA. 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TTAGCATTTTGTGACTTTCTG 0.428000 5 247 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23292246 23292246 + Missense_Mutation SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr10:23292246A>G uc001irm.4 + 12 1717 c.1634A>G c.(1633-1635)aAt>aGt p.N545S ARMC3_uc010qcv.2_Missense_Mutation_p.N545S|ARMC3_uc010qcw.2_Missense_Mutation_p.N282S NM_173081 NP_775104 Q5W041 ARMC3_HUMAN Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA. 545 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCAGCTTATAATAAGTTGCTC 0.348000 17 101 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118361935 118361935 + Missense_Mutation SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:118361935A>G uc001ptb.3 + 13 4744 c.4721A>G c.(4720-4722)aAa>aGa p.K1574R MLL_uc001pta.3_Missense_Mutation_p.K1574R|MLL_uc001pte.1_Non-coding_Transcript NM_001197104 NP_001184033 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA. 1574 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CTCTGTGACAAATGTTATGAT 0.433000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 3 159 0 0 1 0 0 PPWD1 23398 broad.mit.edu 37 5 64875316 64875317 + Missense_Mutation DNP TA TA GC TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr5:64875316_64875317TA>GC uc003jtv.4 + 6 1233_1234 c.1226_1227TA>GC c.(1225-1227)ata>aGC p.I409S PPWD1_uc011cqv.2_Missense_Mutation_p.I379S|PPWD1_uc011cqw.2_Missense_Mutation_p.I253S NM_015342 NP_056157 Q96BP3 PPWD1_HUMAN Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA. 409 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) TTCCAGGGGATAGCCAAAAAGC 0.356000 3 71 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956155 18956155 + Silent SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:18956155G>A uc001mpg.3 - 0 395 c.177C>T c.(175-177)aaC>aaT p.N59N NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 59 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGGAGAAGGCGTTCCTGCGCA 0.562000 6 202 0 0 1 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37254821 37254821 + Silent SNP G G A rs74511891 by1000genomes TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr6:37254821G>A uc003onn.3 + 6 986 c.840G>A c.(838-840)ccG>ccA p.P280P TBC1D22B_uc010jwt.3_Non-coding_Transcript NM_017772 NP_060242 Q9NU19 TB22B_HUMAN Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA. 280 Rab-GAP TBC. intracellular Rab GTPase activator activity p.P280Q(1) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) CTCTCATTCCGTTGTTCCAGC 0.418000 70 96 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64415766 64415766 + Missense_Mutation SNP C C T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:64415766C>T uc021qkw.1 - 16 3790 c.3328G>A c.(3328-3330)Gtc>Atc p.V1110I NRXN2_uc021qkx.1_Missense_Mutation_p.V1070I|NRXN2_uc001oas.3_Missense_Mutation_p.V1070I|NRXN2_uc001oaq.3_Missense_Mutation_p.V777I NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 1110 EGF-like 3. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TGCAAGCAGACGCCCTGGTTG 0.632000 5 110 0 0 1 0 0 PA2G4 5036 broad.mit.edu 37 12 56500441 56500441 + Missense_Mutation SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr12:56500441A>G uc001sjm.3 + 1 577 c.158A>G c.(157-159)gAt>gGt p.D53G NM_006191 NP_006182 Q9UQ80 PA2G4_HUMAN Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA. 53 RNA-binding. cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) gagaaaggtgatgccatgATT 0.433000 20 34 0 0 1 0 0 FBXO11 80204 broad.mit.edu 37 2 48066119 48066119 + Nonsense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr2:48066119G>A uc002rwe.3 - 3 539 c.466C>T c.(466-468)Cag>Tag p.Q156* FBXO11_uc010fbl.3_Nonsense_Mutation_p.Q72*|FBXO11_uc002rwg.2_Nonsense_Mutation_p.Q156*|FBXO11_uc021vhe.1_5'Flank NM_001190274 NP_001177203 Q86XK2 FBX11_HUMAN Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA. 156 F-box. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGTTTCTCCTGAAGATACTGT 0.353000 """Mis, F, D""" DLBCL 5 101 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24964736 24964736 + Silent SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr2:24964736G>A uc002rfk.3 + 16 3646 c.3387G>A c.(3385-3387)caG>caA p.Q1129Q NCOA1_uc010eye.3_Silent_p.Q1129Q|NCOA1_uc002rfi.3_Silent_p.Q978Q|NCOA1_uc002rfj.3_Silent_p.Q1129Q|NCOA1_uc002rfl.3_Silent_p.Q1129Q|NCOA1_uc010eyf.3_Silent_p.Q22Q NM_003743 NP_003734 Q15788 NCOA1_HUMAN Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA. 1129 Gln-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAATACAGCAGCAAAGAGCCA 0.522000 T PAX3 alveolar rhadomyosarcoma 3 76 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76802345 76802345 + Silent SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr17:76802345G>A uc002jvz.1 - 14 2434 c.2109C>T c.