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 GPR112 139378 broad.mit.edu 37 X 135431586 135431586 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chrX:135431586G>A ENST00000394143.1 + 6 6012 c.5721G>A c.(5719-5721)atG>atA p.M1907I GPR112_ENST00000412101.1_Missense_Mutation_p.M1702I|GPR112_ENST00000394141.1_Missense_Mutation_p.M1702I|GPR112_ENST00000370652.1_Missense_Mutation_p.M1907I|GPR112_ENST00000287534.4_Missense_Mutation_p.M1844I NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1907 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCAATGAGATGGAAACAGAGA 0.433000 16 91 0 0 0.004007 0 0 C8A 731 broad.mit.edu 37 1 57341848 57341848 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:57341848G>A ENST00000361249.3 + 4 526 c.430G>A c.(430-432)Gaa>Aaa p.E144K NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 144 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CAGCCAGTATGAACCAATTCC 0.507000 14 49 0 0 0.003163 0 0 KCNC1 3746 broad.mit.edu 37 11 17793228 17793228 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr11:17793228C>T ENST00000379472.3 + 2 617 c.587C>T c.(586-588)tCc>tTc p.S196F KCNC1_ENST00000265969.6_Missense_Mutation_p.S196F NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 196 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GCCTTCGCTTCCCTCTTCTTC 0.577000 11 50 0 0 0.008291 0 0 NANOG 79923 broad.mit.edu 37 12 7947128 7947128 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr12:7947128G>A ENST00000229307.4 + 3 709 c.490G>A c.(490-492)Ggt>Agt p.G164S NANOG_ENST00000526286.1_Missense_Mutation_p.G164S NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 164 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) GAATAGCAATGGTGTGACGCA 0.423000 5 10 0 0 0.000602 0 0 ARHGAP8 23779 broad.mit.edu 37 22 45243920 45243920 + Silent SNP C C T rs139004299 by1000genomes TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr22:45243920C>T ENST00000517296.3 + 14 1368 c.1368C>T c.(1366-1368)ctC>ctT p.L456L ARHGAP8_ENST00000389774.2_Silent_p.L277L|ARHGAP8_ENST00000336963.4_Silent_p.L246L|ARHGAP8_ENST00000356099.6_Silent_p.L246L|ARHGAP8_ENST00000389773.5_Silent_p.L368L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L377L|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.L456L Rho GTPase activating protein 8 breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7) 29 all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649) UCEC - Uterine corpus endometrioid carcinoma (28;0.0204) TCCAGAGGCTCTACAACCAAG 0.682000 8 31 0 0 0.003080 0 0 MSI1 4440 broad.mit.edu 37 12 120794704 120794704 + Splice_Site SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr12:120794704C>T ENST00000257552.2 - 9 741 c.e9+1 MSI1_ENST00000546622.1_Splice_Site NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCGCGCATACCCAGCATGCC 0.642000 OREG0022190 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 53 0 0 0.001168 0 0 MPP1 4354 broad.mit.edu 37 X 154020428 154020428 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chrX:154020428C>T ENST00000413259.3 - 3 537 c.145G>A c.(145-147)Gaa>Aaa p.E49K MPP1_ENST00000369534.3_Missense_Mutation_p.E79K|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Missense_Mutation_p.E79K NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 79 regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATGGGCTCTTCTGTGACCTTC 0.567000 19 81 0 0 0.008871 0 0 OR4A5 81318 broad.mit.edu 37 11 51411637 51411637 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr11:51411637G>A ENST00000319760.6 - 1 811 c.759C>T c.(757-759)ttC>ttT p.F253F NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TAACATATATGAAAATACAGG 0.393000 4 28 0 0 0.009096 0 0 MEP1A 4224 broad.mit.edu 37 6 46800998 46800998 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr6:46800998C>T ENST00000230588.4 + 11 1341 c.1332C>T c.(1330-1332)gtC>gtT p.V444V NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 444 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) TCTCCCAAGTCCTTGAGAACA 0.493000 24 55 0 0 0.003954 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 49 0 0 0.000602 0 0 KLHL20 27252 broad.mit.edu 37 1 173744862 173744862 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:173744862G>A ENST00000209884.4 + 10 1655 c.1519G>A c.(1519-1521)Gac>Aac p.D507N KLHL20_ENST00000546011.1_Missense_Mutation_p.D318N NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 507 cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 AGTATATCAGGACATGATCTA 0.507000 10 89 0 0 0.008291 0 0 NEURL4 84461 broad.mit.edu 37 17 7226330 7226330 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr17:7226330G>A ENST00000399464.2 - 15 2545 c.2530C>T c.(2530-2532)Ctg>Ttg p.L844L NEURL4_ENST00000570460.1_Silent_p.L822L|NEURL4_ENST00000315614.7_Silent_p.L844L NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AAGTAGTGCAGGTCGCCCTTG 0.597000 5 35 0 0 0.000602 0 0 DOCK2 1794 broad.mit.edu 37 5 169454944 169454944 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr5:169454944G>A ENST00000256935.8 + 34 3539 c.3459G>A c.(3457-3459)ctG>ctA p.L1153L DOCK2_ENST00000520908.1_Silent_p.L645L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.L214L NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1153 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGCAGCTCCTGGAGTCAATGT 0.547000 8 48 0 0 0.004482 0 0 C12orf36 283422 broad.mit.edu 37 12 13526307 13526307 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr12:13526307C>T ENST00000318426.2 - 3 465 c.248G>A c.(247-249)tGg>tAg p.W83* C12orf36_ENST00000527705.2_Nonsense_Mutation_p.W83* chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) TCGTGCAATCCAGCAGAATGT 0.473000 15 66 0 0 0.003163 0 0 GTSE1 51512 broad.mit.edu 37 22 46708187 46708187 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr22:46708187C>T ENST00000454366.1 + 5 1124 c.912C>T c.(910-912)atC>atT p.I304I NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 285 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) AGCGGGCGATCCCTGTTCCAA 0.582000 6 39 0 0 0.003080 0 0 NOVA1 4857 broad.mit.edu 37 14 26918050 26918050 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr14:26918050C>T ENST00000539517.2 - 5 956 c.639G>A c.(637-639)ggG>ggA p.G213G NOVA1_ENST00000267422.7_Silent_p.G91G|NOVA1_ENST00000465357.2_Silent_p.G189G NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 216 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GCAAGTTGATCCCATCAGGTT 0.483000 9 65 0 0 0.004482 0 0 DNM3 26052 broad.mit.edu 37 1 172011255 172011255 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:172011255C>T ENST00000358155.4 + 8 1275 c.1099C>T c.(1099-1101)Cat>Tat p.H367Y DNM3_ENST00000367733.2_Missense_Mutation_p.H367Y|DNM3_ENST00000520906.1_Missense_Mutation_p.H367Y|DNM3_ENST00000355305.5_Missense_Mutation_p.H367Y|DNM3_ENST00000367731.1_Missense_Mutation_p.H367Y NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 367 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TCGTATTTTTCATGAACGCTT 0.358000 10 32 0 0 0.008291 0 0 BSN 8927 broad.mit.edu 37 3 49662694 49662694 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr3:49662694C>T ENST00000296452.4 + 2 625 c.511C>T c.