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 PFKL 5211 broad.mit.edu 37 21 45726635 45726635 + Missense_Mutation SNP G G A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr21:45726635G>A ENST00000403390.1 + 3 298 c.298G>A c.(298-300)Gag>Aag p.E100K PFKL_ENST00000349048.4_Missense_Mutation_p.E53K|PFKL_ENST00000496824.1_3'UTR P17858 K6PL_HUMAN phosphofructokinase, liver 53 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) CCTCATCTACGAGGTAAGGCC 0.607000 19 28 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195512148 195512148 + Missense_Mutation SNP G G C TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr3:195512148G>C ENST00000463781.3 - 2 6762 c.6303C>G c.(6301-6303)gaC>gaG p.D2101E MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2101E NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 874 EGF-like 2. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGAGGAAGCGTCGGTGACAA 0.567000 3 12 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132527130 132527130 + Missense_Mutation SNP T T C TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr11:132527130T>C ENST00000331898.7 - 2 830 c.252A>G c.(250-252)atA>atG p.I84M OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.I43M|OPCML_ENST00000524381.1_Missense_Mutation_p.I77M|OPCML_ENST00000541867.1_Missense_Mutation_p.I84M NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 84 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CACGAGGGTCTATGGACCACT 0.542000 23 166 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75331188 75331188 + Silent SNP G G A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr10:75331188G>A ENST00000339859.4 - 3 331 c.231C>T c.(229-231)tgC>tgT p.C77C USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C|USP54_ENST00000394811.2_5'UTR Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 77 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CCTTGAGAGCGCAAAAGATGC 0.433000 4 147 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5112572 5112572 + Missense_Mutation SNP C C T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr7:5112572C>T ENST00000407184.1 + 8 721 c.455C>T c.(454-456)aCg>aTg p.T152M RBAK_ENST00000396904.2_3'UTR|RBAK_ENST00000498308.1_3'UTR Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 0 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) CTGGCGGAGACGGAGAGCTGC 0.662000 5 149 0 0 1 0 0 GSTM2 2946 broad.mit.edu 37 1 110210764 110210764 + Silent SNP C C T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr1:110210764C>T ENST00000369831.2 + 1 121 c.27C>T c.(25-27)aaC>aaT p.N9N GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000442650.1_Silent_p.N9N|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000369829.2_Silent_p.N9N|GSTM2_ENST00000460717.3_Silent_p.N9N|GSTM2_ENST00000241337.4_Silent_p.N9N|GSTM2_ENST00000369827.3_Silent_p.N7N glutathione S-transferase mu 2 (muscle) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) GGTACTGGAACATCCGCGGGG 0.677000 29 29 0 0 1 0 0 GNB3 2784 broad.mit.edu 37 12 6950780 6950780 + Missense_Mutation SNP C C G TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr12:6950780C>G ENST00000229264.3 + 4 493 c.88C>G c.(88-90)Ctg>Gtg p.L30V GNB3_ENST00000435982.2_Missense_Mutation_p.L30V NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 30 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 TGACGTTACTCTGGCAGAGGT 0.642000 3 31 0 0 1 0 0 AMT 275 broad.mit.edu 37 3 49459637 49459637 + Missense_Mutation SNP G G A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr3:49459637G>A ENST00000273588.3 - 2 460 c.158C>T c.(157-159)gCg>gTg p.A53V AMT_ENST00000546031.1_Intron|AMT_ENST00000458307.2_Missense_Mutation_p.A53V|AMT_ENST00000395338.2_Missense_Mutation_p.A53V|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Intron NM_000481.3 NP_000472.2 P48728 GCST_HUMAN aminomethyltransferase 53 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ACTCCAACCCGCAAACGCCAC 0.627000 5 302 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22563390 22563390 + Missense_Mutation SNP C C T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr20:22563390C>T ENST00000419308.2 - 2 674 c.472G>A c.