(2107-2109)acC>acT p.T703T USP36_uc002jwa.1_Silent_p.T703T|USP36_uc002jwb.1_Silent_p.T340T|USP36_uc002jwc.1_Silent_p.T403T NM_025090 NP_079366 Q9P275 UBP36_HUMAN Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA. 703 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.T703T(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GGTCATTGCCGGTCGCCCTCC 0.542000 3 108 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107013366 107013366 + RNA SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr14:107013366A>G uc021ser.1 - 218 c.8510T>C Parts of antibodies, mostly variable regions. TAAAATAGCAACAAGGAAAAC 0.478000 4 180 0 0 1 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035909 110035909 + Missense_Mutation SNP A A G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:110035909A>G uc010rwc.2 + 5 2102 c.2102A>G c.(2101-2103)aAg>aGg p.K701R ZC3H12C_uc009yxw.3_Missense_Mutation_p.K700R|ZC3H12C_uc010rwd.2_Missense_Mutation_p.K701R|ZC3H12C_uc001pkr.4_Missense_Mutation_p.K669R NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA. 700 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TTCCATCACAAGCCTCCTCTT 0.587000 12 311 0 0 1 0 0 MOGAT2 80168 broad.mit.edu 37 11 75442250 75442250 + Silent SNP T T C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:75442250T>C uc010rru.2 + 5 924 c.924T>C c.(922-924)taT>taC p.Y308Y MOGAT2_uc010rrv.2_Silent_p.Y226Y NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA. 308 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) ACCAGCGTTATATCAAAGAGC 0.562000 4 127 0 0 1 0 0 SULT1A1 6817 broad.mit.edu 37 16 28620147 28620147 + Silent SNP C C T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr16:28620147C>T uc002dqn.3 - 4 895 c.303G>A c.(301-303)ccG>ccA p.P101P NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.P10P|SULT1A1_uc002dqi.3_Silent_p.P10P|SULT1A1_uc002dqk.3_Silent_p.P10P|SULT1A1_uc002dql.3_Silent_p.P10P|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.P10P NM_177534 NP_803878 P50225 ST1A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA. 10 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity p.P100L(1) endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 ACTCCAGTGGCGGGCGGGAGG 0.607000 14 77 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144859906 144859906 + Missense_Mutation SNP G G T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr1:144859906G>T uc021ouh.1 - 37 6480 c.6178C>A c.(6178-6180)Cag>Aag p.Q2060K NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q2060K|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q1954K|PDE4DIP_uc001elv.4_Missense_Mutation_p.Q1067K NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 2060 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGAATGCTCTGCTCCAGCTGC 0.577000 T PDGFRB MPD 8 135 0 0 1 0 0 LSR 51599 broad.mit.edu 37 19 35757281 35757281 + Silent SNP A A T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr19:35757281A>T uc002nyl.3 + 5 1165 c.942A>T c.(940-942)gcA>gcT p.A314A LSR_uc010xsr.2_Silent_p.A206A|LSR_uc002nym.3_Silent_p.A295A|LSR_uc002nyn.3_Silent_p.A246A|LSR_uc002nyo.3_Silent_p.A295A|LSR_uc002nyp.3_Silent_p.A277A|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA. 314 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCGGCAAAGCAGCCACCTCAG 0.617000 7 202 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26731693 26731693 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr12:26731693G>A uc001rhg.3 - 33 5000 c.4583C>T c.(4582-4584)gCg>gTg p.A1528V NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 1528 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GGCTTTCTGCGCTGGGTTTGG 0.393000 12 123 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283595 33283595 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr6:33283595G>A uc003oeb.3 - 1 1251 c.1099C>T c.(1099-1101)Ccc>Tcc p.P367S TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.P367S|ZBTB22_uc021ywm.1_Missense_Mutation_p.P367S NM_005453 NP_005444 O15209 ZBT22_HUMAN Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA. 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 TTGTCTGGGGGCTCACTCAGG 0.577000 14 156 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110406220 110406220 + Missense_Mutation SNP A A T TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chrX:110406220A>T uc010npv.1 + 6 681 c.654A>T c.(652-654)gaA>gaT p.E218D PAK3_uc010npt.1_Missense_Mutation_p.E182D|PAK3_uc010npu.1_Missense_Mutation_p.E182D|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.E182D|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.E203D|PAK3_uc004epa.2_Missense_Mutation_p.E197D NM_001128168 NP_001121640 O75914 PAK3_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA. 197 Linker. multicellular organismal development ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity p.E182D(1)|p.E218D(1) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 aagaagaagaagatgaaAATG 0.403000 TSP Lung(19;0.15) 4 117 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962710 69962710 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr4:69962710G>A uc003heg.4 + 0 518 c.472G>A c.