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 OR2C3 81472 broad.mit.edu 37 1 247695072 247695072 + Missense_Mutation SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr1:247695072C>T ENST00000366487.3 - 2 1103 c.742G>A c.(742-744)Gtg>Atg p.V248M GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGAGACACCACAGCCACGTGG 0.542000 39 78 0 0 1 0 0 HAVCR2 84868 broad.mit.edu 37 5 156535950 156535950 + Silent SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr5:156535950C>T ENST00000307851.4 - 1 775 c.45G>A c.(43-45)ctG>ctA p.L15L HAVCR2_ENST00000522593.1_Silent_p.L15L|CTB-120L21.1_ENST00000517708.1_RNA NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 15 integral to membrane p.L18delL(1)|p.L15L(1) cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TAAGTAGTAGCAGCAGCAGCA 0.443000 4 101 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211422 59211422 + Missense_Mutation SNP G G A TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr11:59211422G>A ENST00000302030.2 + 1 806 c.781G>A c.(781-783)Gtg>Atg p.V261M NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 AGCCCTTTTCGTGTACTTGCG 0.537000 100 144 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22562677 22562677 + Missense_Mutation SNP G G C TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr20:22562677G>C ENST00000419308.2 - 2 1387 c.1185C>G c.(1183-1185)caC>caG p.H395Q FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H401Q NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 395 Transactivation domain 2 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) TGTGGGGTtggtggtggtggt 0.612000 3 37 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185964003 185964003 + Missense_Mutation SNP G G T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr1:185964003G>T ENST00000271588.4 + 24 3791 c.3562G>T c.(3562-3564)Gtg>Ttg p.V1188L HMCN1_ENST00000367492.2_Missense_Mutation_p.V1188L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1188 Ig-like C2-type 9. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGGTCAAAGAGTGGATATTCC 0.413000 5 83 0.014758 0.014758 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 6 67 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18168088 18168088 + Silent SNP G G A TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr20:18168088G>A ENST00000278816.2 + 11 2984 c.2334G>A c.(2332-2334)ctG>ctA p.L778L CSRP2BP_ENST00000377681.2_Silent_p.L777L|CSRP2BP_ENST00000435364.2_Silent_p.L778L|CSRP2BP_ENST00000489634.2_Silent_p.L650L Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 778 N-acetyltransferase. histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 CATTCTTTCTGAGGCTCCGGC 0.413000 49 60 0 0 1 0 0 BNIP1 662 broad.mit.edu 37 5 172587005 172587005 + Silent SNP G G A TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr5:172587005G>A ENST00000231668.9 + 6 674 c.570G>A c.(568-570)agG>agA p.R190R BNIP1_ENST00000393770.4_Silent_p.R113R|BNIP1_ENST00000352523.6_Silent_p.R156R|BNIP1_ENST00000351486.5_Silent_p.R147R NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 147 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGATCAGCAGGATGATGGCCC 0.562000 84 118 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77885556 77885556 + Missense_Mutation SNP G G A TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr7:77885556G>A ENST00000354212.4 - 10 2004 c.1751C>T c.(1750-1752)cCg>cTg p.P584L MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L|MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L|MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 584 cell junction|synapse|synaptosome phosphatase binding p.P584L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ATGGACGGGCGGTGGATACGT 0.527000 3 54 0 0 1 0 0 PPAN 56342 broad.mit.edu 37 19 10224314 10224314 + Nonsense_Mutation SNP A A T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr19:10224314A>T ENST00000556468.1 + 13 1312 c.1285A>T c.(1285-1287)Aag>Tag p.K429* PPAN-P2RY11_ENST00000428358.1_Silent_p.P449P|PPAN-P2RY11_ENST00000393796.4_Nonsense_Mutation_p.K429*|P2RY11_ENST00000321826.4_Nonsense_Mutation_p.K9*|P2RY11_ENST00000471843.1_3'UTR peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CACAGGTGCCAAGTCCTGCCC 0.617000 OREG0025230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 23 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68337357 68337357 + Silent SNP T T C TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr11:68337357T>C ENST00000393799.2 + 11 1537 c.1270T>C c.