(472-474)Gca>Aca p.A158T FOXA2_ENST00000377115.4_Missense_Mutation_p.A158T|FOXA2_ENST00000319993.4_Missense_Mutation_p.A164T NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 158 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) GGCGGCTTTGCGTGCGTGTAG 0.627000 4 209 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33464075 33464075 + Missense_Mutation SNP C C T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr9:33464075C>T ENST00000379471.2 - 22 2951 c.2864G>A c.(2863-2865)cGc>cAc p.R955H NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R903H Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 955 rRNA processing condensed nuclear chromosome|nucleolus RNA binding p.R955H(1) endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGAGTTTTTGCGGTCTTGGGG 0.567000 5 239 0 0 1 0 0 PDGFC 56034 broad.mit.edu 37 4 157771503 157771503 + Missense_Mutation SNP T T C TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr4:157771503T>C ENST00000502773.1 - 2 674 c.184A>G c.(184-186)Agg>Ggg p.R62G PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Missense_Mutation_p.R62G NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 62 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) TGAGGAAACCTTGGGCTGTGA 0.358000 49 57 0 0 1 0 0 NHLRC2 374354 broad.mit.edu 37 10 115664616 115664616 + Missense_Mutation SNP C C T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr10:115664616C>T ENST00000369301.3 + 10 1957 c.1745C>T c.(1744-1746)cCg>cTg p.P582L NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 582 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) GTAGATGGCCCGTTCCTAGTA 0.408000 29 82 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20169960 20169960 + RNA SNP G G A rs150674714 by1000genomes TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr15:20169960G>A ENST00000338912.5 - 0 311 CAGATCTCAGGCTGCTTAGCT 0.527000 5 509 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70819927 70819927 + Missense_Mutation SNP G G A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr5:70819927G>A ENST00000358731.4 + 25 5812 c.5549G>A c.(5548-5550)cGg>cAg p.R1850Q BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1850 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAACGAGTTCGGGGTAAGACC 0.453000 4 163 0 0 1 0 0 SCRT1 83482 broad.mit.edu 37 8 145556985 145556985 + Silent SNP G G A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr8:145556985G>A ENST00000332135.4 - 2 1020 c.909C>T c.(907-909)caC>caT p.H303H NM_031309.4 NP_112599.1 Q9BWW7 SCRT1_HUMAN scratch family zinc finger 1 303 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|upper_aerodigestive_tract(1) 3 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TGCACTGGAAGTGCTTGAAGG 0.652000 12 24 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167849749 167849749 + Silent SNP G G A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr1:167849749G>A ENST00000367848.1 - 10 1340 c.843C>T c.(841-843)tgC>tgT p.C281C ADCY10_ENST00000545172.1_Silent_p.C220C|ADCY10_ENST00000367851.4_Silent_p.C373C Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 373 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 GGACTTGAGAGCAGAAGTCAA 0.517000 9 126 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 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 56 100 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59560289 59560289 + Silent SNP C C T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr17:59560289C>T ENST00000393853.4 + 9 1216 c.1053C>T c.(1051-1053)tgC>tgT p.C351C TBX4_ENST00000240335.1_Silent_p.C350C|TBX4_ENST00000589449.1_3'UTR P57082 TBX4_HUMAN T-box 4 350 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ACTTACCTTGCAAGCGATCCT 0.567000 16 25 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2297883 2297883 + Missense_Mutation SNP T T C TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr20:2297883T>C ENST00000381458.5 + 6 902 c.839T>C c.(838-840)cTc>cCc p.L280P TGM3_ENST00000463090.1_3'UTR NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 280 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GCTGGGACCCTCAACACAGGT 0.577000 4 209 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950470 198950470 + Silent SNP G G A rs142477843 TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr2:198950470G>A ENST00000428675.1 + 2 2627 c.2229G>A c.(2227-2229)ggG>ggA p.G743G PLCL1_ENST00000437704.2_Silent_p.G645G NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 743 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GTGCCAAAGGGGATGTCATAG 0.433000 14 165 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75276756 75276756 + Missense_Mutation SNP G G A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr16:75276756G>A ENST00000546196.1 - 2 1810 c.158C>T c.