(511-513)Ccc>Tcc p.P171S NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 171 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CACGCTGTGTCCCATATGCAA 0.607000 6 59 0 0 0.003080 0 0 GRIP2 80852 broad.mit.edu 37 3 14563253 14563253 + RNA SNP T T G TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr3:14563253T>G ENST00000273083.3 - 0 673 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CGGGATTCCATCGACACTGAG 0.672000 3 21 0 0 0.004672 0 0 CHGB 1114 broad.mit.edu 37 20 5903298 5903298 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr20:5903298G>A ENST00000378961.4 + 4 712 c.508G>A c.(508-510)Gga>Aga p.G170R NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 170 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GGAGGAGGAGGGAGAGAACTA 0.507000 5 26 0 0 0.001168 0 0 EPHB6 2051 broad.mit.edu 37 7 142562286 142562286 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr7:142562286C>T ENST00000392957.2 + 7 1515 c.728C>T c.(727-729)cCa>cTa p.P243L EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.P243L NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 243 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GCTTCCTTTCCAGAGACGCAG 0.667000 37 165 0 0 0.004289 0 0 SNCAIP 9627 broad.mit.edu 37 5 121761206 121761206 + Missense_Mutation SNP C C A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr5:121761206C>A ENST00000261367.7 + 7 2731 c.1303C>A c.(1303-1305)Cca>Aca p.P435T SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P435T|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P388T|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.P435T Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 388 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GAAGTTGACTCCAGCAGGCCT 0.498000 10 40 1.58986e-06 1.74772e-06 0.008291 1 0 SLC38A8 146167 broad.mit.edu 37 16 84050128 84050128 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr16:84050128G>A ENST00000299709.3 - 8 1157 c.1158C>T c.(1156-1158)ttC>ttT p.F386F NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 386 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CCTCACCTGGGAAGATGAAGA 0.562000 5 29 0 0 0.000602 0 0 C11orf82 220042 broad.mit.edu 37 11 82643251 82643251 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr11:82643251C>T ENST00000533655.1 + 6 1083 c.871C>T c.(871-873)Ccc>Tcc p.P291S C11orf82_ENST00000430323.2_Missense_Mutation_p.P291S|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000525388.1_3'UTR NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 291 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 CTGCCATGATCCCATTCAGGA 0.438000 9 23 0 0 0.004482 0 0 TTI1 9675 broad.mit.edu 37 20 36627679 36627679 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr20:36627679G>A ENST00000373448.2 - 6 2942 c.2704C>T c.(2704-2706)Cag>Tag p.Q902* TTI1_ENST00000449821.1_Nonsense_Mutation_p.Q902*|TTI1_ENST00000373447.3_Nonsense_Mutation_p.Q902* NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 902 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 GGAAGCAGCTGGTTTTTGTGG 0.537000 6 44 0 0 0.001168 0 0 ITGB5 3693 broad.mit.edu 37 3 124538622 124538622 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr3:124538622G>A ENST00000296181.4 - 7 1298 c.1002C>T c.(1000-1002)atC>atT p.I334I ITGB5_ENST00000488466.1_Intron NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 334 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) TCACTGCAAAGATGAGGTTGA 0.468000 17 60 0 0 0.006122 0 0 GRIN2A 2903 broad.mit.edu 37 16 9892225 9892225 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr16:9892225G>A ENST00000396573.2 - 12 2574 c.2265C>T c.(2263-2265)atC>atT p.I755I GRIN2A_ENST00000562109.1_Silent_p.I755I|GRIN2A_ENST00000535259.1_Silent_p.I598I|GRIN2A_ENST00000404927.2_Silent_p.I755I|GRIN2A_ENST00000330684.3_Silent_p.I755I|GRIN2A_ENST00000396575.2_Silent_p.I755I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 755 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGTGGCAAAGATGTACCCAC 0.537000 12 39 0 0 0.010729 0 0 ADAM9 8754 broad.mit.edu 37 8 38899485 38899485 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr8:38899485G>A ENST00000487273.2 + 12 1229 c.1151G>A c.(1150-1152)aGt>aAt p.S384N NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 384 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) AACTTTAGCAGTTGCAGTGCA 0.368000 13 32 0 0 0.003163 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29907123 29907123 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr16:29907123C>T ENST00000308713.5 - 4 1097 c.570G>A c.(568-570)ggG>ggA p.G190G SEZ6L2_ENST00000537485.1_Silent_p.G146G|SEZ6L2_ENST00000350527.3_Silent_p.G120G|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_Intron NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 190 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGACGGGGCTCCCCAGATCTG 0.552000 12 51 0 0 0.010729 0 0 STRC 161497 broad.mit.edu 37 15 43895496 43895496 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr15:43895496C>T ENST00000450892.2 - 23 4566 c.4489G>A c.(4489-4491)Gga>Aga p.G1497R STRC_ENST00000541030.1_Missense_Mutation_p.G724R NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1497 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CCTGGGTCTCCTGCAAATAAT 0.547000 17 44 0 0 0.004007 0 0 ZFHX3 463 broad.mit.edu 37 16 72993636 72993636 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr16:72993636G>A ENST00000268489.5 - 2 1081 c.409C>T c.(409-411)Ccg>Tcg p.P137S ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 137 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAGCCGTCCGGCTGGTAGACG 0.692000 16 47 0 0 0.004990 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 4 94 0 0 0.009096 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138417790 138417790 + Missense_Mutation SNP C C T rs150912912 TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr7:138417790C>T ENST00000310018.2 - 17 2022 c.1740G>A c.(1738-1740)atG>atA p.M580I ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.M580I|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.M580I NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 580 M -> T (in RTADR; dbSNP:rs3807153). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GGATAAAAATCATCTCAGGGA 0.428000 5 23 0 0 0.000602 0 0 PHACTR3 116154 broad.mit.edu 37 20 58381145 58381145 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr20:58381145G>A ENST00000371015.1 + 8 1691 c.1224G>A c.(1222-1224)agG>agA p.R408R PHACTR3_ENST00000395636.2_Silent_p.R367R|PHACTR3_ENST00000395639.4_Silent_p.R297R|PHACTR3_ENST00000541461.1_Silent_p.R367R|PHACTR3_ENST00000361300.4_Silent_p.R297R|PHACTR3_ENST00000359926.3_Silent_p.R405R|PHACTR3_ENST00000355648.4_Silent_p.R367R NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 408 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TGAAGCTAAGGAACCGGCCAA 0.517000 26 122 0 0 0.004656 0 0 CYP20A1 57404 broad.mit.edu 37 2 204111491 204111491 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr2:204111491C>T ENST00000356079.4 + 3 259 c.136C>T c.