(1270-1272)Tta>Cta p.L424L PPP6R3_ENST00000265637.4_Silent_p.L424L|PPP6R3_ENST00000393801.3_Silent_p.L424L|PPP6R3_ENST00000534534.1_Silent_p.L192L|PPP6R3_ENST00000529710.1_Silent_p.L373L|PPP6R3_ENST00000527403.2_Silent_p.L424L|PPP6R3_ENST00000524904.1_Silent_p.L424L|PPP6R3_ENST00000265636.5_Silent_p.L373L|PPP6R3_ENST00000393800.2_Silent_p.L424L|PPP6R3_ENST00000524845.1_Silent_p.L424L Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 424 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TAATTTGTTATTAAAACATGT 0.373000 64 77 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 5 157 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3209830 3209830 + Silent SNP G G A TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr20:3209830G>A ENST00000380059.3 - 16 2159 c.2058C>T c.(2056-2058)agC>agT p.S686S SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.S659S|SLC4A11_ENST00000539553.1_Silent_p.S643S NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 659 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 CCATGGCACCGCTGACGGCCC 0.617000 6 58 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr3:178936095A>G ENST00000263967.3 + 10 1794 c.1637A>G c.(1636-1638)cAg>cGg p.Q546R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 546 PI3K helical. Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Q546R(30)|p.Q546P(18)|p.Q546L(5) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATCACTGAGCAGGAGAAAGAT 0.363000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 13 31 0 0 1 0 0 SLC25A38 54977 broad.mit.edu 37 3 39432956 39432956 + Missense_Mutation SNP G G A TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr3:39432956G>A ENST00000273158.4 + 4 678 c.301G>A c.(301-303)Gtt>Att p.V101I NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 101 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGTCCCTGGCGTTGGAATCTA 0.488000 9 558 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1270916 1270916 + Missense_Mutation SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr11:1270916C>T ENST00000447027.1 + 31 12873 c.12815C>T c.(12814-12816)cCg>cTg p.P4272L MUC5B_ENST00000529681.1_Missense_Mutation_p.P4269L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4269 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACGGCCACCCCGTCCTCCACC 0.642000 42 162 0 0 1 0 0 FGFR2 2263 broad.mit.edu 37 10 123256167 123256167 + Missense_Mutation SNP G G T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr10:123256167G>T ENST00000358487.5 - 13 2014 c.1742C>A c.(1741-1743)cCa>cAa p.P581Q FGFR2_ENST00000360144.3_Missense_Mutation_p.P493Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.P579Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.P353Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.P469Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.P492Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.P582Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.P464Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.P467Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.P465Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.P579Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.P582Q NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 581 Protein kinase. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CATCCCGGGTGGCCTCCGGGC 0.532000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 57 73 9.16383e-17 9.37695e-17 1 1 0 OR7D2 162998 broad.mit.edu 37 19 9296887 9296887 + Silent SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr19:9296887C>T ENST00000344248.2 + 1 609 c.430C>T c.(430-432)Ctg>Ttg p.L144L NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 144 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 CTGTGGCCTCCTGGTTTTTGT 0.478000 19 187 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642351 156642351 + Silent SNP T T C TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr1:156642351T>C ENST00000368223.3 - 4 1761 c.1629A>G c.