(157-159)cCg>cTg p.P53L BCAR1_ENST00000162330.5_Missense_Mutation_p.P82L|BCAR1_ENST00000420641.3_Missense_Mutation_p.P100L|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000418647.3_Missense_Mutation_p.P128L|BCAR1_ENST00000542031.2_Missense_Mutation_p.P80L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P82L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P100L|BCAR1_ENST00000538440.2_Missense_Mutation_p.P82L P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 82 SH3. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) AGGCTGGGCCGGGGTGGCGGG 0.687000 4 91 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110895028 110895028 + Silent SNP T T C TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr13:110895028T>C ENST00000375820.4 - 2 259 c.138A>G c.(136-138)ggA>ggG p.G46G COL4A1_ENST00000543140.1_Silent_p.G46G NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 46 angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TCACCTTTTGTCCCTTCACTC 0.403000 195 304 0 0 1 0 0 PHOX2B 8929 broad.mit.edu 37 4 41750611 41750611 + Missense_Mutation SNP T T C TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr4:41750611T>C ENST00000226382.2 - 1 376 c.17A>G c.(16-18)tAt>tGt p.Y6C RP11-227F19.1_ENST00000508038.1_RNA NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 6 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 GAGGTAAGAATATTCCATTTT 0.483000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 9 64 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 92 0.150653 0.150653 1 1 0 SPP1 6696 broad.mit.edu 37 4 88898248 88898248 + Splice_Site SNP A A T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr4:88898248A>T ENST00000237623.7 + 3 240 c.93_splice c.e3+1 p.Q31_splice SPP1_ENST00000395080.3_Splice_Site_p.Q31_splice|SPP1_ENST00000360804.4_Splice_Site_p.Q31_splice|SPP1_ENST00000509659.1_3'UTR NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 31 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) GAGGAAAAGCAGGTAAGCATC 0.358000 54 104 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197061121 197061121 + Missense_Mutation SNP A A T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr1:197061121A>T ENST00000367409.4 - 22 9616 c.9360T>A c.(9358-9360)aaT>aaA p.N3120K ASPM_ENST00000367408.1_Missense_Mutation_p.N785K|ASPM_ENST00000294732.7_Missense_Mutation_p.N1535K NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3120 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TTCTAACAGCATTCAGGTGAT 0.363000 10 144 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66765616 66765616 + Missense_Mutation SNP A A G TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chrX:66765616A>G ENST00000374690.3 + 1 1152 c.628A>G c.(628-630)Aga>Gga p.R210G AR_ENST00000396044.3_Missense_Mutation_p.R210G|AR_ENST00000504326.1_Missense_Mutation_p.R210G|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 208 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CAGCAGCGGGAGAGCGAGGGA 0.577000 Androgen Insensitivity Syndrome 3 33 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 160980358 160980358 + Missense_Mutation SNP C C T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr2:160980358C>T ENST00000283249.2 - 12 2162 c.1925G>A c.(1924-1926)cGa>cAa p.R642Q ITGB6_ENST00000409872.1_Missense_Mutation_p.R642Q|ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000428609.2_Missense_Mutation_p.R600Q P18564 ITB6_HUMAN integrin, beta 6 642 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 ACATTCTTCTCGGGCTTGGCC 0.453000 21 146 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23117744 23117744 + Missense_Mutation SNP G G A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr8:23117744G>A ENST00000397677.1 + 10 1856 c.1208G>A c.(1207-1209)cGc>cAc p.R403H CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.R403H NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 403 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GACAACCCCCGCAATAGGCAT 0.463000 4 207 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1375272 1375272 + Silent SNP C C T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr17:1375272C>T ENST00000359786.5 - 19 2274 c.1950G>A c.