(136-138)Cca>Tca p.P46S CYP20A1_ENST00000429815.2_Missense_Mutation_p.P46S|CYP20A1_ENST00000461371.1_Intron NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 46 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 TGGTAATCTTCCAGATATTGT 0.388000 12 77 0 0 0.001855 0 0 PDPR 55066 broad.mit.edu 37 16 70190455 70190455 + Silent SNP C C A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr16:70190455C>A ENST00000288050.4 + 19 3270 c.2313C>A c.(2311-2313)atC>atA p.I771I RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Silent_p.I129I|PDPR_ENST00000568530.1_Silent_p.I771I|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Silent_p.I671I|PDPR_ENST00000542659.1_Silent_p.I116I NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 771 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CCATGTTCATCCTGGACGACC 0.527000 8 107 5.18039e-06 5.65465e-06 0.003080 1 0 OR13C3 138803 broad.mit.edu 37 9 107298150 107298150 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr9:107298150C>T ENST00000374781.2 - 1 987 c.945G>A c.(943-945)ggG>ggA p.G315G NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 GTGTCACTACCCCATAAAACA 0.373000 10 54 0 0 0.008291 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727446 25727446 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr6:25727446C>T ENST00000274764.2 + 1 310 c.310C>T c.(310-312)Ctg>Ttg p.L104L NM_170610.2 NP_733759.1 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 104 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 GCGCTTGCTACTGCCGGGAGA 0.507000 9 44 0 0 0.004482 0 0 PACS1 55690 broad.mit.edu 37 11 65987258 65987258 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr11:65987258G>A ENST00000320580.4 + 8 1053 c.1020G>A c.(1018-1020)cgG>cgA p.R340R NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 340 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 TCCTGAAGCGGTTTAAAGTTT 0.478000 3 23 0 0 0.009096 0 0 CNNM4 26504 broad.mit.edu 37 2 97464958 97464958 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr2:97464958C>T ENST00000377075.2 + 4 1944 c.1846C>T c.(1846-1848)Ctg>Ttg p.L616L CNNM4_ENST00000540067.1_Silent_p.L103L|CNNM4_ENST00000496186.1_3'UTR NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 616 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CATCCTCATCCTGCAGGTGAG 0.597000 18 80 0 0 0.008871 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101794106 101794106 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr5:101794106C>T ENST00000506729.1 - 6 1282 c.1111G>A c.(1111-1113)Gat>Aat p.D371N SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.D309N|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.D371N Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 371 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GCACATAAATCCTTGATATTA 0.303000 6 41 0 0 0.001168 0 0 TSC2 7249 broad.mit.edu 37 16 2112524 2112524 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr16:2112524C>T ENST00000219476.3 + 13 1914 c.1284C>T c.(1282-1284)tcC>tcT p.S428S TSC2_ENST00000568454.1_Silent_p.S439S|TSC2_ENST00000382538.6_Silent_p.S379S|TSC2_ENST00000353929.4_Silent_p.S428S|TSC2_ENST00000401874.2_Silent_p.S428S|TSC2_ENST00000439673.2_Silent_p.S391S|TSC2_ENST00000350773.4_Silent_p.S428S NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 428 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) ACCTGATCTCCTATAGAGCGC 0.602000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 10 19 0 0 0.008291 0 0 LVRN 206338 broad.mit.edu 37 5 115351463 115351463 + Splice_Site SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr5:115351463G>A ENST00000357872.4 + 18 2880 c.e18+1 AQPEP_ENST00000515454.1_Splice_Site NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN proteolysis integral to membrane metallopeptidase activity|zinc ion binding TGAGTAAAAGGTAAGAAGGAA 0.428000 5 20 0 0 0.000602 0 0 ADAM33 80332 broad.mit.edu 37 20 3650273 3650273 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr20:3650273C>T ENST00000356518.2 - 20 2493 c.2252G>A c.(2251-2253)gGc>gAc p.G751D ADAM33_ENST00000379861.4_Missense_Mutation_p.G751D|ADAM33_ENST00000350009.2_Missense_Mutation_p.G725D|ADAM33_ENST00000466620.1_5'UTR NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 751 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 CCTGTGTGGGCCATCTTTGGG 0.652000 4 19 0 0 0.000602 0 0 PTPRD 5789 broad.mit.edu 37 9 8525030 8525030 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr9:8525030G>A ENST00000381196.4 - 15 1117 c.574C>T c.(574-576)Ctt>Ttt p.L192F PTPRD_ENST00000537002.1_Missense_Mutation_p.L189F|PTPRD_ENST00000356435.5_Missense_Mutation_p.L192F|PTPRD_ENST00000397606.3_Missense_Mutation_p.L186F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L192F|PTPRD_ENST00000397611.3_Missense_Mutation_p.L189F|PTPRD_ENST00000358503.5_Missense_Mutation_p.L183F|PTPRD_ENST00000486161.1_Missense_Mutation_p.L192F|PTPRD_ENST00000397617.3_Missense_Mutation_p.L186F|PTPRD_ENST00000355233.5_Missense_Mutation_p.L192F|PTPRD_ENST00000360074.4_Missense_Mutation_p.L183F NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 192 Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCAATCTGAAGGGCTCCTGTA 0.433000 TSP Lung(15;0.13) 24 115 0 0 0.003954 0 0 HSPA2 3306 broad.mit.edu 37 14 65008497 65008497 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr14:65008497C>T ENST00000247207.6 + 1 1312 c.930C>T c.(928-930)gcC>gcT p.A310A HSPA2_ENST00000394709.1_Silent_p.A310A NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 310 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) AGCTCAATGCCGACCTCTTTC 0.652000 7 22 0 0 0.001984 0 0 PEX14 5195 broad.mit.edu 37 1 10689675 10689675 + Silent SNP C C A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:10689675C>A ENST00000356607.4 + 9 845 c.765C>A c.(763-765)gcC>gcA p.A255A PEX14_ENST00000538836.1_Silent_p.A191A NM_004565.2 NP_004556.1 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 255 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 13 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) GCCCTGCGGCCGTGAACCACC 0.647000 17 42 0.000566183 0.000613695 0.004990 1 0 TSSK1B 83942 broad.mit.edu 37 5 112769724 112769724 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr5:112769724C>T ENST00000390666.3 - 1 1004 c.813G>A c.(811-813)tgG>tgA p.W271* MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 271 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TGGGCTGCATCCAGCAGTGGC 0.627000 10 36 0 0 0.006214 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142480031 142480031 + RNA SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr7:142480031G>A ENST00000603901.1 + 0 163 NR_001296.3 CCTCATCAGCGAACAGTGGGT 0.577000 19 58 0 0 0.008871 0 0 MYO1F 4542 broad.mit.edu 37 19 8587587 8587587 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr19:8587587C>T ENST00000338257.8 - 26 3248 c.2981G>A c.