(472-474)Gag>Aag p.E158K UGT2B7_uc010ihq.3_Missense_Mutation_p.E158K NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 158 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TCCCTGTAGTGAGCTGCTGGC 0.368000 36 117 0 0 1 0 0 KBTBD10 10324 broad.mit.edu 37 2 170367185 170367185 + Silent SNP A A C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr2:170367185A>C uc002ueu.1 + 0 974 c.897A>C c.(895-897)ggA>ggC p.G299G KBTBD10_uc010zdh.1_Intron NM_006063 NP_006054 O60662 KBTBA_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA. 299 striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1) 19 CCAGGCATGGAATGTTTGTAA 0.473000 3 80 0 0 1 0 0 SRPR 6734 broad.mit.edu 37 11 126134958 126134958 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:126134958G>A uc001qdh.3 - 10 1599 c.1421C>T c.(1420-1422)gCc>gTc p.A474V SRPR_uc010sbm.2_Missense_Mutation_p.A446V NM_003139 NP_003130 P08240 SRPR_HUMAN Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA. 474 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) AGGGTGTAGGGCACTCAAACG 0.552000 3 49 0 0 1 0 0 ROCK1P1 727758 broad.mit.edu 37 18 120732 120732 + RNA SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr18:120732G>A uc002kke.3 + 4 c.970G>A Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), non-coding RNA. TTGTGGAATCGTGTGGGATGC 0.423000 4 54 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113241362 113241362 + Missense_Mutation SNP C C G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr1:113241362C>G uc001eck.3 + 16 2804 c.2534C>G c.(2533-2535)aCc>aGc p.T845S MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.T845S|MOV10_uc001ecm.3_Missense_Mutation_p.T785S NM_001130079 NP_066014 Q9HCE1 MOV10_HUMAN Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA. 845 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|RNA binding|helicase activity|protein binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TACTGCATCACCAAACTTGAC 0.557000 4 283 0 0 1 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254993 30254993 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chrX:30254993G>A uc004dca.2 + 4 1689 c.952G>A c.(952-954)Gtc>Atc p.V318I MAGEB3_uc022bug.1_Missense_Mutation_p.V318I NM_002365 NP_002356 O15480 MAGB3_HUMAN Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA. 318 p.V318V(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 GGAAGAAAGAGTCCAAGCTGC 0.502000 3 40 0 0 1 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70968592 70968592 + Missense_Mutation SNP C C G TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr10:70968592C>G uc001jpe.1 + 14 2217 c.2162C>G c.(2161-2163)aCt>aGt p.T721S SUPV3L1_uc010qjd.1_Missense_Mutation_p.T590S NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA. 721 Interaction with HBXIP, important for protein stability. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGTAAAGCTACTGAGCCACCC 0.537000 3 83 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53208567 53208567 + Missense_Mutation SNP G G C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr19:53208567G>C uc002pzz.3 - 6 2058 c.1741C>G c.(1741-1743)Ctt>Gtt p.L581V ZNF611_uc010eqc.3_Missense_Mutation_p.L511V|ZNF611_uc010ydo.2_Missense_Mutation_p.L511V|ZNF611_uc010ydp.2_Missense_Mutation_p.L581V|ZNF611_uc010ydq.2_Missense_Mutation_p.L581V|ZNF611_uc010ydr.2_Missense_Mutation_p.L512V|ZNF611_uc002qaa.4_Missense_Mutation_p.L511V|ZNF611_uc021uyy.1_Missense_Mutation_p.L512V NM_030972 NP_001154973 Q8N823 ZN611_HUMAN Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA. 581 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGGCATACAAGGTATGACCTG 0.438000 19 399 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37172827 37172827 + Missense_Mutation SNP G G C TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr7:37172827G>C uc022abv.1 - 13 1809 c.1099C>G c.(1099-1101)Cct>Gct p.P367A ELMO1_uc011kbc.2_Missense_Mutation_p.P271A|ELMO1_uc003tfk.2_Missense_Mutation_p.P367A|ELMO1_uc010kxg.2_Missense_Mutation_p.P367A NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 367 ELMO. Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TCCATGGCAGGGTTGACATGA 0.463000 32 71 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66807525 66807525 + Missense_Mutation SNP G G A TCGA-FK-A3SD-01A-11D-A22D-08 TCGA-FK-A3SD-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 29578759-9ccb-4a24-b5b8-c45ebd4339d9 5c09f3b8-8071-4e82-ab50-7e9cc41413fd g.chr11:66807525G>A uc009yrl.3 + 3 702 c.472G>A c.(472-474)Gtg>Atg p.V158M SYT12_uc001oju.3_Missense_Mutation_p.V158M NM_001177880 NP_808878 Q8IV01 SYT12_HUMAN Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA. 158 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 CCAGGTGGAGGTGAGCATGGA 0.627000 5 113 0 0 1 0 0