(1948-1950)ggG>ggA p.G650G MYO1C_ENST00000361007.2_Silent_p.G615G|MYO1C_ENST00000545534.2_Silent_p.G626G|MYO1C_ENST00000438665.2_Silent_p.G631G|MYO1C_ENST00000575158.1_Silent_p.G615G NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 650 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP 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) TTTCCAACAGCCCCAGGTACT 0.657000 14 216 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43316423 43316423 + Missense_Mutation SNP C C A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr18:43316423C>A ENST00000321925.4 + 6 705 c.473C>A c.(472-474)cCa>cAa p.P158Q SLC14A1_ENST00000436407.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000589700.1_Missense_Mutation_p.P158Q|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P26Q|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P50Q|SLC14A1_ENST00000402943.2_Missense_Mutation_p.P53Q|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P158Q|RP11-116O18.3_ENST00000589510.1_RNA NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 158 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 TTTTTTAGCCCAATTTTCTCA 0.473000 4 220 3.59834e-05 3.68829e-05 1 1 0 TMEM62 80021 broad.mit.edu 37 15 43473409 43473409 + Missense_Mutation SNP G G A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr15:43473409G>A ENST00000260403.2 + 13 1796 c.1517G>A c.(1516-1518)gGc>gAc p.G506D EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR NM_024956.3 NP_079232.3 Q0P6H9 TMM62_HUMAN transmembrane protein 62 506 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) ATCATTGATGGCAAATTTGGT 0.338000 5 367 0 0 1 0 0 MARCKSL1 65108 broad.mit.edu 37 1 32800637 32800637 + Missense_Mutation SNP G G A TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr1:32800637G>A ENST00000329421.7 - 2 494 c.149C>T c.(148-150)cCt>cTt p.P50L NM_023009.6 NP_075385.1 P49006 MRP_HUMAN MARCKS-like 1 50 plasma membrane calmodulin binding breast(1)|large_intestine(3)|lung(1)|ovary(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TCCGTTCACAGGGGGCGACTC 0.642000 78 31 0 0 1 0 0 FRRS1 391059 broad.mit.edu 37 1 100194159 100194159 + Missense_Mutation SNP C C T TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr1:100194159C>T ENST00000414213.1 - 9 1497 c.896G>A c.(895-897)gGt>gAt p.G299D FRRS1_ENST00000287474.5_Missense_Mutation_p.G299D Q6ZNA5 FRRS1_HUMAN ferric-chelate reductase 1 299 DOMON. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 26 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) CTGCATAACACCGTCCGCCAA 0.393000 58 35 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32475056 32475056 + Frame_Shift_Del DEL T T - TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr2:32475056delT ENST00000404025.2 - 5 2365 c.1877delA c.(1876-1878)agfs p.K626fs NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 626 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTCTGCAGCCTTTTCCCATGA 0.458 7 462 --- --- --- --- MUC4 4585 broad.mit.edu 37 3 195512373 195512374 + In_Frame_Ins INS - - GAT rs63118461 by1000genomes TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr3:195512373_195512374insGAT ENST00000463781.3 - 2 6536_6537 c.6077_6078insATC c.(6076-6078)tac>tATCac p.2026_2027insH MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 798 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.S2026_T2027insS(3) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTCACCAGTGGATGCTGAGGA 0.579 3 3 --- --- --- --- MFAP3L 9848 broad.mit.edu 37 4 170926744 170926746 + In_Frame_Del DEL CTT CTT - TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr4:170926744_170926746delCTT ENST00000361618.3 - 2 590_592 c.283_285delAAG c.(283-285)del p.K95del MFAP3L_ENST00000393702.3_In_Frame_Del_p.K95del|MFAP3L_ENST00000506110.1_In_Frame_Del_p.K95del NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 95 Ig-like C2-type. integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) CTCCTCTCTCCTTCTCATCCTCT 0.424 22 416 --- --- --- --- FAM66E 0 broad.mit.edu 37 8 7829133 7829134 + RNA DEL TG TG - TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr8:7829133_7829134delTG ENST00000533615.1 + 0 1153 tatttgtgtttgtgtgtgtgtg 0.490 3 4 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413070 139413072 + In_Frame_Del DEL AGA AGA - TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr9:139413070_139413072delAGA ENST00000277541.6 - 6 1145_1147 c.1070_1072delTCT c.