(2980-2982)cGa>cAa p.R994Q NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 994 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 TGCCCGGGGTCGTCTGCTGGC 0.697000 12 44 0 0 0.001855 0 0 EPHB2 2048 broad.mit.edu 37 1 23111246 23111246 + Missense_Mutation SNP T T C TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:23111246T>C ENST00000400191.3 + 3 506 c.488T>C c.(487-489)gTg>gCg p.V163A EPHB2_ENST00000544305.1_Missense_Mutation_p.V163A|EPHB2_ENST00000374630.3_Missense_Mutation_p.V163A|EPHB2_ENST00000374627.1_Missense_Mutation_p.V157A|EPHB2_ENST00000374632.3_Missense_Mutation_p.V163A NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 163 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AACACCGAGGTGCGGAGCTTC 0.602000 3 31 0 0 0.004672 0 0 ABCA4 24 broad.mit.edu 37 1 94586584 94586584 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:94586584C>T ENST00000370225.3 - 1 104 c.18G>A c.(16-18)caG>caA p.Q6Q ABCA4_ENST00000535735.1_Silent_p.Q6Q NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 6 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) AAAGCTGTATCTGTCTCACGA 0.488000 9 45 0 0 0.004482 0 0 TKT 7086 broad.mit.edu 37 3 53275209 53275209 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr3:53275209G>A ENST00000462138.1 - 3 366 c.278C>T c.(277-279)gCc>gTc p.A93V TKT_ENST00000296289.6_Missense_Mutation_p.A46V|TKT_ENST00000423525.2_Missense_Mutation_p.A93V|TKT_ENST00000423516.1_Missense_Mutation_p.A93V P29401 TKT_HUMAN transketolase 93 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) CTCCGCCTCGGCCAGGAAACC 0.652000 5 34 0 0 0.001168 0 0 LILRP2 79166 broad.mit.edu 37 19 55220650 55220650 + RNA SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr19:55220650C>T ENST00000413439.1 + 0 788 CGCAGCGAGCCCCTGGAGCTG 0.592000 4 14 0 0 0.000602 0 0 DSC3 1825 broad.mit.edu 37 18 28602425 28602425 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr18:28602425C>T ENST00000434452.1 - 7 973 c.819G>A c.(817-819)ccG>ccA p.P273P DSC3_ENST00000360428.4_Silent_p.P273P NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 273 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GCATTGTGTCCGGTTCATCTC 0.438000 11 34 0 0 0.010729 0 0 BSN 8927 broad.mit.edu 37 3 49693791 49693791 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr3:49693791C>T ENST00000296452.4 + 5 6916 c.6802C>T c.(6802-6804)Ccc>Tcc p.P2268S NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2268 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AAGTAGATTTCCCATTGCTTC 0.607000 24 84 0 0 0.004656 0 0 SEC23B 10483 broad.mit.edu 37 20 18507119 18507119 + Missense_Mutation SNP C C T rs111758941 TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr20:18507119C>T ENST00000336714.3 + 8 1369 c.937C>T c.(937-939)Cgt>Tgt p.R313C SEC23B_ENST00000377465.1_Missense_Mutation_p.R313C|SEC23B_ENST00000262544.2_Missense_Mutation_p.R313C|SEC23B_ENST00000377475.3_Missense_Mutation_p.R313C NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 313 R -> H. ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 GATTCCTATTCGTTCTTGGCA 0.458000 12 45 0 0 0.001855 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 4 33 0 0 0.009096 0 0 BDKRB1 623 broad.mit.edu 37 14 96730313 96730313 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr14:96730313G>A ENST00000216629.6 + 3 900 c.294G>A c.(292-294)tgG>tgA p.W98* RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Nonsense_Mutation_p.W98* NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 98 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) AGAATATCTGGAACCAGTTTA 0.552000 15 67 0 0 0.004007 0 0 LILRB4 11006 broad.mit.edu 37 19 55177331 55177331 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr19:55177331C>T ENST00000391736.1 + 9 1138 c.823C>T c.(823-825)Ctc>Ttc p.L275F LILRB4_ENST00000391733.3_Missense_Mutation_p.L275F|LILRB4_ENST00000391734.3_Missense_Mutation_p.L275F|LILRB4_ENST00000270452.2_Missense_Mutation_p.L275F|LILRB4_ENST00000430952.2_Missense_Mutation_p.L275F NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 275 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) tctctccctcctcctcttcct 0.572000 4 16 0 0 0.009096 0 0 PCLO 27445 broad.mit.edu 37 7 82476533 82476533 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr7:82476533G>A ENST00000423517.2 - 11 14022 c.13685C>T c.(13684-13686)cCc>cTc p.P4562L PCLO_ENST00000333891.8_Missense_Mutation_p.P4562L|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4450 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGAAGTCAAGGGAATTCCATT 0.368000 5 13 0 0 0.001168 0 0 BRWD3 254065 broad.mit.edu 37 X 79936924 79936924 + Missense_Mutation SNP A A G TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chrX:79936924A>G ENST00000373275.4 - 40 4786 c.4570T>C c.(4570-4572)Ttc>Ctc p.F1524L BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1524 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TATCCACCGAAGCTCGATGAA 0.388000 7 49 0 0 0.003080 0 0 TRPM1 4308 broad.mit.edu 37 15 31362263 31362263 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr15:31362263G>A ENST00000542188.1 - 3 614 c.301C>T c.(301-303)Cag>Tag p.Q101* TRPM1_ENST00000397795.2_Nonsense_Mutation_p.Q62*|TRPM1_ENST00000559179.1_Nonsense_Mutation_p.Q62*|TRPM1_ENST00000256552.6_Nonsense_Mutation_p.Q84* NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 62 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CCGCCACCCTGGAATTCAAGA 0.507000 63 280 0 0 0.014410 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31146129 31146129 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr7:31146129G>A ENST00000304166.4 + 16 1527 c.1238G>A c.(1237-1239)cGa>cAa p.R413Q ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R469Q|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R392Q|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R441Q NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 413 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 GAGATCAAGCGAAAATGGCGA 0.612000 7 33 0 0 0.001984 0 0 CACNA1E 777 broad.mit.edu 37 1 181689360 181689360 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:181689360G>A ENST00000526775.1 + 14 1935 c.1770G>A c.(1768-1770)cgG>cgA p.R590R CACNA1E_ENST00000367567.4_Silent_p.R197R|CACNA1E_ENST00000360108.3_Silent_p.R590R|CACNA1E_ENST00000358338.5_Silent_p.R541R|CACNA1E_ENST00000367573.2_Silent_p.R590R|CACNA1E_ENST00000367570.1_Silent_p.R590R|CACNA1E_ENST00000357570.5_Silent_p.R541R NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 590 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTTCCCTACGGAATTTGGTGG 0.478000 9 57 0 0 0.008291 0 0 PTHLH 5744 broad.mit.edu 37 12 28116578 28116578 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr12:28116578G>A ENST00000535992.1 - 3 573 c.227C>T c.(226-228)tCg>tTg p.S76L PTHLH_ENST00000545234.1_Missense_Mutation_p.S76L|PTHLH_ENST00000395872.1_Missense_Mutation_p.S76L|PTHLH_ENST00000395868.3_Missense_Mutation_p.S76L|PTHLH_ENST00000538310.1_Missense_Mutation_p.S76L|PTHLH_ENST00000201015.4_Missense_Mutation_p.S76L|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000354417.3_Missense_Mutation_p.S76L|PTHLH_ENST00000539239.1_Missense_Mutation_p.S76L P12272 PTHR_HUMAN parathyroid hormone-like hormone 76 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding p.S76*(1) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) GGACACCTCCGAGGTAGCTCT 0.512000 26 132 0 0 0.004656 0 0 HDAC9 9734 broad.mit.edu 37 7 18975448 18975448 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr7:18975448G>A ENST00000406451.3 + 23 2961 c.2811G>A c.