(1627-1629)aaA>aaG p.K543K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 543 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCAGGGTTTCTTTTTCCAAAG 0.468000 5 38 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 16 52 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104160083 104160083 + Missense_Mutation SNP T T C TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr10:104160083T>C ENST00000369966.3 + 16 1883 c.1633T>C c.(1633-1635)Ttt>Ctt p.F545L NFKB2_ENST00000189444.6_Missense_Mutation_p.F545L|NFKB2_ENST00000428099.1_Missense_Mutation_p.F545L NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 545 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) TGTGGTGAGCTTTCTGCTGCG 0.652000 T IGH@ B-NHL 3 114 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468232 35468232 + Silent SNP A A G TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr21:35468232A>G ENST00000381151.3 + 2 1247 c.735A>G c.(733-735)aaA>aaG p.K245K MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 245 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CCCCTAAGAAAGAAGCCCTGA 0.453000 49 74 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 5 9 0 0 1 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16852148 16852148 + Missense_Mutation SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr17:16852148C>T ENST00000437538.2 - 2 219 c.211G>A c.(211-213)Gag>Aag p.E71K TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E71K O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 117 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 CTCCTGAGCTCTGGTGGAAGG 0.522000 IgA Deficiency, Selective 71 105 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143623472 143623472 + Missense_Mutation SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr8:143623472C>T ENST00000517894.1 + 28 4771 c.3877C>T c.(3877-3879)Cgc>Tgc p.R1293C BAI1_ENST00000323289.5_Missense_Mutation_p.R1293C O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1293 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CGGCTCACCCCGCTATCCCGG 0.652000 3 32 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501843 90501843 + Missense_Mutation SNP G G A TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr9:90501843G>A ENST00000325643.5 + 4 2507 c.2441G>A c.(2440-2442)gGg>gAg p.G814E NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 TGGAGGGGTGGGAAAGCCCAC 0.572000 22 18 0 0 1 0 0 CNBD2 140894 broad.mit.edu 37 20 34618499 34618499 + Missense_Mutation SNP T T C TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr20:34618499T>C ENST00000373973.3 + 12 1833 c.1660T>C c.(1660-1662)Tac>Cac p.Y554H CNBD2_ENST00000349339.1_Missense_Mutation_p.Y550H|CNBD2_ENST00000538900.1_3'UTR cyclic nucleotide binding domain containing 2 ACCCCAGAAATACCTCCCCCC 0.463000 133 168 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78591057 78591057 + Missense_Mutation SNP G G A TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr12:78591057G>A ENST00000397909.2 + 35 6495 c.6322G>A c.(6322-6324)Gaa>Aaa p.E2108K NAV3_ENST00000536525.2_Missense_Mutation_p.E2086K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1909K|NAV3_ENST00000228327.6_Missense_Mutation_p.E2086K Q8IVL0 NAV3_HUMAN neuron navigator 3 2108 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TAACCTGGCTGAACAGTGCAG 0.338000 HNSCC(70;0.22) 3 43 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40656656 40656656 + Missense_Mutation SNP G G A TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr15:40656656G>A ENST00000267889.3 + 4 601 c.514G>A c.(514-516)Gtg>Atg p.V172M NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 172 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) GCCAGTGGCCGTGCTGATGCT 0.602000 4 139 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67941292 67941292 + Missense_Mutation SNP T T C TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr11:67941292T>C ENST00000304363.4 - 6 985 c.632A>G c.(631-633)aAa>aGa p.K211R SUV420H1_ENST00000405515.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402789.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402185.2_Missense_Mutation_p.K188R|SUV420H1_ENST00000401547.2_Missense_Mutation_p.K211R NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 211 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TGCAACTATTTTGGCTCCATT 0.299000 6 63 0 0 1 0 0 SHBG 6462 broad.mit.edu 37 17 7535330 7535330 + Silent SNP T T C TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr17:7535330T>C ENST00000380450.4 + 6 880 c.849T>C c.