(1069-1074)tac>t p.FY357del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 357 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.F357delF(4) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACTCGCAGTAGAAGGAGGCCAC 0.655 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 10 32 --- --- --- --- KCNIP2 30819 broad.mit.edu 37 10 103589642 103589642 + Frame_Shift_Del DEL G G - TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr10:103589642delG ENST00000356640.2 - 3 457 c.182delC c.(181-183)cafs p.P61fs KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000358038.3_Intron|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000348850.5_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000461105.1_Frame_Shift_Del_p.P76fs NM_014591.4|NM_173191.2 NP_055406.2|NP_775283.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 61 clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) GAGGGAGGCTGGGGCGGCTAA 0.667 2 4 --- --- --- --- SLC7A7 9056 broad.mit.edu 37 14 23242852 23242856 + Frame_Shift_Del DEL CTCTC CTCTC - TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr14:23242852_23242856delCTCTC ENST00000397532.3 - 10 2024_2028 c.1499_1503delGAGAG c.(1498-1503)gfs p.GE500fs SLC7A7_ENST00000285850.7_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000555702.1_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000554517.1_Frame_Shift_Del_p.GE234fs|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000397528.4_Frame_Shift_Del_p.GE500fs Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 500 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) GCTTGGGCATCTCTCCTCCATCTTC 0.473 20 72 --- --- --- --- ZC3H18 124245 broad.mit.edu 37 16 88677692 88677695 + Frame_Shift_Del DEL GAGA GAGA - rs145094173 TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr16:88677692_88677695delGAGA ENST00000301011.5 + 8 1423_1426 c.1223_1226delGAGA c.(1222-1227)cgfs p.RE410fs ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.RE434fs NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 410 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) gagcgggagcgagagagagagaac 0.647 10 56 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42798857 42798858 + Frame_Shift_Del DEL CT CT - TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr19:42798857_42798858delCT ENST00000572681.2 + 20 7215_7216 c.7147_7148delCT c.(7147-7149)cfs p.L2383fs CIC_ENST00000575354.2_Frame_Shift_Del_p.L1477fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.L1475fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 1477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGTCATGCAGCTCTTTCAGGAC 0.604 """Mis, F, S""" oligodendroglioma 74 50 --- --- --- --- ZNF335 63925 broad.mit.edu 37 20 44579160 44579162 + In_Frame_Del DEL CTT CTT - TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr20:44579160_44579162delCTT ENST00000322927.2 - 21 3362_3364 c.3262_3264delAAG c.(3262-3264)del p.K1088del ZNF335_ENST00000426788.1_In_Frame_Del_p.K933del NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1088 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GACGCAGGTCCTTCTTGTTCTTG 0.601 34 376 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 4 3 --- --- --- --- APP 351 broad.mit.edu 37 21 27394182 27394184 + In_Frame_Del DEL GTG GTG - TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr21:27394182_27394184delGTG ENST00000358918.3 - 6 1036_1038 c.837_839delCAC c.(835-840)aca>ac p.TT279del APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 279 Poly-Thr. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CACAGACTCTgtggtggtggtgg 0.522 7 78 --- --- --- --- KIAA0930 23313 broad.mit.edu 37 22 45601748 45601749 + Frame_Shift_Ins INS - - G TCGA-S9-A6U5-01A-12D-A33T-08 TCGA-S9-A6U5-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6638014a-2392-40ed-b0e1-0d44f1df57ba 85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5 g.chr22:45601748_45601749insG ENST00000336156.4 - 3 326_327 c.261_262insC c.(259-264)tcagaafs p.E88fs KIAA0930_ENST00000251993.7_Frame_Shift_Ins_p.E93fs|KIAA0930_ENST00000391627.2_Frame_Shift_Ins_p.E54fs|KIAA0930_ENST00000443310.3_Frame_Shift_Ins_p.E70fs NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 88 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 GGCAGCTTCTTGGAGTCCCGCC 0.634 55 60 --- --- --- ---