(2809-2811)acG>acA p.T937T HDAC9_ENST00000401921.1_Silent_p.T896T|HDAC9_ENST00000432645.2_Silent_p.T937T|HDAC9_ENST00000441542.2_Silent_p.T940T NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 937 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GTCATTTGACGAAGCAATTGA 0.388000 15 101 0 0 0.006122 0 0 PHACTR3 116154 broad.mit.edu 37 20 58381144 58381144 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr20:58381144G>A ENST00000371015.1 + 8 1690 c.1223G>A c.(1222-1224)aGg>aAg p.R408K PHACTR3_ENST00000395636.2_Missense_Mutation_p.R367K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R297K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R367K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R297K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R405K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R367K NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 408 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GTGAAGCTAAGGAACCGGCCA 0.522000 26 124 0 0 0.004656 0 0 HAL 3034 broad.mit.edu 37 12 96380882 96380882 + Silent SNP A A C TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr12:96380882A>C ENST00000261208.3 - 12 1382 c.1014T>G c.(1012-1014)ctT>ctG p.L338L HAL_ENST00000541929.1_Silent_p.L130L|HAL_ENST00000538703.1_Silent_p.L338L NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 338 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) TCAGCACCTCAAGGGTCAGGG 0.557000 20 82 0 0 0.008871 0 0 NGF 4803 broad.mit.edu 37 1 115829023 115829023 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:115829023C>T ENST00000369512.2 - 3 562 c.394G>A c.(394-396)Gaa>Aaa p.E132K RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 132 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) ACCGAGAATTCGCCCCTGTGG 0.567000 6 42 0 0 0.001168 0 0 NAT2 10 broad.mit.edu 37 8 18258334 18258334 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr8:18258334C>T ENST00000286479.3 + 2 928 c.821C>T c.(820-822)tCc>tTc p.S274F NAT2_ENST00000520116.1_Missense_Mutation_p.S144F NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 274 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) TTTAAGATTTCCTTGGGGAGA 0.358000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 18 34 0 0 0.006122 0 0 MEP1A 4224 broad.mit.edu 37 6 46800999 46800999 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr6:46800999C>T ENST00000230588.4 + 11 1342 c.1333C>T c.(1333-1335)Ctt>Ttt p.L445F NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 445 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CTCCCAAGTCCTTGAGAACAC 0.498000 24 55 0 0 0.003954 0 0 NKD2 85409 broad.mit.edu 37 5 1034917 1034917 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr5:1034917C>T ENST00000296849.5 + 7 702 c.473C>T c.(472-474)tCg>tTg p.S158L NKD2_ENST00000274150.4_Missense_Mutation_p.S158L|NKD2_ENST00000537972.1_Missense_Mutation_p.S158L NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 158 Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GTGGATGCCTCGGTCAACCAC 0.627000 14 41 0 0 0.004007 0 0 CBLN2 147381 broad.mit.edu 37 18 70209153 70209153 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr18:70209153G>A ENST00000269503.4 - 3 1016 c.243C>T c.(241-243)tcC>tcT p.S81S CBLN2_ENST00000585159.1_Silent_p.S81S|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 81 integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) AGATGCCTAGGGAGGAGGTGA 0.697000 6 27 0 0 0.001168 0 0 SQLE 6713 broad.mit.edu 37 8 126015510 126015510 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr8:126015510C>T ENST00000265896.5 + 2 1282 c.384C>T c.(382-384)atC>atT p.I128I SQLE_ENST00000523430.1_Silent_p.I33I NM_003129.3 NP_003120.2 Q14534 ERG1_HUMAN squalene epoxidase 128 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) AAGTTATCATCGTGGGAGCTG 0.448000 19 35 0 0 0.006122 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr6:29977358T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 6 24 0 0 0.001168 0 0 SZT2 23334 broad.mit.edu 37 1 43896716 43896716 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:43896716C>T ENST00000562955.1 + 32 4700 c.4700C>T c.(4699-4701)cCc>cTc p.P1567L SZT2_ENST00000372442.1_Missense_Mutation_p.P725L NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1624 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CTGACTTTGCCCCTGGAAGTG 0.622000 11 52 0 0 0.010729 0 0 MYH8 4626 broad.mit.edu 37 17 10305096 10305096 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr17:10305096C>T ENST00000403437.2 - 23 2789 c.2695G>A c.(2695-2697)Gat>Aat p.D899N CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 899 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCCAAGCTATCTGCTTCCTAT 0.368000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 22 86 0 0 0.014323 0 0 RB1 5925 broad.mit.edu 37 13 49033822 49033822 + Splice_Site SNP A A C TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr13:49033822A>C ENST00000267163.4 + 20 2098 c.e20-1 NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(10) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTATTCCCACAGTGTATCGGC 0.358000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 9 38 0 0 0.010729 0 0 FAT1 2195 broad.mit.edu 37 4 187560922 187560922 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr4:187560922G>A ENST00000441802.2 - 4 3805 c.3596C>T c.(3595-3597)aCg>aTg p.T1199M NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1199 Cadherin 10. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CTTCCTTGACGTAGTTGTGAT 0.328000 HNSCC(5;0.00058) 13 33 0 0 0.002450 0 0 LAMA5 3911 broad.mit.edu 37 20 60902710 60902710 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr20:60902710G>A ENST00000252999.3 - 37 4879 c.4813C>T c.(4813-4815)Ccc>Tcc p.P1605S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1605 Laminin EGF-like 15. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCACATTTGGGGCCCTGCACG 0.632000 14 43 0 0 0.001855 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777808 18777808 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr9:18777808G>A ENST00000380548.4 + 19 3920 c.3581G>A c.(3580-3582)gGg>gAg p.G1194E NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1194 Ig-like C2-type 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CTGGCCAGCGGGACACTGAGT 0.627000 10 36 0 0 0.006214 0 0 RB1 5925 broad.mit.edu 37 13 48923091 48923091 + Splice_Site SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr13:48923091G>A ENST00000267163.4 + 6 677 c.e6-1 NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTGTTTAATAGGATATCTACT 0.259000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 4 31 0 0 0.001984 0 0 VEGFC 7424 broad.mit.edu 37 4 177608419 177608419 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr4:177608419C>T ENST00000280193.2 - 6 1482 c.1067G>A c.