(847-849)gaT>gaC p.D283D SHBG_ENST00000576478.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Silent_p.D225D|SHBG_ENST00000576728.1_Silent_p.D171D|SHBG_ENST00000575314.1_Silent_p.D225D|SHBG_ENST00000575903.1_Silent_p.D265D|SHBG_ENST00000340624.5_Silent_p.D225D|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000416273.3_Silent_p.D283D|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000572262.1_Silent_p.D171D NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 283 Laminin G-like 2. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) ACCTCCAAGATCAAGTAAAGG 0.542000 21 120 0 0 1 0 0 CTD-2369P2.10 0 broad.mit.edu 37 19 10421614 10421614 + Missense_Mutation SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr19:10421614C>T ENST00000452032.2 - 4 322 c.310G>A c.(310-312)Gcc>Acc p.A104T FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000541276.1_Missense_Mutation_p.A107T|FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000393708.3_Missense_Mutation_p.A104T GCTTCACAGGCCCCTAGGGGT 0.617000 8 38 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 14 0 0 1 0 0 SAA4 6291 broad.mit.edu 37 11 18253209 18253209 + Missense_Mutation SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr11:18253209C>T ENST00000278222.4 - 4 413 c.233G>A c.(232-234)cGt>cAt p.R78H SAA2-SAA4_ENST00000524555.1_RNA NM_006512.3 NP_006503.2 serum amyloid A4, constitutive haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1) 13 GACCCTGGAACGGCTGCAACC 0.488000 16 31 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5979128 5979128 + Missense_Mutation SNP G G A TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr10:5979128G>A ENST00000379999.5 + 22 3274 c.3170G>A c.(3169-3171)cGc>cAc p.R1057H RP11-536K7.3_ENST00000397264.3_RNA|FBXO18_ENST00000362091.4_Missense_Mutation_p.R1006H|FBXO18_ENST00000379994.1_Intron|FBXO18_ENST00000397269.3_Missense_Mutation_p.R510H NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 1006 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GCGGAGCAGCGCATCGGGCCC 0.622000 12 27 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123901193 123901193 + Silent SNP C C T TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr11:123901193C>T ENST00000431524.1 + 1 897 c.864C>T c.(862-864)acC>acT p.T288T NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TTGTGTACACCCTGAGGAACA 0.468000 7 77 0 0 1 0 0 RP11-343N15.1 0 broad.mit.edu 37 1 121137803 121137805 + RNA DEL CCA CCA - rs60375635 by1000genomes TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr1:121137803_121137805delCCA ENST00000437515.1 - 0 329 ACCGCCGCCGCCACGGCTTTTTG 0.645 2 4 --- --- --- --- PTX3 5806 broad.mit.edu 37 3 157154729 157154731 + In_Frame_Del DEL CTC CTC - TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr3:157154729_157154731delCTC ENST00000295927.3 + 1 152_154 c.7_9delCTC c.(7-9)del p.L4del VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron NM_002852.3 NP_002843.2 P26022 PTX3_HUMAN pentraxin 3, long 4 inflammatory response extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1) 10 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) AGCAATGCATCTCCTTGCGATTC 0.493 64 97 --- --- --- --- SH3RF1 57630 broad.mit.edu 37 4 170017683 170017690 + Frame_Shift_Del DEL ACAAAGCT ACAAAGCT - TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr4:170017683_170017690delACAAAGCT ENST00000284637.9 - 12 2988_2995 c.2647_2654delAGCTTTGT c.(2647-2655)gfs p.SFV883fs NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 883 SH3 4. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TATGTTTTCCACAAAGCTTCCTGGGAAA 0.389 9 77 --- --- --- --- OR4A15 81328 broad.mit.edu 37 11 55136117 55136118 + Frame_Shift_Del DEL TT TT - TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr11:55136117_55136118delTT ENST00000314706.3 + 1 758_759 c.758_759delTT c.(757-759)cfs p.L253fs NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TTACACTCTCTTAAGACTCAGA 0.436 7 80 --- --- --- --- AC005301.8 0 broad.mit.edu 37 22 17229222 17229223 + RNA DEL CC CC - TCGA-HT-7692-01A-12D-2253-08 TCGA-HT-7692-10A-01D-2253-08 Untested Somatic Phase_I WXS none Illumina GAIIx eaa6dbfa-6641-4162-a34d-6718781793bc 4a5299fe-a61f-4e0d-9e89-bc7874cff10e g.chr22:17229222_17229223delCC ENST00000422917.1 - 0 312_313 tccccggactccgtctgctgtt 0.639 3 5 --- --- --- ---