(1066-1068)gGa>gAa p.G356E RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 356 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GGCACATTTTCCAGGATTTAG 0.438000 19 104 0 0 0.008871 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr22:16279248C>T ENST00000343518.6 - 4 1026 c.975G>A c.(973-975)gtG>gtA p.V325V NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 325 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTAAAAATTTCACCACTTGCT 0.328000 7 234 0 0 0.001984 0 0 STAG1 10274 broad.mit.edu 37 3 136240075 136240075 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr3:136240075C>T ENST00000383202.2 - 7 912 c.656G>A c.(655-657)aGg>aAg p.R219K STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Missense_Mutation_p.R219K|STAG1_ENST00000480733.1_Missense_Mutation_p.R219K NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 219 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 ACTTGTATGCCTAAAAGCTCT 0.348000 7 22 0 0 0.001984 0 0 BAI1 575 broad.mit.edu 37 8 143623501 143623501 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr8:143623501C>T ENST00000517894.1 + 28 4800 c.3906C>T c.(3904-3906)ttC>ttT p.F1302F BAI1_ENST00000323289.5_Silent_p.F1302F O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1302 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) TGCCCGACTTCCCCAACCACT 0.657000 26 36 0 0 0.004656 0 0 EMR2 30817 broad.mit.edu 37 19 14875264 14875264 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr19:14875264G>A ENST00000315576.3 - 11 1516 c.1065C>T c.(1063-1065)ttC>ttT p.F355F EMR2_ENST00000392965.3_Silent_p.F355F|EMR2_ENST00000601345.1_Silent_p.F355F|EMR2_ENST00000392967.2_Silent_p.F355F|EMR2_ENST00000392964.3_Silent_p.F94F|EMR2_ENST00000596991.2_Silent_p.F355F|EMR2_ENST00000595839.1_Silent_p.F213F|EMR2_ENST00000346057.1_Silent_p.F306F|EMR2_ENST00000353005.1_Silent_p.F213F|EMR2_ENST00000594294.1_Silent_p.F306F|EMR2_ENST00000594076.1_Silent_p.F262F|EMR2_ENST00000353876.1_Silent_p.F262F NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 355 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 CAGGATAACTGAAGTTCAACA 0.567000 5 35 0 0 0.000602 0 0 CCNB3 85417 broad.mit.edu 37 X 50051656 50051656 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chrX:50051656G>A ENST00000376042.1 + 6 785 c.487G>A c.(487-489)Gaa>Aaa p.E163K CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E163K|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 163 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TTTAAAGGAGGAACCCACTAT 0.413000 9 32 0 0 0.004482 0 0 PARP14 54625 broad.mit.edu 37 3 122422609 122422609 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr3:122422609C>T ENST00000474629.2 + 7 3368 c.3102C>T c.(3100-3102)tcC>tcT p.S1034S NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1034 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) TTGTCAACTCCGTTCCCTTGG 0.418000 5 26 0 0 0.000602 0 0 ACAN 176 broad.mit.edu 37 15 89400694 89400694 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr15:89400694C>T ENST00000439576.2 + 12 5252 c.4878C>T c.(4876-4878)ccC>ccT p.P1626P ACAN_ENST00000561243.1_Silent_p.P1626P|ACAN_ENST00000559004.1_Silent_p.P1626P|ACAN_ENST00000352105.7_Silent_p.P1626P NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1626 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GTGGTCTTCCCTCTGGATTTA 0.522000 25 118 0 0 0.003954 0 0 CORIN 10699 broad.mit.edu 37 4 47597789 47597789 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr4:47597789G>A ENST00000273857.4 - 22 3077 c.3078C>T c.(3076-3078)ttC>ttT p.F1026F CORIN_ENST00000508498.1_Silent_p.F887F|CORIN_ENST00000505909.1_Silent_p.F989F|CORIN_ENST00000502252.1_Silent_p.F959F NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 1026 Peptidase S1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TCCATTCGACGAAATATGACA 0.418000 10 52 0 0 0.010729 0 0 HTR3B 9177 broad.mit.edu 37 11 113802492 113802492 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr11:113802492G>A ENST00000260191.2 + 4 528 c.271G>A c.(271-273)Gaa>Aaa p.E91K HTR3B_ENST00000537778.1_Missense_Mutation_p.E80K NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 91 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) CTGGAATGATGAATTTTTATC 0.388000 6 20 0 0 0.001984 0 0 ACACB 32 broad.mit.edu 37 12 109660343 109660343 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr12:109660343C>T ENST00000338432.7 + 25 3715 c.3596C>T c.(3595-3597)tCg>tTg p.S1199L ACACB_ENST00000377854.5_Missense_Mutation_p.S1129L|ACACB_ENST00000377848.3_Missense_Mutation_p.S1199L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1199 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCTTCCCTGTCGGACGAGCTG 0.572000 15 60 0 0 0.002450 0 0 IGLV3-19 28797 broad.mit.edu 37 22 23063523 23063523 + RNA SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr22:23063523C>T ENST00000390309.2 + 0 270 TCAGGGATCCCAGACCGATTC 0.542000 5 22 0 0 0.001168 0 0 CUL7 9820 broad.mit.edu 37 6 43013793 43013793 + Missense_Mutation SNP A A T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr6:43013793A>T ENST00000535468.1 - 13 3035 c.2949T>A c.(2947-2949)agT>agA p.S983R CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Missense_Mutation_p.S899R NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 899 DOC. interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCGGCATGTAACTCGAGTCCT 0.577000 8 39 0 0 0.006214 0 0 MAP3K6 9064 broad.mit.edu 37 1 27687213 27687213 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:27687213G>A ENST00000374040.3 - 14 2273 c.2013C>T c.(2011-2013)atC>atT p.I671I MAP3K6_ENST00000357582.2_Silent_p.I679I|MAP3K6_ENST00000493901.1_Silent_p.I679I O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 679 Protein kinase. activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCCGCTCCGGGATCTCCTTGA 0.736000 7 36 0 0 0.001984 0 0 RFX6 222546 broad.mit.edu 37 6 117252545 117252545 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr6:117252545G>A ENST00000332958.2 + 19 2679 c.2663G>A c.(2662-2664)gGa>gAa p.G888E NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 888 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGTATGTATGGAACTTCCAAC 0.408000 25 45 0 0 0.006320 0 0 UGGT2 55757 broad.mit.edu 37 13 96536834 96536834 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr13:96536834G>A ENST00000376747.3 - 27 3209 c.3139C>T c.(3139-3141)Ctc>Ttc p.L1047F NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1047 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 AGGATTAGGAGGGGTGATTCA 0.413000 3 33 0 0 0.004672 0 0 RAG2 5897 broad.mit.edu 37 11 36614827 36614827 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr11:36614827C>T ENST00000311485.3 - 2 1053 c.892G>A c.(892-894)Gaa>Aaa p.E298K NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 298 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TCACGAATTTCTATCTTGTTG 0.383000 Familial Hemophagocytic Lymphohistiocytosis 13 63 0 0 0.001855 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179306081 179306081 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr5:179306081C>T ENST00000356834.3 - 9 1570 c.1533G>A c.(1531-1533)gaG>gaA p.E511E TBC1D9B_ENST00000355235.3_Silent_p.E511E NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 511 Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCGGAGGCTCTCAGGGATAC 0.632000 4 54 0 0 0.009096 0 0 NANOG 79923 broad.mit.edu 37 12 7947129 7947129 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr12:7947129G>A ENST00000229307.4 + 3 710 c.491G>A c.(490-492)gGt>gAt p.G164D NANOG_ENST00000526286.1_Missense_Mutation_p.G164D NM_024865.2 NP_079141.2 Q9H9S0 NANOG_HUMAN Nanog homeobox 164 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) AATAGCAATGGTGTGACGCAG 0.423000 5 9 0 0 0.000602 0 0 RSPO3 84870 broad.mit.edu 37 6 127469798 127469798 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr6:127469798C>T ENST00000356698.4 + 2 692 c.103C>T c.(103-105)Cct>Tct p.P35S RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.P35S NM_032784.3 NP_116173.2 Q9BXY4 RSPO3_HUMAN R-spondin 3 35 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) CACAGTGCATCCTAACGTTAG 0.383000 18 34 0 0 0.006122 0 0 CHD4 1108 broad.mit.edu 37 12 6705279 6705279 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr12:6705279G>A ENST00000309577.6 - 13 2080 c.1917C>T c.(1915-1917)caC>caT p.H639H CHD4_ENST00000544484.1_Silent_p.H636H|CHD4_ENST00000544040.1_Silent_p.H632H|CHD4_ENST00000357008.2_Silent_p.H639H Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 639 Chromo 2. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGATCAAGTAGTGGACGTGGC 0.507000 9 38 0 0 0.006214 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935417 151935417 + Silent SNP G G A rs149076914 TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chrX:151935417G>A ENST00000393902.3 - 3 1317 c.750C>T c.(748-750)ttC>ttT p.F250F MAGEA3_ENST00000370278.3_Silent_p.F250F P43357 MAGA3_HUMAN melanoma antigen family A, 3 250 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTGCACGAAATGTTGGG 0.537000 37 134 0 0 0.004289 0 0 GTF2A2 2958 broad.mit.edu 37 15 59942972 59942972 + Splice_Site SNP A A T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr15:59942972A>T ENST00000396060.2 - 3 254 c.72_splice c.e3-1 p.S25_splice GTF2A2_ENST00000396063.1_Splice_Site_p.S25_splice|GTF2A2_ENST00000396061.1_Splice_Site_p.S25_splice|GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000484743.1_Intron|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000396064.3_Splice_Site_p.S25_splice NM_004492.2 NP_004483.1 P52657 T2AG_HUMAN general transcription factor IIA, 2, 12kDa 25 interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIIA complex protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity central_nervous_system(2)|kidney(2)|lung(1) 5 ATCTGTTGAGACTGAGAAAAG 0.358000 6 38 0 0 0.001168 0 0 GPR6 2830 broad.mit.edu 37 6 110301378 110301378 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr6:110301378C>T ENST00000414000.2 + 3 1347 c.1108C>T c.(1108-1110)Cgt>Tgt p.R370C GPR6_ENST00000275169.3_Missense_Mutation_p.R355C P46095 GPR6_HUMAN G protein-coupled receptor 6 355 integral to plasma membrane p.R355C(1) breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) AGTGCCCTTTCGTTCCAGGTC 0.592000 49 99 0 0 0.014410 0 0 DNAH12 201625 broad.mit.edu 37 3 57488087 57488087 + Silent SNP C C T rs141849816 byFrequency TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr3:57488087C>T ENST00000351747.2 - 10 1386 c.1206G>A c.(1204-1206)cgG>cgA p.R402R DNAH12_ENST00000311202.6_Silent_p.R402R|DNAH12_ENST00000389536.4_Silent_p.R402R NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 402 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 CTTCTAAGTTCCGATGTACTG 0.393000 4 49 0 0 0.009096 0 0 SH2D3A 10045 broad.mit.edu 37 19 6760692 6760692 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr19:6760692C>T ENST00000245908.6 - 3 645 c.376G>A c.(376-378)Gag>Aag p.E126K SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 126 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 AGGGTGTCCTCGCTAAAGCTG 0.602000 13 42 0 0 0.001855 0 0 CXorf58 254158 broad.mit.edu 37 X 23953461 23953461 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chrX:23953461G>A ENST00000379211.3 + 7 1253 c.704G>A c.(703-705)cGa>cAa p.R235Q NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 235 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 AACCGTCTACGAAATGAAATG 0.378000 7 54 0 0 0.001984 0 0 PER1 5187 broad.mit.edu 37 17 8053142 8053142 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr17:8053142G>A ENST00000317276.4 - 5 819 c.582C>T c.(580-582)tcC>tcT p.S194S PER1_ENST00000354903.5_Silent_p.S178S|PER1_ENST00000581082.1_Silent_p.S194S NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 194 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 ACATGTCCATGGAGCAAGGCT 0.592000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 44 207 0 0 0.009718 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588458 20588458 + RNA SNP G G C rs2291971 by1000genomes TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr15:20588458G>C ENST00000428453.1 - 0 4292 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 TGCTGGCCATGACTGCAGTGC 0.458000 9 27 0 0 0.004482 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40295428 40295428 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr15:40295428C>T ENST00000263791.5 + 23 3313 c.3270C>T c.(3268-3270)ccC>ccT p.P1090P EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Silent_p.P1062P NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 1090 Histidyl-tRNA synthetase-like. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TACTGCTTCCCCGAAACAGAC 0.468000 12 38 0 0 0.013537 0 0 GPR123 84435 broad.mit.edu 37 10 134942150 134942150 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr10:134942150G>A ENST00000607359.1 + 16 2975 c.2975G>A c.(2974-2976)gGg>gAg p.G992E GPR123_ENST00000392607.3_Missense_Mutation_p.G273E|GPR123_ENST00000392606.2_Missense_Mutation_p.G176E Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 273 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) TGGGCCTTCGGGGCGCTGGCG 0.672000 4 15 0 0 0.009096 0 0 NWD1 284434 broad.mit.edu 37 19 16860837 16860837 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr19:16860837G>A ENST00000524140.2 + 6 1802 c.1384G>A c.(1384-1386)Gtg>Atg p.V462M NWD1_ENST00000552788.1_Missense_Mutation_p.V462M|NWD1_ENST00000549814.1_Missense_Mutation_p.V462M|NWD1_ENST00000523826.1_Missense_Mutation_p.V256M|NWD1_ENST00000379808.3_Missense_Mutation_p.V462M|NWD1_ENST00000339803.6_Missense_Mutation_p.V327M NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 462 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCCCCCGAGGGTGCACCTCAT 0.642000 14 108 0 0 0.003163 0 0 C22orf43 51233 broad.mit.edu 37 22 23956351 23956351 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr22:23956351C>T ENST00000317749.5 - 9 889 c.592G>A c.(592-594)Gaa>Aaa p.E198K NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 198 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 TCTTCTTCTTCATCTTTGTGT 0.403000 10 23 0 0 0.013537 0 0 ARMC12 221481 broad.mit.edu 37 6 35706273 35706273 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr6:35706273G>A ENST00000373866.3 + 3 444 c.422G>A c.(421-423)aGa>aAa p.R141K ARMC12_ENST00000373869.3_Missense_Mutation_p.R141K|ARMC12_ENST00000288065.2_Missense_Mutation_p.R168K Q5T9G4 CF081_HUMAN armadillo repeat containing 12 141 binding TCTGGCATCAGAAAATTCAGG 0.463000 11 49 0 0 0.002450 0 0 SALL1 6299 broad.mit.edu 37 16 51174856 51174856 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr16:51174856C>T ENST00000440970.1 - 2 1417 c.986G>A c.(985-987)aGa>aAa p.R329K SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R426K|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 426 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTTGCTTTTTCTTTGCTGGGC 0.507000 14 71 0 0 0.001855 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482555 140482555 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr5:140482555C>T ENST00000231130.2 + 1 2322 c.2322C>T c.(2320-2322)ttC>ttT p.F774F NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 774 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCCAACTTCGTTGCTCAGG 0.507000 14 55 0 0 0.014323 0 0 SNX30 401548 broad.mit.edu 37 9 115593151 115593151 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr9:115593151C>T ENST00000374232.3 + 4 770 c.606C>T c.(604-606)ttC>ttT p.F202F NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 202 PX. cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TTAATATTTTCCTTACTGCTA 0.393000 6 30 0 0 0.001168 0 0 CFTR 1080 broad.mit.edu 37 7 117175352 117175352 + Silent SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr7:117175352C>T ENST00000003084.6 + 6 762 c.630C>T c.(628-630)ctC>ctT p.L210L CFTR_ENST00000454343.1_Silent_p.L210L NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 210 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AAGTGGCACTCCTCATGGGGC 0.498000 Cystic Fibrosis 25 100 0 0 0.003954 0 0 OR2M3 127062 broad.mit.edu 37 1 248366863 248366863 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:248366863C>T ENST00000456743.1 + 1 532 c.494C>T c.(493-495)tCc>tTc p.S165F NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCAACATTTTCCTTCTCCTAC 0.433000 86 113 0 0 0.014410 0 0 HSPA5 3309 broad.mit.edu 37 9 128002471 128002471 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr9:128002471C>T ENST00000324460.6 - 3 675 c.472G>A c.(472-474)Gag>Aag p.E158K NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 158 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) AAATAAGCCTCAGCGGTTTCT 0.358000 Prostate(1;0.17) 4 20 0 0 0.009096 0 0 TENM1 10178 broad.mit.edu 37 X 123871004 123871004 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chrX:123871004G>A ENST00000422452.2 - 4 642 c.579C>T c.(577-579)ctC>ctT p.L193L TENM1_ENST00000371130.3_Silent_p.L193L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GTGGCGGTGGGAGGGGTCTGA 0.562000 9 52 0 0 0.004482 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356375 40356375 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr4:40356375G>A ENST00000310169.2 + 5 1417 c.1278G>A c.(1276-1278)agG>agA p.R426R NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 426 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TGCTGACGAGGAATATTGAGT 0.498000 3 32 0 0 0.004672 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236087 140236087 + Missense_Mutation SNP C C T TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr5:140236087C>T ENST00000307360.5 + 1 454 c.454C>T c.(454-456)Cca>Tca p.P152S PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P152S|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCGATTTCCACTAGAAGG 0.428000 20 89 0 0 0.012319 0 0 TLE1 7088 broad.mit.edu 37 9 84231585 84231585 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr9:84231585G>A ENST00000376499.3 - 10 1805 c.741C>T c.(739-741)aaC>aaT p.N247N TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 247 CCN domain. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 CCACAACTAAGTTGTCATCGC 0.328000 13 24 0 0 0.001855 0 0 SULT2B1 6820 broad.mit.edu 37 19 49090527 49090527 + Missense_Mutation SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr19:49090527G>A ENST00000323090.4 + 2 586 c.211G>A c.(211-213)Gaa>Aaa p.E71K SULT2B1_ENST00000201586.2_Missense_Mutation_p.E86K NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 86 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) AATCCTGAAGGAAGGGGATCC 0.572000 9 51 0 0 0.006214 0 0 ZFHX3 463 broad.mit.edu 37 16 72993635 72993635 + Missense_Mutation SNP G G A rs140908169 TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr16:72993635G>A ENST00000268489.5 - 2 1082 c.410C>T c.(409-411)cCg>cTg p.P137L ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 137 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGAGCCGTCCGGCTGGTAGAC 0.692000 16 47 0 0 0.006122 0 0 PISD 23761 broad.mit.edu 37 22 32019697 32019697 + Silent SNP G G A TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr22:32019697G>A ENST00000382151.2 - 3 611 c.192C>T c.(190-192)agC>agT p.S64S PISD_ENST00000397500.1_Silent_p.S64S|PISD_ENST00000336566.4_Intron|PISD_ENST00000439502.2_Intron|PISD_ENST00000266095.5_Silent_p.S64S|PISD_ENST00000478893.1_5'UTR Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 0 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 Phosphatidylserine(DB00144) ATCCCACCCGGCTGAGCGGTC 0.662000 12 48 0 0 0.013537 0 0 SZT2 23334 broad.mit.edu 37 1 43902868 43902868 + Frame_Shift_Del DEL C C - TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr1:43902868delC ENST00000562955.1 + 42 5890 c.5890delC c.(5890-5892)ccfs p.P1964fs SZT2_ENST00000372442.1_Frame_Shift_Del_p.P1122fs NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2021 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GAGCTGTGCGCCCCGTGGGTA 0.562 15 107 --- --- --- --- LEMD2 221496 broad.mit.edu 37 6 33756881 33756882 + Frame_Shift_Del DEL AC AC - TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr6:33756881_33756882delAC ENST00000293760.5 - 1 31_32 c.12_13delGT c.(10-15)ctcgfs p.LS4fs NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 4 LEM. integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 TCCAGGTCCGACAGGCCGGCCA 0.762 24 44 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89653858 89653859 + Frame_Shift_Ins INS - - C TCGA-D3-A1Q7-06A-11D-A19A-08 TCGA-D3-A1Q7-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1a8ab712-7bb1-4ec4-8f15-0779ae8f782e c59cf762-f216-44f6-b633-c66edb546435 g.chr10:89653858_89653859insC ENST00000371953.3 + 2 1513_1514 c.156_157insC c.(154-159)gatagtfs p.S53fs NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 53 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(8)|p.D52del(2)|p.Y27fs*1(2) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ATATTGATGATGTAGTAAGGTA 0.297 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 5 4 --- --- --- ---